#Format: HPOTermName(HPO-ID)	[entrez-gene-symbol1(entrez-gene-id1), entrez-gene-symbol2(entrez-gene-id2)] (tab is used as a separator, pound sign - start of a comment)
'BULGING' EPIPHYSES(HP:0003013)	[CLCN5(1184), CYP27B1(1594), SLC34A3(142680), VDR(7421), CYP2R1(120227)]
'BULGING' OF THE COSTOCHONDRAL JUNCTION(HP:0000893)	[CYP27B1(1594), SLC34A3(142680), VDR(7421)]
'CARP-LIKE' MOUTH(HP:0000186)	[OFD1(8481), ATRX(546), EHMT1(79813)]
'COAT HANGER' DEFORMITY OF LOWER RIBS(HP:0006665)	[FLNA(2316)]
'CURVILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003205)	[CLN5(1203), TPP1(1200), CLN3(1201), NDRG1(10397), CLN8(2055), CLN6(54982)]
'DOLL-LIKE' FACIES(HP:0000295)	[SLC37A4(2542), G6PC(2538)]
'DRUMSTICK' TERMINAL PHALANGES(HP:0006129)	[RPS6KA3(6197)]
'ERLENMEYER FLASK' DEFORMITY OF DISTAL FEMUR(HP:0006422)	[ANKH(56172)]
'ERLENMEYER FLASK' DEFORMITY OF THE FEMURS(HP:0004975)	[ANKH(56172), GBA(2629)]
'FINGERPRINT' PROFILES ULTRASTRUCTURALLY(HP:0003208)	[CLN5(1203), CLN3(1201), CLN6(54982)]
'MOLAR TOOTH SIGN' ON MRI(HP:0002419)	[TMEM67(91147), NPHP1(4867), TMEM216(51259), AHI1(54806), INPP5E(56623), CEP290(80184)]
'MOTTLED' PIGMENTATION OF THE TRUNK AND PROXIMAL EXTREMITIES(HP:0007438)	[KRT5(3852)]
'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383)	[SBF2(81846), SH3TC2(79628), MFN2(9927), LMNA(4000), KIF1B(23095), NEFL(4747), NDRG1(10397), FGD4(121512), PRX(57716), EGR2(1959), ARHGEF10(9639), MPZ(4359), LITAF(9516), RAB7A(7879), SLC12A6(9990), GDAP1(54332), DNM2(1785), PMP22(5376)]
'PUGILISTIC FACIES'(HP:0000339)	[COL2A1(1280)]
'RECTILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003226)	[CLN5(1203)]
'SEA-BLUE' HISTIOCYTES(HP:0001982)	[NPC2(10577), NPC1(4864), SMPD1(6609), GLB1(2720)]
'STEPPAGE' GAIT(HP:0003376)	[SBF2(81846), MFN2(9927), LMNA(4000), HSPB1(3315), KIF1B(23095), NEFL(4747), HSPB3(8988), GAN(8139), POLG(5428), PRX(57716), EGR2(1959), MPZ(4359), TTN(7273), RAB7A(7879), GDAP1(54332), PMP22(5376), FHL1(2273)]
'TREE-FROG' FEET(HP:0001782)	[FLNA(2316)]
'WHISTLING' APPEARANCE(HP:0000346)	[MYH3(4621)]
1-3 TOE SYNDACTYLY(HP:0001459)	[GLI3(2737)]
1-5 FINGER COMPLETE CUTANEOUS SYNDACTYLY(HP:0006088)	[LMBR1(64327)]
1-5 TOE SYNDACTYLY(HP:0010713)	[GLI3(2737)]
11 PAIRS OF RIBS(HP:0000878)	[LBR(3930), SOX9(6662), ATR(545), RPS19(6223), FLNB(2317)]
2-3 FINGER SYNDACTYLY(HP:0001233)	[FGF10(2255), GPC3(2719), SOST(50964), FGFR3(2261)]
2-3 OR 4-5 TOE SYNDACTYLY(HP:0004703)	[HOXD13(3239)]
2-3 TOE SYNDACTYLY(HP:0004691)	[SALL1(6299), NOG(9241), DHCR7(1717), BCOR(54880), FGFR1(2260), TP63(8626), LMBR1(64327), FGFR2(2263), NIPBL(25836)]
2-4 FINGER SYNDACTYLY(HP:0010709)	[SALL1(6299)]
2ND-5TH TOE MIDDLE PHALANGEAL HYPOPLASIA(HP:0008083)	[HOXD13(3239)]
3-4 FINGER SYNDACTYLY(HP:0006097)	[SALL1(6299), GLI3(2737)]
3-4 TOE SYNDACTYLY(HP:0009779)	[SALL1(6299), GJA1(2697)]
3-HYDROXYDICARBOXYLIC ACIDURIA(HP:0008160)	[HADHB(3032)]
3-METHYLGLUTACONIC ACIDURIA(HP:0003535)	[TMEM70(54968), ATPAF2(91647), POLG(5428), HMGCL(3155), DNAJC19(131118)]
3-METHYLGLUTARIC ACIDURIA(HP:0003344)	[HMGCL(3155), DNAJC19(131118)]
4-5 TOE SYNDACTYLY(HP:0004692)	[HOXD13(3239)]
4-HYDROXYPHENYLACETIC ACIDURIA(HP:0003607)	[HPD(3242)]
4-HYDROXYPHENYLPYRUVIC ACID DIOXYGENASE DEFICIENCY (HPD)(HP:0003637)	[HPD(3242)]
4-HYDROXYPHENYLPYRUVIC ACIDURIA(HP:0003161)	[HPD(3242)]
46,XY GONADAL DYSGENESIS(HP:0008668)	[DHH(50846)]
5TH FINGER CLINO-CAMPTODACTYLY(HP:0006062)	[HOXD13(3239)]
6 METACARPALS(HP:0001501)	[HOXD13(3239), LMBR1(64327)]
A SUBSET OF PATIENTS DEVELOP RENAL INSUFFICIENCY WITH DECREASED CREATININE CLEARANCE(HP:0004723)	[CLCN5(1184)]
A THIN SEAL OF BONE AT THE CHONDROOSSEOUS JUNCTION(HP:0003331)	[TRPV4(59341)]
ABDOMINAL DISTENTION(HP:0003270)	[RET(5979), INSR(3643), ZEB2(9839), PHOX2B(8929), VDR(7421), FLNA(2316), SLC26A2(1836), NPHS1(4868), L1CAM(3897), SPINT2(10653), CYP27B1(1594), SLC2A2(6514), NME1(4830), COL2A1(1280), GNE(10020), GNPTAB(79158), GDNF(2668), TRMU(55687), PRKCSH(5589), SLC37A4(2542), TRIP11(9321), G6PC(2538), LIPA(3988), SEC63(11231), MNX1(3110), SMPD1(6609), PAX8(7849)]
ABDOMINAL PAIN(HP:0002027)	[PRSS1(5644), CPOX(1371), PPOX(5498), HPS5(11234), MVK(4598), POLG(5428), LPL(4023), MEFV(4210), BLOC1S3(388552), HMBS(3145), STK11(6794), NME1(4830), TNFRSF1A(7132), SMAD4(4089), HEXB(3074), TYMP(1890), DTNBP1(84062), GLA(2717), ABCG8(64241), ABCG5(64240), HPS3(84343), ALDOB(229), HPS1(3257), SERPING1(710), FSHR(2492), CLDN16(10686), SPINK1(6690), HPS4(89781), BMPR1A(657), HPS6(79803), MLYCD(23417)]
ABDOMINAL SITUS INVERSUS(HP:0003363)	[SLC19A2(10560), DNAI1(27019), ZIC3(7547), NPHP3(27031), NODAL(4838)]
ABDOMINAL WALL MUSCLE WEAKNESS(HP:0009023)	[FBN1(2200)]
ABERRANT MELANOSOME MATURATION(HP:0007384)	[AP3B1(8546)]
ABETALIPOPROTEINEMIA(HP:0008181)	[PANK2(80025), MTTP(4547), SLC4A1(6521)]
ABNORMAL AGGRESSIVE, IMPULSIVE OR VIOLENT BEHAVIOR(HP:0006919)	[MAOA(4128)]
ABNORMAL ANATOMIC LOCATION OF THE HEART(HP:0004307)	[DNAH11(8701), SLC19A2(10560), DNAI1(27019), ZIC3(7547), CRELD1(78987), NPHP3(27031), NODAL(4838), UBR1(197131), PQBP1(10084)]
ABNORMAL ANTIHELIX(HP:0009738)	[EVC(2121), SLC16A2(6567)]
ABNORMAL AUDITORY EVOKED POTENTIALS(HP:0006958)	[OPA1(4976), SH3TC2(79628), SOX10(6663), OTOF(9381), NDRG1(10397), MTMR2(8898), EDNRB(1910)]
ABNORMAL B CELL FUNCTION(HP:0005372)	[PNP(4860)]
ABNORMAL BLADDER REGULATION DUE TO AUTONOMIC DYSFUNCTION(HP:0005341)	[LMNB1(4001)]
ABNORMAL BLISTERING OF THE SKIN(HP:0008066)	[ITGB4(3691), KRT5(3852), KRT14(3861), PLEC(5339), ITGA6(3655)]
ABNORMAL BONE LABORATORY EXAMINATION(HP:0003330)	[TRPV4(59341), LBR(3930), CRTAP(10491), LEPRE1(64175)]
ABNORMAL BRAINSTEM AUDITORY EVOKED POTENTIALS, SUGGESTING DEMYELINATION(HP:0006923)	[NDRG1(10397), MYH3(4621)]
ABNORMAL CALCIFICATION OF THE CARPAL BONES(HP:0009164)	[EBP(10682), DDR2(4921)]
ABNORMAL CARDIOLOGICAL FINDINGS(HP:0003114)	[FXN(2395)]
ABNORMAL CARTILAGE COLLAGEN ON EM(HP:0008271)	[COL2A1(1280)]
ABNORMAL CERVICAL CURVATURE(HP:0005905)	[CHRNA1(1134), CHRNG(1146), CHRND(1144)]
ABNORMAL CHOLESTEROL HOMEOSTASIS(HP:0003464)	[NPC2(10577), NPC1(4864)]
ABNORMAL COLOR VISION(HP:0000551)	[OPA1(4976), BEST1(7439), PROM1(8842), CNGB3(54714), OPN1MW(2652), OPN1LW(5956)]
ABNORMAL CORTICAL GYRATION(HP:0002536)	[PEX19(5824), FKRP(79147), FH(2271), DCX(1641), PEX2(5828), VPS33B(26276), LARGE(9215), PEX5(5830), RAPSN(5913), GPR56(9289), ATR(545), CCBE1(147372), MECP2(4204), HSD17B4(3295), COL18A1(80781), FREM2(341640), POMT1(10585), RELN(5649), PEX26(55670), FRAS1(80144), TUBA8(51807), POMGNT1(55624), PEX10(5192), PAFAH1B1(5048), PEX14(5195), VLDLR(7436), PEX13(5194), PEX1(5189), FTO(79068), PEX3(8504), HYLS1(219844), ETFDH(2110), ETFB(2109), LAMA2(3908), MCPH1(79648), ETFA(2108), TUBA1A(7846), FKTN(2218), SNAP29(9342), ARX(170302), ATP6V0A2(23545), DOK7(285489), RECQL4(9401), CPT2(1376), TUBB2B(347733), POMT2(29954)]
ABNORMAL CORTICOMEDULLARY DIFFERENTIATION(HP:0005932)	[INVS(27130), BSND(7809), PKHD1(5314), CLCNKB(1188), NIPBL(25836)]
ABNORMAL CSF FINDINGS(HP:0002921)	[TH(7054), NDUFS7(374291), ARSA(410), PDHA1(5160), DDC(1644), SDHA(6389), BCS1L(617), POLG(5428), NDUFAF2(91942), PSAP(5660), EGR2(1959), TTR(7276), COX15(1355), NDUFA1(4694), NDUFA2(4695), TREX1(11277), GFAP(2670), C8orf38(137682), GALC(2581), NDUFAF3(25915), LRPPRC(10128), COX6B1(1340), PEX7(5191), NDUFA11(126328), DLD(1738), NDUFAF4(29078), NDUFS1(4719), SURF1(6834), SUMF1(285362), PRX(57716), PNPO(55163), NDUFS3(4722), SCO2(9997), PHYH(5264), NDUFV1(4723), NDUFS2(4720), MPZ(4359), NDUFS6(4726), C20orf7(79133), NDUFS4(4724), FASTKD2(22868), NDUFS8(4728), SLC12A6(9990), PMP22(5376)]
ABNORMAL DELAYED HYPERSENSITIVITY SKIN TEST(HP:0002963)	[RFX5(5993), RAB27A(5873), RFXAP(5994), WAS(7454), FAS(355), CASP10(843), RFXANK(8625), CIITA(4261)]
ABNORMAL DELIVERY(HP:0001787)	[PEX19(5824), PLOD1(5351), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), CRTAP(10491), MYH3(4621), PEX1(5189), PEX3(8504), ZMPSTE24(10269), COL5A2(1290), SLC26A2(1836), MKS1(54903), COL5A1(1289), DHCR7(1717), COL1A2(1278), COL1A1(1277), PEX26(55670), ADAMTS2(9509)]
ABNORMAL DERMATOGLYPHICS(HP:0007477)	[PEX19(5824), ABCD3(5825), EP300(2033), WHCR(7467), PEX2(5828), EHMT1(79813), WHSC1(7468), PEX5(5830), ATR(545), RPS6KA3(6197), GATA1(2623), CCBE1(147372), GDF5(8200), BRAF(673), B4GALT7(11285), DCR(1637), MAP2K1(5604), MED12(9968), MAP2K2(5605), NOG(9241), HRAS(3265), FGD1(2245), UBR1(197131), PEX26(55670), BMP4(652), VPS13B(157680), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), KRAS(3845), PEX3(8504), B3GALTL(145173), TFAP2A(7020), NIPBL(25836), SEMA3E(9723), LIFR(3977), OFD1(8481), CREBBP(1387), TPM2(7169), DPAGT1(1798), CHST3(9469), KRT14(3861), CHD7(55636)]
ABNORMAL DERMATOLOGICAL LABORATORY FINDINGS(HP:0003340)	[LAMB3(3914), ITGB4(3691), GPR143(4935), LAMC2(3918), ITGA6(3655), LAMA3(3909)]
ABNORMAL ECHOCARDIOGRAM(HP:0003116)	[FXN(2395)]
ABNORMAL EKG(HP:0003115)	[FXN(2395)]
ABNORMAL ELECTRORETINOGRAM(HP:0000512)	[PEX19(5824), LRAT(9227), FKRP(79147), OPN1SW(611), PEX2(5828), LARGE(9215), PEX5(5830), RP1(6101), RP9(6100), HSD17B4(3295), PDE6B(5158), RS1(6247), PPT1(5538), PRPH2(5961), GUCY2D(3000), AHI1(54806), RLBP1(6017), PEX26(55670), MYO7A(4647), RBP4(5950), RHO(6010), POMGNT1(55624), ALG3(10195), IMPDH1(3614), BEST1(7439), PEX10(5192), PROM1(8842), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), TIMM8A(1678), MCOLN1(57192), NR2E3(10002), ACOX1(51), TPP1(1200), CLN3(1201), RPE65(6121), NOTCH3(4854)]
ABNORMAL EMG FINDINGS(HP:0003457)	[ARSA(410), PLA2G6(8398), CHAT(1103), RAPSN(5913), SGCB(6443), VAPB(9217), MUSK(4593), HSPB8(26353), ALS2(57679), GDAP1(54332), OAT(4942), NEB(4703), SMN1(6606), COLQ(8292), PLEKHG5(57449), HSPB1(3315), CAV3(859), HSPB3(8988), IGHMBP2(3508), CHRNE(1145), VRK1(7443), ACTA1(58), SLC12A6(9990), CHRNB1(1140), LDB3(11155), ATP7A(538)]
ABNORMAL ENDOCRINOLOGICAL LABORATORY FINDINGS(HP:0003117)	[GLUD1(2746), VDR(7421), H19(283120), SLC16A1(6566), GLI3(2737), SLC16A2(6567), IYD(389434), PDE11A(50940), THRB(7068), HESX1(8820), DUOX2(50506), BTK(695), GYS2(2998), MC2R(4158), LHX3(8022), PPARG(5468), NKX2-1(7080), AIP(9049), TSHR(7253), SLC5A5(6528), GNASAS(149775), DCAF17(80067), CRH(1392), ABCC8(6833), SLC29A3(55315), PRKAR1A(5573), NR0B1(190), SLC12A1(6557), MRAP(56246), STX16(8675), GH1(2688), KCNJ11(3767), SNRPN(6638), INSR(3643), LMNA(4000), SDHD(6392), SDHC(6391), SLC1A1(6505), ZMPSTE24(10269), MPI(4351), NDN(4692), CYP27B1(1594), KCNJ1(3758), CYP11B2(1585), PITX2(5308), CYP11B1(1584), PTRF(284119), SMARCAL1(50485), BSCL2(26580), SHH(6469), GNAS(2778), PHEX(5251), CLCN5(1184), VPS13B(157680), GCK(2645), KAL1(3730), TP63(8626), PHKG2(5261), SEMA3E(9723), PPP1R3A(5506), HADH(3033), ALMS1(7840), SLC34A3(142680), SCNN1G(6340), AGPAT2(10555), TBX19(9095), CASR(846), SCNN1B(6338), CHD7(55636), PAX8(7849)]
ABNORMAL EXTERNAL GENITALIA(HP:0000811)	[FBN1(2200), DCX(1641), ATRX(546), TGM1(7051), BBS5(129880), PROK2(60675), ATR(545), MYH3(4621), NELF(26012), CCBE1(147372), HSD17B3(3293), NSD1(64324), H19(283120), DNAJC19(131118), GLI3(2737), FERMT1(55612), ESCO2(157570), KCNQ1OT1(10984), KIT(3815), STK11(6794), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), AMH(268), AMHR2(269), SC5DL(6309), SALL1(6299), GPC3(2719), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), SEC23A(10484), PTEN(5728), B3GALTL(145173), UPB1(51733), DCAF17(80067), ROR2(4920), SLC29A3(55315), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CREBBP(1387), POR(5447), RAB23(51715), CYP11A1(1583), MKKS(8195), SNRPN(6638), HCCS(3052), LMNA(4000), RAPSN(5913), ZEB2(9839), FGFR1(2260), EVC2(132884), FGFR3(2261), OCRL(4952), INPP5E(56623), HBB(3043), TAC3(6866), MECP2(4204), FGFR2(2263), CDKN1C(1028), BBS12(166379), TACR3(6870), CUL4B(8450), FGF10(2255), SOS1(6654), NDN(4692), PHF6(84295), DSP(1832), POLA1(5422), HOXA13(3209), GPC6(10082), FGD1(2245), CYP21A2(1589), CYP17A1(1586), PQBP1(10084), PEX26(55670), TTC8(123016), CYP11B1(1584), BSCL2(26580), FOXC2(2303), LHCGR(3973), TBCE(6905), LHB(3972), UBA1(7317), SLC39A4(55630), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), ICK(22858), BBS4(585), PORCN(64840), PEX3(8504), ALOXE3(59344), NIPBL(25836), BBS10(79738), TMEM70(54968), KDM5C(8242), OFD1(8481), HOXD13(3239), BBS7(55212), DOK7(285489), CUL7(9820), CXCR4(7852), AR(367), SMS(6611), ATPAF2(91647), CHD7(55636), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), ERCC2(2068), PEX5(5830), STS(412), TBX15(6913), TRIM32(22954), ARL6(84100), TBX3(6926), BRWD3(254065), ERCC6(2074), STRA6(64220), FLNA(2316), MTM1(4534), FLNB(2317), SOX10(6663), MID1(4281), BUB1B(701), SOX2(6657), HNF1B(6928), TCOF1(6949), BMP4(652), TSPYL1(7259), DKC1(1736), IRF6(3664), SRD5A2(6716), BLM(641), WT1(7490), MKS1(54903), KISS1R(84634), NR0B1(190), ARX(170302), RECQL4(9401), RAB3GAP1(22930), PLEC(5339), HSPG2(3339), WHCR(7467), CD96(10225), ZBTB16(7704), INSR(3643), WHSC1(7468), INSL3(3640), ERCC8(1161), ATIC(471), CEP290(80184), ZMPSTE24(10269), DHCR24(1718), PTPN11(5781), MED12(9968), DHCR7(1717), RXFP2(122042), WNT3(7473), FREM2(341640), WNT7A(7476), EVC(2121), PHGDH(26227), PITX2(5308), STAR(6770), FRAS1(80144), PCNT(5116), F13A1(2162), TP63(8626), FANCA(2175), FTO(79068), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), EFNB1(1947), TPM2(7169), AGPAT2(10555), ALOX12B(242), G6PC3(92579)]
ABNORMAL EYE MOVEMENTS, PAROXYSMAL(HP:0007704)	[SLC2A1(6513)]
ABNORMAL FACIAL EXPRESSION(HP:0005346)	[PRNP(5621), TH(7054), UCHL1(7345), TBP(6908), MYH3(4621), MAPT(4137), CC2D1A(54862), ATP13A2(23400), DCTN1(1639), MYF6(4618), PANK2(80025), NLGN4X(57502), PNKD(25953), DNM2(1785), DBH(1621)]
ABNORMAL FACILITY IN OPPOSING THE SHOULDERS(HP:0005259)	[RUNX2(860)]
ABNORMAL FEET MORPHOLOGY(HP:0010611)	[MAP2K1(5604), MAP2K2(5605), EP300(2033), CD96(10225), HRAS(3265), ATP2A2(488), PTCH1(5727), CREBBP(1387), KRAS(3845), ERCC6(2074), BRAF(673)]
ABNORMAL FINGER FLEXION CREASES(HP:0006143)	[NOG(9241), HOXD13(3239), TBX15(6913), ATR(545), TNNI2(7136), MYH3(4621), TPM2(7169), IHH(3549), WNT7A(7476), TNNT3(7140), LMX1B(4010)]
ABNORMAL FLASH VISUAL EVOKED POTENTIALS(HP:0007928)	[GALC(2581)]
ABNORMAL FORM OF EARS(HP:0000377)	[FBN1(2200), FBN2(2201), FKRP(79147), ATRX(546), ATR(545), NSD1(64324), DCR(1637), GLI3(2737), SLC16A2(6567), ESCO2(157570), CHRNA1(1134), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), SEC23A(10484), PEX1(5189), B3GALTL(145173), SLC6A8(6535), FKTN(2218), RAB3GAP2(25782), SLC9A6(10479), CHRNE(1145), CHRND(1144), CREBBP(1387), POR(5447), SLC12A6(9990), RAB23(51715), CPT2(1376), MAN2B1(4125), ZEB2(9839), FGFR1(2260), FGFR3(2261), NBN(4683), MECP2(4204), FGFR2(2263), COL5A2(1290), COL6A1(1291), FGF10(2255), COL5A1(1289), PHF6(84295), FGF3(2248), COL6A2(1292), IGBP1(3476), COL6A3(1293), FGD1(2245), KCNJ1(3758), COL3A1(1281), PQBP1(10084), PEX26(55670), ABHD5(51099), OPHN1(4983), ICK(22858), PORCN(64840), PEX3(8504), PLOD3(8985), EBP(10682), KDM5C(8242), FAM123B(139285), SMS(6611), CHD7(55636), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), LARGE(9215), TWIST1(7291), TBX15(6913), PEX5(5830), PYCR1(5831), RPS6KA3(6197), GATA1(2623), MGP(4256), TCF4(6925), ERCC6(2074), BRWD3(254065), BRAF(673), FLNA(2316), MAP2K1(5604), MAP2K2(5605), PMM2(5373), POMT1(10585), FMR1(2332), TCOF1(6949), HOXA2(3199), BMP4(652), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), ARX(170302), COL1A1(1277), RAB3GAP1(22930), MGAT2(4247), POMT2(29954), HSPG2(3339), TRPS1(7227), INSR(3643), EHMT1(79813), ERCC8(1161), LMBRD1(55788), ZMPSTE24(10269), EYA1(2138), MED12(9968), PTPN11(5781), DHCR24(1718), FREM2(341640), EVC(2121), ADAMTSL2(9719), FRAS1(80144), ALG3(10195), PCNT(5116), CLCF1(23529), TP63(8626), KRAS(3845), HYLS1(219844), TFAP2B(7021), TFAP2A(7020), MMACHC(25974), SEMA3E(9723), GBA(2629)]
ABNORMAL FORM OF THE VERTEBRAL BODIES(HP:0003312)	[ARSB(411), GUSB(2990), ATRX(546), NPR2(4882), TBX15(6913), FLNA(2316), PLOD2(5352), GLI3(2737), FLNB(2317), SGSH(6448), IKBKG(8517), SOX2(6657), PAPSS2(9060), MATN3(4148), PTCH1(5727), SLC35D1(23169), IHH(3549), GNPTAB(79158), TCIRG1(10312), SC5DL(6309), GLB1(2720), AGA(175), AIP(9049), SEC23A(10484), GALNS(2588), PEX7(5191), LRP5(4041), B3GALTL(145173), ROR2(4920), DDR2(4921), LBR(3930), CHRNG(1146), GNPAT(8443), COL1A2(1278), VANGL1(81839), POR(5447), ACAN(176), COL1A1(1277), NAGLU(4669), JAG1(182), MAN2B1(4125), ATP7A(538), TRAPPC2(6399), HSPG2(3339), COMP(1311), FGFR1(2260), FGFR3(2261), OCRL(4952), COL9A1(1297), MMP13(4322), COL11A2(1302), COL11A1(1301), SLC26A2(1836), RMRP(6023), GNS(2799), SBDS(51119), DYM(54808), SH3PXD2B(285590), COL2A1(1280), FUCA1(2517), CBS(875), GDF6(392255), ACVR1(90), SMARCAL1(50485), ADA(100), HGSNAT(138050), SOST(50964), WISP3(8838), PLOD3(8985), SLC39A13(91252), SEMA3E(9723), EIF2AK3(9451), EBP(10682), TRPV4(59341), DLL3(10683), GORAB(92344), ALPL(249), CUL7(9820), CHST3(9469), RPS19(6223), CHD7(55636), LEPRE1(64175)]
ABNORMAL FORMATION OF MYELIN SHEATHS(HP:0004335)	[KCNJ10(3766), CTDP1(9150), SBF2(81846), STXBP1(6812), GPR56(9289), ERCC8(1161), MTMR2(8898), GJC2(57165), HSD17B4(3295), ERCC6(2074), PLP1(5354), MCOLN1(57192), EIF2B2(8892), PSAP(5660), EIF2B5(8893), EGR2(1959), SOX10(6663), MPZ(4359), EIF2B4(8890), ADSL(158), EIF2B3(8891), GDAP1(54332), EIF2B1(1967), PHGDH(26227)]
ABNORMAL GLUCOSE TOLERANCE(HP:0001952)	[SLC19A2(10560), BBS5(129880), TRIM32(22954), ARL6(84100), HNF1A(6927), PRPS1(5631), POLG2(11232), CTNS(1497), FOXP3(50943), CP(1356), HNF1B(6928), UBR1(197131), BBS9(27241), PPARG(5468), AIP(9049), NEUROG3(50674), BLM(641), DCAF17(80067), ABCC8(6833), SLC29A3(55315), MKS1(54903), SPINK1(6690), HNF4A(3172), PDX1(3651), KCNJ11(3767), PRSS1(5644), MKKS(8195), WFS1(7466), INSR(3643), ENPP1(5167), LMNA(4000), ATM(472), APOA5(116519), COL9A1(1297), APOE(348), CEP290(80184), BBS12(166379), PAX4(5078), ZMPSTE24(10269), PRPS2(5634), AIRE(326), INS(3630), WRN(7486), AKT2(208), FXN(2395), HFE(3077), TTC8(123016), TNDM(7952), SLC5A1(6523), PTRF(284119), BSCL2(26580), CNBP(7555), GCK(2645), PCNT(5116), BBS1(582), BBS2(583), BBS4(585), EIF2AK3(9451), PPP1R3A(5506), BBS10(79738), BBS7(55212), ALMS1(7840), AGPAT2(10555), ZFP57(346171)]
ABNORMAL HAIR GROWTH PATTERN(HP:0010720)	[GUSB(2990), BBS5(129880), CCBE1(147372), GLI3(2737), ALX3(257), COX15(1355), PAPSS2(9060), GNE(10020), UBR1(197131), BBS9(27241), GLB1(2720), PPARG(5468), UROD(7389), AIP(9049), B3GALTL(145173), UROS(7390), SURF1(6834), SLC29A3(55315), CREBBP(1387), FST(10468), NAGLU(4669), MAN2B1(4125), ADAMTS2(9509), NDUFS7(374291), MKKS(8195), SNRPN(6638), LMNA(4000), FGFR1(2260), FGFR3(2261), SDHA(6389), BCS1L(617), FGFR2(2263), BBS12(166379), SOS1(6654), GNS(2799), NDN(4692), NDUFA2(4695), FGD1(2245), TTC8(123016), GDF6(392255), C8orf38(137682), BSCL2(26580), PTRF(284119), CNBP(7555), BBS1(582), BBS2(583), BBS4(585), NIPBL(25836), NDUFS3(4722), BBS10(79738), NDUFV1(4723), BBS7(55212), NDUFS4(4724), NDUFS8(4728), EP300(2033), ARSB(411), DMPK(1760), TWIST1(7291), TBX15(6913), TRIM32(22954), ARL6(84100), ERCC6(2074), FLNA(2316), SGSH(6448), IDS(3423), MID1(4281), MITF(4286), TCOF1(6949), LRPPRC(10128), DLD(1738), BLM(641), TSC1(7248), TSC2(7249), MKS1(54903), PRKAR1A(5573), ARX(170302), WNT4(54361), KIAA1279(26128), RAB3GAP1(22930), HSPG2(3339), WHCR(7467), CD96(10225), EHMT1(79813), INSR(3643), WHSC1(7468), CEP290(80184), PAX3(5077), MED12(9968), PTPN11(5781), FREM2(341640), FRAS1(80144), HGSNAT(138050), TFAP2A(7020), EFNB1(1947), ALDOA(226), PPP1R3A(5506), MMP2(4313), AGPAT2(10555)]
ABNORMAL HAIR LABORATORY EXAMINATION(HP:0003328)	[BCS1L(617)]
ABNORMAL HAIR WHORL(HP:0010721)	[MED12(9968), EP300(2033), SNRPN(6638), NDN(4692), CREBBP(1387), UBR1(197131)]
ABNORMAL HAND MORPHOLOGY(HP:0005922)	[BSCL2(26580), SNRPN(6638), VPS13B(157680), INSR(3643), NSD1(64324), GDF5(8200), PDGFRA(5156), KDM5C(8242), NDN(4692), KIT(3815), COL7A1(1294), ATP2A2(488), PTCH1(5727), MOGS(7841), TPM2(7169), AGPAT2(10555), SMS(6611)]
ABNORMAL HEAD MOVEMENTS(HP:0002457)	[DLAT(1737), GJC2(57165), FMR1(2332)]
ABNORMAL HEMATOLOGICAL LABORATORY FINDINGS(HP:0003135)	[PGK1(5230), P2RY12(64805), MMAA(166785), TINF2(26277), SH2D1A(4068), ATR(545), SALL4(57167), ANK1(286), FOXP3(50943), SLC7A7(9056), THPO(7066), MYH9(4627), NPC1(4864), FANCD2(2177), FANCC(2176), FANCE(2178), STIM1(6786), SC5DL(6309), LYST(1130), PTGS1(5742), PSTPIP1(9051), UROS(7390), SEC23B(10483), C10orf2(56652), PFKM(5213), MPL(4352), AP3B1(8546), MPV17(4358), UMPS(7372), GP1BA(2811), GP9(2815), GP1BB(2812), NDRG1(10397), NHP2(55651), NBN(4683), APOE(348), GNS(2799), HOXA11(3207), SBDS(51119), RAG2(5897), RAG1(5896), KCNJ1(3758), COL4A5(1287), ADA(100), NIPBL(25836), RUNX1(861), JAK2(3717), IVD(3712), FAS(355), CASP10(843), SMPD1(6609), TBXAS1(6916), CD40LG(959), CD36(948), GATA1(2623), SCARB2(950), ITK(3702), FLNA(2316), CTNS(1497), ITGB3(3690), NPC2(10577), TREX1(11277), SLC46A1(113235), HLCS(3141), TCIRG1(10312), ITGA2(3673), GALC(2581), TCN2(6948), ITGA2B(3674), ABCG8(64241), ABCG5(64240), PKLR(5313), DKC1(1736), LBR(3930), ADAMTS13(11093), TNFSF11(8600), WFS1(7466), ACAD9(28976), MVK(4598), LMBRD1(55788), MUT(4594), PTPN11(5781), DGUOK(1716), CFH(3075), SLC4A1(6521), PHGDH(26227), NOP10(55505), SMARCAL1(50485), HGSNAT(138050), MMAB(326625), TERC(7012), TERT(7015), DCLRE1C(64421), FANCA(2175), MMACHC(25974), VWF(7450), PCCB(5096), FCGR2C(9103), WAS(7454), GBA(2629), PNP(4860), F9(2158), RPS19(6223), SLC35A1(10559), MASTL(84930), G6PC3(92579), PCCA(5095)]
ABNORMAL IMMUNOGLOBULIN LEVEL(HP:0010701)	[CD40(958), CD40LG(959), SH2D1A(4068), ERCC2(2068), SPINK5(11005), ATM(472), ERCC3(2071), SETX(23064), TNFRSF13B(23495), MVK(4598), ITK(3702), HBG1(3047), CIITA(4261), B2M(567), RAG2(5897), RAG1(5896), BTK(695), PMM2(5373), CD19(930), PTRF(284119), SMARCAL1(50485), TCN2(6948), CNBP(7555), ADA(100), SFTPA2(729238), KRT1(3848), DCLRE1C(64421), ROBLD3(28956), PSG1(5669), SP110(3431), RFXANK(8625), IL2RG(3561), BLM(641), PCCB(5096), RFX5(5993), GTF2H5(404672), KRT16(3868), KLHDC8B(200942), RFXAP(5994), ELANE(1991), WAS(7454), FAS(355), CASP10(843), CXCR4(7852), ICOS(29851), MAN2B1(4125), KRT9(3857), PCCA(5095)]
ABNORMAL IMMUNOLOGICAL LABORATORY FINDING(HP:0003346)	[CD40(958), CD40LG(959), ERCC2(2068), SPINK5(11005), SH2D1A(4068), ERCC3(2071), SETX(23064), ITK(3702), CIITA(4261), B2M(567), TREX1(11277), BTK(695), PMM2(5373), CD19(930), TCN2(6948), SP110(3431), BLM(641), IL2RG(3561), RFX5(5993), GTF2H5(404672), RFXAP(5994), ELANE(1991), ICOS(29851), MAN2B1(4125), ATM(472), TNFRSF13B(23495), NBN(4683), MVK(4598), HBG1(3047), PRTN3(5657), RAG2(5897), RAG1(5896), SMARCAL1(50485), PTRF(284119), CNBP(7555), ADA(100), KRT1(3848), SFTPA2(729238), DCLRE1C(64421), ROBLD3(28956), PSG1(5669), RFXANK(8625), PCCB(5096), FCGR2C(9103), KLHDC8B(200942), KRT16(3868), WAS(7454), MMP2(4313), FAS(355), CASP10(843), CXCR4(7852), KRT9(3857), PCCA(5095)]
ABNORMAL INTERNAL GENITALIA(HP:0000812)	[FBN1(2200), RET(5979), ATRX(546), PROK2(60675), ATR(545), CCBE1(147372), GLRB(2743), GLRA1(2741), H19(283120), DNAJC19(131118), GLI3(2737), KCNQ1OT1(10984), KIT(3815), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), GLB1(2720), PPARG(5468), GPC3(2719), SEC23A(10484), B3GALTL(145173), ROR2(4920), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), POR(5447), FST(10468), GP1BA(2811), MKKS(8195), SNRPN(6638), FH(2271), GP9(2815), GP1BB(2812), RAPSN(5913), ZEB2(9839), FGFR1(2260), OCRL(4952), FGFR2(2263), BBS12(166379), POLG(5428), CDKN1C(1028), SOS1(6654), POLA1(5422), GNRH1(2796), HOXA13(3209), FGD1(2245), CYP19A1(1588), CYP17A1(1586), CYP11B1(1584), HPRT1(3251), FOXC2(2303), KAL1(3730), BBS1(582), BBS2(583), OPHN1(4983), ICK(22858), BBS4(585), NIPBL(25836), BBS10(79738), CCND1(595), TMEM70(54968), KDM5C(8242), DOK7(285489), CUL7(9820), SMS(6611), DMPK(1760), TRIM32(22954), EFEMP2(30008), ARL6(84100), HNF1A(6927), TBX3(6926), STRA6(64220), ERCC6(2074), MTM1(4534), ITGB3(3690), BUB1B(701), HNF1B(6928), BTK(695), TCOF1(6949), BMP4(652), ITGA2B(3674), AGA(175), BCOR(54880), SOX18(54345), GALNS(2588), DKC1(1736), IRF6(3664), BLM(641), WT1(7490), FOXL2(668), MKS1(54903), KISS1R(84634), NR0B1(190), COL1A2(1278), WNT4(54361), RECQL4(9401), COL1A1(1277), RAB3GAP1(22930), BMPR1B(658), WHCR(7467), WFS1(7466), INSR(3643), WHSC1(7468), INSL3(3640), ERCC8(1161), CEP290(80184), PAX3(5077), MED12(9968), EIF2B2(8892), GPHN(10243), EIF2B5(8893), DHCR7(1717), DGCR(1714), RXFP2(122042), EIF2B4(8890), EIF2B3(8891), WNT3(7473), WNT7A(7476), HFE(3077), EVC(2121), PHGDH(26227), FRAS1(80144), F13A1(2162), FANCA(2175), TFAP2A(7020), VHL(7428), PPP1R3A(5506), VWF(7450), ATP6V0A2(23545), F10(2159), MNX1(3110), F5(2153), LEPRE1(64175), GUSB(2990), BBS5(129880), MYH3(4621), NELF(26012), SALL4(57167), NSD1(64324), ESCO2(157570), PAPSS2(9060), STK11(6794), MYH9(4627), PTCH1(5727), GNE(10020), AMH(268), AMHR2(269), UPK3A(7380), SALL1(6299), SLC2A10(81031), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), AIP(9049), PEX1(5189), PTEN(5728), DCAF17(80067), FSHB(2488), FSHR(2492), CREBBP(1387), UNG(7374), RAB23(51715), MAN2B1(4125), ADAMTS2(9509), HCCS(3052), LMNA(4000), EVC2(132884), LOX(4015), NBN(4683), TAC3(6866), MECP2(4204), TACR3(6870), COL5A2(1290), SLC26A2(1836), AIRE(326), CUL4B(8450), COL5A1(1289), NDN(4692), PHF6(84295), GPC6(10082), COL2A1(1280), COL3A1(1281), CBS(875), PQBP1(10084), TTC8(123016), PEX26(55670), BSCL2(26580), TBCE(6905), LHCGR(3973), LHB(3972), UBA1(7317), SLC39A4(55630), TBX1(6899), PORCN(64840), PCSK1(5122), PEX3(8504), OFD1(8481), BBS7(55212), ALMS1(7840), DHH(50846), CXCR4(7852), AR(367), ATPAF2(91647), CHD7(55636), PEX19(5824), ARSB(411), PLOD1(5351), EP300(2033), ABCD3(5825), PEX2(5828), STS(412), PEX5(5830), RPS6KA3(6197), BRWD3(254065), FLNA(2316), PLOD2(5352), FLNB(2317), IDS(3423), SOX10(6663), MID1(4281), SOX2(6657), FLT4(2324), PMM2(5373), NEU1(4758), FMR1(2332), ELN(2006), TSPYL1(7259), ARX(170302), MBTPS2(51360), SLC6A5(9152), SRY(6736), HSPG2(3339), CD96(10225), ZBTB16(7704), ATM(472), PTPN11(5781), FBLN5(10516), EIF2B1(1967), FREM2(341640), TP63(8626), FTO(79068), HYLS1(219844), SEMA3E(9723), SSTR5(6755), TPM2(7169), AGPAT2(10555), G6PC3(92579)]
ABNORMAL IRIS PIGMENTATION(HP:0008034)	[PEX19(5824), ABCD3(5825), PEX2(5828), PEX5(5830), GATA1(2623), ANCR(282), MECP2(4204), EDN3(1908), PAX3(5077), EDNRB(1910), DCR(1637), LMX1B(4010), SOX10(6663), CDKL5(6792), MITF(4286), UROC1(131669), SNAI2(6591), UBE3A(7337), PEX26(55670), PAH(5053), LYST(1130), PEX10(5192), PEX14(5195), PEX13(5194), TP63(8626), PEX1(5189), PEX3(8504), TYR(7299)]
ABNORMAL IRIS VASCULATURE(HP:0007905)	[CYP1B1(1545), MYOC(4653)]
ABNORMAL IRON DEPOSITION IN MITOCHONDRIA(HP:0008306)	[ISCU(23479)]
ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN(HP:0003160)	[MPI(4351), ALG1(56052), ALG3(10195), ATP6V0A2(23545), DOLK(22845), ALG6(29929), PMM2(5373), DPM1(8813), MGAT2(4247)]
ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN (TYPE 1 PATTERN)(HP:0003642)	[MPI(4351), ALG1(56052), ALG3(10195), ALG6(29929), PMM2(5373), DPM1(8813)]
ABNORMAL LIVER FUNCTION TESTS(HP:0001411)	[CPT1A(1374), VPS33B(26276), ACAD9(28976), ALG6(29929), BCS1L(617), MVK(4598), HSD17B4(3295), POLG(5428), DPM1(8813), AMACR(23600), SLC22A5(6584), FAH(2184), ABCB4(5244), DGUOK(1716), GNMT(27232), HNF1B(6928), GALT(2592), SBDS(51119), TREX1(11277), UQCRQ(27089), PMM2(5373), HFE(3077), SC5DL(6309), PTRF(284119), UQCRB(7381), ACADM(34), TRMU(55687), SLC37A4(2542), G6PC(2538), AKR1D1(6718), ALDOB(229), PHKG2(5261), C10orf2(56652), SERPINA1(5265), ACOX1(51), HADHB(3032), MPV17(4358), ALMS1(7840), HSD3B7(80270), AGL(178), MRPS16(51021), CPT2(1376), HADHA(3030), JAG1(182)]
ABNORMAL LOCATION OF EARS(HP:0000357)	[MYCN(4613), FBN1(2200), RET(5979), ATRX(546), VPS33B(26276), ATR(545), CCBE1(147372), HSD17B4(3295), EDN3(1908), GLI3(2737), ESCO2(157570), ALX3(257), HRAS(3265), CRLF1(9244), GNE(10020), CHRNA1(1134), UPK3A(7380), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), ROR2(4920), ACOX1(51), RAB3GAP2(25782), GJA1(2697), AP3B1(8546), CHRNG(1146), CREBBP(1387), CHRND(1144), RAB23(51715), CPT2(1376), RAPSN(5913), FGFR1(2260), INPP5E(56623), MECP2(4204), FGFR2(2263), COL11A1(1301), BDNF(627), SOS1(6654), GNS(2799), CECR(1055), IGBP1(3476), KCNJ2(3759), PEX26(55670), NEB(4703), TBCE(6905), TBX1(6899), ICK(22858), PORCN(64840), PEX3(8504), PLOD3(8985), NIPBL(25836), LIFR(3977), TMEM70(54968), OFD1(8481), FAM123B(139285), DOK7(285489), SPRED1(161742), ATPAF2(91647), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), TWIST1(7291), PEX5(5830), PHOX2B(8929), STRA6(64220), BRAF(673), FLNA(2316), MAP2K1(5604), MAP2K2(5605), SOX9(6662), BUB1B(701), ADSL(158), MAPK10(5602), NF1(4763), DNMT3B(1789), BMP4(652), CTSD(1509), LBR(3930), MKS1(54903), ASCL1(429), ARX(170302), RECQL4(9401), KIAA1279(26128), MRPS16(51021), HSPG2(3339), CD96(10225), SEPT9(10801), INSR(3643), ATIC(471), MVK(4598), LMBRD1(55788), ZMPSTE24(10269), MED12(9968), PTPN11(5781), DHCR24(1718), DHCR7(1717), DGCR(1714), AHI1(54806), FAM20C(56975), WNT3(7473), FREM2(341640), GDNF(2668), FRAS1(80144), CHST14(113189), KRAS(3845), HYLS1(219844), TFAP2B(7021), TFAP2A(7020), MMACHC(25974), ATP6V0A2(23545), GBA(2629)]
ABNORMAL LUNG LOBATION(HP:0002101)	[LBR(3930), DHCR7(1717), HYLS1(219844), GLI3(2737)]
ABNORMAL MAGNESIUM METABOLISM(HP:0004921)	[TBCE(6905)]
ABNORMAL METACARPAL MORPHOLOGY(HP:0005916)	[FBN1(2200), GUSB(2990), NPR2(4882), MMP2(4313), ADAMTS10(81794), FGFR1(2260), GALNS(2588), DDR2(4921), FLNA(2316), GLB1(2720)]
ABNORMAL METAPHYSEAL TRABECULATION(HP:0005089)	[LIFR(3977)]
ABNORMAL METAPHYSEAL VASCULAR INVASION(HP:0003562)	[TRPV4(59341)]
ABNORMAL MIDDLE EAR REFLEXES(HP:0004454)	[MYO7A(4647), AAAS(8086), CACNA1A(773), OTOF(9381)]
ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316)	[NDUFAF3(25915), NDUFA11(126328), SDHA(6389), NDUFAF4(29078), NDUFS1(4719), NDUFAF2(91942), NDUFV1(4723), NDUFS2(4720), C20orf7(79133), NDUFS6(4726), NDUFS4(4724), NDUFA1(4694), SDHAF1(644096)]
ABNORMAL MOTOR AND SENSORY NERVE CONDUCTION(HP:0003134)	[TRPV4(59341), HSPB8(26353), SLC12A6(9990), ATXN1(6310), FXN(2395)]
ABNORMAL MUSCLE FIBERS WITH AMORPHOUS, GRANULAR, OR HYALINE DEPOSITS(HP:0003790)	[MYOT(9499), FLNC(2318)]
ABNORMAL MUSCLE TONE(HP:0003808)	[GPHN(10243), MOCS2(4338), MOCS1(4337)]
ABNORMAL MYELINATION(HP:0002520)	[ARSA(410), SH3TC2(79628), STXBP1(6812), ERCC3(2071), SACS(26278), NEFL(4747), SETX(23064), PRPS1(5631), GJC2(57165), HSD17B4(3295), ERCC6(2074), MAT1A(4143), PLP1(5354), SLC16A2(6567), IKBKAP(8518), ABCA1(19), SOX10(6663), COX15(1355), ADSL(158), RAB7A(7879), DNM2(1785), SBF2(81846), GALC(2581), ASPA(443), LRPPRC(10128), SPG11(80208), KIF1B(23095), NTRK1(4914), MTMR2(8898), PEX7(5191), D2HGDH(728294), FGD4(121512), DLD(1738), UPB1(51733), GJB1(2705), SURF1(6834), MCOLN1(57192), L2HGDH(79944), PRX(57716), ACOX1(51), MPZ(4359), ARHGEF10(9639), LITAF(9516), KCNJ10(3766), CTDP1(9150), NDUFS7(374291), CD96(10225), PDHA1(5160), LMNB1(4001), LMNA(4000), GPR56(9289), NDRG1(10397), ERCC8(1161), SDHA(6389), BCS1L(617), MUT(4594), EIF2B2(8892), PSAP(5660), EIF2B5(8893), EGR2(1959), HSPB8(26353), EIF2B4(8890), EIF2B3(8891), TREM2(54209), NDUFA2(4695), EIF2B1(1967), ACY1(95), GDAP1(54332), GFAP(2670), PHGDH(26227), C8orf38(137682), RNASET2(8635), ATN1(1822), MFN2(9927), ALDH3A2(224), WNK1(65125), NDUFS3(4722), NDUFV1(4723), NDUFS4(4724), GAA(2548), TYROBP(7305), APTX(54840), NDUFS8(4728), PMP22(5376), MTTP(4547), SPTLC1(10558), GCDH(2639)]
ABNORMAL MYELINATION IN SURAL NERVE BIOPSIES(HP:0003130)	[ERCC8(1161), ERCC6(2074)]
ABNORMAL NASAL MORPHOLOGY(HP:0005105)	[MYCN(4613), FBN1(2200), AVP(551), ATRX(546), ATR(545), GLI3(2737), NOG(9241), ALX3(257), HRAS(3265), CRLF1(9244), EMG1(10436), UBR1(197131), GNPTAB(79158), GLB1(2720), SC5DL(6309), CHRNA1(1134), GPC3(2719), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), ROR2(4920), ABCC8(6833), SLC9A6(10479), GJA1(2697), CHRNG(1146), POU1F1(5449), SLC17A5(26503), CREBBP(1387), CHRND(1144), CPT2(1376), MAN2B1(4125), KCNJ11(3767), PDHA1(5160), FH(2271), LMNA(4000), FGFR1(2260), NBN(4683), INPP5E(56623), FGFR2(2263), COL11A2(1302), COL11A1(1301), PRPS2(5634), GNS(2799), FGD1(2245), KCNJ2(3759), COL2A1(1280), FUCA1(2517), PEX26(55670), PQBP1(10084), ANKH(56172), TBCE(6905), VPS13B(157680), TRIP11(9321), OPHN1(4983), TBX1(6899), PEX3(8504), PLOD3(8985), NIPBL(25836), OFD1(8481), MOGS(7841), CUL7(9820), PEX19(5824), EP300(2033), PEX2(5828), TWIST1(7291), PEX5(5830), PYCR1(5831), RPS6KA3(6197), PRPS1(5631), ERCC6(2074), BRAF(673), FLNB(2317), MAP2K1(5604), MAP2K2(5605), MID1(4281), BUB1B(701), ADSL(158), AGA(175), LRPPRC(10128), BCOR(54880), BLM(641), GNPAT(8443), AGL(178), RECQL4(9401), KIAA1279(26128), COL1A1(1277), CTSK(1513), JAG1(182), TRPS1(7227), NHS(4810), WHCR(7467), CD96(10225), EHMT1(79813), WHSC1(7468), ERCC8(1161), ATIC(471), ZMPSTE24(10269), EYA1(2138), INS(3630), MED12(9968), PTPN11(5781), DHCR7(1717), AHI1(54806), WRN(7486), FREM2(341640), SMARCAL1(50485), FRAS1(80144), ADAMTSL2(9719), ALG3(10195), GCK(2645), STAT3(6774), TP63(8626), FTO(79068), KRAS(3845), HYLS1(219844), EFNB1(1947), ATP6V0A2(23545), MMP2(4313), GBA(2629), RPS19(6223)]
ABNORMAL NEUROLOGICAL LABORATORY FINDINGS(HP:0003129)	[TH(7054), SH3TC2(79628), ARSA(410), PLA2G6(8398), CHAT(1103), DDC(1644), MYH3(4621), SGCB(6443), CLN6(54982), PRPS1(5631), VAPB(9217), ERCC6(2074), PLP1(5354), NDUFAF2(91942), EDNRB(1910), SOX10(6663), TTR(7276), COX15(1355), ALS2(57679), CLN8(2055), TREX1(11277), ATXN1(6310), COLQ(8292), GALC(2581), PLEKHG5(57449), LRPPRC(10128), NDUFAF3(25915), OTOF(9381), HSPB1(3315), MTMR2(8898), PEX7(5191), DLD(1738), SURF1(6834), PRX(57716), PNPO(55163), CTSD(1509), SCO2(9997), MPZ(4359), C20orf7(79133), CHRNE(1145), ACTA1(58), SLC12A6(9990), CHRNB1(1140), ATP7A(538), NDUFS7(374291), PDHA1(5160), RAPSN(5913), NDRG1(10397), ERCC8(1161), SDHA(6389), BCS1L(617), APOE(348), POLG(5428), MUSK(4593), PRPS2(5634), PSAP(5660), EGR2(1959), PPT1(5538), PSEN1(5663), HSPB8(26353), NDUFA1(4694), NDUFA2(4695), GDAP1(54332), FXN(2395), GFAP(2670), OAT(4942), NEB(4703), C8orf38(137682), OPA1(4976), SMN1(6606), COX6B1(1340), CAV3(859), HSPB3(8988), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), SUMF1(285362), TRPV4(59341), NDUFS3(4722), PHYH(5264), CLN5(1203), NDUFV1(4723), NDUFS2(4720), TPP1(1200), CLN3(1201), IGHMBP2(3508), NDUFS6(4726), NDUFS4(4724), FASTKD2(22868), VRK1(7443), NDUFS8(4728), PMP22(5376), LDB3(11155)]
ABNORMAL NUMBER OF TEETH(HP:0006483)	[BBS5(129880), TRIM32(22954), RPS6KA3(6197), ATR(545), CLDN1(9076), ARL6(84100), CCBE1(147372), TBX3(6926), RBM28(55131), FLNA(2316), EDARADD(128178), FLNB(2317), EDA(1896), IKBKG(8517), ITGB4(3691), SH3BP2(6452), UBR1(197131), BBS9(27241), LAMB3(3914), LAMC2(3918), BCOR(54880), IRF6(3664), LRP5(4041), LAMA3(3909), MKS1(54903), LTBP3(4054), GJA1(2697), NFKBIA(4792), RECQL4(9401), PTHLH(5744), WNT10A(80326), PTH1R(5745), RAB23(51715), CTSK(1513), MSX1(4487), ADAMTS2(9509), MKKS(8195), TRPS1(7227), WHCR(7467), INSR(3643), WHSC1(7468), COL17A1(1308), EVC2(132884), FGFR3(2261), CEP290(80184), BBS12(166379), CDH3(1001), RMRP(6023), APC(324), FGF10(2255), TRIM37(4591), KCNJ2(3759), FGD1(2245), EDAR(10913), EVC(2121), TTC8(123016), PITX2(5308), FOXC1(2296), BBS1(582), BBS2(583), TP63(8626), BBS4(585), PORCN(64840), SLC39A13(91252), RUNX2(860), BBS10(79738), OFD1(8481), BBS7(55212), PVRL1(5818)]
ABNORMAL OR ABSENT AUDITORY NERVE AND BRAINSTEM RESPONSES(HP:0004462)	[OPA1(4976)]
ABNORMAL OR EXCESS NEVI(HP:0003764)	[CD96(10225), CDK4(1019), HPS3(84343), PIK3CA(5290), FGFR3(2261), HPS5(11234), PTEN(5728), HPS1(3257), ROR2(4920), RBM28(55131), PTPN11(5781), PRKAR1A(5573), TRIM37(4591), SOS1(6654), HRAS(3265), BLOC1S3(388552), LEMD3(23592), HPS4(89781), KRT10(3858), HPS6(79803), DTNBP1(84062)]
ABNORMAL ORAL GLUCOSE TOLERANCE(HP:0004924)	[SLC5A1(6523)]
ABNORMAL OSSIFICATION INVOLVING METATARSAL BONES(HP:0008371)	[LRP5(4041), FLNA(2316)]
ABNORMAL OSSIFICATION INVOLVING THE BONES OF THE PELVIS(HP:0009106)	[LBR(3930), COL2A1(1280), RUNX2(860)]
ABNORMAL OSSIFICATION INVOLVING THE FEMORAL HEAD AND NECK(HP:0009107)	[LBR(3930), DYM(54808)]
ABNORMAL OSSIFICATION OF HAND BONES(HP:0005921)	[PTCH1(5727), NSD1(64324), FLNB(2317)]
ABNORMAL OSSIFICATION OF TARSAL BONES(HP:0008369)	[EBP(10682), MATN3(4148), HOXA13(3209), SLC35D1(23169), PTH1R(5745), EIF2AK3(9451), CANT1(124583)]
ABNORMAL OSSIFICATION OF THE PUBIC BONE(HP:0009105)	[COL2A1(1280), RUNX2(860)]
ABNORMAL PALMAR DERMATOGLYPHICS(HP:0001018)	[PEX19(5824), ABCD3(5825), EP300(2033), WHCR(7467), PEX2(5828), EHMT1(79813), WHSC1(7468), PEX5(5830), ATR(545), RPS6KA3(6197), GATA1(2623), CCBE1(147372), GDF5(8200), BRAF(673), B4GALT7(11285), DCR(1637), MAP2K1(5604), MED12(9968), MAP2K2(5605), NOG(9241), HRAS(3265), FGD1(2245), UBR1(197131), PEX26(55670), BMP4(652), VPS13B(157680), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), KRAS(3845), PEX3(8504), B3GALTL(145173), TFAP2A(7020), NIPBL(25836), SEMA3E(9723), LIFR(3977), OFD1(8481), CREBBP(1387), TPM2(7169), DPAGT1(1798), CHST3(9469), CHD7(55636)]
ABNORMAL PLATELET AGGREGATION(HP:0003540)	[JAK2(3717), VWF(7450), ITGB3(3690), P2RY12(64805), MPL(4352), ITGA2B(3674), TBXAS1(6916), PTGS1(5742), THPO(7066), KCNJ1(3758), RUNX1(861)]
ABNORMAL POSTURING(HP:0002533)	[TIMM8A(1678), TOR1A(1861)]
ABNORMAL PROTHROMBIN CONSUMPTION(HP:0003337)	[F11(2160)]
ABNORMAL PUPILLARY LIGHT REFLEXES(HP:0007695)	[SH3TC2(79628)]
ABNORMAL RAPID EYE MOVEMENT (REM) SLEEP(HP:0002494)	[HCRT(3060)]
ABNORMAL REGULATION OF FAT TISSUE METABOLISM(HP:0004361)	[BSCL2(26580), AGPAT2(10555)]
ABNORMAL RESPIRATORY PATTERNS(HP:0002793)	[NDUFS7(374291), TSPYL1(7259), SDHA(6389), DLD(1738), BCS1L(617), SURF1(6834), NDUFS3(4722), NDUFV1(4723), COX15(1355), NDUFS4(4724), NDUFA2(4695), NDUFS8(4728), C8orf38(137682)]
ABNORMAL RETINAL FOLDS(HP:0008052)	[NDP(4693), FZD4(8322), LRP5(4041)]
ABNORMAL RETINAL PIGMENTATION(HP:0007703)	[TRIM37(4591), TSC1(7248), TSC2(7249)]
ABNORMAL ROD AND CONE ELECTRORETINOGRAMS(HP:0008323)	[PDE6B(5158)]
ABNORMAL SIZE OF CORPUS CALLOSUM(HP:0200009)	[VPS13B(157680)]
ABNORMAL SIZE OF THE PALPEBRAL FISSURES(HP:0200007)	[MYCN(4613), HSPG2(3339), SEPT9(10801), TBX15(6913), ATR(545), RAPSN(5913), MYH3(4621), SALL4(57167), STRA6(64220), ERCC6(2074), PAX3(5077), ZMPSTE24(10269), SOX9(6662), DGCR(1714), PHF6(84295), GPC6(10082), KCNJ2(3759), SLC2A10(81031), BCOR(54880), TBX1(6899), TP63(8626), ROR2(4920), LIFR(3977), FOXL2(668), GJA1(2697), DOK7(285489), MOGS(7841), RECQL4(9401)]
ABNORMAL SUBCUTANEOUS FAT TISSUE DISTRIBUTION(HP:0007552)	[PMM2(5373)]
ABNORMAL TENDENCY TO INFECTIONS OF THE SKIN(HP:0002727)	[BTD(686), MEFV(4210), CCBE1(147372), BTK(695), PSTPIP1(9051), CFI(3426)]
ABNORMAL THICKNESS OF CORPUS CALLOSUM(HP:0200010)	[STXBP1(6812), SPG11(80208), MAPK10(5602), TREM2(54209), TYROBP(7305), PTEN(5728)]
ABNORMAL URINARY AMINO-ACID FINDINGS(HP:0003355)	[PEX19(5824), BTD(686), HIBCH(26275), SUCLG1(8802), SUCLA2(8803), SLC19A2(10560), MMAA(166785), MMADHC(27249), PEX5(5830), MCCC2(64087), PRODH(5625), SLC6A19(340024), HMGCL(3155), DNAJC19(131118), ALDH4A1(8659), CTNS(1497), SLC7A7(9056), MTHFR(4524), GUCY2D(3000), GALT(2592), UQCRQ(27089), HLCS(3141), AASS(10157), SLC36A2(153201), UQCRB(7381), ACADM(34), TK2(7084), ACADS(35), GALE(2582), ACADL(33), ASS1(445), PEX10(5192), GRHPR(9380), PEX14(5195), PEX13(5194), ACADVL(37), PEX1(5189), D2HGDH(728294), FTCD(10841), ASL(435), ETFDH(2110), ETFB(2109), ETFA(2108), C10orf2(56652), MPV17(4358), AGXT(189), UMPS(7372), ATP7B(540), NAGA(4668), ETHE1(23474), CPT2(1376), SLC6A20(54716), FH(2271), ACAD9(28976), OCRL(4952), BCS1L(617), SLC1A1(6505), POLG(5428), LMBRD1(55788), MUT(4594), DGUOK(1716), SLC3A1(6519), CYP27B1(1594), SLC2A2(6514), GSS(2937), CBS(875), PEX26(55670), CLCN5(1184), MMAB(326625), COX6B1(1340), ALDOB(229), ARG1(383), PEX3(8504), SLC7A9(11136), MMACHC(25974), HADHB(3032), TMEM70(54968), HADH(3033), IVD(3712), FASTKD2(22868), MTRR(4552), MCEE(84693), HPD(3242), CASR(846), ATPAF2(91647), HADHA(3030), GCDH(2639)]
ABNORMAL VESTIBULOOCULAR REFLEX(HP:0007670)	[MYO7A(4647), AAAS(8086), CACNA1A(773)]
ABNORMAL VISUAL PURSUIT(HP:0008029)	[TSEN54(283989)]
ABNORMAL WEAKNESS OF MUSCLES OF RESPIRATION(HP:0004347)	[CHAT(1103), SUCLA2(8803), CPOX(1371), RAPSN(5913), MUSK(4593), POLG(5428), CRYAB(1410), COL6A1(1291), HMBS(3145), COL6A2(1292), COL6A3(1293), ALAD(210), NEB(4703), CHRNA1(1134), TK2(7084), COLQ(8292), PLEKHG5(57449), COX6B1(1340), LAMA2(3908), DOK7(285489), CHRNE(1145), FASTKD2(22868), CHRND(1144), GAA(2548), ACTA1(58), AGRN(375790), CHRNB1(1140), CNTN1(1272), FHL1(2273)]
ABNORMAL, JERKY EYE MOVEMENTS(HP:0000628)	[TMEM216(51259), INPP5E(56623)]
ABNORMALITIES OF DENTAL ERUPTION(HP:0006292)	[TNFSF11(8600), TRPS1(7227), INSR(3643), ZEB2(9839), ERCC8(1161), FGFR1(2260), CCBE1(147372), NSD1(64324), EVC2(132884), FGFR3(2261), VDR(7421), FGFR2(2263), ERCC6(2074), KRT17(3872), ZMPSTE24(10269), FLNA(2316), GLI3(2737), IDS(3423), IKBKG(8517), APC(324), FGF10(2255), DSP(1832), CYP27B1(1594), MAPK10(5602), KCNJ2(3759), EVC(2121), KRT6B(3854), GNAS(2778), BCOR(54880), SEC23A(10484), PORCN(64840), SLC39A13(91252), ROR2(4920), NIPBL(25836), RUNX2(860), MKS1(54903), FAM123B(139285), MMP2(4313), GJA1(2697), RECQL4(9401), CHST3(9469), PTHLH(5744), PTH1R(5745), RAB23(51715), CTSK(1513)]
ABNORMALITIES OF PLACENTA AND UMBILICAL CORD(HP:0001194)	[MKS1(54903), HOXD13(3239), DOK7(285489), RAPSN(5913), POR(5447), WNT3(7473), ZMPSTE24(10269)]
ABNORMALITIES OF RENIN-ANGIOTENSIN SYSTEM(HP:0000847)	[KCNJ10(3766), SLC12A3(6559), SLC12A1(6557), CLCNKB(1188), KCNJ1(3758)]
ABNORMALITIES OF THE AORTA(HP:0001679)	[FBN1(2200), FBN2(2201), HCCS(3052), TGFBR2(7048), EFEMP2(30008), TGFBR1(7046), LOX(4015), STRA6(64220), FGFR2(2263), GLI3(2737), FLNB(2317), MED12(9968), COL5A2(1290), PTPN11(5781), MYH11(4629), HGD(3081), COL5A1(1289), DHCR7(1717), DGCR(1714), FBLN5(10516), TBX1(6899), MKS1(54903), GBA(2629), CRELD1(78987), COL1A2(1278), RPS19(6223), COL1A1(1277), JAG1(182)]
ABNORMALITIES OF THE CEREBRAL ARTERIES(HP:0009145)	[JAK2(3717), SMARCAL1(50485), TGFBR2(7048), APP(351), GAA(2548), TGFBR1(7046), COL3A1(1281), PLOD3(8985), PKD2(5311), PKD1(5310)]
ABNORMALITIES OF THE CLOTTING FACTORS(HP:0003256)	[VWF(7450), LMAN1(3998), F8(2157), MCFD2(90411), F5(2153)]
ABNORMALITIES OF THE COSTOCHONDRAL JUNCTION(HP:0000919)	[NOG(9241), CYP27B1(1594), SBDS(51119), SLC34A3(142680), ALPL(249), DYM(54808), FGFR3(2261), VDR(7421), DDR2(4921), CYP2R1(120227), CTNS(1497)]
ABNORMALITIES OF THE PERIPHERAL ARTERIES(HP:0005114)	[ELN(2006), ABCC6(368), AGXT(189), APOE(348)]
ABNORMALITIES OF THE VERTEBRAE(HP:0003468)	[FKRP(79147), GUSB(2990), NPR2(4882), ATRX(546), SALL4(57167), GLI3(2737), IKBKG(8517), NOG(9241), MATN3(4148), PAPSS2(9060), PTCH1(5727), IHH(3549), GNPTAB(79158), GLB1(2720), SC5DL(6309), CHRNA1(1134), GPC3(2719), CRTAP(10491), SEC23A(10484), AIP(9049), LRP5(4041), PEX7(5191), B3GALTL(145173), UROS(7390), ROR2(4920), DDR2(4921), GJA1(2697), CHRNG(1146), CHRND(1144), POR(5447), VANGL1(81839), NAGLU(4669), TNFRSF11A(8792), MAN2B1(4125), ATP7A(538), TRAPPC2(6399), COMP(1311), FGFR1(2260), FGFR3(2261), COL9A1(1297), OCRL(4952), FGFR2(2263), COL11A2(1302), COL11A1(1301), SLC26A2(1836), GNS(2799), SBDS(51119), COL2A1(1280), FUCA1(2517), CBS(875), GDF6(392255), ACVR1(90), FOXC2(2303), ADA(100), TRIP11(9321), PLOD3(8985), EBP(10682), TRPV4(59341), DLL3(10683), CUL7(9820), CHD7(55636), ARSB(411), TBX15(6913), ERCC6(2074), FLNA(2316), PLOD2(5352), FLNB(2317), SGSH(6448), SOX2(6657), SLC35D1(23169), TCIRG1(10312), AGA(175), GALNS(2588), LBR(3930), GNPAT(8443), COL1A2(1278), RECQL4(9401), ACAN(176), COL1A1(1277), JAG1(182), HSPG2(3339), WHCR(7467), SQSTM1(8878), WHSC1(7468), MMP13(4322), PAX3(5077), MED12(9968), RMRP(6023), HGD(3081), DYM(54808), SH3PXD2B(285590), SMARCAL1(50485), HGSNAT(138050), SOST(50964), WISP3(8838), SLC39A13(91252), SEMA3E(9723), EIF2AK3(9451), MMP2(4313), GORAB(92344), GBA(2629), ALPL(249), CHST3(9469), RPS19(6223), LEPRE1(64175)]
ABNORMALITY INVOLVING THE DIAPHYSES OF THE LIMBS(HP:0006504)	[LBR(3930), ANO5(203859), FLNA(2316)]
ABNORMALITY INVOLVING THE EPIPHYSES OF THE LIMBS(HP:0006505)	[TRAPPC2(6399), HSPG2(3339), RET(5979), TBX4(9496), TRPS1(7227), WHCR(7467), NPR2(4882), WHSC1(7468), ATR(545), ERCC8(1161), EVC2(132884), FGFR3(2261), GDF5(8200), MGP(4256), ERCC6(2074), COL11A2(1302), COL11A1(1301), FLNA(2316), SLC26A2(1836), RMRP(6023), MATN3(4148), SBDS(51119), DYM(54808), COL2A1(1280), IHH(3549), EVC(2121), SMARCAL1(50485), ADAMTSL2(9719), SALL1(6299), PCNT(5116), WISP3(8838), PLOD3(8985), SLC39A13(91252), EIF2AK3(9451), RUNX2(860), GNPAT(8443), GNPTG(84572), ACAN(176), BMPR1B(658)]
ABNORMALITY INVOLVING THE EPIPHYSES OF THE LOWER LIMBS(HP:0006500)	[SMARCAL1(50485), TRAPPC2(6399), HSPG2(3339), RET(5979), ADAMTSL2(9719), TBX4(9496), TRPS1(7227), PCNT(5116), WISP3(8838), PLOD3(8985), SLC39A13(91252), COL11A2(1302), COL11A1(1301), SLC26A2(1836), SBDS(51119), MATN3(4148), DYM(54808), GNPTG(84572), ACAN(176), COL2A1(1280), IHH(3549)]
ABNORMALITY INVOLVING THE EPIPHYSES OF THE UPPER LIMBS(HP:0003839)	[TRPS1(7227), WHCR(7467), SALL1(6299), NPR2(4882), WHSC1(7468), PCNT(5116), ATR(545), ERCC8(1161), FGFR3(2261), EVC2(132884), MGP(4256), GDF5(8200), ERCC6(2074), FLNA(2316), EIF2AK3(9451), RUNX2(860), RMRP(6023), GNPAT(8443), DYM(54808), COL2A1(1280), IHH(3549), EVC(2121), BMPR1B(658)]
ABNORMALITY INVOLVING THE METAPHYSES OF THE LIMBS(HP:0006506)	[FGFR3(2261)]
ABNORMALITY OF ACID-BASE METABOLISM(HP:0004360)	[CPT1A(1374), SUCLG1(8802), CPS1(1373), FBP1(2203), AUH(549), SUCLA2(8803), MMAA(166785), VPS33B(26276), POLG2(11232), MCCC1(56922), SLC7A7(9056), COX15(1355), COQ2(27235), GYS2(2998), TYMP(1890), UQCRB(7381), ACADM(34), TK2(7084), ACADS(35), MRPS22(56945), AIP(9049), ATP6V1B1(525), NEUROG3(50674), GK(2710), SURF1(6834), C10orf2(56652), SCO2(9997), C20orf7(79133), SLC12A3(6559), DBT(1629), MPV17(4358), SLC12A1(6557), UMPS(7372), PUS1(80324), KCNJ10(3766), NDUFS7(374291), PDHA1(5160), FH(2271), OCRL(4952), SDHA(6389), BCS1L(617), POLG(5428), TSFM(10102), PDP1(54704), PDSS2(57107), BSND(7809), NDUFA1(4694), NDUFA2(4695), PDSS1(23590), KCNJ1(3758), CYP17A1(1586), C8orf38(137682), SLC37A4(2542), COX6B1(1340), G6PC(2538), ARG1(383), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), SLC26A3(1811), TAZ(6901), BCKDHA(593), WNK1(65125), NDUFS3(4722), DPYS(1807), NDUFV1(4723), NDUFS2(4720), HADHB(3032), TMEM70(54968), BCKDHB(594), NDUFS6(4726), CLDN16(10686), IVD(3712), FASTKD2(22868), NDUFS4(4724), OGDH(4967), SCNN1G(6340), HPD(3242), NDUFS8(4728), ATPAF2(91647), HADHA(3030), SDHAF1(644096), MLYCD(23417), SCNN1B(6338), HSD17B10(3028), BTD(686), SLC4A4(8671), LCT(3938), LDHA(3939), NDUFAF2(91942), OTC(5009), HMGCL(3155), CTNS(1497), GALT(2592), UQCRQ(27089), HLCS(3141), FN1(2335), TRMU(55687), LRPPRC(10128), NDUFAF3(25915), ASS1(445), DLAT(1737), ASL(435), DLD(1738), ETFDH(2110), ETFB(2109), ETFA(2108), PNPO(55163), INVS(27130), ADAMTS13(11093), GFM1(85476), AGXT(189), PDHX(8050), MRPS16(51021), ETHE1(23474), ISCU(23479), MUT(4594), DGUOK(1716), CA2(760), SLC17A3(10786), SLC2A2(6514), GSS(2937), SLC4A1(6521), SLC5A1(6523), CLCNKA(1187), COQ9(57017), MMAB(326625), CLCNKB(1188), ALDOB(229), PHKG2(5261), MMACHC(25974), WNK4(65266), PCCB(5096), MCEE(84693), APTX(54840), PC(5091), NR3C1(2908), PCCA(5095), GCDH(2639), CABC1(56997)]
ABNORMALITY OF ADIPOSE TISSUE(HP:0009124)	[FBN1(2200), BSCL2(26580), LMNB2(84823), PPARG(5468), INSR(3643), LMNA(4000), C3(718), ERCC8(1161), ERCC6(2074), ZMPSTE24(10269), PPP1R3A(5506), ATP6V0A2(23545), AGPAT2(10555)]
ABNORMALITY OF ALDOSTERONE PRODUCTION(HP:0002855)	[KCNJ10(3766), CLCNKA(1187), CLCNKB(1188), LHX4(89884), SLC26A3(1811), HSD11B2(3291), PROP1(5626), AIRE(326), BSND(7809), SLC12A1(6557), SCNN1G(6340), KCNJ1(3758), CYP11B2(1585), SCNN1B(6338), CYP11B1(1584)]
ABNORMALITY OF ALKALINE PHOSPHATASE ACTIVITY(HP:0004379)	[VCP(7415), PRKCSH(5589), PHEX(5251), SQSTM1(8878), SLC39A4(55630), SOST(50964), BCR(613), AKR1D1(6718), VDR(7421), FGF23(8074), CYP2R1(120227), CSF3R(1441), CYP27B1(1594), SLC2A2(6514), ALPL(249), SLC34A3(142680), SEC63(11231), ABCB11(8647), TNFRSF11A(8792), PTH1R(5745), TCIRG1(10312), SC5DL(6309)]
ABNORMALITY OF AMINO ACID METABOLISM(HP:0004337)	[AMT(275), HIBCH(26275), SUCLG1(8802), SUCLA2(8803), MMAA(166785), MMADHC(27249), MCCC2(64087), MAT1A(4143), SLC6A19(340024), DNAJC19(131118), FAH(2184), SLC7A7(9056), GLDC(2731), GUCY2D(3000), GNMT(27232), UQCRB(7381), TK2(7084), ACADM(34), ACADS(35), ACADL(33), PEX10(5192), PEX14(5195), ACADVL(37), PEX13(5194), PEX1(5189), C10orf2(56652), DBT(1629), MPV17(4358), UMPS(7372), ATP7B(540), NAGA(4668), SUOX(6821), CPT2(1376), SLC6A20(54716), FH(2271), PDHA1(5160), OCRL(4952), BCS1L(617), POLG(5428), CYP27B1(1594), CBS(875), PEX26(55670), COX6B1(1340), TNFRSF11B(4982), ARG1(383), PEX3(8504), SLC7A9(11136), BCKDHA(593), HADHB(3032), TMEM70(54968), BCKDHB(594), HADH(3033), IVD(3712), FASTKD2(22868), HPD(3242), CASR(846), ATPAF2(91647), HADHA(3030), PEX19(5824), BTD(686), SLC25A13(10165), SLC19A2(10560), PEX5(5830), PRODH(5625), OTC(5009), HMGCL(3155), ALDH4A1(8659), CTNS(1497), MTHFR(4524), GALT(2592), UQCRQ(27089), HLCS(3141), AASS(10157), SLC36A2(153201), PAH(5053), GALE(2582), GRHPR(9380), ASS1(445), QDPR(5860), D2HGDH(728294), FTCD(10841), ASL(435), DLD(1738), ETFDH(2110), ETFB(2109), ETFA(2108), AHCY(191), AGXT(189), PDHX(8050), ETHE1(23474), SPR(6697), ACAD9(28976), LMBRD1(55788), SLC1A1(6505), MUT(4594), GPHN(10243), DGUOK(1716), SLC3A1(6519), SLC2A2(6514), GSS(2937), MOCS2(4338), MOCS1(4337), GCH1(2643), MMAB(326625), CLCN5(1184), DECR1(1666), ALDOB(229), PTS(5805), GCSH(2653), MMACHC(25974), PCCB(5096), MTRR(4552), MCEE(84693), MTR(4548), PC(5091), PCBD1(5092), PCCA(5095), GCDH(2639)]
ABNORMALITY OF AMMONIA METABOLISM(HP:0004364)	[SLC25A15(10166), CPT1A(1374), BTD(686), CPS1(1373), MMAA(166785), GLUD1(2746), NAGS(162417), ALDH18A1(5832), OTC(5009), MCCC1(56922), HMGCL(3155), MUT(4594), SLC22A5(6584), SLC7A7(9056), IKBKAP(8518), HLCS(3141), CFH(3075), MMAB(326625), SLC25A20(788), ASS1(445), ARG1(383), ASL(435), INVS(27130), PCCB(5096), TMEM70(54968), ADAMTS13(11093), CPT2(1376), ATPAF2(91647), PCCA(5095)]
ABNORMALITY OF B-CELLS(HP:0002846)	[CD40(958), CD40LG(959), ERCC2(2068), SPINK5(11005), SH2D1A(4068), ERCC3(2071), SETX(23064), ITK(3702), CIITA(4261), B2M(567), BTK(695), PMM2(5373), CD19(930), TCN2(6948), SP110(3431), BLM(641), IL2RG(3561), RFX5(5993), GTF2H5(404672), RFXAP(5994), ELANE(1991), UNG(7374), ICOS(29851), MAN2B1(4125), ATM(472), TNFRSF13B(23495), NBN(4683), MVK(4598), HBG1(3047), RAG2(5897), RAG1(5896), SMARCAL1(50485), PTRF(284119), CNBP(7555), ADA(100), KRT1(3848), SFTPA2(729238), DCLRE1C(64421), ROBLD3(28956), PSG1(5669), RFXANK(8625), AICDA(57379), PCCB(5096), KLHDC8B(200942), KRT16(3868), WAS(7454), PNP(4860), FAS(355), CASP10(843), CXCR4(7852), CASP8(841), KRT9(3857), PCCA(5095)]
ABNORMALITY OF B-VITAMIN METABOLISM(HP:0004340)	[TTR(7276), SUCLA2(8803), MMAB(326625), MMADHC(27249), MMAA(166785), MTRR(4552), MCEE(84693), MTR(4548), LMBRD1(55788), MMACHC(25974), MUT(4594)]
ABNORMALITY OF BODY HEIGHT(HP:0000002)	[FBN1(2200), RET(5979), FBN2(2201), ATRX(546), NPR2(4882), TGFBR2(7048), ATR(545), TGFBR1(7046), AVPR2(554), H19(283120), TGFB1(7040), DCR(1637), SLC35C1(55343), KCNQ1OT1(10984), ABAT(18), THRB(7068), HRAS(3265), HESX1(8820), ADAMTS10(81794), FANCD2(2177), FANCC(2176), CTSA(5476), PPIB(5479), FANCE(2178), UBR1(197131), GNPTAB(79158), GLB1(2720), GPC3(2719), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), SLC6A8(6535), DDR2(4921), MCPH1(79648), SLC29A3(55315), GTF2H5(404672), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), POU1F1(5449), SLC12A1(6557), GHSR(2693), ACTA1(58), GH1(2688), ATP7A(538), GHR(2690), KCNJ10(3766), ZEB2(9839), LHX4(89884), FGFR1(2260), FGFR3(2261), OCRL(4952), GDF5(8200), FGFR2(2263), FGF23(8074), CDKN1C(1028), AAAS(8086), SOS1(6654), SBDS(51119), UROC1(131669), FGD1(2245), KCNJ1(3758), CYP19A1(1588), GDF6(392255), CYP11B1(1584), FOXC2(2303), HPRT1(3251), HPGD(3248), GNAS(2778), TRIP11(9321), TNFRSF11B(4982), TNNI2(7136), TNNT3(7140), NIPBL(25836), TRPV4(59341), TMEM70(54968), KDM5C(8242), FAM123B(139285), HOXD13(3239), CUL7(9820), GNPTG(84572), SMS(6611), SDHAF1(644096), MLYCD(23417), SMPD1(6609), ERCC2(2068), TBX15(6913), ERCC3(2071), GATA1(2623), STRA6(64220), ERCC6(2074), BRAF(673), B4GALT7(11285), PROP1(5626), MAP2K1(5604), MAP2K2(5605), BUB1B(701), BTK(695), LHX3(8022), DNMT3B(1789), AGA(175), BCOR(54880), GALNS(2588), DKC1(1736), GNPAT(8443), COL1A2(1278), AGL(178), RECQL4(9401), ZNF469(84627), ACAN(176), COL1A1(1277), RAB3GAP1(22930), BMPR1B(658), GJB6(10804), EXT2(2132), SEPT9(10801), INSR(3643), EXT1(2131), ERCC8(1161), MVK(4598), MED12(9968), RMRP(6023), CA2(760), TRIM37(4591), DHCR7(1717), DGCR(1714), WRN(7486), DYM(54808), WNT7A(7476), EVC(2121), SMARCAL1(50485), SHH(6469), CLCN5(1184), PCNT(5116), VLDLR(7436), SOST(50964), ROBLD3(28956), FANCA(2175), SLC39A13(91252), ALDOA(226), EIF2AK3(9451), SHOX(6473), ALDH3A2(224), PCCB(5096), GORAB(92344), GBA(2629), ALPL(249), CHST3(9469), PCCA(5095), LEPRE1(64175), GUSB(2990), MYH3(4621), AGPS(8540), NSD1(64324), SLC6A19(340024), IKBKG(8517), ESCO2(157570), MYH8(4626), MATN3(4148), PAPSS2(9060), IHH(3549), MC2R(4158), CANT1(124583), SEPN1(57190), PEX7(5191), LRP5(4041), PTEN(5728), UROS(7390), LTBP3(4054), CREBBP(1387), SIL1(64374), ATP8B1(5205), PTHLH(5744), RAB23(51715), PTH1R(5745), ADAMTS2(9509), TRAPPC2(6399), COMP(1311), HCCS(3052), COL9A3(1299), COL9A2(1298), EVC2(132884), SDHA(6389), NBN(4683), MECP2(4204), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), COL5A2(1290), COL6A1(1291), SPG20(23111), CUL4B(8450), COL5A1(1289), PHF6(84295), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), COL2A1(1280), IGF1R(3480), FUCA1(2517), COL3A1(1281), CBS(875), PQBP1(10084), NEB(4703), BSCL2(26580), TBCE(6905), SLC37A4(2542), VPS13B(157680), SLC39A4(55630), G6PC(2538), TBX1(6899), PORCN(64840), LIFR(3977), RUNX2(860), DLL3(10683), OFD1(8481), AQP2(359), ALMS1(7840), CASP8(841), ATPAF2(91647), ARSB(411), PLOD1(5351), EP300(2033), ARSE(415), TWIST1(7291), LARGE(9215), RPS6KA3(6197), ALDH18A1(5832), FLNA(2316), PLOD2(5352), CTNS(1497), FLNB(2317), IDS(3423), SOX9(6662), SOX2(6657), NF1(4763), NSDHL(50814), SLC35D1(23169), ABCB11(8647), AASS(10157), NEU1(4758), LBR(3930), ARX(170302), MBTPS2(51360), CTSK(1513), MGAT2(4247), PLEC(5339), CTDP1(9150), HSPG2(3339), TRPS1(7227), CD96(10225), ZBTB16(7704), ATM(472), PTPN11(5781), L1CAM(3897), TRH(7200), ADAMTSL2(9719), PHEX(5251), HYAL1(3373), TP63(8626), PHKB(5257), KRAS(3845), EFNB1(1947), MMP2(4313), TPM2(7169), AGPAT2(10555), RPS19(6223)]
ABNORMALITY OF BODY WEIGHT(HP:0004323)	[ATRX(546), BBS5(129880), MYH3(4621), EPCAM(4072), ANCR(282), DCTN1(1639), H19(283120), SLC7A7(9056), PDE11A(50940), THRB(7068), NPHS1(4868), CDKL5(6792), FANCD2(2177), FANCC(2176), TYMP(1890), FANCE(2178), EMG1(10436), UBR1(197131), BBS9(27241), CANT1(124583), PPARG(5468), SEPN1(57190), AIP(9049), LRP5(4041), NEUROG3(50674), B3GALTL(145173), GNASAS(149775), SLC6A8(6535), MCPH1(79648), ABCC8(6833), VSX1(30813), GTF2H5(404672), SLC9A6(10479), GJA1(2697), SLC12A1(6557), POR(5447), FST(10468), ALDH5A1(7915), RAB23(51715), ACTB(60), MKKS(8195), KCNJ11(3767), SNRPN(6638), PDHA1(5160), RAPSN(5913), INPP5E(56623), APOE(348), MECP2(4204), BBS12(166379), POLG(5428), COL6A1(1291), CUL4B(8450), NDN(4692), PHF6(84295), IGF1(3479), SBDS(51119), COL6A2(1292), COL6A3(1293), KCNJ1(3758), IGF1R(3480), UBE3A(7337), HCRT(3060), TTC8(123016), GNAS(2778), VPS13B(157680), MC4R(4160), BBS1(582), BBS2(583), TBX1(6899), BBS4(585), PCSK1(5122), SNCA(6622), BBS10(79738), HADHB(3032), LIPA(3988), IGHMBP2(3508), BBS7(55212), DOK7(285489), ALMS1(7840), CUL7(9820), HADHA(3030), SMPD1(6609), PRNP(5621), ERCC2(2068), TRIM32(22954), ERCC3(2071), RPS6KA3(6197), ARL6(84100), TBX3(6926), SFTPC(6440), ERCC6(2074), BUB1B(701), NR0B2(8431), SPG11(80208), TSHR(7253), MKS1(54903), PRKAR1A(5573), JPH3(57338), COL1A1(1277), MRPS16(51021), STX16(8675), CNTN1(1272), WHCR(7467), EHMT1(79813), INSR(3643), WHSC1(7468), FZD4(8322), CEP290(80184), INS(3630), DGCR(1714), SLC2A2(6514), NME1(4830), GCK(2645), PCNT(5116), FANCA(2175), FTO(79068), PTS(5805), GBA(2629), SIM1(6492)]
ABNORMALITY OF BONE MINERAL DENSITY(HP:0004348)	[FBN1(2200), AVP(551), SLC34A1(6569), FBN2(2201), TINF2(26277), SALL4(57167), AGPS(8540), LMBR1(64327), VDR(7421), HSD17B4(3295), TGFB1(7040), FAH(2184), ESCO2(157570), PDE11A(50940), SLC7A7(9056), THRB(7068), PAPSS2(9060), MATN3(4148), PTCH1(5727), FANCD2(2177), FANCC(2176), IHH(3549), FANCE(2178), GNPTAB(79158), GLB1(2720), SC5DL(6309), CANT1(124583), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), CRTAP(10491), PEX1(5189), AIP(9049), SEC23A(10484), PEX7(5191), LRP5(4041), GK(2710), PTEN(5728), UROS(7390), DDR2(4921), LTBP3(4054), FSHR(2492), GJA1(2697), SLC17A5(26503), SLC12A1(6557), ATP7B(540), NAGA(4668), TNFRSF11A(8792), PTH1R(5745), NAGLU(4669), ADAMTS2(9509), ATP7A(538), SNRPN(6638), ENPP1(5167), COMP(1311), LMNA(4000), COL9A3(1299), FGFR3(2261), OCRL(4952), GDF5(8200), FGF23(8074), CYP2R1(120227), FAM134B(54463), SLC26A2(1836), FGF10(2255), NDN(4692), CYP27B1(1594), IGF1(3479), CECR(1055), CYP27A1(1593), SBDS(51119), LEMD3(23592), HOXA13(3209), KCNJ1(3758), COL2A1(1280), CBS(875), COL3A1(1281), PEX26(55670), PTRF(284119), TBCE(6905), GNAS(2778), HPGD(3248), SLC37A4(2542), TRIP11(9321), TNFRSF11B(4982), G6PC(2538), PEX3(8504), PLOD3(8985), LIFR(3977), RUNX2(860), EBP(10682), TRPV4(59341), WNK1(65125), FAM123B(139285), HOXD13(3239), ALMS1(7840), CTSC(1075), SMS(6611), SMPD1(6609), PEX19(5824), ABCD3(5825), PLOD1(5351), TBXAS1(6916), PEX2(5828), ARSE(415), PEX5(5830), RPS6KA3(6197), MGP(4256), ERCC6(2074), BRAF(673), FLNA(2316), B4GALT7(11285), PLOD2(5352), CTNS(1497), FLNB(2317), MAP2K1(5604), SGSH(6448), MAP2K2(5605), SLC35D1(23169), NSDHL(50814), SLC9A3R1(9368), PMM2(5373), NEU1(4758), ANO5(203859), ASPA(443), GALNS(2588), DKC1(1736), LBR(3930), PRKAR1A(5573), DLX3(1747), MIPOL1(145282), GNPAT(8443), AGXT(189), COL1A2(1278), RECQL4(9401), COL1A1(1277), CTSK(1513), RAB3GAP1(22930), DMP1(1758), MGAT2(4247), TNFSF11(8600), HSPG2(3339), TRPS1(7227), WHCR(7467), SQSTM1(8878), CD96(10225), WHSC1(7468), GGCX(2677), ERCC8(1161), ZMPSTE24(10269), DHCR24(1718), MED12(9968), RMRP(6023), CA2(760), WRN(7486), SLC2A2(6514), FAM20C(56975), DYM(54808), WNT7A(7476), SLC4A1(6521), HFE(3077), SMARCAL1(50485), ADAMTSL2(9719), CLCN7(1186), CLCN5(1184), PHEX(5251), HGSNAT(138050), STAT3(6774), TERC(7012), TERT(7015), SOST(50964), FANCA(2175), WISP3(8838), KRAS(3845), SLC39A13(91252), SUMF1(285362), EIF2AK3(9451), COX4I2(84701), PCCB(5096), ANTXR2(118429), MMP2(4313), GORAB(92344), SLC34A3(142680), ALPL(249), PCCA(5095), LEPRE1(64175)]
ABNORMALITY OF CALCIUM METABOLISM(HP:0004363)	[RET(5979)]
ABNORMALITY OF CARBOXYLIC ACID METABOLISM(HP:0004354)	[ACADM(34), GPHN(10243), HADHB(3032), HADH(3033), ACADL(33), ACAD9(28976), ACADVL(37), CPT2(1376), MOCS2(4338), MOCS1(4337)]
ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665)	[SCN5A(6331), CPT1A(1374), RET(5979), FBP1(2203), DMPK(1760), CPOX(1371), SCN9A(6335), PPOX(5498), POLG2(11232), ERCC6(2074), ANK2(287), TGFB3(7043), DNAJC19(131118), IKBKAP(8518), TTR(7276), THRB(7068), HMBS(3145), TTN(7273), NPPA(4878), HCN4(10021), FMO3(2328), NKX2-5(1482), GLA(2717), PKP2(5318), SYNE2(23224), SLC25A20(788), GPC3(2719), ACADL(33), KIF1B(23095), TSPYL1(7259), ACADVL(37), EMD(2010), TSHR(7253), PEX7(5191), TSC1(7248), TSC2(7249), CACNA1C(775), GJA5(2702), KCNE2(9992), GJA1(2697), AGXT(189), CSRP3(8048), KCNQ1(3784), LAMP2(3920), DMD(1756), CPT2(1376), ISCU(23479), RYR2(6262), MYBPC3(4607), ACTC1(70), HCCS(3052), LMNA(4000), SDHD(6392), ERCC8(1161), SDHC(6391), SDHB(6390), MECP2(4204), KCTD7(154881), PRKAG2(51422), PTPN11(5781), DSP(1832), KCNJ2(3759), DSG2(1829), KCNH2(3757), DSC2(1824), HFE(3077), KCNE1(3753), PTRF(284119), FOXC2(2303), CNBP(7555), JUP(3728), GNAI2(2771), DES(1674), VHL(7428), PHYH(5264), GAA(2548), FHL1(2273), PAX8(7849)]
ABNORMALITY OF CARPAL BONE OSSIFICATION(HP:0006257)	[TRPV4(59341), RMRP(6023), GPC3(2719), MATN3(4148), HOXA13(3209), SLC35D1(23169), PTH1R(5745), IHH(3549), CANT1(124583)]
ABNORMALITY OF CARTILAGE(HP:0002763)	[ABCD3(5825), PEX2(5828), COL2A1(1280), PTH1R(5745)]
ABNORMALITY OF CD4+ T CELLS(HP:0005480)	[CD40LG(959), CASP8(841), IL2RG(3561)]
ABNORMALITY OF CD8+ T CELLS(HP:0005481)	[CD8A(925), RAG2(5897), ATM(472), RAG1(5896), IL2RG(3561)]
ABNORMALITY OF CEREBROSIDASE METABOLISM(HP:0004344)	[GBA(2629)]
ABNORMALITY OF CHOLESTEROL METABOLISM(HP:0003107)	[SAR1B(51128), RET(5979), PEX2(5828), MMAA(166785), MMADHC(27249), APOB(338), LMNA(4000), LDLR(3949), APOA2(336), SDHD(6392), SDHB(6390), OCRL(4952), DHCR24(1718), ABCA1(19), LPL(4023), DHCR7(1717), NPC2(10577), NPC1(4864), ALAS2(212), NSDHL(50814), PMM2(5373), PEX26(55670), SC5DL(6309), PPARG(5468), MMAB(326625), ABCG8(64241), ABCG5(64240), KIF1B(23095), PEX1(5189), PHKA2(5256), MMACHC(25974), VHL(7428), EBP(10682), LCAT(3931), PPP1R3A(5506), LBR(3930), LIPA(3988), ALMS1(7840), APTX(54840), JAG1(182), SMPD1(6609)]
ABNORMALITY OF COAGULATION(HP:0001928)	[SLC25A15(10166), P2RY12(64805), TBXAS1(6916), PEX2(5828), VPS33B(26276), SERPINF2(5345), GATA1(2623), CD36(948), HPS5(11234), FERMT3(83706), PROC(5624), DPM1(8813), FLNA(2316), PROS1(5627), ITGB3(3690), FAH(2184), BLOC1S3(388552), MYH9(4627), FANCD2(2177), UQCRQ(27089), FANCC(2176), PMM2(5373), FANCE(2178), UQCRB(7381), TRMU(55687), PRKCSH(5589), ITGA2B(3674), SERPINE1(5054), ABCG8(64241), PTGS1(5742), ABCG5(64240), PEX1(5189), AKR1D1(6718), C10orf2(56652), MPV17(4358), ACP2(53), SEC63(11231), HPS6(79803), MGAT2(4247), GP1BA(2811), SERPIND1(3053), GP9(2815), GP1BB(2812), GGCX(2677), B4GALT1(2683), ALG6(29929), BCS1L(617), AMACR(23600), MPI(4351), PTPN11(5781), SERPINC1(462), DGUOK(1716), FGB(2244), PEX26(55670), FGA(2243), DTNBP1(84062), F13B(2165), TEK(7010), F13A1(2162), F12(2161), G6PC(2538), F11(2160), HPS3(84343), FANCA(2175), HPS1(3257), MCFD2(90411), VWF(7450), FCGR2C(9103), F2(2147), HSD3B7(80270), HPS4(89781), LMAN1(3998), F9(2158), F10(2159), F8(2157), F7(2155), F5(2153)]
ABNORMALITY OF COCHLEA(HP:0000375)	[SLC26A4(5172), EYA1(2138)]
ABNORMALITY OF COGNITION(HP:0002302)	[PRNP(5621), AMN(81693), VCP(7415), PLA2G6(8398), MAPT(4137), SPG7(6687), SPAST(6683), ATXN7(6314), CP(1356), PDE11A(50940), LRRK2(120892), TTR(7276), NPC2(10577), ATXN3(4287), NPC1(4864), CUBN(8029), FA2H(79152), ATXN2(6311), MFSD8(256471), VPS13A(23230), IRF6(3664), TSC1(7248), PRKAR1A(5573), JPH3(57338), PRKCG(5582), ATP7B(540), OPA3(80207), DBH(1621), UCHL1(7345), ATP1A2(477), ERCC8(1161), APP(351), APOE(348), POLG(5428), NHLRC1(378884), COL18A1(80781), HTT(3064), PSAP(5660), PINK1(65018), PPT1(5538), PSEN1(5663), ATXN10(25814), NDP(4693), CYP27A1(1593), TREM2(54209), COL4A1(1282), HEXA(3073), EPM2A(7957), CFH(3075), FTL(2512), ITM2B(9445), CHMP2B(25978), ATN1(1822), PPP2R2B(5521), SPG21(51324), TBP(6908), TIMM8A(1678), ATP13A2(23400), MMACHC(25974), CST3(1471), PSEN2(5664), GM2A(2760), SNCA(6622), PANK2(80025), GRN(2896), CLN3(1201), SNCB(6620), GBA(2629), TYROBP(7305), APTX(54840), SERPINI1(5274), NOTCH3(4854)]
ABNORMALITY OF COMPLEMENT(HP:0005339)	[LMNB2(84823), CFP(5199), C8A(731), C8B(732), CFH(3075), CFI(3426), CFD(1675)]
ABNORMALITY OF CONNECTIVE TISSUE(HP:0003549)	[PLCE1(51196), FBN1(2200), PLOD1(5351), LYZ(4069), SCN9A(6335), CCBE1(147372), ERCC6(2074), NPHS1(4868), SH3BP2(6452), FLT4(2324), NEU1(4758), ANO5(203859), UBR1(197131), FECH(2235), GLA(2717), PPARG(5468), LAMB2(3913), NOD2(64127), DYSF(8291), MRPS22(56945), SOX18(54345), AIP(9049), CYBA(1535), LAMA2(3908), SLC29A3(55315), NR2E3(10002), ASAH1(427), MLC1(23209), NAGA(4668), MRPS16(51021), COL1A1(1277), TCAP(8557), PLEC(5339), PRSS1(5644), MKKS(8195), TRPS1(7227), INSR(3643), LMNA(4000), NPHS2(7827), ERCC8(1161), MVK(4598), COL8A2(1296), ZMPSTE24(10269), MED12(9968), PTPN11(5781), NCF2(4688), SOS1(6654), NCF1(653361), COL6A2(1292), TNFRSF1A(7132), TREM2(54209), APOA1(335), FGA(2243), ACVR1(90), TMPRSS15(5651), BSCL2(26580), FOXC2(2303), LMNB2(84823), NLRP3(114548), C3(718), WISP3(8838), CYBB(1536), SERPING1(710), PPP1R3A(5506), ATP6V0A2(23545), GBA(2629), AGPAT2(10555), TYROBP(7305)]
ABNORMALITY OF CORNEAL SIZE OR SHAPE(HP:0001120)	[CTDP1(9150), HSPG2(3339), FBN2(2201), FKRP(79147), PLOD1(5351), NHS(4810), TINF2(26277), LARGE(9215), TBX15(6913), ERCC6(2074), LMX1B(4010), GUCY2D(3000), COL3A1(1281), POMT1(10585), GNPTAB(79158), PITX2(5308), BEST1(7439), SLC2A10(81031), BCOR(54880), NIPBL(25836), VSX1(30813), FOXL2(668), FKTN(2218), GJA8(2703), GJA1(2697), RPE65(6121), RECQL4(9401), ZNF469(84627), RAB23(51715), KIAA1279(26128), RAB3GAP1(22930), POMT2(29954)]
ABNORMALITY OF CORTICAL BONE(HP:0003103)	[FBN1(2200), CLCN5(1184), CYP27B1(1594), SOST(50964), ADAMTS10(81794), SLC34A3(142680), SH3PXD2B(285590), VDR(7421), LRP5(4041), LIFR(3977), CYP2R1(120227), TGFB1(7040)]
ABNORMALITY OF CORTISOL PRODUCTION(HP:0002717)	[STAR(6770), CYP11A1(1583), RET(5979), GNAS(2778), LHX4(89884), PCSK1(5122), GLI3(2737), PROP1(5626), AIRE(326), AAAS(8086), PDE11A(50940), PRKAR1A(5573), NR0B1(190), GIP(2695), CYP21A2(1589), MEN1(4221), CYP17A1(1586), CYP11B1(1584)]
ABNORMALITY OF DECIDUOUS TEETH(HP:0006481)	[ADAMTS2(9509)]
ABNORMALITY OF DENTAL ENAMEL(HP:0000682)	[EP300(2033), KLK4(9622), CLDN1(9076), ATR(545), FGFR3(2261), OCRL(4952), VDR(7421), FGF23(8074), FLNB(2317), AIRE(326), FAM83H(286077), ITGB4(3691), FGF10(2255), COL7A1(1294), CYP27B1(1594), KL(9365), KCNJ2(3759), AMELX(265), GLB1(2720), LAMB3(3914), GNAS(2778), PHEX(5251), LAMC2(3918), PCNT(5116), GALNS(2588), PORCN(64840), GALNT3(2591), TSC1(7248), TSC2(7249), ALDH3A2(224), RUNX2(860), LAMA3(3909), ENAM(10117), OFD1(8481), DLX3(1747), GJA1(2697), MBTPS2(51360), CREBBP(1387), CNNM4(26504), PLEC(5339), ITGA6(3655)]
ABNORMALITY OF DENTAL MORPHOLOGY(HP:0006482)	[FBN1(2200), TRPS1(7227), NHS(4810), NHP2(55651), FGF23(8074), EDARADD(128178), EYA1(2138), EDA(1896), CDH3(1001), FGF3(2248), DSPP(1834), KL(9365), ADAMTS10(81794), AMELX(265), EDAR(10913), EVC(2121), NOP10(55505), SMARCAL1(50485), FOXC1(2296), TP63(8626), GALNT3(2591), DLX3(1747), GJA1(2697), NFKBIA(4792), CHST3(9469), RECQL4(9401), PVRL1(5818), MSX1(4487), ADAMTS2(9509)]
ABNORMALITY OF DENTIN(HP:0010299)	[DSPP(1834), ZNF469(84627), PPIB(5479), COL1A1(1277)]
ABNORMALITY OF DNA REPAIR(HP:0003254)	[DDB2(1643), ERCC2(2068), ERCC5(2073), FANCD2(2177), FANCA(2175), FANCC(2176), XPC(7508), ERCC6(2074), FANCE(2178), XPA(7507)]
ABNORMALITY OF EAR LOBES(HP:0000363)	[MAP2K1(5604), MAP2K2(5605), ESCO2(157570), BMP4(652), ZEB2(9839), FGD1(2245), SEC23A(10484), KRAS(3845), COL3A1(1281), BRAF(673), GLI3(2737)]
ABNORMALITY OF EOSINOPHILS(HP:0001879)	[IKBKG(8517), ADA(100), STAT3(6774), ELANE(1991), RAG2(5897), DOCK8(81704), DCLRE1C(64421), RAG1(5896), FAS(355), CASP10(843), CAPN3(825), PDGFRA(5156)]
ABNORMALITY OF ERYTHROCYTES(HP:0001877)	[PGK1(5230), ATRX(546), CPOX(1371), MMAA(166785), TINF2(26277), MMADHC(27249), SH2D1A(4068), ATR(545), FERMT3(83706), ANK1(286), SLC25A38(54977), SLC11A2(4891), TGFB1(7040), DNAJC19(131118), GLRX5(51218), RNF139(11236), FOXP3(50943), CP(1356), SLC7A7(9056), NPHP1(4867), GCLC(2729), STK11(6794), ABCB7(22), FANCD2(2177), FANCC(2176), SMAD4(4089), FANCE(2178), STIM1(6786), SC5DL(6309), FECH(2235), GLA(2717), LYST(1130), PSTPIP1(9051), UROS(7390), NT5C3(51251), RHAG(6005), SEC23B(10483), TMPRSS6(164656), PFKM(5213), MPL(4352), UMPS(7372), ATP7B(540), PUS1(80324), GIF(2694), NPHP4(261734), GP1BA(2811), FH(2271), APOB(338), HBA2(3040), NHP2(55651), HBB(3043), NBN(4683), HBG1(3047), AIRE(326), COL7A1(1294), HOXA11(3207), RAG2(5897), SBDS(51119), RAG1(5896), ACVRL1(94), HPRT1(3251), TBCE(6905), ADA(100), COX6B1(1340), G6PD(2539), JAK2(3717), CCND1(595), PANK2(80025), HBA1(3039), IVD(3712), FASTKD2(22868), TPI1(7167), CDAN1(146059), FAS(355), CASP10(843), OGG1(4968), CASR(846), SMPD1(6609), HAGH(3029), AMN(81693), TBXAS1(6916), SLC4A4(8671), CD40LG(959), SLC19A2(10560), DIRC2(84925), EPB42(2038), STOM(2040), GATA1(2623), HNF1A(6927), PRPS1(5631), ITK(3702), HMBS(3145), GALT(2592), ENG(2022), CUBN(8029), SLC46A1(113235), GPX1(2876), AASS(10157), FMO3(2328), TCIRG1(10312), SPTB(6710), TCN2(6948), SPTA1(6708), GPI(2821), ABCG8(64241), VPS13A(23230), PKLR(5313), ABCG5(64240), DKC1(1736), CD247(919), FTCD(10841), PNPO(55163), LCAT(3931), BPGM(669), ADAMTS13(11093), BMPR1A(657), ISCU(23479), PLEC(5339), TNFSF11(8600), WFS1(7466), EGLN1(54583), HK1(3098), AK1(203), FLCN(201163), MVK(4598), LMBRD1(55788), RMRP(6023), DHFR(1719), CA2(760), NME1(4830), ALAS2(212), GSS(2937), GSR(2936), CYB5R3(1727), CFH(3075), SLC4A1(6521), ALAD(210), PHGDH(26227), NOP10(55505), SMARCAL1(50485), MMAB(326625), TERC(7012), TERT(7015), DCLRE1C(64421), FANCA(2175), TF(7018), ALDOA(226), MMACHC(25974), VHL(7428), COX4I2(84701), PCCB(5096), WAS(7454), RPS14(6208), GBA(2629), MTRR(4552), ALPL(249), PNP(4860), RPS19(6223), MTR(4548), PCCA(5095)]
ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462)	[FBN1(2200), FKRP(79147), GUSB(2990), ATRX(546), CCBE1(147372), GLRB(2743), NSD1(64324), VDR(7421), GLRA1(2741), H19(283120), GLI3(2737), KCNQ1OT1(10984), FAH(2184), GNE(10020), GNPTAB(79158), GLB1(2720), UQCRB(7381), SALL1(6299), GPC3(2719), SLC2A10(81031), LRP2(4036), SLC5A5(6528), B3GALTL(145173), ROR2(4920), C10orf2(56652), FKTN(2218), CHRNG(1146), MPV17(4358), RAB23(51715), ADAMTS2(9509), ZEB2(9839), FGFR1(2260), LOX(4015), BCS1L(617), FGFR2(2263), CDKN1C(1028), COL5A2(1290), SLC26A2(1836), COL5A1(1289), CYP27B1(1594), SBDS(51119), GPC6(10082), FGD1(2245), COL2A1(1280), COL3A1(1281), CBS(875), FUCA1(2517), BSCL2(26580), PTRF(284119), SLC37A4(2542), TRIP11(9321), G6PC(2538), TBX1(6899), PORCN(64840), ARG1(383), NIPBL(25836), FAM123B(139285), CUL7(9820), SMPD1(6609), CHD7(55636), PAX8(7849), ARSB(411), LARGE(9215), EFEMP2(30008), TBX3(6926), FLNA(2316), IDS(3423), UQCRQ(27089), NEU1(4758), POMT1(10585), AGA(175), TSHB(7252), GALNS(2588), LBR(3930), SLC6A5(9152), RECQL4(9401), COL1A1(1277), POMT2(29954), HSPG2(3339), CD96(10225), INSR(3643), MED12(9968), GPHN(10243), DGUOK(1716), TRIM37(4591), DGCR(1714), FBLN5(10516), WNT3(7473), FREM2(341640), PITX2(5308), SMARCAL1(50485), FRAS1(80144), FTO(79068), HYLS1(219844), EFNB1(1947), SEMA3E(9723), GBA(2629), AGPAT2(10555)]
ABNORMALITY OF EYE MOVEMENT(HP:0000496)	[FBN1(2200), LRAT(9227), FKRP(79147), CHAT(1103), DCX(1641), SUCLA2(8803), TINF2(26277), ATRX(546), MMADHC(27249), TGFBR2(7048), ATXN8(724066), ATR(545), SACS(26278), TGFBR1(7046), GAN(8139), HSD17B4(3295), TGFBI(7045), DPM1(8813), SLC16A2(6567), GLI3(2737), NOG(9241), HRAS(3265), NPHP1(4867), NPC1(4864), COQ2(27235), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), OPN1LW(5956), COLQ(8292), CHRNA1(1134), ACADS(35), LYST(1130), ACADSB(36), GK(2710), B3GALTL(145173), ROR2(4920), SLC6A8(6535), DDR2(4921), ACOX1(51), SLC9A6(10479), C20orf7(79133), GJA1(2697), MPV17(4358), CHRNE(1145), CHRND(1144), ACTA1(58), CHRNB1(1140), NDUFS7(374291), NPHP4(261734), MKKS(8195), SNRPN(6638), FBXO7(25793), OCA2(4948), ZEB2(9839), GPR56(9289), RAPSN(5913), FGFR1(2260), BCS1L(617), FGFR2(2263), BBS12(166379), POLG(5428), FGF14(2259), COL18A1(80781), KCNC3(3748), SOS1(6654), GPR143(4935), ATXN10(25814), TUBB3(10381), FGD1(2245), DTNBP1(84062), C8orf38(137682), OPA1(4976), ABHD5(51099), FOXC2(2303), GNAS(2778), FOXC1(2296), BBS1(582), OPHN1(4983), BBS2(583), BBS4(585), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), NIPBL(25836), ATP13A2(23400), SIX6(4990), BBS10(79738), ZFPM2(23414), KDM5C(8242), DOK7(285489), CRB1(23418), PRNP(5621), PLA2G6(8398), RPGR(6103), TRIM32(22954), ITPR1(3708), ZIC4(84107), ARL6(84100), TCF4(6925), ROBO3(64221), ERCC6(2074), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), SLC19A3(80704), MAP2K2(5605), BUB1B(701), TMEM67(91147), BLOC1S3(388552), ZIC1(7545), ADSL(158), ALS2(57679), TREX1(11277), DNM2(1785), TCIRG1(10312), TCOF1(6949), SPG11(80208), BCOR(54880), DLAT(1737), DKC1(1736), CNGA3(1261), DLD(1738), FOXL2(668), MKS1(54903), C20orf54(113278), PRKCG(5582), RECQL4(9401), PDHX(8050), JAG1(182), HPS6(79803), GJB6(10804), WHCR(7467), WFS1(7466), PAX6(5080), INSR(3643), WHSC1(7468), ERCC8(1161), MVK(4598), CEP290(80184), MUSK(4593), ZMPSTE24(10269), MED12(9968), DGUOK(1716), GDF1(2657), TRIM37(4591), DHCR7(1717), DGCR(1714), CA8(767), SLC2A1(6513), AHI1(54806), BEAN(146227), CYB5R3(1727), PHGDH(26227), PPP2R2B(5521), COQ9(57017), GCH1(2643), FRMD7(90167), BEST1(7439), MFN2(9927), VLDLR(7436), SOST(50964), FANCA(2175), TSEN54(283989), TFAP2B(7021), TFAP2A(7020), OPN1MW(2652), ATP6V0A2(23545), GBA(2629), APTX(54840), CABC1(56997), BIN1(274), CLDN19(149461), BBS5(129880), MYH3(4621), SETX(23064), SALL4(57167), NSD1(64324), ANCR(282), HPS5(11234), CC2D2A(57545), MAPT(4137), GJC2(57165), POLG2(11232), EDNRB(1910), MYF6(4618), ATXN7(6314), IKBKG(8517), ESCO2(157570), ATXN8OS(6315), CDKL5(6792), GUCY2D(3000), COX15(1355), PTCH1(5727), KIF21A(55605), TYMP(1890), ATXN1(6310), ATXN2(6311), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), NUP62(23636), SURF1(6834), MCOLN1(57192), ABCC8(6833), C10orf2(56652), SCO2(9997), CACNA1A(773), SLC25A4(291), AP3B1(8546), SLC17A5(26503), CREBBP(1387), SIL1(64374), CNNM4(26504), ALDH5A1(7915), NAGA(4668), PTH1R(5745), CACNA1F(778), MAN2B1(4125), PDHA1(5160), LMNB1(4001), LMNA(4000), CNGB3(54714), ALG6(29929), INPP5E(56623), SDHA(6389), MECP2(4204), PDP1(54704), COL11A1(1301), HTT(3064), PDSS2(57107), NDN(4692), PHF6(84295), NDUFA1(4694), NDUFA2(4695), COL4A1(1282), PDSS1(23590), COL2A1(1280), UBE3A(7337), HCRT(3060), TTC8(123016), PEX26(55670), POMGNT1(55624), TBP(6908), HPS3(84343), TBX1(6899), ATCAY(85300), PORCN(64840), PEX3(8504), NDUFS1(4719), EBP(10682), NDUFS3(4722), DPYD(1806), NDUFV1(4723), PDE6C(5146), NDUFS2(4720), TYR(7299), CLDN16(10686), BBS7(55212), NDUFS6(4726), TTBK2(146057), NDUFS4(4724), ALMS1(7840), DPAGT1(1798), AGRN(375790), NDUFS8(4728), TYRP1(7306), PRSS12(8492), HSD17B10(3028), PEX19(5824), EP300(2033), TWIST1(7291), LARGE(9215), PEX5(5830), SPG7(6687), PHOX2A(401), PLP1(5354), NDUFAF2(91942), FLNA(2316), SPAST(6683), SOX10(6663), TTR(7276), ATXN3(4287), NPC2(10577), MITF(4286), PMM2(5373), NEU1(4758), NKX2-5(1482), AP4M1(9179), ASPA(443), NDUFAF3(25915), L2HGDH(79944), SPTBN2(6712), LBR(3930), ARX(170302), SPR(6697), CTDP1(9150), NHS(4810), RYR1(6261), ATP1A2(477), CD96(10225), ZBTB16(7704), ATM(472), HSPD1(3329), PTPN11(5781), L1CAM(3897), NME1(4830), FXN(2395), PITX2(5308), RNASET2(8635), ALG3(10195), KRAS(3845), EFNB1(1947), MMACHC(25974), PHYH(5264), HPS4(89781), RPS19(6223), SERPINI1(5274)]
ABNORMALITY OF FACIAL ADIPOSE TISSUE(HP:0000291)	[LMNB2(84823), LMNA(4000), ERCC8(1161), ERCC6(2074), ZMPSTE24(10269)]
ABNORMALITY OF FACIAL MUSCULATURE(HP:0000301)	[BIN1(274), FKRP(79147), SUCLA2(8803), DMPK(1760), LARGE(9215), TRIM32(22954), SALL4(57167), GJC2(57165), SGCB(6443), POLG2(11232), DCTN1(1639), MTM1(4534), MYF6(4618), ABCA1(19), TTN(7273), ALS2(57679), DNM2(1785), ANO5(203859), TCIRG1(10312), TK2(7084), ACADS(35), SEPN1(57190), MTMR2(8898), SPTBN2(6712), SLC25A4(291), CHRNE(1145), C20orf54(113278), PRKCG(5582), ACTA1(58), SLC12A6(9990), CHRNB1(1140), ATP1A3(478), TNFSF11(8600), RYR1(6261), RAPSN(5913), MECP2(4204), MUSK(4593), POLG(5428), EYA1(2138), COL6A1(1291), COL6A2(1292), TUBB3(10381), COL6A3(1293), NEB(4703), ANKH(56172), CLCN7(1186), PPP2R2B(5521), CLCF1(23529), SOST(50964), SEMA3E(9723), PABPN1(8106), DES(1674), KDM5C(8242), FAM123B(139285), DOK7(285489), TPM2(7169), AGRN(375790), TPM3(7170), CHD7(55636)]
ABNORMALITY OF FATTY-ACID METABOLISM(HP:0004359)	[ACADM(34), PEX19(5824), ACADL(33), PEX2(5828), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), ACADVL(37), PEX1(5189), PEX3(8504), ETFDH(2110), ETFB(2109), ETFA(2108), ABCD1(215), CPT2(1376), PEX26(55670)]
ABNORMALITY OF FEMALE EXTERNAL GENITALIA(HP:0000055)	[PEX19(5824), ABCD3(5825), SNRPN(6638), CD96(10225), PEX2(5828), INSR(3643), HCCS(3052), LMNA(4000), PEX5(5830), TBX15(6913), ATR(545), FGFR1(2260), ATIC(471), HBB(3043), FGFR2(2263), DHCR24(1718), ESCO2(157570), NDN(4692), FREM2(341640), UBR1(197131), PEX26(55670), CYP11B1(1584), BSCL2(26580), FRAS1(80144), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), TP63(8626), PORCN(64840), IRF6(3664), PEX3(8504), B3GALTL(145173), ROR2(4920), WT1(7490), NIPBL(25836), SEMA3E(9723), MKS1(54903), CHRNG(1146), POR(5447), AGPAT2(10555), CXCR4(7852), CHD7(55636)]
ABNORMALITY OF FEMALE INTERNAL GENITALIA(HP:0000008)	[RET(5979), BBS5(129880), PROK2(60675), SALL4(57167), NELF(26012), ESCO2(157570), PAPSS2(9060), STK11(6794), PTCH1(5727), MYH9(4627), UBR1(197131), BBS9(27241), UPK3A(7380), PPARG(5468), SALL1(6299), LRP2(4036), AIP(9049), PTEN(5728), B3GALTL(145173), DCAF17(80067), FSHB(2488), FSHR(2492), POR(5447), FST(10468), MKKS(8195), GP1BA(2811), SNRPN(6638), FH(2271), LMNA(4000), GP9(2815), HCCS(3052), GP1BB(2812), FGFR1(2260), NBN(4683), TAC3(6866), FGFR2(2263), BBS12(166379), POLG(5428), TACR3(6870), AIRE(326), NDN(4692), HOXA13(3209), COL3A1(1281), CYP19A1(1588), CYP17A1(1586), TTC8(123016), CYP11B1(1584), BSCL2(26580), FOXC2(2303), BBS1(582), BBS2(583), BBS4(585), PCSK1(5122), BBS10(79738), BBS7(55212), ALMS1(7840), DHH(50846), CXCR4(7852), AR(367), CHD7(55636), TRIM32(22954), RPS6KA3(6197), ARL6(84100), HNF1A(6927), STRA6(64220), ITGB3(3690), HNF1B(6928), PMM2(5373), ITGA2B(3674), BCOR(54880), IRF6(3664), WT1(7490), FOXL2(668), MKS1(54903), KISS1R(84634), WNT4(54361), RECQL4(9401), BMPR1B(658), SRY(6736), WHCR(7467), INSR(3643), WHSC1(7468), ATM(472), ERCC8(1161), CEP290(80184), PAX3(5077), PTPN11(5781), EIF2B2(8892), EIF2B5(8893), DHCR7(1717), EIF2B4(8890), EIF2B3(8891), WNT3(7473), EIF2B1(1967), FREM2(341640), WNT7A(7476), HFE(3077), FRAS1(80144), TP63(8626), HYLS1(219844), VWF(7450), SSTR5(6755), PPP1R3A(5506), AGPAT2(10555), F10(2159), MNX1(3110), F5(2153)]
ABNORMALITY OF FEMORAL EPIPHYSES(HP:0006499)	[SMARCAL1(50485), TRAPPC2(6399), HSPG2(3339), RET(5979), ADAMTSL2(9719), TBX4(9496), TRPS1(7227), PCNT(5116), WISP3(8838), PLOD3(8985), SLC39A13(91252), COL11A2(1302), COL11A1(1301), SLC26A2(1836), SBDS(51119), MATN3(4148), DYM(54808), GNPTG(84572), ACAN(176), COL2A1(1280), IHH(3549)]
ABNORMALITY OF GALACTOSIDE METABOLISM(HP:0004342)	[CTSA(5476), GLB1(2720)]
ABNORMALITY OF GANGLIOSIDE METABOLISM(HP:0004345)	[GM2A(2760), GNPTG(84572), HEXA(3073), GNPTAB(79158)]
ABNORMALITY OF GASTROINTESTINAL ORGANS(HP:0002012)	[FBN1(2200), FKRP(79147), FBP1(2203), CHAT(1103), SUCLA2(8803), TINF2(26277), VPS33B(26276), SPINK5(11005), PPOX(5498), CCBE1(147372), HSD17B4(3295), FERMT3(83706), H19(283120), REEP1(65055), DPM1(8813), SLC16A1(6566), DNAJC19(131118), SLC16A2(6567), FAH(2184), KCNQ1OT1(10984), SLC22A5(6584), ABCA1(19), HRAS(3265), GNMT(27232), SNAI2(6591), CTSA(5476), MATR3(9782), UBR1(197131), BBS9(27241), GNPTAB(79158), ACADM(34), CHRNA1(1134), FECH(2235), ACADS(35), PPARG(5468), ACADL(33), LYST(1130), ACAT1(38), ACADVL(37), NEUROG3(50674), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), SLC29A3(55315), ACOX1(51), FKTN(2218), MPL(4352), MPZ(4359), C20orf7(79133), MPV17(4358), POU1F1(5449), ACP2(53), CHRNE(1145), SLC12A1(6557), CHRND(1144), ACTA1(58), CHRNB1(1140), ACTB(60), SNRPN(6638), ZEB2(9839), FGFR1(2260), FGFR2(2263), BBS12(166379), CDKN1C(1028), POLG(5428), CDKN2A(1029), CECR(1055), SOD1(6647), ACVRL1(94), FGA(2243), PTRF(284119), HPRT1(3251), MSH2(4436), ADA(100), PNLIP(5406), SFTPA2(729238), NDUFA11(126328), HPS1(3257), WNK1(65125), CFTR(1080), HOXD13(3239), FASTKD2(22868), HSD3B7(80270), HPD(3242), SMPD1(6609), PRNP(5621), ERBB2(2064), ERCC2(2068), TRIM32(22954), ERCC3(2071), PHOX2B(8929), STRA6(64220), ERCC6(2074), HMGCL(3155), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), TMEM67(91147), BLOC1S3(388552), HMBS(3145), MAPK10(5602), ZIC3(7547), ABCC2(1244), HLCS(3141), PRKCSH(5589), AGA(175), ABCG8(64241), SPG11(80208), ABCG5(64240), AFP(174), ETFDH(2110), ETFB(2109), ETFA(2108), PRKCG(5582), AGL(178), COL1A1(1277), KIAA1279(26128), JAG1(182), CNTN1(1272), WHCR(7467), WFS1(7466), HK1(3098), WHSC1(7468), SIX3(6496), ERCC8(1161), ST3GAL5(8869), CEP290(80184), MVK(4598), MUSK(4593), MUTYH(4595), EYA1(2138), MUT(4594), MED12(9968), TRIM37(4591), NCF1(653361), SLC17A3(10786), SLC2A2(6514), SLC5A2(6524), WNT3(7473), HEXB(3074), CFH(3075), CLCN1(1180), SLC4A1(6521), HFE(3077), ALAD(210), SLC5A1(6523), NOP10(55505), FRAS1(80144), ALDOB(229), SI(6476), TSEN54(283989), ALDOA(226), VHL(7428), COX4I2(84701), PPP1R3A(5506), VWF(7450), WAS(7454), ALPL(249), F9(2158), MCEE(84693), VRK1(7443), MTR(4548), MNX1(3110), MTTP(4547), BIN1(274), CPT1A(1374), CPS1(1373), CPOX(1371), CLDN1(9076), NAGS(162417), NSD1(64324), ANCR(282), HPS5(11234), MAPT(4137), ANK1(286), ATXN7(6314), ESCO2(157570), ATXN8OS(6315), SLC7A7(9056), ABCB4(5244), GNE(10020), ATXN1(6310), ATXN2(6311), SC5DL(6309), UQCRB(7381), SALL1(6299), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), UROD(7389), UROS(7390), IL2RG(3561), NUP62(23636), C10orf2(56652), SCO2(9997), PFKM(5213), FSHR(2492), SLC17A5(26503), SEC63(11231), CREBBP(1387), ATP8B1(5205), CPT2(1376), MAN2B1(4125), TREH(11181), APOB(338), NHP2(55651), INPP5E(56623), APOE(348), MECP2(4204), TSFM(10102), PDP1(54704), AMACR(23600), PDGFRL(5157), APOC2(344), PDGFRA(5156), AIRE(326), COL5A2(1290), COL6A1(1291), COL4A6(1288), APC(324), COL5A1(1289), COL7A1(1294), MEFV(4210), COL6A2(1292), COL6A3(1293), APOA1(335), FUCA1(2517), MEN1(4221), UBE3A(7337), FTL(2512), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), SLC37A4(2542), VPS13B(157680), SLC39A4(55630), ABCC6(368), COX6B1(1340), G6PD(2539), G6PC(2538), ARG1(383), MCM6(4175), PCSK1(5122), AQP2(359), PANK2(80025), IGHMBP2(3508), CDAN1(146059), FAS(355), GAA(2548), SCNN1G(6340), IGKC(3514), AR(367), ATPAF2(91647), KLF6(1316), UGT1A1(54658), SCNN1A(6337), CHD7(55636), SCNN1B(6338), SLC25A15(10166), ARSA(410), ARSB(411), PLOD1(5351), SLC25A13(10165), LARGE(9215), RPS6KA3(6197), CTNNB1(1499), FLNA(2316), CIITA(4261), CTNS(1497), IDS(3423), MID1(4281), TTR(7276), ATXN3(4287), PMM2(5373), FMO3(2328), TRMU(55687), MET(4233), LRPPRC(10128), ASS1(445), PKLR(5313), PKHD1(5314), TSPYL1(7259), ASL(435), SP110(3431), CYBA(1535), ASAH1(427), ARX(170302), ASCL1(429), ADAMTS13(11093), MBTPS2(51360), PLG(5340), ATP1A3(478), RYR1(6261), CD96(10225), PIK3CA(5290), HSPD1(3329), LMBRD1(55788), MPI(4351), TRH(7200), PKD2(5311), MOCS2(4338), PKD1(5310), MOCS1(4337), PITX2(5308), ALG3(10195), MMAB(326625), DCLRE1C(64421), MLH1(4292), PHKA2(5256), PHKB(5257), HYLS1(219844), PHKG2(5261), CSF3R(1441), SERPINA1(5265), ANTXR2(118429), HPS4(89781), TPM2(7169), RPS19(6223), TPM3(7170), G6PC3(92579), RET(5979), ATRX(546), MMAA(166785), ATXN8(724066), DDC(1644), AVPR2(554), SLC11A2(4891), TGFB1(7040), MCCC1(56922), GLI3(2737), DCR(1637), NPHS1(4868), KIT(3815), REG1A(5967), THPO(7066), NPC1(4864), CRLF1(9244), RPGRIP1L(23322), GLB1(2720), COLQ(8292), GLA(2717), GPC3(2719), MRPS22(56945), GK(2710), RHAG(6005), GJB1(2705), SEC23B(10483), TMPRSS6(164656), RFX5(5993), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), RFXAP(5994), DBT(1629), VANGL1(81839), ATP7B(540), GIF(2694), AXIN1(8312), ATP7A(538), SAR1B(51128), GP1BA(2811), MKKS(8195), KCNJ11(3767), RAPSN(5913), OCRL(4952), BCS1L(617), BDNF(627), AAAS(8086), ATXN10(25814), GNS(2799), SBDS(51119), RAG2(5897), TNFRSF1A(7132), RAG1(5896), KCNJ1(3758), CYP11B2(1585), DTNBP1(84062), ABHD5(51099), BBS1(582), BBS2(583), BBS4(585), NDUFAF4(29078), CYBB(1536), NIPBL(25836), PABPN1(8106), JAK2(3717), BCKDHA(593), BBS10(79738), CCND1(595), TMEM70(54968), BCKDHB(594), FAM123B(139285), IVD(3712), TPI1(7167), TP53(7157), MLYCD(23417), AMN(81693), BTD(686), PLA2G6(8398), DMPK(1760), TBXAS1(6916), OXCT1(5019), ARL6(84100), GATA1(2623), TBX3(6926), TCF4(6925), ITK(3702), BRAF(673), OTC(5009), SLC19A3(80704), ITGB3(3690), ITGB4(3691), ITGB2(3689), BUB1B(701), HNF1B(6928), GALT(2592), ALS2(57679), CUBN(8029), TREX1(11277), SLC46A1(113235), BTK(695), TCIRG1(10312), DNMT3B(1789), GALC(2581), TCN2(6948), GALE(2582), ITGA2B(3674), GALNS(2588), DKC1(1736), DLD(1738), PSAT1(29968), GALK1(2584), BPGM(669), MKS1(54903), IRF1(3659), C20orf54(113278), RECQL4(9401), MRPS16(51021), PDX1(3651), ETHE1(23474), BMPR1A(657), HPS6(79803), ITGA6(3655), POMT2(29954), ZFYVE26(23503), INSR(3643), ACAD9(28976), TNFRSF13B(23495), PAX4(5078), PAX3(5077), INS(3630), GPHN(10243), RMRP(6023), DGUOK(1716), CA2(760), DHCR7(1717), DGCR(1714), EPM2A(7957), GDNF(2668), GCH1(2643), HGSNAT(138050), TEK(7010), ALG1(56052), GCK(2645), CLCF1(23529), TERC(7012), TERT(7015), PCK1(5105), PCK2(5106), TIMM8A(1678), TF(7018), TFAP2A(7020), EIF2AK3(9451), SERPING1(710), DES(1674), PCCB(5096), ATP6V0A2(23545), GBA(2629), GBE1(2632), PC(5091), GCDH(2639), PCCA(5095), C5(727), MYCN(4613), GUSB(2990), LYZ(4069), SH2D1A(4068), BBS5(129880), SETX(23064), SALL4(57167), EPCAM(4072), EDNRA(1909), EDN3(1908), EDNRB(1910), FOXP3(50943), MANF(7873), IKBKAP(8518), CDKL5(6792), GUCY2D(3000), STK11(6794), MYH8(4626), MYH9(4627), SMAD4(4089), TYMP(1890), MYO5B(4645), SLC25A20(788), LRP2(4036), PRKRA(8575), PTEN(5728), UPB1(51733), ABCC8(6833), CACNA1A(773), AP3B1(8546), RAB23(51715), NAGLU(4669), ICOS(29851), PRSS1(5644), HCCS(3052), LMNA(4000), KRIT1(889), ALG6(29929), HBB(3043), NBN(4683), NHLRC1(378884), PSAP(5660), NCF2(4688), LPL(4023), PSEN1(5663), NDN(4692), SPINT2(10653), NDUFA1(4694), CBS(875), NEB(4703), TMPRSS15(5651), TBP(6908), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), SLC26A3(1811), NDUFS1(4719), LIFR(3977), DPYS(1807), NDUFV1(4723), LIPA(3988), NDUFS2(4720), HADHB(3032), HADH(3033), CLDN16(10686), BBS7(55212), NDUFS6(4726), HBA1(3039), NDUFS4(4724), ALMS1(7840), MOGS(7841), CASP10(843), CASP8(841), CASR(846), HADHA(3030), PAX8(7849), PEX19(5824), PIGM(93183), ABCD3(5825), EP300(2033), CD40LG(959), PEX2(5828), SLC19A2(10560), PEX5(5830), PYCR1(5831), SCARB2(950), LCT(3938), SPG7(6687), PYGL(5836), NDUFAF2(91942), SOX10(6663), SOX2(6657), NPC2(10577), ENG(2022), UQCRQ(27089), ABCB11(8647), NEU1(4758), POMT1(10585), LAMB3(3914), SPTB(6710), SPTA1(6708), GPI(2821), LAMC2(3918), NDUFAF3(25915), VPS13A(23230), QDPR(5860), AKR1D1(6718), CD247(919), D2HGDH(728294), LAMA2(3908), LAMA3(3909), PNPO(55163), LBR(3930), GFM1(85476), SPINK1(6690), NFKBIA(4792), TNFSF11(8600), DNAI1(27019), CDC73(79577), L1CAM(3897), NME1(4830), NPHP3(27031), FREM2(341640), CDH1(999), ADAMTSL2(9719), KRAS(3845), PTS(5805), RFXANK(8625), NODAL(4838), SEMA3E(9723), MMACHC(25974), AICDA(57379), PNP(4860), AGPAT2(10555), PNKD(25953)]
ABNORMALITY OF GASTROINTESTINAL VASCULATURE(HP:0004296)	[VWF(7450), ENG(2022), ACVRL1(94)]
ABNORMALITY OF GLOBE LOCATION OR SIZE(HP:0000489)	[FBN1(2200), FKRP(79147), RET(5979), AVP(551), TGIF1(7050), ATRX(546), TGFBR2(7048), ATR(545), TGFBR1(7046), CCBE1(147372), HSD17B4(3295), DPM1(8813), TGFB1(7040), GLI3(2737), THRB(7068), HRAS(3265), ADAMTS10(81794), FANCD2(2177), RPGRIP1L(23322), FANCC(2176), FANCE(2178), GLB1(2720), CHRNA1(1134), GPC3(2719), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), DDR2(4921), SLC29A3(55315), ACOX1(51), FKTN(2218), GJA1(2697), CHRNG(1146), POU1F1(5449), CHRND(1144), POR(5447), PROKR2(128674), FH(2271), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), FGF10(2255), SOS1(6654), CECR(1055), FGD1(2245), KCNJ2(3759), KCNJ1(3758), ACY1(95), FOXC2(2303), FOXE3(2301), FOXC1(2296), OPHN1(4983), NIPBL(25836), SIX6(4990), SNAP29(9342), KDM5C(8242), FAM123B(139285), DOK7(285489), SPRED1(161742), SMS(6611), ABCA12(26154), TBX15(6913), ERCC3(2071), PRPS1(5631), TCF4(6925), ERCC6(2074), STRA6(64220), BRAF(673), MAP2K1(5604), MAP2K2(5605), BUB1B(701), SH3BP2(6452), DNMT3B(1789), MFRP(83552), TCOF1(6949), BMP4(652), BCOR(54880), FOXL2(668), MKS1(54903), AGL(178), RPE65(6121), RECQL4(9401), PDHX(8050), JAG1(182), RAB3GAP1(22930), CNTN1(1272), POMT2(29954), WHCR(7467), EHMT1(79813), INSR(3643), SEPT9(10801), SIX3(6496), WHSC1(7468), ZMPSTE24(10269), PAX3(5077), PAX2(5076), MED12(9968), RMRP(6023), DHCR7(1717), TRIM37(4591), DGCR(1714), RAX(30062), FAM20C(56975), WNT3(7473), SH3PXD2B(285590), EVC(2121), FRAS1(80144), SHH(6469), ALG1(56052), BEST1(7439), SOST(50964), FANCA(2175), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), GBA(2629), ALPL(249), LEPRE1(64175), SALL4(57167), MYH3(4621), ANCR(282), NSD1(64324), ESCO2(157570), IKBKG(8517), ALX3(257), GUCY2D(3000), CDKL5(6792), PTCH1(5727), GNE(10020), UPK3A(7380), TMEM216(51259), SLC2A10(81031), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), LRP5(4041), PEPD(5184), CREBBP(1387), SLC12A6(9990), PTH1R(5745), HCCS(3052), MECP2(4204), COL11A2(1302), COL11A1(1301), PRPS2(5634), PHF6(84295), NDP(4693), SPINT2(10653), UBE3A(7337), FUCA1(2517), PEX26(55670), PQBP1(10084), TBCE(6905), IL1RAPL1(11141), TBX1(6899), PORCN(64840), PEX3(8504), PLOD3(8985), RUNX2(860), EBP(10682), DPYD(1806), OFD1(8481), CHD7(55636), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), LARGE(9215), TWIST1(7291), PEX5(5830), RPS6KA3(6197), PYCR1(5831), FLNA(2316), FLNB(2317), MID1(4281), SOX9(6662), ATXN3(4287), SOX2(6657), MITF(4286), NF1(4763), POMT1(10585), LBR(3930), ARX(170302), PLEC(5339), NHS(4810), CD96(10225), PTPN11(5781), FREM2(341640), STAT3(6774), KRAS(3845), HYLS1(219844), EFNB1(1947), SEMA3E(9723), MMP2(4313), RPS19(6223)]
ABNORMALITY OF GLYCOLYSIS(HP:0004366)	[GPI(2821), G6PD(2539), GSS(2937), PDHX(8050), LDHA(3939), PC(5091), HAGH(3029)]
ABNORMALITY OF GLYCOPROTEIN METABOLISM(HP:0004367)	[CDAN1(146059), SEC23B(10483)]
ABNORMALITY OF GLYCOSAMINOGLYCAN METABOLISM(HP:0004371)	[GNPTAB(79158)]
ABNORMALITY OF GLYCOSIDE METABOLISM(HP:0003649)	[CTSA(5476), GLB1(2720)]
ABNORMALITY OF GLYCOSPHINGOLIPID METABOLISM(HP:0004343)	[GM2A(2760), GBA(2629), GNPTG(84572), HEXA(3073), HEXB(3074), GNPTAB(79158)]
ABNORMALITY OF GRANULOCYTES(HP:0001911)	[CD40(958), CD40LG(959), MMAA(166785), HAX1(10456), CAPN3(825), CIITA(4261), IKBKG(8517), FANCD2(2177), SLC46A1(113235), FANCC(2176), FANCE(2178), FMO3(2328), TCN2(6948), AGA(175), FTCD(10841), RFX5(5993), LBR(3930), RFXAP(5994), ELANE(1991), AP3B1(8546), DOCK8(81704), AK2(204), LMBRD1(55788), PDGFRA(5156), RMRP(6023), CEBPE(1053), SBDS(51119), RAG2(5897), RAG1(5896), GSS(2937), SMARCAL1(50485), ADA(100), MMAB(326625), SLC37A4(2542), STAT3(6774), DCLRE1C(64421), FANCA(2175), RFXANK(8625), MMACHC(25974), TAZ(6901), PCCB(5096), WAS(7454), FAS(355), PNP(4860), CASP10(843), RPS19(6223), CXCR4(7852), SLC35A1(10559), G6PC3(92579), PCCA(5095)]
ABNORMALITY OF HABITUS(HP:0010718)	[FBN1(2200), RET(5979), PLOD1(5351), FBN2(2201), HPGD(3248), TGFBR2(7048), KAL1(3730), TGFBR1(7046), TGFB1(7040), MED12(9968), COL6A1(1291), COL6A2(1292), COL6A3(1293), ACTA1(58), COL2A1(1280), ZNF469(84627), CBS(875), NEB(4703)]
ABNORMALITY OF HAIR PIGMENTATION(HP:0009887)	[TINF2(26277), OCA2(4948), LPAR6(10161), ANCR(282), MECP2(4204), EDN3(1908), PAX3(5077), EDNRB(1910), CTNS(1497), ESCO2(157570), RMRP(6023), SOX10(6663), CDKL5(6792), MITF(4286), SNAI2(6591), UROC1(131669), UBE3A(7337), MLPH(79083), PAH(5053), MYO5A(4644), LYST(1130), TERC(7012), TERT(7015), TP63(8626), DKC1(1736), TFAP2A(7020), RAB27A(5873), PRKAR1A(5573), AP3B1(8546), SLC17A5(26503), RECQL4(9401), TYRP1(7306), ZNF469(84627)]
ABNORMALITY OF HAIR TEXTURE(HP:0010719)	[ERCC2(2068), ERCC3(2071), RPS6KA3(6197), LPAR6(10161), GAN(8139), NSD1(64324), BRAF(673), EDARADD(128178), FLNA(2316), SGSH(6448), EDA(1896), MAP2K1(5604), IKBKG(8517), MAP2K2(5605), SLC7A7(9056), C7orf11(136647), HRAS(3265), SEC23A(10484), ASL(435), DCAF17(80067), GTF2H5(404672), GJA1(2697), NAGLU(4669), SUOX(6821), WNT10A(80326), MSX1(4487), ATP7A(538), TRPS1(7227), GJB6(10804), KRT81(3887), BCS1L(617), ZMPSTE24(10269), MED12(9968), CDH3(1001), RMRP(6023), GNS(2799), DSP(1832), KRT86(3892), CBS(875), KRT83(3889), EDAR(10913), KRT85(3891), HR(55806), SMARCAL1(50485), ST14(6768), HGSNAT(138050), JUP(3728), TP63(8626), PORCN(64840), KRAS(3845), PLOD3(8985), ATP6V0A2(23545), PVRL1(5818)]
ABNORMALITY OF HAND JOINT MOBILITY(HP:0006256)	[COL6A1(1291), COL6A2(1292), COL6A3(1293), FGD1(2245)]
ABNORMALITY OF HISTIOCYTES(HP:0004310)	[NPC2(10577), NPC1(4864), SMPD1(6609), GLB1(2720)]
ABNORMALITY OF KERATINIZATION(HP:0001035)	[ABCA12(26154), ARSE(415), VPS33B(26276), ERCC2(2068), TGM1(7051), SPINK5(11005), ERCC3(2071), STS(412), SLURP1(57152), CLDN1(9076), FLG(2312), BRAF(673), MAP2K1(5604), FERMT1(55612), MAP2K2(5605), IKBKG(8517), ITGB4(3691), FLT4(2324), DOLK(22845), NSDHL(50814), LAMB3(3914), LAMC2(3918), SAT1(6303), PEX7(5191), PTEN(5728), SART3(9733), GJB2(2706), LAMA3(3909), GJB3(2707), GTF2H5(404672), GJA1(2697), KITLG(4254), MBTPS2(51360), NAGA(4668), WNT10A(80326), POMP(51371), PLEC(5339), ADAMTS2(9509), GJB6(10804), KRT81(3887), INSR(3643), COL17A1(1308), LOR(4014), KRT17(3872), ZMPSTE24(10269), COL6A1(1291), AAAS(8086), DSP(1832), COL6A2(1292), COL6A3(1293), DSG1(1828), KRT86(3892), KRT83(3889), COL4A5(1287), KRT6B(3854), ST14(6768), KRT5(3852), HPGD(3248), KRT6A(3853), JUP(3728), KRT1(3848), KRT2(3849), TP63(8626), KRAS(3845), SUMF1(285362), ALDH3A2(224), EBP(10682), PHYH(5264), KRT16(3868), SNAP29(9342), ATP2A2(488), GBA(2629), GJB4(127534), CTSC(1075), KRT14(3861), PVRL1(5818), KRT10(3858), KRT9(3857)]
ABNORMALITY OF KREBS CYCLE METABOLISM(HP:0000816)	[MMAB(326625), FH(2271), MMADHC(27249), MMAA(166785), MMACHC(25974)]
ABNORMALITY OF LEUCINE METABOLISM(HP:0004357)	[ETFDH(2110), ETFB(2109), ETFA(2108)]
ABNORMALITY OF LEUKOCYTES(HP:0001881)	[LYL1(4066), MMAA(166785), TINF2(26277), SH2D1A(4068), SPINK5(11005), HAX1(10456), ATR(545), SETX(23064), SALL4(57167), NSD1(64324), CAPN3(825), FERMT3(83706), DCR(1637), B2M(567), IKBKG(8517), SLC7A7(9056), NPM1(4869), KIT(3815), THPO(7066), MYH9(4627), FANCD2(2177), ABL1(25), FANCC(2176), FANCE(2178), GLB1(2720), MSH6(2956), LYST(1130), PICALM(8301), PSTPIP1(9051), IL2RG(3561), RFX5(5993), GTF2H5(404672), MPL(4352), RFXAP(5994), AP3B1(8546), SLC17A5(26503), CREBBP(1387), UMPS(7372), UNG(7374), ICOS(29851), MAN2B1(4125), ARHGEF12(23365), RARA(5914), LMNA(4000), BCR(613), NHP2(55651), NBN(4683), PDGFRB(5159), CDKN2A(1029), HBG1(3047), PDGFRA(5156), CEBPA(1050), MEFV(4210), CEBPE(1053), HOXA11(3207), SBDS(51119), RAG2(5897), POLA1(5422), RAG1(5896), FUCA1(2517), LPP(4026), FES(2242), CES1(1066), PTRF(284119), CNBP(7555), MSH2(4436), ADA(100), SLC37A4(2542), VPS13B(157680), SLC39A4(55630), SFTPA2(729238), TBX1(6899), PMS2(5395), PSG1(5669), TAZ(6901), RUNX1(861), MCL1(4170), JAK2(3717), LIPA(3988), IVD(3712), BCL2(596), TCL1A(8115), FAS(355), RB1(5925), CASP10(843), CXCR4(7852), BCL3(602), CASP8(841), TAL1(6886), TP53(7157), EP300(2033), CD40(958), TBXAS1(6916), CD40LG(959), ERCC2(2068), ERCC3(2071), GATA1(2623), ITK(3702), CIITA(4261), FLT3(2322), ITGB2(3689), BUB1B(701), MLLT10(8028), SH3GL1(6455), SLC46A1(113235), BTK(695), PMM2(5373), NEU1(4758), FMO3(2328), TCIRG1(10312), CD19(930), DNMT3B(1789), NUP214(8021), TCN2(6948), CD8A(925), AGA(175), TLX1(3195), DKC1(1736), CD3E(916), FTCD(10841), SP110(3431), BLM(641), TRA@(6955), LBR(3930), RAB27A(5873), AMLCR2(9163), ELANE(1991), DOCK8(81704), WHSC1L1(54904), TNFSF11(8600), AK2(204), MYBPC3(4607), PBX1(5087), ATM(472), MYB(4602), TNFRSF13B(23495), MVK(4598), LMBRD1(55788), MUT(4594), RMRP(6023), DGCR(1714), GSS(2937), MOS(4342), ETV6(2120), NOP10(55505), SMARCAL1(50485), MMAB(326625), STAT3(6774), MLL(4297), TERC(7012), KRT1(3848), TERT(7015), DCLRE1C(64421), NLRP3(114548), MLH1(4292), ROBLD3(28956), FANCA(2175), RFXANK(8625), MMACHC(25974), SUMF1(285362), GMPS(8833), AICDA(57379), MLF1(4291), PCCB(5096), KRT16(3868), CLN3(1201), KLHDC8B(200942), WAS(7454), GBA(2629), PNP(4860), RPS19(6223), SLC35A1(10559), G6PC3(92579), KRT9(3857), PCCA(5095)]
ABNORMALITY OF LIPID METABOLISM(HP:0003119)	[PEX19(5824), CPT1A(1374), RET(5979), PEX2(5828), MMAA(166785), MMADHC(27249), LDLR(3949), PEX5(5830), PYGL(5836), ABCA1(19), NPC2(10577), NPC1(4864), NSDHL(50814), PMM2(5373), UBR1(197131), GNPTAB(79158), SC5DL(6309), ACADM(34), FECH(2235), PPARG(5468), ACADL(33), ABCG8(64241), ABCG5(64240), PEX10(5192), KIF1B(23095), PEX14(5195), ACADVL(37), PEX13(5194), PEX1(5189), DCAF17(80067), ETFDH(2110), ETFB(2109), ETFA(2108), LCAT(3931), LBR(3930), AGL(178), CPT2(1376), JAG1(182), SAR1B(51128), APOB(338), LMNA(4000), NPHS2(7827), APOA5(116519), APOA2(336), SDHD(6392), ERCC8(1161), SDHB(6390), OCRL(4952), APOE(348), ZMPSTE24(10269), APOC2(344), DHCR24(1718), DHCR7(1717), LPL(4023), SLC17A3(10786), ALAS2(212), HEXA(3073), HEXB(3074), ABCD1(215), CFH(3075), SLC4A1(6521), PEX26(55670), PTRF(284119), BSCL2(26580), SLC37A4(2542), MMAB(326625), G6PC(2538), PHKA2(5256), PEX3(8504), PHKG2(5261), MMACHC(25974), VHL(7428), EBP(10682), PPP1R3A(5506), GM2A(2760), LIPA(3988), PANK2(80025), GBA(2629), ALMS1(7840), GNPTG(84572), AGPAT2(10555), APTX(54840), MTTP(4547), SMPD1(6609)]
ABNORMALITY OF LOWER LIP(HP:0000178)	[FKRP(79147), HGSNAT(138050), POMGNT1(55624), EHMT1(79813), ATRX(546), RPS6KA3(6197), IRF6(3664), TFAP2A(7020), MED12(9968), CUL4B(8450), GJA1(2697), FGD1(2245), SMS(6611)]
ABNORMALITY OF LOWER-LIMB METAPHYSES(HP:0006490)	[FGFR3(2261)]
ABNORMALITY OF LYMPHOCYTES(HP:0004332)	[CD40(958), CD40LG(959), MMAA(166785), TINF2(26277), SH2D1A(4068), SPINK5(11005), ERCC2(2068), ERCC3(2071), ATR(545), SETX(23064), ITK(3702), CIITA(4261), B2M(567), FANCD2(2177), BTK(695), FANCC(2176), PMM2(5373), NEU1(4758), FANCE(2178), TCIRG1(10312), GLB1(2720), CD19(930), DNMT3B(1789), TCN2(6948), CD8A(925), AGA(175), DKC1(1736), PSTPIP1(9051), CD3E(916), SP110(3431), BLM(641), IL2RG(3561), RFX5(5993), GTF2H5(404672), RAB27A(5873), MPL(4352), RFXAP(5994), ELANE(1991), SLC17A5(26503), UMPS(7372), UNG(7374), ICOS(29851), MAN2B1(4125), TNFSF11(8600), AK2(204), MYBPC3(4607), LMNA(4000), ATM(472), TNFRSF13B(23495), NHP2(55651), NBN(4683), MVK(4598), LMBRD1(55788), HBG1(3047), RMRP(6023), DGCR(1714), HOXA11(3207), SBDS(51119), RAG2(5897), RAG1(5896), FUCA1(2517), PTRF(284119), NOP10(55505), SMARCAL1(50485), CNBP(7555), ADA(100), MMAB(326625), SLC39A4(55630), TERC(7012), SFTPA2(729238), KRT1(3848), TERT(7015), DCLRE1C(64421), ROBLD3(28956), FANCA(2175), TBX1(6899), PSG1(5669), RFXANK(8625), AICDA(57379), PCCB(5096), LIPA(3988), KRT16(3868), KLHDC8B(200942), CLN3(1201), WAS(7454), GBA(2629), IVD(3712), PNP(4860), FAS(355), CASP10(843), CXCR4(7852), CASP8(841), KRT9(3857), PCCA(5095)]
ABNORMALITY OF LYSOSOMAL METABOLISM(HP:0004356)	[CLCN7(1186), CA2(760), TNFRSF11B(4982), OCRL(4952), GNPTAB(79158)]
ABNORMALITY OF MACROPHAGES(HP:0004311)	[NCF2(4688), LIPA(3988), NPC2(10577), NCF1(653361), NPC1(4864), NEU1(4758), CYBA(1535), CYBB(1536), SMPD1(6609), GLB1(2720)]
ABNORMALITY OF MALE EXTERNAL GENITALIA(HP:0000032)	[FBN1(2200), DCX(1641), ATRX(546), BBS5(129880), PROK2(60675), ATR(545), MYH3(4621), NELF(26012), CCBE1(147372), HSD17B3(3293), NSD1(64324), H19(283120), DNAJC19(131118), GLI3(2737), FERMT1(55612), ESCO2(157570), KCNQ1OT1(10984), KIT(3815), STK11(6794), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), AMH(268), AMHR2(269), SC5DL(6309), SALL1(6299), GPC3(2719), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), SEC23A(10484), PTEN(5728), B3GALTL(145173), UPB1(51733), DCAF17(80067), ROR2(4920), SLC29A3(55315), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CREBBP(1387), POR(5447), RAB23(51715), CYP11A1(1583), MKKS(8195), SNRPN(6638), HCCS(3052), RAPSN(5913), ZEB2(9839), FGFR1(2260), EVC2(132884), FGFR3(2261), OCRL(4952), INPP5E(56623), HBB(3043), TAC3(6866), MECP2(4204), FGFR2(2263), CDKN1C(1028), BBS12(166379), TACR3(6870), CUL4B(8450), FGF10(2255), SOS1(6654), NDN(4692), PHF6(84295), DSP(1832), POLA1(5422), HOXA13(3209), GPC6(10082), FGD1(2245), CYP21A2(1589), CYP17A1(1586), PQBP1(10084), PEX26(55670), TTC8(123016), CYP11B1(1584), FOXC2(2303), LHCGR(3973), TBCE(6905), LHB(3972), UBA1(7317), SLC39A4(55630), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), ICK(22858), BBS4(585), PORCN(64840), PEX3(8504), NIPBL(25836), BBS10(79738), TMEM70(54968), KDM5C(8242), OFD1(8481), HOXD13(3239), BBS7(55212), DOK7(285489), CUL7(9820), AR(367), SMS(6611), ATPAF2(91647), CHD7(55636), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), PEX5(5830), STS(412), TBX15(6913), TRIM32(22954), ARL6(84100), TBX3(6926), BRWD3(254065), STRA6(64220), ERCC6(2074), FLNA(2316), MTM1(4534), FLNB(2317), SOX10(6663), MID1(4281), BUB1B(701), SOX2(6657), HNF1B(6928), TCOF1(6949), BMP4(652), TSPYL1(7259), DKC1(1736), IRF6(3664), SRD5A2(6716), BLM(641), WT1(7490), MKS1(54903), KISS1R(84634), NR0B1(190), ARX(170302), RECQL4(9401), RAB3GAP1(22930), PLEC(5339), HSPG2(3339), WHCR(7467), CD96(10225), ZBTB16(7704), INSR(3643), WHSC1(7468), INSL3(3640), ERCC8(1161), CEP290(80184), ZMPSTE24(10269), DHCR24(1718), PTPN11(5781), MED12(9968), DHCR7(1717), RXFP2(122042), WNT3(7473), FREM2(341640), WNT7A(7476), EVC(2121), PHGDH(26227), PITX2(5308), STAR(6770), FRAS1(80144), PCNT(5116), F13A1(2162), TP63(8626), FANCA(2175), FTO(79068), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), EFNB1(1947), TPM2(7169), G6PC3(92579)]
ABNORMALITY OF MALE INTERNAL GENITALIA(HP:0000022)	[FBN1(2200), ATRX(546), ATR(545), PROK2(60675), CCBE1(147372), GLRB(2743), GLRA1(2741), H19(283120), DNAJC19(131118), GLI3(2737), KCNQ1OT1(10984), KIT(3815), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), GLB1(2720), GPC3(2719), SEC23A(10484), B3GALTL(145173), ROR2(4920), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), POR(5447), MKKS(8195), SNRPN(6638), ZEB2(9839), RAPSN(5913), FGFR1(2260), OCRL(4952), FGFR2(2263), BBS12(166379), CDKN1C(1028), POLG(5428), SOS1(6654), GNRH1(2796), POLA1(5422), FGD1(2245), CYP11B1(1584), HPRT1(3251), FOXC2(2303), BBS1(582), KAL1(3730), BBS2(583), OPHN1(4983), BBS4(585), ICK(22858), NIPBL(25836), BBS10(79738), CCND1(595), KDM5C(8242), TMEM70(54968), DOK7(285489), CUL7(9820), SMS(6611), DMPK(1760), TRIM32(22954), EFEMP2(30008), ARL6(84100), TBX3(6926), STRA6(64220), ERCC6(2074), MTM1(4534), BUB1B(701), BTK(695), TCOF1(6949), BMP4(652), AGA(175), SOX18(54345), DKC1(1736), GALNS(2588), IRF6(3664), BLM(641), MKS1(54903), KISS1R(84634), NR0B1(190), COL1A2(1278), RECQL4(9401), COL1A1(1277), RAB3GAP1(22930), WHCR(7467), WFS1(7466), WHSC1(7468), INSL3(3640), ERCC8(1161), CEP290(80184), MED12(9968), GPHN(10243), DHCR7(1717), RXFP2(122042), DGCR(1714), WNT7A(7476), HFE(3077), EVC(2121), PHGDH(26227), FRAS1(80144), F13A1(2162), FANCA(2175), TFAP2A(7020), VHL(7428), ATP6V0A2(23545), LEPRE1(64175), GUSB(2990), BBS5(129880), NELF(26012), MYH3(4621), NSD1(64324), ESCO2(157570), STK11(6794), GNE(10020), AMH(268), AMHR2(269), SALL1(6299), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PTEN(5728), DCAF17(80067), CREBBP(1387), UNG(7374), RAB23(51715), MAN2B1(4125), ADAMTS2(9509), EVC2(132884), LOX(4015), MECP2(4204), TAC3(6866), TACR3(6870), SLC26A2(1836), COL5A2(1290), CUL4B(8450), COL5A1(1289), PHF6(84295), NDN(4692), GPC6(10082), COL2A1(1280), COL3A1(1281), CBS(875), TTC8(123016), PEX26(55670), PQBP1(10084), TBCE(6905), LHCGR(3973), LHB(3972), UBA1(7317), SLC39A4(55630), TBX1(6899), PORCN(64840), PEX3(8504), OFD1(8481), BBS7(55212), DHH(50846), AR(367), ATPAF2(91647), CHD7(55636), PEX19(5824), EP300(2033), ARSB(411), PLOD1(5351), ABCD3(5825), PEX2(5828), STS(412), PEX5(5830), RPS6KA3(6197), BRWD3(254065), FLNA(2316), PLOD2(5352), FLNB(2317), IDS(3423), MID1(4281), SOX10(6663), SOX2(6657), FLT4(2324), NEU1(4758), FMR1(2332), ELN(2006), TSPYL1(7259), ARX(170302), MBTPS2(51360), SLC6A5(9152), HSPG2(3339), CD96(10225), ZBTB16(7704), ATM(472), PTPN11(5781), FBLN5(10516), FREM2(341640), TP63(8626), FTO(79068), SEMA3E(9723), TPM2(7169), G6PC3(92579)]
ABNORMALITY OF METACARPAL EPIPHYSES(HP:0005913)	[WHCR(7467), SALL1(6299), WHSC1(7468), PCNT(5116), IHH(3549)]
ABNORMALITY OF MITOCHONDRIAL METABOLISM(HP:0003287)	[SUCLA2(8803), PDHA1(5160), SDHA(6389), POLG(5428), TSFM(10102), NDUFAF2(91942), PDP1(54704), HMGCL(3155), DNAJC19(131118), DGUOK(1716), NDUFA1(4694), ACADM(34), TK2(7084), ACADL(33), NDUFAF3(25915), ACADVL(37), NDUFA11(126328), CYBA(1535), NDUFAF4(29078), CYBB(1536), NDUFS1(4719), ETFDH(2110), TAZ(6901), ETFB(2109), ETFA(2108), C10orf2(56652), PCCB(5096), NDUFV1(4723), NDUFS2(4720), TMEM70(54968), NDUFS6(4726), C20orf7(79133), MPV17(4358), NDUFS4(4724), PDHX(8050), ATPAF2(91647), CPT2(1376), SDHAF1(644096), ISCU(23479), PCCA(5095)]
ABNORMALITY OF MOVEMENT(HP:0100022)	[FBN1(2200), FBN2(2201), FKRP(79147), SUCLG1(8802), FBP1(2203), CHAT(1103), SUCLA2(8803), MMADHC(27249), TINF2(26277), VPS33B(26276), SACS(26278), MCCC2(64087), HSD17B4(3295), REEP1(65055), DPM1(8813), DNAJC19(131118), SLC16A2(6567), SLC35C1(55343), FAH(2184), SLC22A5(6584), ABAT(18), HRAS(3265), ABCB7(22), COQ2(27235), FANCD2(2177), DOLK(22845), FANCC(2176), FA2H(79152), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), ACADM(34), ACADS(35), ACADL(33), LYST(1130), HSPB1(3315), ACADSB(36), ACADVL(37), SLC6A3(6531), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPZ(4359), C20orf7(79133), SLC12A3(6559), CHRNG(1146), MPV17(4358), POU1F1(5449), ACP2(53), CHRNE(1145), CHRND(1144), ACTA1(58), CHRNB1(1140), ACTB(60), SNRPN(6638), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), KCTD7(154881), BBS12(166379), POLG(5428), FGF14(2259), PRICKLE1(144165), SOS1(6654), HSPB8(26353), HOXA11(3207), FGD1(2245), SOD1(6647), ACY1(95), GDF6(392255), C8orf38(137682), SMN1(6606), FOXC2(2303), HPRT1(3251), CNBP(7555), FOXC1(2296), NDUFA11(126328), HPS1(3257), ALOXE3(59344), TRPV4(59341), WNK1(65125), FASTKD2(22868), PMP22(5376), SMS(6611), FHL1(2273), SMPD1(6609), ERBB3(2065), PRNP(5621), ERCC2(2068), ERCC3(2071), TRIM32(22954), CCT5(22948), ROBO3(64221), PRPS1(5631), SGCA(6442), STRA6(64220), ERCC6(2074), PRODH(5625), KIAA0196(9897), MTM1(4534), MAP2K1(5604), MAP2K2(5605), TMEM67(91147), MTHFR(4524), BLOC1S3(388552), ZIC1(7545), HMBS(3145), ADSL(158), FAM126A(84668), CLN8(2055), HLCS(3141), AGA(175), MFSD8(256471), SPG11(80208), SGCE(8910), AFP(174), CNGA3(1261), FGD4(121512), ETFDH(2110), ETFB(2109), ETFA(2108), PRKCG(5582), COL1A2(1278), RPIA(22934), COL1A1(1277), OPA3(80207), JAG1(182), RAB3GAP1(22930), XPA(7507), CNTN1(1272), GJB6(10804), WHCR(7467), WFS1(7466), WHSC1(7468), SIX3(6496), ERCC8(1161), ST3GAL5(8869), MVK(4598), CEP290(80184), MUSK(4593), MUT(4594), EIF2B2(8892), MED12(9968), EIF2B5(8893), PPT1(5538), TRIM37(4591), NCF1(653361), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), BEAN(146227), HEXA(3073), HEXB(3074), GDAP1(54332), ABCD1(215), WNT7A(7476), SLC4A1(6521), EVC(2121), ALAD(210), PHGDH(26227), CLCNKA(1187), SMARCAL1(50485), FRAS1(80144), PPP2R2B(5521), FRMD7(90167), BEST1(7439), MFN2(9927), VLDLR(7436), CLCNKB(1188), FANCA(2175), WISP3(8838), TSEN54(283989), SLC39A13(91252), SHOX(6473), WNK4(65266), VWF(7450), CLN5(1203), TPP1(1200), CLN3(1201), MTRR(4552), ALPL(249), VRK1(7443), MTR(4548), ALOX12B(242), MTTP(4547), AMT(275), VCP(7415), BIN1(274), CPT1A(1374), PGK1(5230), SCN4A(6329), CPS1(1373), SCN1A(6323), NSD1(64324), ANCR(282), HPS5(11234), VDR(7421), MAPT(4137), POLG2(11232), MAT1A(4143), SLC6A19(340024), ATXN7(6314), ESCO2(157570), ATXN8OS(6315), CP(1356), SLC7A7(9056), COX15(1355), MATN3(4148), KIF21A(55605), GNE(10020), ATXN1(6310), AMPD1(270), ATXN2(6311), SC5DL(6309), UQCRB(7381), SALL1(6299), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), DCAF17(80067), NUP62(23636), C10orf2(56652), SCO2(9997), SLC25A4(291), SLC17A5(26503), CREBBP(1387), SIL1(64374), CNNM4(26504), UNG(7374), SLC12A6(9990), CPT2(1376), MAN2B1(4125), MANBA(4126), UCHL1(7345), PDHA1(5160), COMP(1311), APOB(338), CNGB3(54714), COL9A2(1298), INPP5E(56623), SDHA(6389), MECP2(4204), TSFM(10102), PDP1(54704), COL11A1(1301), COL5A2(1290), COL6A1(1291), COL5A1(1289), COL6A2(1292), COL6A3(1293), COL4A1(1282), GPC6(10082), PDSS1(23590), COL2A1(1280), FUCA1(2517), UBE3A(7337), FTL(2512), TTC8(123016), PEX26(55670), BSCL2(26580), POMGNT1(55624), VPS13B(157680), UBA1(7317), SLC39A4(55630), COX6B1(1340), HSPB3(8988), PLOD3(8985), PDE6C(5146), PANK2(80025), TYR(7299), IGHMBP2(3508), TTBK2(146057), GAA(2548), TYROBP(7305), TYRP1(7306), AR(367), UGT1A1(54658), ATPAF2(91647), SLC25A15(10166), ARSA(410), PLOD1(5351), TWIST1(7291), LARGE(9215), RPS6KA3(6197), BRWD3(254065), PHOX2A(401), PLP1(5354), FLNC(2318), FLNA(2316), CSTB(1476), TTR(7276), ATXN3(4287), TTPA(7274), MITF(4286), TTN(7273), AASS(10157), PMM2(5373), NKX2-5(1482), FMR1(2332), AP4M1(9179), ASPA(443), LRPPRC(10128), ASS1(445), TSPYL1(7259), TSHB(7252), ASL(435), CYBA(1535), L2HGDH(79944), CTSD(1509), ARX(170302), ADAMTS13(11093), ORAI1(84876), PLG(5340), SLC6A5(9152), MGAT2(4247), CTDP1(9150), ATP1A3(478), MBD5(55777), TRPS1(7227), RYR1(6261), CD96(10225), ATP1A2(477), ATM(472), ATIC(471), HSPD1(3329), LMBRD1(55788), MMP13(4322), MPI(4351), FXN(2395), PITX2(5308), ALG3(10195), MMAB(326625), PHKA1(5255), PHKB(5257), ALDH7A1(501), FTO(79068), HYLS1(219844), PHKG2(5261), PHYH(5264), MMP2(4313), HPS4(89781), TPM2(7169), RPS19(6223), ATP2A1(487), SERPINI1(5274), TPM3(7170), TPMT(7172), TH(7054), SH3TC2(79628), LRAT(9227), RET(5979), DCX(1641), AUH(549), ATRX(546), NPR2(4882), MMAA(166785), TGM1(7051), DDC(1644), TGFBR2(7048), ATXN8(724066), ATR(545), TGFBR1(7046), GAN(8139), GLRB(2743), VAPB(9217), TGFBI(7045), GLRA1(2741), DCTN1(1639), TGFB1(7040), MCCC1(56922), GLI3(2737), DCR(1637), NOG(9241), LRRK2(120892), THRB(7068), GLDC(2731), NPHP1(4867), NPC1(4864), CRLF1(9244), GLB1(2720), OPN1LW(5956), SBF2(81846), COLQ(8292), TK2(7084), GLA(2717), GPC3(2719), NKX2-1(7080), KIF5A(3798), DYSF(8291), MRPS22(56945), GK(2710), ROR2(4920), DDR2(4921), GJB2(2706), SLC9A6(10479), KCNMA1(3778), DBT(1629), GJA1(2697), DCC(1630), KCNQ2(3785), ATP7B(540), DBH(1621), ATP7A(538), KCNJ10(3766), NDUFS7(374291), NPHP4(261734), KCNJ11(3767), MKKS(8195), FBXO7(25793), OCA2(4948), GPR56(9289), RAPSN(5913), NDRG1(10397), OCRL(4952), BCS1L(617), COL18A1(80781), AAAS(8086), KCNC3(3748), GPR143(4935), ATXN10(25814), CYP27B1(1594), CYP27A1(1593), TUBB3(10381), KCNJ2(3759), DTNBP1(84062), OPA1(4976), ABHD5(51099), GNAS(2778), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), BBS4(585), TNNT1(7138), NDUFAF4(29078), KCNA1(3736), CYBB(1536), NIPBL(25836), ATP13A2(23400), BCHE(590), SIX6(4990), PABPN1(8106), IGHR(8117), BCKDHA(593), BBS10(79738), GM2A(2760), ZFPM2(23414), TMEM70(54968), KDM5C(8242), BCKDHB(594), SNAP29(9342), FAM123B(139285), DOK7(285489), OGDH(4967), MLYCD(23417), SDHAF1(644096), CRB1(23418), BTD(686), PLA2G6(8398), SLC25A22(79751), DMPK(1760), ATL1(51062), RPGR(6103), ZIC4(84107), ITPR1(3708), ARL6(84100), GATA1(2623), TCF4(6925), BRAF(673), OTC(5009), B4GALT7(11285), SLC19A3(80704), BUB1B(701), ALS2(57679), TREX1(11277), GAMT(2593), SLC46A1(113235), DNM2(1785), TCIRG1(10312), TCOF1(6949), GALC(2581), ZFYVE27(118813), TCN2(6948), BMP4(652), GALE(2582), PAFAH1B1(5048), BCOR(54880), DLAT(1737), DKC1(1736), PARK7(11315), DLD(1738), PRX(57716), FOXL2(668), MKS1(54903), GABRG2(2566), GNPAT(8443), C20orf54(113278), RECQL4(9401), PDHX(8050), MRPS16(51021), ETHE1(23474), DMD(1756), HPS6(79803), POMT2(29954), ZFYVE26(23503), PAX6(5080), INSR(3643), EHMT1(79813), B4GALT1(2683), CYP7B1(9420), PAX3(5077), ZMPSTE24(10269), INS(3630), GPHN(10243), RMRP(6023), DGUOK(1716), CA2(760), GDF1(2657), DHCR7(1717), DGCR(1714), CA8(767), PARK2(5071), AHI1(54806), DYM(54808), CYB5R3(1727), EPM2A(7957), GFAP(2670), ITM2B(9445), COQ9(57017), GCH1(2643), ALG1(56052), GCK(2645), CLCF1(23529), TERC(7012), TERT(7015), DECR1(1666), SOST(50964), ROBLD3(28956), TIMM8A(1678), GCSH(2653), TFAP2B(7021), TFAP2A(7020), OPN1MW(2652), PCCB(5096), ATP6V0A2(23545), GBA(2629), GBE1(2632), CHST3(9469), APTX(54840), PC(5091), PCBD1(5092), GCDH(2639), PCCA(5095), CABC1(56997), MYCN(4613), CLDN19(149461), P2RY12(64805), BBS5(129880), MYH3(4621), SETX(23064), SALL4(57167), CC2D2A(57545), GJC2(57165), CAPN3(825), EDNRB(1910), MYF6(4618), IKBKG(8517), IKBKAP(8518), CDKL5(6792), GUCY2D(3000), MYH7(4625), PTCH1(5727), RAB7A(7879), FOXP2(93986), TYMP(1890), STIM1(6786), CANT1(124583), MYO7A(4647), NIPA1(123606), MYO5A(4644), SEPN1(57190), KIF1B(23095), LRP2(4036), PRKRA(8575), LRP5(4041), PTEN(5728), UPB1(51733), SURF1(6834), MCOLN1(57192), ABCC8(6833), CACNA1A(773), AP3B1(8546), ALDH5A1(7915), NAGA(4668), TCAP(8557), PTH1R(5745), SUOX(6821), CACNA1F(778), CACNA1S(779), DYT3(1863), TOR1A(1861), TAF1(6872), LMNB1(4001), LMNA(4000), ALG6(29929), EVC2(132884), NHLRC1(378884), CYP2R1(120227), LMX1B(4010), PRPS2(5634), NCF2(4688), SLC26A2(1836), HTT(3064), PSAP(5660), PDSS2(57107), SPG20(23111), CUL4B(8450), LPL(4023), PSEN1(5663), NDN(4692), PHF6(84295), BSND(7809), NDUFA1(4694), TREM2(54209), NDUFA2(4695), HCRT(3060), NEB(4703), ATN1(1822), TUBA8(51807), TBP(6908), HPS3(84343), TBX1(6899), ATCAY(85300), PORCN(64840), DRD2(1813), PEX3(8504), NDUFS1(4719), LIFR(3977), EBP(10682), NDUFS3(4722), DPYD(1806), DPYS(1807), NDUFV1(4723), NDUFS2(4720), HADHB(3032), HADH(3033), OFD1(8481), CLDN16(10686), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), MOGS(7841), DPAGT1(1798), AGRN(375790), NDUFS8(4728), CASR(846), HADHA(3030), PRSS12(8492), HSD17B10(3028), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), CD40(958), CD40LG(959), PEX2(5828), PEX5(5830), NEFL(4747), ALDH18A1(5832), SCARB2(950), SPG7(6687), NDUFAF2(91942), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), NF1(4763), UQCRQ(27089), NEU1(4758), ANO5(203859), POMT1(10585), PLEKHG5(57449), LAMB2(3913), GPI(2821), NDUFAF3(25915), VPS13A(23230), ARHGEF9(23229), QDPR(5860), EMD(2010), D2HGDH(728294), NF2(4771), LAMA2(3908), SPTBN2(6712), PNPO(55163), LBR(3930), MLC1(23209), GFM1(85476), JPH3(57338), LAMP2(3920), THAP1(55145), SPR(6697), NHS(4810), ZBTB16(7704), SLC25A12(8604), PTPN11(5781), PINK1(65018), EGR2(1959), L1CAM(3897), NME1(4830), GSS(2937), EIF2B1(1967), NPHP3(27031), FREM2(341640), RNASET2(8635), CHMP2B(25978), KRT5(3852), KRAS(3845), PTS(5805), MMACHC(25974), EFNB1(1947), SUMF1(285362), AICDA(57379), GRN(2896), SLITRK1(114798), PDE8B(8622), SLC34A3(142680), PNP(4860), PNKD(25953), NOTCH3(4854)]
ABNORMALITY OF MUSCLE FIBERS(HP:0004303)	[MYOT(9499), CHAT(1103), RYR1(6261), TRIM32(22954), RAPSN(5913), SDHA(6389), BCS1L(617), SGCG(6445), POLG(5428), FLNC(2318), MUSK(4593), GLI3(2737), COL6A1(1291), CRYAB(1410), PDSS2(57107), MYH7(4625), COL6A2(1292), COL6A3(1293), COQ2(27235), UQCRQ(27089), PDSS1(23590), TYMP(1890), NEB(4703), UQCRB(7381), OPA1(4976), COLQ(8292), TK2(7084), CHRNA1(1134), CNBP(7555), COQ9(57017), SEPN1(57190), DYSF(8291), TNNT1(7138), C10orf2(56652), SLC25A4(291), CHRNE(1145), CHRND(1144), TPM2(7169), ACTA1(58), APTX(54840), TCAP(8557), TPM3(7170), CHRNB1(1140), SDHAF1(644096), FHL1(2273), CABC1(56997), LDB3(11155)]
ABNORMALITY OF MUSCULATURE(HP:0003011)	[FBN1(2200), FKRP(79147), SUCLG1(8802), FBP1(2203), CHAT(1103), SUCLA2(8803), MMADHC(27249), VPS33B(26276), SPINK5(11005), SACS(26278), MCCC2(64087), HSD17B4(3295), REEP1(65055), H19(283120), DPM1(8813), SLC16A1(6566), SLC16A2(6567), TRPM6(140803), SLC35C1(55343), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), ABCA1(19), ABAT(18), HRAS(3265), COQ2(27235), DOLK(22845), MATR3(9782), UBR1(197131), GNPTAB(79158), CHRNA1(1134), ACADM(34), ACADS(35), PPARG(5468), ACADL(33), LYST(1130), HSPB1(3315), ACADSB(36), ACADVL(37), SLC6A3(6531), SLC5A5(6528), SLC6A8(6535), ACOX1(51), FKTN(2218), MPZ(4359), C20orf7(79133), SLC12A3(6559), CHRNG(1146), MPV17(4358), POU1F1(5449), ACP2(53), CHRNE(1145), SLC12A1(6557), CHRND(1144), ACTA1(58), PUS1(80324), CHRNB1(1140), SNRPN(6638), UPF3B(65109), FH(2271), ZEB2(9839), FGFR3(2261), CDKN1C(1028), POLG(5428), HSPB8(26353), ACY1(95), SOD1(6647), ACVR1(90), C8orf38(137682), PTRF(284119), SMN1(6606), FOXC2(2303), HPRT1(3251), CNBP(7555), NDUFA11(126328), WNK1(65125), TRPV4(59341), FASTKD2(22868), PMP22(5376), SMS(6611), FHL1(2273), SMPD1(6609), PRNP(5621), ERBB3(2065), TRIM32(22954), CCT5(22948), SGCB(6443), PRPS1(5631), ERCC6(2074), SGCA(6442), STRA6(64220), PRODH(5625), SGCG(6445), KIAA0196(9897), MTM1(4534), MAP2K1(5604), MAP2K2(5605), TMEM67(91147), MTHFR(4524), HMBS(3145), ADSL(158), FAM126A(84668), HLCS(3141), AGA(175), SPG11(80208), SGCE(8910), XDH(7498), MTMR2(8898), FGD4(121512), ETFDH(2110), VMA21(203547), ETFB(2109), ETFA(2108), NR0B1(190), AGXT(189), COL1A2(1278), AGL(178), COL1A1(1277), RAB3GAP1(22930), CNTN1(1272), WHCR(7467), SEPT9(10801), WHSC1(7468), SIX3(6496), ST3GAL5(8869), MVK(4598), CEP290(80184), MUSK(4593), EYA1(2138), MUT(4594), EIF2B2(8892), MED12(9968), EIF2B5(8893), PPT1(5538), TRIM37(4591), EIF2B4(8890), EIF2B3(8891), HEXA(3073), GDAP1(54332), HEXB(3074), CLCN1(1180), SLC4A1(6521), ALAD(210), PCDH15(65217), CLCNKA(1187), CLCN7(1186), MFN2(9927), VLDLR(7436), CLCNKB(1188), WISP3(8838), SLC39A13(91252), PPP1R3A(5506), WAS(7454), MTRR(4552), ALPL(249), F10(2159), VRK1(7443), AMT(275), VCP(7415), BIN1(274), CPT1A(1374), PGK1(5230), SCN4A(6329), CPOX(1371), SCN9A(6335), PGAM2(5224), ANCR(282), NSD1(64324), VDR(7421), POLG2(11232), SLC7A7(9056), ALX3(257), COX15(1355), KIF21A(55605), PGM1(5236), GNE(10020), AMPD1(270), ATXN1(6310), ATXN2(6311), SC5DL(6309), UQCRB(7381), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), AIP(9049), PEX7(5191), UQCRC1(7384), C10orf2(56652), SCO2(9997), PFKM(5213), SLC25A4(291), SLC17A5(26503), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), MAN2B1(4125), MANBA(4126), PDHA1(5160), COL9A3(1299), SDHA(6389), INPP5E(56623), MECP2(4204), TSFM(10102), PDP1(54704), PDGFRA(5156), COL5A2(1290), COL6A1(1291), COL5A1(1289), COL6A2(1292), LEMD3(23592), COL6A3(1293), PDSS1(23590), COL2A1(1280), FUCA1(2517), UBE3A(7337), PEX26(55670), BSCL2(26580), POMGNT1(55624), VPS13B(157680), UBA1(7317), COX6B1(1340), G6PC(2538), HSPB3(8988), PLOD3(8985), PANK2(80025), IGHMBP2(3508), GAA(2548), AR(367), UGT1A1(54658), ATPAF2(91647), CHD7(55636), LDB3(11155), SLC25A15(10166), ARSA(410), ARSB(411), PLOD1(5351), LARGE(9215), RPS6KA3(6197), MGP(4256), BRWD3(254065), FLNC(2318), PLP1(5354), FLNA(2316), CTNS(1497), IDS(3423), ATXN3(4287), SLC33A1(9197), TTN(7273), AASS(10157), PMM2(5373), AP4M1(9179), ASPA(443), LRPPRC(10128), TSPYL1(7259), TSHB(7252), ARX(170302), ORAI1(84876), SLC6A5(9152), MGAT2(4247), PLEC(5339), CTDP1(9150), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), ATIC(471), HSPD1(3329), LMBRD1(55788), MPI(4351), CRYAB(1410), MOCS2(4338), MOCS1(4337), ALG3(10195), MMAB(326625), PHKA1(5255), ALDH7A1(501), PHKB(5257), FTO(79068), PHKG2(5261), PHYH(5264), MMP2(4313), TPM2(7169), ATP2A1(487), TPM3(7170), TH(7054), SH3TC2(79628), RET(5979), DCX(1641), ATRX(546), MMAA(166785), DDC(1644), GLRB(2743), GAN(8139), GLRA1(2741), VAPB(9217), DCTN1(1639), TGFB1(7040), MCCC1(56922), GLI3(2737), DCR(1637), GLE1(2733), GLDC(2731), GCM2(9247), NPHP1(4867), GCLC(2729), NPC1(4864), GLB1(2720), SBF2(81846), TK2(7084), COLQ(8292), GLA(2717), GPC3(2719), NKX2-1(7080), KIF5A(3798), DYSF(8291), MRPS22(56945), GK(2710), ROR2(4920), GJB1(2705), DDR2(4921), SYNE1(23345), SLC9A6(10479), DBT(1629), KCNQ2(3785), ATP7A(538), KCNJ10(3766), NDUFS7(374291), KCNJ11(3767), MKKS(8195), RAPSN(5913), NDRG1(10397), OCRL(4952), BCS1L(617), FGF23(8074), MED25(81857), AAAS(8086), KCNC3(3748), CYP27B1(1594), TUBB3(10381), TNFRSF1A(7132), KCNJ2(3759), KCNJ1(3758), OAT(4942), OPA1(4976), ABHD5(51099), GNAS(2778), TNFRSF11B(4982), OPHN1(4983), TNNT1(7138), NDUFAF4(29078), KCNA1(3736), PABPN1(8106), BCKDHA(593), GM2A(2760), TMEM70(54968), KDM5C(8242), SNAP29(9342), BCKDHB(594), FAM123B(139285), DOK7(285489), OGDH(4967), TPI1(7167), SDHAF1(644096), MLYCD(23417), BTD(686), PLA2G6(8398), SLC25A22(79751), DMPK(1760), ATL1(51062), GATA1(2623), TCF4(6925), BRAF(673), B4GALT7(11285), GARS(2617), BUB1B(701), ALS2(57679), TREX1(11277), GAMT(2593), KL(9365), SLC46A1(113235), BTK(695), DNM2(1785), TCIRG1(10312), DNMT3B(1789), ZFYVE27(118813), GALC(2581), TCN2(6948), BMP4(652), GALE(2582), PAFAH1B1(5048), DLAT(1737), GALNT3(2591), DLD(1738), PRX(57716), GNPAT(8443), C20orf54(113278), PDHX(8050), DMGDH(29958), MRPS16(51021), ETHE1(23474), DMD(1756), ISCU(23479), POMT2(29954), ZFYVE26(23503), INSR(3643), EHMT1(79813), ACAD9(28976), B4GALT1(2683), CYP7B1(9420), INS(3630), GPHN(10243), RMRP(6023), DGUOK(1716), DHCR7(1717), DGCR(1714), AHI1(54806), GCH1(2643), COQ9(57017), ALG1(56052), GCK(2645), CLCF1(23529), DECR1(1666), SOST(50964), TIMM8A(1678), GCSH(2653), DES(1674), PCCB(5096), ATP6V0A2(23545), GBE1(2632), APTX(54840), PC(5091), PCBD1(5092), GCDH(2639), PCCA(5095), CABC1(56997), MYOT(9499), MYH3(4621), SALL4(57167), SETX(23064), GJC2(57165), CAPN3(825), EDNRB(1910), MYF6(4618), IKBKAP(8518), CDKL5(6792), MYH7(4625), RAB7A(7879), PTCH1(5727), TYMP(1890), STIM1(6786), CANT1(124583), BAG3(9531), NIPA1(123606), YARS(8565), MYO5A(4644), SLC25A20(788), SEPN1(57190), KIF1B(23095), PTH(5741), LRP5(4041), PTEN(5728), UPB1(51733), MCOLN1(57192), SURF1(6834), ABCC8(6833), CACNA1A(773), LITAF(9516), ALDH5A1(7915), NAGA(4668), SUOX(6821), TCAP(8557), CACNA1S(779), TOR1A(1861), ADAMTS2(9509), LMNA(4000), KRIT1(889), ALG6(29929), CYP2R1(120227), LMX1B(4010), PRPS2(5634), PSAP(5660), PDSS2(57107), SPG20(23111), CUL4B(8450), SERPINA6(866), NDN(4692), PHF6(84295), BSND(7809), NDUFA1(4694), NDUFA2(4695), HCRT(3060), NEB(4703), ANKH(56172), TUBA8(51807), TBCE(6905), TBX1(6899), CAV3(859), ATCAY(85300), DRD2(1813), PEX3(8504), NDUFS1(4719), TAZ(6901), LIFR(3977), DPYD(1806), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), HADHB(3032), HADH(3033), OFD1(8481), NDUFS6(4726), CLDN16(10686), NDUFS4(4724), MOGS(7841), DPAGT1(1798), AGRN(375790), NDUFS8(4728), CASR(846), HADHA(3030), HSD17B10(3028), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), SLC19A2(10560), PEX5(5830), NEFL(4747), ALDH18A1(5832), LDHA(3939), SPG7(6687), NDUFAF2(91942), RBM28(55131), PYGM(5837), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), NF1(4763), UQCRQ(27089), ENO3(2027), NEU1(4758), POMT1(10585), ANO5(203859), LPIN1(23175), PLEKHG5(57449), SYNE2(23224), LAMB2(3913), GPI(2821), NDUFAF3(25915), VPS13A(23230), QDPR(5860), EMD(2010), D2HGDH(728294), LAMA2(3908), PNPO(55163), LAMP2(3920), SPR(6697), TNFSF11(8600), SLC25A12(8604), EGR2(1959), GSN(2934), EIF2B1(1967), NLRP3(114548), KRAS(3845), PTS(5805), SEMA3E(9723), EFNB1(1947), MMACHC(25974), PNP(4860), SLC34A3(142680), AGPAT2(10555), SPTLC1(10558)]
ABNORMALITY OF NEUTROPHIL(HP:0001874)	[CD40(958), CD40LG(959), MMAA(166785), HAX1(10456), LMBRD1(55788), CIITA(4261), RMRP(6023), CEBPE(1053), SBDS(51119), GSS(2937), FANCD2(2177), SLC46A1(113235), FANCC(2176), FANCE(2178), FMO3(2328), SMARCAL1(50485), TCN2(6948), SLC37A4(2542), MMAB(326625), AGA(175), FANCA(2175), FTCD(10841), RFXANK(8625), MMACHC(25974), PCCB(5096), RFX5(5993), LBR(3930), RFXAP(5994), AP3B1(8546), ELANE(1991), WAS(7454), PNP(4860), FAS(355), CASP10(843), CXCR4(7852), RPS19(6223), SLC35A1(10559), G6PC3(92579), PCCA(5095)]
ABNORMALITY OF OCULAR SMOOTH PURSUIT(HP:0000617)	[PRNP(5621), PLA2G6(8398), TMEM216(51259), ATXN8(724066), TBP(6908), ITPR1(3708), SACS(26278), SETX(23064), INPP5E(56623), SPTBN2(6712), FGF14(2259), ATXN8OS(6315), CACNA1A(773), ATXN3(4287), ALS2(57679), ATXN2(6311), MAN2B1(4125)]
ABNORMALITY OF PALATE(HP:0000174)	[FBN1(2200), FBN2(2201), FKRP(79147), RET(5979), TGIF1(7050), ATRX(546), TGFBR2(7048), ATR(545), CCBE1(147372), TGFBR1(7046), HSD17B4(3295), DPM1(8813), GLI3(2737), SATB2(23314), HRAS(3265), CRLF1(9244), ADAMTS10(81794), RPGRIP1L(23322), BBS9(27241), CHRNA1(1134), GPC3(2719), B3GALTL(145173), DDR2(4921), FKTN(2218), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), PUS1(80324), ACTA1(58), CHRNB1(1140), PROKR2(128674), DBH(1621), ATP7A(538), ACTB(60), MKKS(8195), FH(2271), UPF3B(65109), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CECR(1055), FGD1(2245), KCNJ2(3759), ACVRL1(94), GDF6(392255), FOXC2(2303), HPGD(3248), BBS1(582), KAL1(3730), BBS2(583), TNNI2(7136), ICK(22858), BBS4(585), TNNT3(7140), NIPBL(25836), BBS10(79738), FAM123B(139285), DOK7(285489), RB1(5925), SPRED1(161742), SMS(6611), TRIM32(22954), TBX15(6913), ARL6(84100), BRAF(673), MTM1(4534), MAP2K1(5604), MAP2K2(5605), BUB1B(701), HOXA2(3199), TCOF1(6949), BMP4(652), BCOR(54880), IRF6(3664), FOXL2(668), MKS1(54903), MSX2(4488), GNPAT(8443), RECQL4(9401), PDHX(8050), CNTN1(1272), POMT2(29954), WHCR(7467), INSR(3643), SEPT9(10801), SIX3(6496), WHSC1(7468), CEP290(80184), MUSK(4593), ZMPSTE24(10269), PAX3(5077), EYA1(2138), MED12(9968), DHCR24(1718), DHCR7(1717), DGCR(1714), FAM20C(56975), WNT3(7473), EVC(2121), PAK3(5063), FRAS1(80144), SHH(6469), CLCF1(23529), SLC39A13(91252), TFAP2A(7020), EIF2AK3(9451), SHOX(6473), TBX22(50945), ATP6V0A2(23545), MYCN(4613), TBX4(9496), BBS5(129880), MYH3(4621), NSD1(64324), ESCO2(157570), ALX3(257), PTCH1(5727), GNE(10020), SC5DL(6309), SEPN1(57190), TMEM216(51259), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), PTEN(5728), SLC17A5(26503), CREBBP(1387), SLC12A6(9990), RAB23(51715), CPT2(1376), LMNA(4000), EVC2(132884), NBN(4683), MECP2(4204), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), COL6A1(1291), IGBP1(3476), COL6A2(1292), COL6A3(1293), COL2A1(1280), CBS(875), TTC8(123016), PEX26(55670), PQBP1(10084), NEB(4703), UBB(7314), VPS13B(157680), ABCC6(368), TBX1(6899), PORCN(64840), PEX3(8504), RUNX2(860), OFD1(8481), BBS7(55212), MOGS(7841), CHD7(55636), PEX19(5824), EP300(2033), ABCD3(5825), FOXE1(2304), PEX2(5828), LARGE(9215), TWIST1(7291), PEX5(5830), RPS6KA3(6197), FLNA(2316), FLNB(2317), MID1(4281), SOX9(6662), ENG(2022), SLC35D1(23169), POMT1(10585), LBR(3930), ARX(170302), CTSK(1513), TRPS1(7227), CD96(10225), RYR1(6261), LMBRD1(55788), PTPN11(5781), FREM2(341640), ALG3(10195), STAT3(6774), HYAL1(3373), TP63(8626), FTO(79068), KRAS(3845), HYLS1(219844), EFNB1(1947), SEMA3E(9723), TPM2(7169), RPS19(6223), TPM3(7170), PVRL1(5818), G6PC3(92579)]
ABNORMALITY OF PAROTID GLAND(HP:0000197)	[TCOF1(6949), FGF10(2255), TP63(8626), FGFR3(2261)]
ABNORMALITY OF PERIAURICULAR REGION(HP:0000383)	[TCOF1(6949), WHCR(7467), SALL1(6299), GPC3(2719), WHSC1(7468), FGFR1(2260), FGFR2(2263), B3GALTL(145173), TFAP2A(7020), EIF2AK3(9451), FLNB(2317), EYA1(2138), GLI3(2737), ZFPM2(23414), ALX3(257), GDF1(2657), CECR(1055), KCNJ2(3759), RAB23(51715), JAG1(182), NKX2-5(1482)]
ABNORMALITY OF PHALANGEAL JOINTS OF THE HAND(HP:0006261)	[FBN1(2200), FBN2(2201), ABCD3(5825), PEX2(5828), LARGE(9215), TGFBR2(7048), TBX15(6913), TGFBR1(7046), CCBE1(147372), SALL4(57167), MYH3(4621), NSD1(64324), ERCC6(2074), GLI3(2737), ITGB4(3691), ALX3(257), CRLF1(9244), GNPTAB(79158), LAMB3(3914), NOD2(64127), LAMC2(3918), UROS(7390), ROR2(4920), SLC29A3(55315), LAMA3(3909), GJA1(2697), CHRNG(1146), POR(5447), RAB23(51715), CNTN1(1272), HSPG2(3339), TRPS1(7227), CD96(10225), WFS1(7466), COL17A1(1308), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), COL11A2(1302), PAX3(5077), MED12(9968), CDH3(1001), L1CAM(3897), TUBB3(10381), DYM(54808), PQBP1(10084), ADAMTSL2(9719), TNNI2(7136), TP63(8626), WISP3(8838), TNNT3(7140), SLC39A13(91252), LIFR(3977), HOXD13(3239), IGHMBP2(3508), MMP2(4313), FAM123B(139285), DOK7(285489), TPM2(7169), CHST3(9469)]
ABNORMALITY OF PROTEOGLYCAN METABOLISM(HP:0004355)	[IDS(3423), SGSH(6448), ARSB(411), GUSB(2990), HGSNAT(138050), GNS(2799), NAGLU(4669), GNPTAB(79158)]
ABNORMALITY OF PURINE METABOLISM(HP:0004352)	[HPRT1(3251), PPARG(5468), SLC37A4(2542), TNFRSF11B(4982), UOX(391051), G6PC(2538), ALDOB(229), PRPS1(5631), PRPS2(5634), PPP1R3A(5506), GPHN(10243), PFKM(5213), CLDN16(10686), SLC22A12(116085), HNF1B(6928), SLC17A3(10786), SLC2A2(6514), ALMS1(7840), UMOD(7369), MOCS2(4338), MOCS1(4337)]
ABNORMALITY OF PYRIMIDINE METABOLISM(HP:0004353)	[DPYD(1806), DPYS(1807), FANCD2(2177), FANCA(2175), FANCC(2176), FANCE(2178)]
ABNORMALITY OF REFRACTION(HP:0000539)	[FBN1(2200), ERBB3(2065), CLDN19(149461), PLOD1(5351), FBN2(2201), FKRP(79147), RPGR(6103), BBS5(129880), RP2(6102), TRIM32(22954), ARL6(84100), NSD1(64324), TCF4(6925), CC2D2A(57545), PRPS1(5631), ERCC6(2074), BRAF(673), MAP2K1(5604), MAP2K2(5605), NOG(9241), MITF(4286), ADAMTS10(81794), GNPTAB(79158), BBS9(27241), OPTN(10133), LRP2(4036), KERA(11081), MYOC(4653), B3GALTL(145173), PTEN(5728), SLC6A8(6535), BFSP2(8419), VSX1(30813), FOXL2(668), MKS1(54903), GJA8(2703), RECQL4(9401), ZNF469(84627), COL1A1(1277), CACNA1F(778), JAG1(182), ADAMTS2(9509), HSPG2(3339), MKKS(8195), SNRPN(6638), GRM6(2916), CNGB3(54714), ERCC8(1161), NYX(60506), CEP290(80184), BBS12(166379), COL11A1(1301), PRPS2(5634), COL18A1(80781), PTPN11(5781), COL5A2(1290), TRIM37(4591), COL5A1(1289), NDN(4692), FGD1(2245), TEAD1(7003), COL2A1(1280), CBS(875), OAT(4942), TTC8(123016), SMARCAL1(50485), POMGNT1(55624), VPS13B(157680), CYP1B1(1545), ABCC6(368), PCNT(5116), BBS1(582), VCAN(1462), BBS2(583), BBS4(585), KRAS(3845), TIMM8A(1678), PLOD3(8985), NIPBL(25836), TFAP2A(7020), TRPV4(59341), BBS10(79738), KDM5C(8242), TYR(7299), CLDN16(10686), BBS7(55212), ATP6V0A2(23545), SMS(6611), CRB1(23418)]
ABNORMALITY OF RETICULOCYTES(HP:0004312)	[TCN2(6948), PGK1(5230), ABCG8(64241), ABCG5(64240), PKLR(5313), FANCA(2175), GATA1(2623), ANK1(286), SEC23B(10483), PFKM(5213), ADAMTS13(11093), FANCD2(2177), FANCC(2176), RPS19(6223), CFH(3075), FANCE(2178), SLC4A1(6521)]
ABNORMALITY OF RETINAL ARTERIES(HP:0000630)	[BEST1(7439), PRPF3(9129), COL4A1(1282)]
ABNORMALITY OF SACCADIC EYE MOVEMENTS(HP:0000570)	[FBXO7(25793), TMEM216(51259), MFN2(9927), ATXN8(724066), ITPR1(3708), INPP5E(56623), TSEN54(283989), FGF14(2259), ATXN7(6314), ATXN8OS(6315), ATXN3(4287), NPHP1(4867), GBA(2629), APTX(54840), ATXN1(6310), ATXN2(6311)]
ABNORMALITY OF SECONDARY SEXUAL HAIR(HP:0009888)	[GJB6(10804), APOE(348), AR(367)]
ABNORMALITY OF SERUM AMINO ACID LEVELS(HP:0003112)	[AMT(275), PDHA1(5160), MMAB(326625), MMAA(166785), MMADHC(27249), DECR1(1666), GCSH(2653), MMACHC(25974), MUT(4594), PCCB(5096), GLDC(2731), GUCY2D(3000), AASS(10157), PDHX(8050), MTR(4548), PC(5091), PCCA(5095)]
ABNORMALITY OF SKELETAL MATURATION(HP:0000927)	[PEX19(5824), EP300(2033), ATRX(546), PEX5(5830), ATR(545), RPS6KA3(6197), CCBE1(147372), NSD1(64324), HSD17B4(3295), H19(283120), BRAF(673), CTNS(1497), GLI3(2737), FLNB(2317), MAP2K1(5604), MAP2K2(5605), KCNQ1OT1(10984), SLC7A7(9056), BTK(695), UBR1(197131), MC2R(4158), CANT1(124583), GPC3(2719), AGA(175), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), TSHR(7253), ROR2(4920), CREBBP(1387), ACAN(176), GH1(2688), GHR(2690), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), ZBTB16(7704), INSR(3643), WHSC1(7468), LHX4(89884), GDF5(8200), CDKN1C(1028), MMP13(4322), IGF1(3479), SBDS(51119), KCNJ2(3759), IGF1R(3480), CYP19A1(1588), TRH(7200), PEX26(55670), CYP11B1(1584), BSCL2(26580), TBCE(6905), PCNT(5116), KRAS(3845), PEX3(8504), NIPBL(25836), COX4I2(84701), TRPV4(59341), ALMS1(7840), CUL7(9820), AGPAT2(10555), CHST3(9469), PAX8(7849)]
ABNORMALITY OF SKIN PIGMENTATION(HP:0001000)	[DDB2(1643), RET(5979), TINF2(26277), ANCR(282), HPS5(11234), EDN3(1908), H19(283120), EDNRB(1910), FERMT1(55612), EDA(1896), IKBKG(8517), CDKL5(6792), HRAS(3265), KIT(3815), STK11(6794), SNAI2(6591), FANCD2(2177), FANCC(2176), FANCE(2178), MC2R(4158), UBR1(197131), RHO(6010), MSH6(2956), MYO5A(4644), CRX(1406), LYST(1130), KIF1B(23095), UROD(7389), SEC23A(10484), PTEN(5728), UROS(7390), SLC29A3(55315), CHM(1121), AP3B1(8546), SLC17A5(26503), CREBBP(1387), CACNA1F(778), ATP7A(538), SNRPN(6638), LMNA(4000), OCA2(4948), SDHD(6392), FGFR3(2261), SDHB(6390), NHP2(55651), NBN(4683), MECP2(4204), POLH(5429), PDGFRA(5156), AIRE(326), AAAS(8086), APC(324), SOS1(6654), NDN(4692), GPR143(4935), COL4A1(1282), UBE3A(7337), MEN1(4221), DTNBP1(84062), CYP11B1(1584), ADAR(103), MSH2(4436), GNAS(2778), ABCC6(368), HPS3(84343), PMS2(5395), PORCN(64840), HPS1(3257), LIFR(3977), PANK2(80025), TYR(7299), SPRED1(161742), TYRP1(7306), EP300(2033), ERCC2(2068), ERCC3(2071), ERCC4(2072), ERCC6(2074), SEMA4A(64218), RBM28(55131), CTNS(1497), IDS(3423), SOX10(6663), BLOC1S3(388552), MITF(4286), NF1(4763), MFRP(83552), PAH(5053), PRPF8(10594), DKC1(1736), BLM(641), TSC1(7248), TSC2(7249), NF2(4771), RAB27A(5873), PRKAR1A(5573), NR0B1(190), MRAP(56246), KITLG(4254), RECQL4(9401), XPC(7508), XPA(7507), HPS6(79803), GJB6(10804), INSR(3643), ATM(472), PIK3CA(5290), ERCC8(1161), MVK(4598), PAX3(5077), ZMPSTE24(10269), PTPN11(5781), HGD(3081), ABCD1(215), HFE(3077), NOP10(55505), SMARCAL1(50485), KRT5(3852), BEST1(7439), PCNT(5116), TERC(7012), TERT(7015), MLH1(4292), ROBLD3(28956), FANCA(2175), TP63(8626), VHL(7428), MMP2(4313), GBA(2629), ATP2A2(488), HPS4(89781), KRT14(3861), KRT10(3858)]
ABNORMALITY OF SKIN TEXTURE(HP:0010647)	[COL5A2(1290), EDA(1896), PLOD1(5351), COL5A1(1289), SLC2A10(81031), TNXB(7148), TGFBR1(7046), COL1A2(1278), COL3A1(1281), COL1A1(1277), ATP7A(538), ADAMTS2(9509)]
ABNORMALITY OF SKULL OSSIFICATION(HP:0002703)	[TNFSF11(8600), GNAS(2778), TBCE(6905), HGSNAT(138050), TRIP11(9321), SOST(50964), CRTAP(10491), PTEN(5728), ZMPSTE24(10269), COX4I2(84701), SGSH(6448), LBR(3930), CA2(760), ALMS1(7840), ALPL(249), NAGLU(4669), COL1A1(1277), LEPRE1(64175)]
ABNORMALITY OF SKULL SHAPE(HP:0002648)	[MYCN(4613), FBN1(2200), FBN2(2201), ATRX(546), NPR2(4882), TGFBR2(7048), MYH3(4621), CCBE1(147372), TGFBR1(7046), NSD1(64324), ANCR(282), VDR(7421), HSD17B4(3295), H19(283120), DPM1(8813), EDARADD(128178), DCR(1637), GLI3(2737), EDA(1896), ESCO2(157570), KCNQ1OT1(10984), CDKL5(6792), ADAMTS10(81794), PTCH1(5727), GNE(10020), UBR1(197131), GNPTAB(79158), GLB1(2720), PEX10(5192), DYNC2H1(79659), PEX14(5195), RAB39B(116442), PEX13(5194), SEC23A(10484), PEX1(5189), PEX7(5191), PTEN(5728), B3GALTL(145173), ROR2(4920), DDR2(4921), ACOX1(51), RAB3GAP2(25782), GJA1(2697), POU1F1(5449), CREBBP(1387), POR(5447), RAI1(10743), SLC12A6(9990), RAB23(51715), PTH1R(5745), CPT2(1376), MAN2B1(4125), ACTB(60), ATP7A(538), SNRPN(6638), UPF3B(65109), PDHA1(5160), FH(2271), FGFR1(2260), FGFR3(2261), INPP5E(56623), FGFR2(2263), MECP2(4204), CDKN1C(1028), CYP2R1(120227), PRPS2(5634), FGF10(2255), NDN(4692), GNS(2799), CYP27B1(1594), IGBP1(3476), KCNJ2(3759), GPC6(10082), KCNJ1(3758), FUCA1(2517), UBE3A(7337), EDAR(10913), PQBP1(10084), PEX26(55670), TBCE(6905), SMCR(6600), OPHN1(4983), PEX3(8504), NIPBL(25836), LIFR(3977), RUNX2(860), EBP(10682), DPYS(1807), ZFPM2(23414), OFD1(8481), FAM123B(139285), MOGS(7841), CUL7(9820), PEX19(5824), ABCD3(5825), PLA2G6(8398), ARSB(411), EP300(2033), PLOD1(5351), PEX2(5828), TWIST1(7291), PEX5(5830), PYCR1(5831), RPS6KA3(6197), GATA1(2623), PRPS1(5631), BRWD3(254065), BRAF(673), FLNA(2316), CTNS(1497), FLNB(2317), MAP2K1(5604), IDS(3423), MAP2K2(5605), MID1(4281), BUB1B(701), SOX9(6662), SOX2(6657), MAPK10(5602), ADSL(158), PMM2(5373), NKX2-5(1482), TCIRG1(10312), FMR1(2332), BMP4(652), AGA(175), LRPPRC(10128), D2HGDH(728294), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), LBR(3930), DLX3(1747), ARX(170302), GNPAT(8443), NFKBIA(4792), RECQL4(9401), PDHX(8050), COL1A1(1277), JAG1(182), CTSK(1513), CNTN1(1272), DMP1(1758), HSPG2(3339), WHCR(7467), CD96(10225), EHMT1(79813), WHSC1(7468), ATIC(471), MVK(4598), DHCR24(1718), MED12(9968), RMRP(6023), GDF1(2657), TRIM37(4591), DYM(54808), FREM2(341640), FRAS1(80144), PHEX(5251), HGSNAT(138050), STAT3(6774), SOST(50964), TP63(8626), FTO(79068), KRAS(3845), TFAP2B(7021), TFAP2A(7020), EFNB1(1947), MMACHC(25974), ATP6V0A2(23545), MMP2(4313), SLC34A3(142680), ALPL(249)]
ABNORMALITY OF SKULL SIZE(HP:0000240)	[FBN1(2200), FKRP(79147), CENPJ(55835), ATRX(546), VPS33B(26276), ATR(545), HSD17B4(3295), DPM1(8813), ACE(1636), REN(5972), GLI3(2737), SLC16A2(6567), SLC35C1(55343), HRAS(3265), FANCD2(2177), DOLK(22845), FANCC(2176), FANCE(2178), EMG1(10436), UBR1(197131), BBS9(27241), GPC3(2719), ACADSB(36), B3GALTL(145173), ROR2(4920), SLC6A8(6535), MCPH1(79648), FKTN(2218), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), C20orf7(79133), GJA1(2697), MPV17(4358), POR(5447), PUS1(80324), ATP7A(538), MKKS(8195), UPF3B(65109), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), POLH(5429), AAAS(8086), KCNJ2(3759), KCNJ1(3758), ASPM(259266), TNFRSF11B(4982), BBS1(582), BBS2(583), OPHN1(4983), BBS4(585), NDUFA11(126328), NDUFAF4(29078), NIPBL(25836), BBS10(79738), TMEM70(54968), SNAP29(9342), KDM5C(8242), FAM123B(139285), SPRED1(161742), TUBB2B(347733), SLC25A22(79751), ERCC2(2068), TRIM32(22954), ERCC3(2071), ARL6(84100), TCF4(6925), ERCC6(2074), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), MAP2K2(5605), BUB1B(701), MTHFR(4524), ADSL(158), MAPK10(5602), TREX1(11277), TCIRG1(10312), PAH(5053), AGA(175), PAFAH1B1(5048), DLAT(1737), DKC1(1736), BLM(641), PSAT1(29968), ETFDH(2110), ETFB(2109), ETFA(2108), MKS1(54903), AGTR1(185), GNPAT(8443), PDHX(8050), ZNF469(84627), KIAA1279(26128), AGT(183), RAB3GAP1(22930), XPA(7507), POMT2(29954), GAD1(2571), WHCR(7467), EHMT1(79813), WHSC1(7468), SIX3(6496), ERCC8(1161), B4GALT1(2683), MVK(4598), CEP290(80184), PAX3(5077), EIF2B2(8892), MED12(9968), DHCR24(1718), EIF2B5(8893), DGUOK(1716), PPT1(5538), DHCR7(1717), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), FAM20C(56975), DYM(54808), CYB5R3(1727), HEXB(3074), GFAP(2670), PAK3(5063), PHGDH(26227), NOP10(55505), FRAS1(80144), SHH(6469), ALG1(56052), PCNT(5116), FANCA(2175), TSEN54(283989), TFAP2A(7020), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), GCDH(2639), MYCN(4613), GUSB(2990), BBS5(129880), MYH3(4621), ANCR(282), NSD1(64324), ESCO2(157570), IKBKG(8517), CDKL5(6792), MYH8(4626), PTCH1(5727), IHH(3549), SC5DL(6309), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), RAB39B(116442), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), UPB1(51733), MCOLN1(57192), C10orf2(56652), AP3B1(8546), CREBBP(1387), SIL1(64374), CPT2(1376), MAN2B1(4125), PDHA1(5160), HCCS(3052), NHP2(55651), NBN(4683), INPP5E(56623), MECP2(4204), PHF6(84295), IGF1(3479), NDUFA1(4694), IGBP1(3476), IGF1R(3480), UBE3A(7337), RELN(5649), SYN1(6853), PQBP1(10084), PEX26(55670), TTC8(123016), TUBA8(51807), TBCE(6905), VPS13B(157680), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), DPYD(1806), TUBA1A(7846), NDUFV1(4723), NDUFS2(4720), OFD1(8481), BBS7(55212), NDUFS6(4726), NDUFS4(4724), DPAGT1(1798), ATPAF2(91647), CHD7(55636), PEX19(5824), ARSB(411), EP300(2033), ARSE(415), LARGE(9215), PEX5(5830), PYCR1(5831), RPS6KA3(6197), ALDH18A1(5832), BRWD3(254065), PLP1(5354), NDUFAF2(91942), RBM28(55131), IDS(3423), SOX9(6662), SOX2(6657), NF1(4763), SLC35D1(23169), PMM2(5373), POMT1(10585), FMR1(2332), AP4M1(9179), ASPA(443), NDUFAF3(25915), QDPR(5860), D2HGDH(728294), SP110(3431), PNPO(55163), CTSD(1509), LBR(3930), MLC1(23209), GFM1(85476), ARX(170302), PLG(5340), MGAT2(4247), SPR(6697), CD96(10225), ZBTB16(7704), HSPD1(3329), L1CAM(3897), EIF2B1(1967), FREM2(341640), RNASET2(8635), ALG3(10195), CDK5RAP2(55755), FTO(79068), KRAS(3845), PTS(5805), MMACHC(25974), SEMA3E(9723), RPS19(6223), G6PC3(92579)]
ABNORMALITY OF SOMATOSENSORY EVOKED POTENTIALS(HP:0007377)	[FKRP(79147), CD96(10225), LARGE(9215), B4GALT1(2683), EVC2(132884), FTO(79068), HYLS1(219844), EBP(10682), FKTN(2218), MKS1(54903), DHCR7(1717), BUB1B(701), PLG(5340), NPHP3(27031), POMT1(10585), EVC(2121), POMT2(29954)]
ABNORMALITY OF SUBCUTANEOUS FAT TISSUE(HP:0001001)	[FBN1(2200), LMNB2(84823), PPARG(5468), FH(2271), ERCC2(2068), LMNA(4000), ERCC3(2071), RBM28(55131), TGFB1(7040), ZMPSTE24(10269), PPP1R3A(5506), GTF2H5(404672), SLC2A2(6514), PMM2(5373)]
ABNORMALITY OF SULFUR-CONTAINING AMINO ACIDS(HP:0004339)	[SLC25A13(10165), MMADHC(27249), MAT1A(4143), LMBRD1(55788), MMACHC(25974), FAH(2184), GPHN(10243), MTHFR(4524), GNMT(27232), AHCY(191), MTRR(4552), MTR(4548), SUOX(6821), MOCS2(4338), MOCS1(4337)]
ABNORMALITY OF SUPEROXIDE METABOLISM(HP:0004358)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
ABNORMALITY OF T-CELLS(HP:0002843)	[AK2(204), CD40LG(959), ATM(472), TNFRSF13B(23495), CIITA(4261), DGCR(1714), RAG2(5897), RAG1(5896), DNMT3B(1789), SMARCAL1(50485), CD8A(925), SLC39A4(55630), TBX1(6899), RFXANK(8625), IL2RG(3561), RFX5(5993), RAB27A(5873), RFXAP(5994), WAS(7454), PNP(4860), FAS(355), UMPS(7372), CASP10(843), CASP8(841), ICOS(29851)]
ABNORMALITY OF TASTE SENSATION(HP:0000223)	[WNK1(65125), IKBKAP(8518)]
ABNORMALITY OF TEAR GLANDS OR TEAR PRODUCTION(HP:0000521)	[NOP10(55505), TCOF1(6949), FRAS1(80144), EP300(2033), SCN9A(6335), TWIST1(7291), ERCC8(1161), TP63(8626), DKC1(1736), FGFR3(2261), NHP2(55651), FGFR2(2263), ERCC6(2074), TFAP2A(7020), SEMA4A(64218), EYA1(2138), AAAS(8086), IKBKAP(8518), FGF10(2255), CREBBP(1387), FREM2(341640), UBR1(197131)]
ABNORMALITY OF TEETH SPACING(HP:0006478)	[RPS6KA3(6197), ZEB2(9839), TP63(8626), GALNS(2588), ANCR(282), TCF4(6925), MECP2(4204), NIPBL(25836), VSX1(30813), IDS(3423), CDH3(1001), COL5A2(1290), DLX3(1747), COL5A1(1289), CDKL5(6792), FGF3(2248), CHST3(9469), UBE3A(7337), COL1A1(1277), EVC(2121), MAN2B1(4125), ACVR1(90), GLB1(2720)]
ABNORMALITY OF TEMPERATURE REGULATION(HP:0004370)	[PRNP(5621), FBP1(2203), DDC(1644), SCN1A(6323), AVPR2(554), HMGCL(3155), EDARADD(128178), SLC19A3(80704), EDA(1896), IKBKAP(8518), TREX1(11277), CRLF1(9244), STIM1(6786), LPIN1(23175), CHRNA1(1134), GALC(2581), ACADSB(36), QDPR(5860), NTRK1(4914), C10orf2(56652), GABRG2(2566), CACNA1A(773), ELANE(1991), ADAMTS13(11093), CHRNG(1146), SPINK1(6690), MPV17(4358), ORAI1(84876), SLC12A1(6557), CHRND(1144), KCNQ2(3785), COL1A1(1277), DBH(1621), ATP7A(538), ATP1A3(478), HSPG2(3339), PRSS1(5644), SNRPN(6638), RYR1(6261), ATP1A2(477), RAPSN(5913), NGF(4803), HSPD1(3329), EIF2B2(8892), EIF2B5(8893), DGUOK(1716), NDN(4692), MEFV(4210), EIF2B4(8890), EIF2B3(8891), TNFRSF1A(7132), NME1(4830), KCNJ1(3758), EIF2B1(1967), CYP21A2(1589), CFH(3075), EDAR(10913), CYP11B2(1585), GCH1(2643), NLRP3(114548), PTS(5805), LIFR(3977), PCDH19(57526), AQP2(359), ALPL(249), GAA(2548), PAX8(7849)]
ABNORMALITY OF THE 1ST METACARPAL(HP:0010009)	[NOG(9241), PCNT(5116), HOXA13(3209), SALL4(57167), GDF5(8200), IHH(3549), CANT1(124583), ACVR1(90)]
ABNORMALITY OF THE 1ST METATARSAL(HP:0010054)	[TWIST1(7291), FGFR2(2263), CANT1(124583)]
ABNORMALITY OF THE 2ND FINGER(HP:0004100)	[MYCN(4613), GDF5(8200), IHH(3549), BMPR1B(658), FLNA(2316)]
ABNORMALITY OF THE 2ND METACARPAL(HP:0010010)	[RUNX2(860)]
ABNORMALITY OF THE 3RD FINGER(HP:0004150)	[GDF5(8200), IHH(3549)]
ABNORMALITY OF THE 3RD METACARPAL(HP:0010011)	[LBR(3930)]
ABNORMALITY OF THE 3RD TOE(HP:0010320)	[SALL1(6299)]
ABNORMALITY OF THE 4TH FINGER(HP:0004188)	[IHH(3549)]
ABNORMALITY OF THE 4TH METACARPAL(HP:0010012)	[LBR(3930), GLI3(2737)]
ABNORMALITY OF THE 5TH FINGER(HP:0004207)	[MYCN(4613), EP300(2033), TWIST1(7291), BBS5(129880), TBX15(6913), TRIM32(22954), ATR(545), GATA1(2623), ARL6(84100), TGFBR1(7046), TBX3(6926), LMBR1(64327), H19(283120), FLNA(2316), DCR(1637), FLNB(2317), GLI3(2737), ALX3(257), RPGRIP1L(23322), IFT80(57560), IHH(3549), EMG1(10436), UBR1(197131), NKX2-5(1482), BBS9(27241), SC5DL(6309), GPC3(2719), TMEM216(51259), B3GALTL(145173), ROR2(4920), BLM(641), LBR(3930), MKS1(54903), GJA1(2697), CREBBP(1387), RAB23(51715), JAG1(182), BMPR1B(658), MKKS(8195), CD96(10225), EVC2(132884), INPP5E(56623), GDF5(8200), FGFR2(2263), CEP290(80184), BBS12(166379), LMX1B(4010), GDF1(2657), DHCR7(1717), HOXA11(3207), KCNJ2(3759), HOXA13(3209), WNT7A(7476), EVC(2121), PQBP1(10084), TTC8(123016), ACVR1(90), PCNT(5116), BBS1(582), BBS2(583), BBS4(585), PORCN(64840), HYLS1(219844), TFAP2B(7021), TFAP2A(7020), NIPBL(25836), EFNB1(1947), BBS10(79738), ZFPM2(23414), OFD1(8481), HOXD13(3239), FAM123B(139285), BBS7(55212), CUL7(9820), DPAGT1(1798), CHST3(9469)]
ABNORMALITY OF THE 5TH METACARPAL(HP:0010013)	[LBR(3930)]
ABNORMALITY OF THE 5TH TOE(HP:0010322)	[LBR(3930), CD96(10225), DHCR7(1717), HOXD13(3239), RPGRIP1L(23322), LMBR1(64327), EVC(2121), SC5DL(6309), GLI3(2737)]
ABNORMALITY OF THE ABDOMEN(HP:0001438)	[FBN1(2200), FKRP(79147), FBP1(2203), CHAT(1103), SUCLA2(8803), TINF2(26277), VPS33B(26276), SPINK5(11005), PPOX(5498), CCBE1(147372), HSD17B4(3295), FERMT3(83706), H19(283120), REEP1(65055), DPM1(8813), SLC16A1(6566), DNAJC19(131118), SLC16A2(6567), FAH(2184), KCNQ1OT1(10984), SLC22A5(6584), ABCA1(19), HRAS(3265), GNMT(27232), SNAI2(6591), CTSA(5476), MATR3(9782), UBR1(197131), GNPTAB(79158), BBS9(27241), ACADM(34), CHRNA1(1134), FECH(2235), ACADS(35), PPARG(5468), ACADL(33), LYST(1130), ACAT1(38), ACADVL(37), NEUROG3(50674), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), SLC29A3(55315), ACOX1(51), FKTN(2218), MPL(4352), MPZ(4359), C20orf7(79133), CHRNG(1146), MPV17(4358), POU1F1(5449), ACP2(53), CHRNE(1145), SLC12A1(6557), CHRND(1144), POR(5447), ACTA1(58), CHRNB1(1140), ACTB(60), SNRPN(6638), ZEB2(9839), FGFR1(2260), FGFR2(2263), CDKN1C(1028), POLG(5428), BBS12(166379), CDKN2A(1029), CECR(1055), FGD1(2245), FGB(2244), SOD1(6647), ACVRL1(94), FGA(2243), PTRF(284119), HPRT1(3251), MSH2(4436), ADA(100), PNLIP(5406), SFTPA2(729238), PMS2(5395), NDUFA11(126328), HPS1(3257), WNK1(65125), CFTR(1080), HOXD13(3239), FASTKD2(22868), HSD3B7(80270), CUL7(9820), HPD(3242), SMPD1(6609), PRNP(5621), ERBB2(2064), ABCA12(26154), ERCC2(2068), TRIM32(22954), ERCC3(2071), PHOX2B(8929), STRA6(64220), ERCC6(2074), HMGCL(3155), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), TMEM67(91147), BLOC1S3(388552), HMBS(3145), MAPK10(5602), ZIC3(7547), ABCC2(1244), HLCS(3141), PRKCSH(5589), AGA(175), ABCG8(64241), SPG11(80208), ABCG5(64240), AFP(174), WT1(7490), ETFDH(2110), ETFB(2109), ETFA(2108), PRKCG(5582), AGL(178), COL1A2(1278), COL1A1(1277), KIAA1279(26128), JAG1(182), CNTN1(1272), WHCR(7467), WFS1(7466), HK1(3098), WHSC1(7468), SIX3(6496), ERCC8(1161), ST3GAL5(8869), MVK(4598), CEP290(80184), MUSK(4593), MUTYH(4595), EYA1(2138), MUT(4594), MED12(9968), TRIM37(4591), NCF1(653361), SLC17A3(10786), SLC2A2(6514), SLC5A2(6524), WNT3(7473), HEXB(3074), CFH(3075), CLCN1(1180), SLC4A1(6521), HFE(3077), ALAD(210), SLC5A1(6523), NOP10(55505), SMARCAL1(50485), FRAS1(80144), ALDOB(229), SI(6476), TSEN54(283989), ALDOA(226), VHL(7428), COX4I2(84701), PPP1R3A(5506), VWF(7450), WAS(7454), ALPL(249), F9(2158), MCEE(84693), VRK1(7443), MTR(4548), MNX1(3110), MTTP(4547), LEPRE1(64175), BIN1(274), CPT1A(1374), CPS1(1373), SCN9A(6335), CPOX(1371), CLDN1(9076), NAGS(162417), NSD1(64324), ANCR(282), HPS5(11234), VDR(7421), MAPT(4137), ANK1(286), ATXN7(6314), ESCO2(157570), ATXN8OS(6315), SLC7A7(9056), ABCB4(5244), GNE(10020), ATXN1(6310), ATXN2(6311), AMH(268), AMHR2(269), SC5DL(6309), UQCRB(7381), SALL1(6299), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), UROD(7389), PSTPIP1(9051), UROS(7390), IL2RG(3561), NUP62(23636), CRH(1392), C10orf2(56652), SCO2(9997), PFKM(5213), FSHR(2492), SLC17A5(26503), SEC63(11231), CREBBP(1387), ATP8B1(5205), CPT2(1376), MAN2B1(4125), IFNGR1(3459), TREH(11181), APOB(338), NHP2(55651), INPP5E(56623), APOE(348), MECP2(4204), TSFM(10102), PDP1(54704), AMACR(23600), PDGFRL(5157), APOC2(344), PDGFRA(5156), AIRE(326), COL5A2(1290), COL6A1(1291), COL4A6(1288), APC(324), COL5A1(1289), COL7A1(1294), MEFV(4210), COL6A2(1292), COL6A3(1293), GPC6(10082), APOA1(335), COL2A1(1280), FUCA1(2517), MEN1(4221), COL3A1(1281), UBE3A(7337), FTL(2512), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), SLC37A4(2542), VPS13B(157680), UBA1(7317), SLC39A4(55630), ABCC6(368), COX6B1(1340), G6PD(2539), G6PC(2538), ARG1(383), MCM6(4175), PCSK1(5122), PLOD3(8985), AQP2(359), PANK2(80025), IGHMBP2(3508), CDAN1(146059), FAS(355), GAA(2548), SCNN1G(6340), IGKC(3514), AR(367), ATPAF2(91647), KLF6(1316), UGT1A1(54658), SCNN1A(6337), CHD7(55636), SCNN1B(6338), SLC25A15(10166), ARSA(410), PLOD1(5351), ARSB(411), SLC25A13(10165), LARGE(9215), RPS6KA3(6197), CTNNB1(1499), FLNA(2316), PLOD2(5352), CIITA(4261), CTNS(1497), IDS(3423), MID1(4281), TTR(7276), ATXN3(4287), MITF(4286), PMM2(5373), FMO3(2328), TRMU(55687), MET(4233), LRPPRC(10128), ASS1(445), PKLR(5313), PKHD1(5314), TSPYL1(7259), TSHB(7252), ASL(435), SP110(3431), CYBA(1535), ASAH1(427), ARX(170302), ADAMTS13(11093), ASCL1(429), MBTPS2(51360), PLG(5340), SLC6A5(9152), ATP1A3(478), HSPG2(3339), RYR1(6261), CD96(10225), PIK3CA(5290), HSPD1(3329), LMBRD1(55788), MPI(4351), SERPINC1(462), TRH(7200), PKD2(5311), MOCS2(4338), PKD1(5310), MOCS1(4337), PITX2(5308), ALG3(10195), MMAB(326625), DCLRE1C(64421), MLH1(4292), PHKA2(5256), PHKB(5257), FTO(79068), HYLS1(219844), PHKG2(5261), CSF3R(1441), SERPINA1(5265), ANTXR2(118429), HPS4(89781), TPM2(7169), RPS19(6223), TPM3(7170), G6PC3(92579), RET(5979), ATRX(546), MMAA(166785), DDC(1644), ATXN8(724066), GLRB(2743), GLRA1(2741), AVPR2(554), SLC11A2(4891), TGFB1(7040), MCCC1(56922), DCR(1637), GLI3(2737), NPHS1(4868), KIT(3815), REG1A(5967), THPO(7066), NPC1(4864), CRLF1(9244), RPGRIP1L(23322), GLB1(2720), COLQ(8292), GLA(2717), GPC3(2719), MRPS22(56945), GK(2710), ROR2(4920), RHAG(6005), GJB1(2705), SEC23B(10483), TMPRSS6(164656), RFX5(5993), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), RFXAP(5994), DBT(1629), VANGL1(81839), ATP7B(540), GIF(2694), AXIN1(8312), ATP7A(538), SAR1B(51128), GP1BA(2811), KCNJ11(3767), MKKS(8195), GP9(2815), GP1BB(2812), RAPSN(5913), OCRL(4952), BCS1L(617), BDNF(627), AAAS(8086), ATXN10(25814), GNS(2799), CYP27B1(1594), SBDS(51119), RAG2(5897), TNFRSF1A(7132), RAG1(5896), KCNJ1(3758), CYP11B2(1585), DTNBP1(84062), ABHD5(51099), TRIP11(9321), BBS1(582), BBS2(583), BBS4(585), NDUFAF4(29078), CYBB(1536), NIPBL(25836), PABPN1(8106), BCKDHA(593), JAK2(3717), BBS10(79738), CCND1(595), TMEM70(54968), BCKDHB(594), FAM123B(139285), DOK7(285489), IVD(3712), TPI1(7167), TP53(7157), MLYCD(23417), AMN(81693), BTD(686), PLA2G6(8398), DMPK(1760), TBXAS1(6916), OXCT1(5019), EFEMP2(30008), GATA1(2623), ARL6(84100), HNF1A(6927), TBX3(6926), TCF4(6925), ITK(3702), BRAF(673), OTC(5009), SLC19A3(80704), ITGB3(3690), ITGB4(3691), ITGB2(3689), BUB1B(701), HNF1B(6928), GALT(2592), ALS2(57679), CUBN(8029), TREX1(11277), SLC46A1(113235), BTK(695), TCIRG1(10312), DNMT3B(1789), GALC(2581), TCN2(6948), GALE(2582), ITGA2B(3674), GALNS(2588), DKC1(1736), DLD(1738), PSAT1(29968), GALK1(2584), BPGM(669), MKS1(54903), IRF1(3659), C20orf54(113278), RECQL4(9401), MRPS16(51021), ETHE1(23474), PDX1(3651), BMPR1A(657), HPS6(79803), ITGA6(3655), POMT2(29954), ZFYVE26(23503), INSR(3643), ACAD9(28976), FLCN(201163), TNFRSF13B(23495), PAX4(5078), PAX3(5077), INS(3630), GPHN(10243), RMRP(6023), DGUOK(1716), CA2(760), DHCR7(1717), DGCR(1714), EPM2A(7957), GDNF(2668), GCH1(2643), ALG1(56052), HGSNAT(138050), TEK(7010), GCK(2645), CLCF1(23529), TERC(7012), TERT(7015), PCK1(5105), PCK2(5106), TIMM8A(1678), TF(7018), TFAP2A(7020), EIF2AK3(9451), SERPING1(710), DES(1674), PCCB(5096), ATP6V0A2(23545), GBA(2629), IL12B(3593), GBE1(2632), PC(5091), GCDH(2639), PCCA(5095), C5(727), MYCN(4613), GUSB(2990), LYZ(4069), SH2D1A(4068), BBS5(129880), MYH3(4621), SETX(23064), SALL4(57167), EPCAM(4072), EDNRA(1909), EDN3(1908), EDNRB(1910), MANF(7873), FOXP3(50943), IKBKAP(8518), CDKL5(6792), GUCY2D(3000), STK11(6794), MYH8(4626), MYH9(4627), SMAD4(4089), TYMP(1890), BAG3(9531), MYO5B(4645), MSH6(2956), SLC25A20(788), LRP2(4036), PRKRA(8575), PTEN(5728), UPB1(51733), MCOLN1(57192), ABCC8(6833), CACNA1A(773), AP3B1(8546), RAB23(51715), NAGLU(4669), ICOS(29851), ADAMTS2(9509), PRSS1(5644), LMNB1(4001), HCCS(3052), LMNA(4000), KRIT1(889), ALG6(29929), NBN(4683), LOX(4015), HBB(3043), NHLRC1(378884), NCF2(4688), PSAP(5660), SLC26A2(1836), LPL(4023), PSEN1(5663), NDN(4692), SPINT2(10653), NDUFA1(4694), CBS(875), NEB(4703), TMPRSS15(5651), TBP(6908), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), SLC26A3(1811), NDUFS1(4719), LIFR(3977), DPYS(1807), NDUFV1(4723), LIPA(3988), NDUFS2(4720), HADHB(3032), HADH(3033), OFD1(8481), CLDN16(10686), NDUFS6(4726), BBS7(55212), HBA1(3039), NDUFS4(4724), ALMS1(7840), MOGS(7841), CASP10(843), CASP8(841), CASR(846), HADHA(3030), PAX8(7849), PEX19(5824), PIGM(93183), ABCD3(5825), EP300(2033), CD40LG(959), PEX2(5828), SLC19A2(10560), PEX5(5830), PYCR1(5831), SCARB2(950), LCT(3938), SPG7(6687), PYGL(5836), NDUFAF2(91942), SOX10(6663), SOX2(6657), NPC2(10577), ENG(2022), UQCRQ(27089), ABCB11(8647), NEU1(4758), POMT1(10585), LAMB3(3914), SPTB(6710), SPTA1(6708), LAMB1(3912), GPI(2821), ELN(2006), LAMC2(3918), NDUFAF3(25915), VPS13A(23230), QDPR(5860), AKR1D1(6718), CD247(919), D2HGDH(728294), LAMA2(3908), LAMA3(3909), PNPO(55163), LBR(3930), GFM1(85476), SPINK1(6690), NFKBIA(4792), TNFSF11(8600), DNAI1(27019), CDC73(79577), L1CAM(3897), FBLN5(10516), NME1(4830), GSN(2934), NPHP3(27031), FREM2(341640), CDH1(999), ADAMTSL2(9719), STAT1(6772), KRAS(3845), PTS(5805), RFXANK(8625), NODAL(4838), SEMA3E(9723), MMACHC(25974), EFNB1(1947), AICDA(57379), SLC34A3(142680), PNP(4860), AGPAT2(10555), PNKD(25953)]
ABNORMALITY OF THE ABDOMINAL WALL(HP:0004298)	[FBN1(2200), PLOD1(5351), ARSB(411), GUSB(2990), ATRX(546), EFEMP2(30008), RPS6KA3(6197), MYH3(4621), CCBE1(147372), TBX3(6926), NSD1(64324), GLRB(2743), VDR(7421), STRA6(64220), GLRA1(2741), H19(283120), PLOD2(5352), FLNA(2316), GLI3(2737), IDS(3423), KCNQ1OT1(10984), GNE(10020), NEU1(4758), GNPTAB(79158), AMH(268), AMHR2(269), GLB1(2720), SALL1(6299), GPC3(2719), ELN(2006), SLC2A10(81031), AFP(174), LRP2(4036), TSHB(7252), GALNS(2588), SLC5A5(6528), B3GALTL(145173), ROR2(4920), LBR(3930), MKS1(54903), CHRNG(1146), MBTPS2(51360), COL1A2(1278), SLC6A5(9152), RAB23(51715), COL1A1(1277), MAN2B1(4125), ADAMTS2(9509), HSPG2(3339), CD96(10225), FGFR1(2260), LOX(4015), CDKN1C(1028), SLC26A2(1836), COL5A2(1290), MED12(9968), GPHN(10243), COL5A1(1289), DGCR(1714), FBLN5(10516), CYP27B1(1594), GPC6(10082), FGD1(2245), WNT3(7473), COL2A1(1280), CBS(875), COL3A1(1281), BSCL2(26580), UBA1(7317), TBX1(6899), PORCN(64840), FTO(79068), HYLS1(219844), SEMA3E(9723), NIPBL(25836), EFNB1(1947), OFD1(8481), FAM123B(139285), ATP6V0A2(23545), AGPAT2(10555), AR(367), CHD7(55636), LEPRE1(64175), PAX8(7849)]
ABNORMALITY OF THE ACETABULUM(HP:0003170)	[FBN1(2200), SMARCAL1(50485), ARSB(411), GUSB(2990), CRTAP(10491), GATA1(2623), FLNB(2317), DCR(1637), TRPV4(59341), AP3B1(8546), MMP2(4313), HOXA11(3207), MATN3(4148), DYM(54808), SLC35D1(23169), COL2A1(1280), COL1A1(1277), GNPTAB(79158), GLB1(2720), CANT1(124583)]
ABNORMALITY OF THE ACHILLES TENDON(HP:0005109)	[HGD(3081), FKRP(79147), MYOT(9499), HRAS(3265), LMNA(4000), LARGE(9215), COL6A2(1292), ALS2(57679), EMD(2010)]
ABNORMALITY OF THE ADRENAL GLANDS(HP:0000834)	[PEX19(5824), RET(5979), PEX5(5830), NSD1(64324), HSD17B4(3295), H19(283120), RBM28(55131), GLI3(2737), HSD11B2(3291), PROP1(5626), KCNQ1OT1(10984), PDE11A(50940), NSDHL(50814), BMP4(652), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), GK(2710), CRH(1392), MKS1(54903), PRKAR1A(5573), NR0B1(190), SLC12A1(6557), GIP(2695), KCNJ10(3766), CYP11A1(1583), SIX3(6496), LHX4(89884), CDKN1C(1028), ZMPSTE24(10269), AIRE(326), AAAS(8086), BSND(7809), KCNJ1(3758), CYP21A2(1589), MEN1(4221), ABCD1(215), CYP17A1(1586), PEX26(55670), CYP11B2(1585), CYP11B1(1584), CLCNKA(1187), STAR(6770), GNAS(2778), CLCNKB(1188), ICK(22858), HYLS1(219844), PCSK1(5122), PEX3(8504), SLC26A3(1811), WNK4(65266), WNK1(65125), LIPA(3988), SCNN1G(6340), TBX19(9095), SCNN1A(6337), SCNN1B(6338)]
ABNORMALITY OF THE AIRWAYS(HP:0002087)	[MYCN(4613), CHAT(1103), MYH3(4621), ANCR(282), NSD1(64324), MAPT(4137), DCTN1(1639), GLI3(2737), EDA(1896), CDKL5(6792), HRAS(3265), CRLF1(9244), MATR3(9782), ECM1(1893), GNPTAB(79158), BAG3(9531), CHRNA1(1134), COLQ(8292), SEPN1(57190), PRKRA(8575), DDR2(4921), RAB3GAP2(25782), GJA1(2697), CHRNE(1145), CHRND(1144), POR(5447), ACTA1(58), RAI1(10743), PTH1R(5745), CHRNB1(1140), DBH(1621), ICOS(29851), GHR(2690), SNRPN(6638), UCHL1(7345), UPF3B(65109), SDHD(6392), ZEB2(9839), RAPSN(5913), SDHC(6391), FGFR1(2260), FGFR3(2261), NBN(4683), MECP2(4204), FGFR2(2263), POLG(5428), SLC26A2(1836), COL4A6(1288), CUL4B(8450), NDN(4692), LEMD3(23592), COL2A1(1280), UBE3A(7337), FTL(2512), VPS13B(157680), SMCR(6600), TBP(6908), TBX1(6899), PORCN(64840), NIPBL(25836), LIFR(3977), SDHAF2(54949), EBP(10682), TRPV4(59341), TAP1(6890), TAP2(6891), CFTR(1080), PANK2(80025), IGHMBP2(3508), HOXD13(3239), FAM123B(139285), TAPBP(6892), SCNN1G(6340), PMP22(5376), AR(367), SMS(6611), SCNN1A(6337), SCNN1B(6338), PAX8(7849), FOXE1(2304), SLC19A2(10560), TBX3(6926), MGP(4256), TCF4(6925), PLP1(5354), FLNA(2316), FLNB(2317), CTNS(1497), IDS(3423), SOX9(6662), DNMT3B(1789), CD8A(925), DNAH11(8701), AGA(175), TSPYL1(7259), TSHB(7252), SRD5A2(6716), BLM(641), LAMA3(3909), LBR(3930), MKS1(54903), ASAH1(427), C20orf54(113278), PLG(5340), THAP1(55145), HSPG2(3339), TRPS1(7227), DNAI1(27019), ATM(472), TNFRSF13B(23495), KRT17(3872), MUSK(4593), MED12(9968), TRIM37(4591), DGCR(1714), GDAP1(54332), TRH(7200), FREM2(341640), SMARCAL1(50485), KRT6B(3854), ADAMTSL2(9719), FRAS1(80144), MFN2(9927), PCNT(5116), HYLS1(219844), TFAP2A(7020), SERPING1(710), GBA(2629), ALPL(249)]
ABNORMALITY OF THE ALTERNATE COMPLEMENT PATHWAY(HP:0005482)	[CFP(5199), CFH(3075)]
ABNORMALITY OF THE ALVEOLAR RIDGES(HP:0006477)	[DHCR24(1718), CD96(10225), DHCR7(1717), GPC3(2719), ARX(170302), GJA1(2697), TBX15(6913), CTSC(1075), EVC2(132884), EVC(2121), GNPTAB(79158)]
ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560)	[ERBB3(2065), MYCN(4613), RET(5979), FOXE1(2304), DMPK(1760), EFEMP2(30008), SETX(23064), HSD17B4(3295), BRAF(673), ACE(1636), REN(5972), MTM1(4534), FLNB(2317), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), ESCO2(157570), FAH(2184), GLE1(2733), SOX9(6662), BUB1B(701), HRAS(3265), FLT4(2324), SLC35D1(23169), PMM2(5373), CHRNA1(1134), UPK3A(7380), PKLR(5313), PKHD1(5314), MRPS22(56945), B3GALTL(145173), INVS(27130), LBR(3930), MKS1(54903), AGTR1(185), CHRNG(1146), SLC12A1(6557), CHRND(1144), POR(5447), ACTA1(58), PTH1R(5745), CPT2(1376), AGT(183), CNTN1(1272), PLEC(5339), ITGA6(3655), RYR1(6261), CD96(10225), ATM(472), RAPSN(5913), FGFR3(2261), LOX(4015), OCRL(4952), ZMPSTE24(10269), SLC26A2(1836), SPINT2(10653), FBLN5(10516), BSND(7809), KCNJ1(3758), COL2A1(1280), NPHP3(27031), NEB(4703), CLCNKA(1187), ALG1(56052), TRIP11(9321), CLCNKB(1188), KRAS(3845), HYLS1(219844), EBP(10682), HADHB(3032), FAM123B(139285), DOK7(285489), GBA(2629), ALPL(249), GBE1(2632), HADHA(3030)]
ABNORMALITY OF THE ANKLES(HP:0003028)	[ZFYVE27(118813), CLCN5(1184), SPG11(80208), KIF5A(3798), GPR56(9289), VDR(7421), REEP1(65055), DPM1(8813), CYP2R1(120227), FLNA(2316), ESCO2(157570), COL6A1(1291), SPG20(23111), MMP2(4313), CYP27B1(1594), COL6A2(1292), SLC34A3(142680), COL6A3(1293), C20orf54(113278)]
ABNORMALITY OF THE ANTERIOR CHAMBER(HP:0000593)	[FBN1(2200), FKRP(79147), FKTN(2218), NDP(4693), LARGE(9215), ADAMTS10(81794), CHST14(113189), LRP5(4041), B3GALTL(145173), JAG1(182), POMT1(10585), POMT2(29954)]
ABNORMALITY OF THE ANTERIOR FONTANELLE(HP:0000236)	[MYCN(4613), FBN1(2200), EP300(2033), ATR(545), RPS6KA3(6197), FGFR1(2260), FGFR2(2263), FLNA(2316), GLI3(2737), MED12(9968), SOX9(6662), UBR1(197131), TBCE(6905), ASPA(443), CRTAP(10491), LRP2(4036), TSHB(7252), SEC23A(10484), B3GALTL(145173), ROR2(4920), ETFDH(2110), ETFB(2109), ETFA(2108), RUNX2(860), FAM123B(139285), ATP6V0A2(23545), MMP2(4313), ARX(170302), CREBBP(1387), COL1A1(1277), CTSK(1513), LEPRE1(64175), ATP7A(538), ADAMTS2(9509)]
ABNORMALITY OF THE ANTERIOR SEGMENT OF THE EYE(HP:0004328)	[FBN1(2200), ADAMTSL4(54507), FBN2(2201), FKRP(79147), DDB2(1643), RET(5979), TINF2(26277), TGFBI(7045), DCR(1637), ABCA1(19), GCM2(9247), SNAI2(6591), ADAMTS10(81794), CTSA(5476), BBS9(27241), GNPTAB(79158), GLB1(2720), GLA(2717), RHO(6010), NOD2(64127), LYST(1130), NTRK1(4914), SEC23A(10484), B3GALTL(145173), GJB2(2706), FKTN(2218), GTF2H5(404672), GJA8(2703), RAB3GAP2(25782), HSF4(3299), GJA1(2697), ACTB(60), MKKS(8195), ZEB2(9839), CYP4V2(285440), FGFR3(2261), OCRL(4952), BCS1L(617), BBS12(166379), POLG(5428), POLH(5429), KCNJ13(3769), COL18A1(80781), FGF10(2255), CECR(1055), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), OAT(4942), DTNBP1(84062), ABHD5(51099), FOXC2(2303), CNBP(7555), RBP4(5950), GNAS(2778), FOXE3(2301), CYP1B1(1545), BBS1(582), FOXC1(2296), BBS2(583), BBS4(585), HPS1(3257), NIPBL(25836), SIX6(4990), BBS10(79738), GNPTG(84572), DMPK(1760), RP2(6102), ERCC2(2068), TRIM32(22954), TBX15(6913), ERCC3(2071), ARL6(84100), GATA1(2623), ERCC6(2074), BUB1B(701), BLOC1S3(388552), GALT(2592), FAM126A(84668), PAH(5053), AGA(175), BCOR(54880), GALNS(2588), DKC1(1736), GALK1(2584), ETFDH(2110), ETFB(2109), BFSP2(8419), ETFA(2108), FOXL2(668), MKS1(54903), GNPAT(8443), RPE65(6121), RECQL4(9401), XPC(7508), ZNF469(84627), OPA3(80207), COL1A1(1277), KIAA1279(26128), JAG1(182), RAB3GAP1(22930), XPA(7507), HPS6(79803), POMT2(29954), GJB6(10804), WHCR(7467), PAX6(5080), WHSC1(7468), ERCC8(1161), FZD4(8322), MVK(4598), CEP290(80184), PAX3(5077), GPHN(10243), TRIM37(4591), DHCR7(1717), DGCR(1714), RAX(30062), WRN(7486), WNT3(7473), TEAD1(7003), PHGDH(26227), ITM2B(9445), SMARCAL1(50485), FRAS1(80144), SHH(6469), BEST1(7439), VLDLR(7436), CHST14(113189), TFAP2A(7020), ALDH3A2(224), VHL(7428), GBA(2629), GUSB(2990), BBS5(129880), TACSTD2(4070), SALL4(57167), ANCR(282), HPS5(11234), CC2D2A(57545), EDN3(1908), EDNRB(1910), IKBKG(8517), ESCO2(157570), IKBKAP(8518), SLC4A11(83959), ALX3(257), CDKL5(6792), GUCY2D(3000), MYH9(4627), PTCH1(5727), STIM1(6786), SC5DL(6309), UQCRB(7381), MYO7A(4647), SLC2A10(81031), PEX10(5192), KIF1B(23095), PTH(5741), PEX14(5195), SAT1(6303), PEX13(5194), LRP2(4036), PEX1(5189), MYOC(4653), PEX7(5191), LRP5(4041), PTEN(5728), UROS(7390), MCOLN1(57192), C10orf2(56652), VSX1(30813), NR2E3(10002), AP3B1(8546), CREBBP(1387), SIL1(64374), RAB23(51715), SUOX(6821), CACNA1F(778), TRAPPC2(6399), HCCS(3052), APOB(338), APOA2(336), CNGB3(54714), SDHD(6392), SDHB(6390), INPP5E(56623), MECP2(4204), COL8A2(1296), COL11A1(1301), APOC2(344), LMX1B(4010), AIRE(326), COL5A2(1290), COL4A6(1288), LPL(4023), COL5A1(1289), PIKFYVE(200576), COL7A1(1294), NDP(4693), IGBP1(3476), COL4A1(1282), APOA1(335), COL2A1(1280), UBE3A(7337), COL3A1(1281), CBS(875), COL4A5(1287), PQBP1(10084), TTC8(123016), PEX26(55670), FTL(2512), POMGNT1(55624), CHST6(4166), SLC37A4(2542), HPS3(84343), G6PC(2538), TBX1(6899), PORCN(64840), PEX3(8504), PLOD3(8985), LIFR(3977), EBP(10682), TAP1(6890), TAP2(6891), TYR(7299), BBS7(55212), CLDN16(10686), TAPBP(6892), ALMS1(7840), UBIAD1(29914), CASR(846), CHD7(55636), PEX19(5824), ABCD3(5825), ARSB(411), PLOD1(5351), EP300(2033), SLC4A4(8671), PEX2(5828), ARSE(415), LDLR(3949), LARGE(9215), PEX5(5830), STS(412), ALDH18A1(5832), FLNB(2317), CTNS(1497), SOX10(6663), MITF(4286), NF1(4763), UQCRQ(27089), AASS(10157), NEU1(4758), POMT1(10585), LAMB2(3913), OSMR(9180), KERA(11081), NF2(4771), LCAT(3931), PLEC(5339), CTDP1(9150), HSPG2(3339), NHS(4810), DNAI1(27019), CRYBA1(1411), CRYAB(1410), GSN(2934), FREM2(341640), MOCS2(4338), PITX3(5309), MOCS1(4337), CRYGD(1421), PITX2(5308), ST14(6768), ALG3(10195), KRT3(3850), VCAN(1462), TP63(8626), SEMA3E(9723), PHYH(5264), MMP2(4313), HPS4(89781), KRT12(3859)]
ABNORMALITY OF THE ANTITRAGUS(HP:0009896)	[RAB3GAP2(25782)]
ABNORMALITY OF THE ANUS(HP:0004378)	[PRSS1(5644), FKRP(79147), MKKS(8195), HCCS(3052), LARGE(9215), GATA1(2623), SALL4(57167), TBX3(6926), NBN(4683), FGFR2(2263), GLI3(2737), DCR(1637), MED12(9968), MID1(4281), CECR(1055), WNT3(7473), FREM2(341640), UBR1(197131), POMT1(10585), PQBP1(10084), PITX2(5308), FRAS1(80144), SALL1(6299), PORCN(64840), PTEN(5728), UPB1(51733), SEMA3E(9723), MKS1(54903), DPYS(1807), FKTN(2218), HOXD13(3239), FAM123B(139285), RECQL4(9401), MNX1(3110), CHD7(55636), POMT2(29954)]
ABNORMALITY OF THE AORTIC VALVE(HP:0001646)	[FBN1(2200), FBN2(2201), TGFBR2(7048), EFEMP2(30008), TGFBR1(7046), LOX(4015), PTPN11(5781), HGD(3081), MYH11(4629), ESCO2(157570), FBLN5(10516), MYH7(4625), ADAMTS10(81794), NPHP3(27031), GNPTAB(79158), GLB1(2720), ADAMTSL2(9719), ELN(2006), SLC2A10(81031), CAV3(859), D2HGDH(728294), MYLK2(85366), VWF(7450), SLC25A4(291), GBA(2629), COL1A2(1278), GNPTG(84572), NOTCH1(4851)]
ABNORMALITY OF THE ATRIAL SEPTUM(HP:0001630)	[EP300(2033), FBN2(2201), VPS33B(26276), TGFBR2(7048), TGFBR1(7046), CCBE1(147372), SALL4(57167), NSD1(64324), STRA6(64220), BRAF(673), FLNB(2317), MAP2K1(5604), ESCO2(157570), MAP2K2(5605), HRAS(3265), NF1(4763), UBR1(197131), NKX2-5(1482), BCOR(54880), B3GALTL(145173), SLC29A3(55315), GJA1(2697), CREBBP(1387), CRELD1(78987), RAB23(51715), JAG1(182), WHCR(7467), CD96(10225), HCCS(3052), WHSC1(7468), ZEB2(9839), FGFR1(2260), EVC2(132884), ATIC(471), FGFR2(2263), TSFM(10102), ZMPSTE24(10269), PTPN11(5781), MED12(9968), DHCR7(1717), SOS1(6654), GPC6(10082), NPHP3(27031), EVC(2121), PQBP1(10084), SMN1(6606), TBX5(6910), FOXC1(2296), KRAS(3845), NODAL(4838), SEMA3E(9723), FAM123B(139285), RPS19(6223), G6PC3(92579), CHD7(55636)]
ABNORMALITY OF THE ATRIOVENTRICULAR VALVES(HP:0006705)	[FBN1(2200), FBN2(2201), TGFBR2(7048), RPS6KA3(6197), TGFBR1(7046), POLG(5428), FLNA(2316), COL5A2(1290), PTPN11(5781), HGD(3081), COL5A1(1289), SOS1(6654), HRAS(3265), FBLN5(10516), ADAMTS10(81794), COL2A1(1280), CBS(875), COL3A1(1281), FMR1(2332), ADAMTSL2(9719), VPS13B(157680), ELN(2006), AGA(175), TNXB(7148), ABCC6(368), BCOR(54880), SLC29A3(55315), VWF(7450), GJA1(2697), GBA(2629), COL1A2(1278), ZNF469(84627), COL1A1(1277), G6PC3(92579)]
ABNORMALITY OF THE AUTONOMIC NERVOUS SYSTEM(HP:0002270)	[PRNP(5621), SNCA(6622), GLA(2717), AAAS(8086), SOX10(6663), TTR(7276), LMNB1(4001), ATXN3(4287), NTRK1(4914), LIFR(3977), EDNRB(1910)]
ABNORMALITY OF THE AXIAL SKELETON(HP:0009121)	[FBN1(2200), FBN2(2201), FKRP(79147), HIBCH(26275), VPS33B(26276), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), EDARADD(128178), SLC16A2(6567), SLC35C1(55343), KCNQ1OT1(10984), ABAT(18), HRAS(3265), FANCD2(2177), DOLK(22845), FANCC(2176), PPIB(5479), MATR3(9782), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), ACADS(35), ACADSB(36), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), C20orf7(79133), MPZ(4359), CHRNG(1146), MPV17(4358), POU1F1(5449), CHRNE(1145), CHRND(1144), POR(5447), ACTA1(58), PUS1(80324), TNFRSF11A(8792), ACTB(60), SNRPN(6638), UPF3B(65109), FH(2271), ZEB2(9839), LHX4(89884), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN1C(1028), POLH(5429), FGF10(2255), SOS1(6654), FGF3(2248), HSPB8(26353), CECR(1055), FGD1(2245), ASPM(259266), EDAR(10913), GDF6(392255), ACVR1(90), PTRF(284119), FOXC2(2303), ADA(100), HPGD(3248), SMCR(6600), ICK(22858), NDUFA11(126328), TRPV4(59341), HOXD13(3239), CUL7(9820), GNPTG(84572), SPRED1(161742), PMP22(5376), SMS(6611), TUBB2B(347733), FHL1(2273), ERBB3(2065), ERCC2(2068), TRIM32(22954), ERCC3(2071), SGCB(6443), PRPS1(5631), ROBO3(64221), SGCA(6442), STRA6(64220), ERCC6(2074), SGCG(6445), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), MTHFR(4524), ZIC1(7545), MAPK10(5602), ADSL(158), FAM126A(84668), PRKCSH(5589), AGA(175), AFP(174), MTMR2(8898), FGD4(121512), WT1(7490), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), PRKAR1A(5573), COL1A2(1278), ZNF469(84627), ACAN(176), COL1A1(1277), KIAA1279(26128), JAG1(182), AGT(183), RAB3GAP1(22930), XPA(7507), CNTN1(1272), EXT2(2132), WHCR(7467), SQSTM1(8878), WHSC1(7468), SIX3(6496), EXT1(2131), ERCC8(1161), MVK(4598), CEP290(80184), EYA1(2138), EIF2B2(8892), MED12(9968), EIF2B5(8893), HGD(3081), PPT1(5538), TRIM37(4591), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), WNT3(7473), GDAP1(54332), HEXB(3074), WNT7A(7476), EVC(2121), PHGDH(26227), NOP10(55505), SMARCAL1(50485), CLCN7(1186), FRAS1(80144), SHH(6469), MFN2(9927), FANCA(2175), WISP3(8838), TSEN54(283989), SLC39A13(91252), ALDOA(226), SHOX(6473), ALDH3A2(224), COX4I2(84701), WAS(7454), GORAB(92344), ALPL(249), MNX1(3110), LEPRE1(64175), VCP(7415), BIN1(274), ANCR(282), NSD1(64324), MAPT(4137), VDR(7421), ESCO2(157570), ALX3(257), MATN3(4148), PAPSS2(9060), GNE(10020), IHH(3549), SC5DL(6309), SALL1(6299), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), RAB39B(116442), PEX13(5194), AIP(9049), PEX1(5189), PEX7(5191), UROS(7390), IL2RG(3561), C10orf2(56652), SLC17A5(26503), SEC63(11231), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), MAN2B1(4125), TRAPPC2(6399), PDHA1(5160), COMP(1311), ENPP1(5167), NHP2(55651), COL9A1(1297), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), COL6A1(1291), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), COL2A1(1280), IGF1R(3480), FUCA1(2517), UBE3A(7337), PQBP1(10084), TTC8(123016), PEX26(55670), POMGNT1(55624), VPS13B(157680), UBA1(7317), ABCC6(368), TXNDC3(51314), PLOD3(8985), IGHMBP2(3508), GAA(2548), AR(367), ATPAF2(91647), CHD7(55636), ARSB(411), PLOD1(5351), ARSE(415), TWIST1(7291), LARGE(9215), RPS6KA3(6197), SERPINF2(5345), MGP(4256), BRWD3(254065), PLP1(5354), FLNA(2316), PLOD2(5352), FLNB(2317), CTNS(1497), IDS(3423), MID1(4281), PMM2(5373), NKX2-5(1482), FMR1(2332), AP4M1(9179), ASPA(443), LRPPRC(10128), TSHB(7252), SP110(3431), CFI(3426), CTSD(1509), ARX(170302), MBTPS2(51360), PLG(5340), CTSK(1513), MGAT2(4247), CTDP1(9150), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), ATM(472), ATIC(471), HSPD1(3329), MMP13(4322), FXN(2395), PITX2(5308), ALG3(10195), PHEX(5251), CDK5RAP2(55755), FTO(79068), HYLS1(219844), CSF3R(1441), MMP2(4313), TPM2(7169), RPS19(6223), TPM3(7170), G6PC3(92579), SH3TC2(79628), RET(5979), CENPJ(55835), ATRX(546), NPR2(4882), TGFBR2(7048), ATR(545), TGFBR1(7046), ACE(1636), REN(5972), TGFB1(7040), DCR(1637), GLI3(2737), GLE1(2733), NOG(9241), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), EMG1(10436), GLB1(2720), SBF2(81846), COLQ(8292), GPC3(2719), DYNC2H1(79659), KIF5A(3798), CRTAP(10491), SEC23A(10484), ROR2(4920), DDR2(4921), MCPH1(79648), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), GJA1(2697), VANGL1(81839), ATP7A(538), KCNJ11(3767), MKKS(8195), RAPSN(5913), OCRL(4952), COL18A1(80781), AAAS(8086), GNS(2799), CYP27B1(1594), SBDS(51119), RAG2(5897), TNFRSF1A(7132), RAG1(5896), KCNJ2(3759), KCNJ1(3758), CYP21A2(1589), GNAS(2778), TRIP11(9321), TNFRSF11B(4982), BBS1(582), OPHN1(4983), BBS2(583), TNNI2(7136), BBS4(585), TNNT1(7138), NDUFAF4(29078), TNNT3(7140), NIPBL(25836), BBS10(79738), ZFPM2(23414), TMEM70(54968), KDM5C(8242), SNAP29(9342), FAM123B(139285), DOK7(285489), PLA2G6(8398), SLC25A22(79751), ATL1(51062), EFEMP2(30008), TBX15(6913), ZIC4(84107), ARL6(84100), GATA1(2623), TBX3(6926), TCF4(6925), BRAF(673), B4GALT7(11285), GARS(2617), BUB1B(701), ALS2(57679), TREX1(11277), BTK(695), LHX3(8022), TCIRG1(10312), DNMT3B(1789), TCOF1(6949), PAH(5053), BMP4(652), PAFAH1B1(5048), DLAT(1737), DKC1(1736), GALNS(2588), PSAT1(29968), BLM(641), PRX(57716), MKS1(54903), DLX3(1747), GNPAT(8443), C20orf54(113278), RECQL4(9401), PDHX(8050), DMD(1756), DMP1(1758), GAD1(2571), POMT2(29954), EHMT1(79813), B4GALT1(2683), TNFRSF13B(23495), PAX3(5077), ZMPSTE24(10269), INS(3630), DHCR24(1718), RMRP(6023), DGUOK(1716), CA2(760), DHCR7(1717), GDF1(2657), DGCR(1714), FAM20C(56975), DYM(54808), SH3PXD2B(285590), CYB5R3(1727), GFAP(2670), PAK3(5063), HGSNAT(138050), ALG1(56052), GCK(2645), CLCF1(23529), PCNT(5116), SOST(50964), CHST14(113189), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), CHST3(9469), APTX(54840), GCDH(2639), MYCN(4613), TBX4(9496), MYOT(9499), GUSB(2990), BBS5(129880), SETX(23064), SALL4(57167), MYH3(4621), CAPN3(825), EDA(1896), IKBKG(8517), IKBKAP(8518), PDE11A(50940), CDKL5(6792), MYH7(4625), MYH8(4626), PTCH1(5727), IFT80(57560), CANT1(124583), BAG3(9531), SEPN1(57190), LRP2(4036), LRP5(4041), PTEN(5728), UPB1(51733), MCOLN1(57192), ABCC8(6833), AP3B1(8546), RAI1(10743), RAB23(51715), NAGLU(4669), PTH1R(5745), ICOS(29851), ADAMTS2(9509), TOR1A(1861), HCCS(3052), LMNA(4000), EVC2(132884), LOX(4015), NBN(4683), CYP2R1(120227), LMX1B(4010), PRPS2(5634), SLC26A2(1836), SPG20(23111), CUL4B(8450), NDN(4692), PHF6(84295), NDUFA1(4694), CBS(875), SYN1(6853), RELN(5649), NEB(4703), ALX4(60529), ANKH(56172), TUBA8(51807), TBCE(6905), TBX5(6910), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), LIFR(3977), RUNX2(860), EBP(10682), TAP1(6890), DPYD(1806), TUBA1A(7846), TAP2(6891), DPYS(1807), NDUFV1(4723), DLL3(10683), NDUFS2(4720), OFD1(8481), BBS7(55212), NDUFS6(4726), TAPBP(6892), NDUFS4(4724), ALMS1(7840), MOGS(7841), DPAGT1(1798), CASR(846), HSD17B10(3028), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), PEX5(5830), PYCR1(5831), ALDH18A1(5832), SPG7(6687), NDUFAF2(91942), RBM28(55131), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NF1(4763), NSDHL(50814), SLC35D1(23169), ANO5(203859), POMT1(10585), PLEKHG5(57449), LAMB1(3912), NDUFAF3(25915), QDPR(5860), EMD(2010), D2HGDH(728294), NF2(4771), LAMA2(3908), PNPO(55163), LBR(3930), MLC1(23209), GFM1(85476), NFKBIA(4792), SPR(6697), TNFSF11(8600), ZBTB16(7704), DNAI1(27019), PTPN11(5781), EGR2(1959), L1CAM(3897), FBLN5(10516), NME1(4830), EIF2B1(1967), FREM2(341640), RNASET2(8635), ADAMTSL2(9719), STAT3(6774), TP63(8626), KRAS(3845), PTS(5805), SEMA3E(9723), EFNB1(1947), MMACHC(25974), PNP(4860), SLC34A3(142680)]
ABNORMALITY OF THE BASAL GANGLIA(HP:0002134)	[PRNP(5621), TK2(7084), GNAS(2778), SUCLA2(8803), PDHA1(5160), ERCC3(2071), ATR(545), ERCC8(1161), ERCC6(2074), MUT(4594), CA2(760), PANK2(80025), GJA1(2697), GFM1(85476), PDE8B(8622), TREM2(54209), TREX1(11277), SLC46A1(113235), TYROBP(7305), FOXP2(93986), ETHE1(23474), CPT2(1376), FTL(2512)]
ABNORMALITY OF THE BILIARY SYSTEM(HP:0004297)	[CPOX(1371), LYZ(4069), BBS5(129880), VPS33B(26276), CLDN1(9076), HSD17B4(3295), ANK1(286), ESCO2(157570), ABCB4(5244), STK11(6794), NPC1(4864), RPGRIP1L(23322), BBS9(27241), SC5DL(6309), UQCRB(7381), FECH(2235), LYST(1130), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), B3GALTL(145173), UROS(7390), RHAG(6005), SEC23B(10483), C10orf2(56652), RFX5(5993), PFKM(5213), RFXAP(5994), MPV17(4358), POU1F1(5449), ATP8B1(5205), MKKS(8195), HBB(3043), BCS1L(617), POLG(5428), BBS12(166379), AMACR(23600), AIRE(326), LPL(4023), CECR(1055), APOA1(335), TTC8(123016), FGA(2243), PEX26(55670), G6PD(2539), BBS1(582), BBS2(583), TBX1(6899), BBS4(585), PEX3(8504), BBS10(79738), CFTR(1080), BBS7(55212), HBA1(3039), TPI1(7167), HSD3B7(80270), CDAN1(146059), UGT1A1(54658), SMPD1(6609), ARSA(410), PIGM(93183), PEX19(5824), ABCD3(5825), SLC25A13(10165), DMPK(1760), PEX2(5828), TRIM32(22954), PEX5(5830), ARL6(84100), CIITA(4261), NPC2(10577), TMEM67(91147), TREX1(11277), ABCC2(1244), UQCRQ(27089), ABCB11(8647), SPTB(6710), TRMU(55687), SPTA1(6708), GALE(2582), GPI(2821), PKLR(5313), PKHD1(5314), AKR1D1(6718), GALK1(2584), ETFDH(2110), ETFB(2109), ETFA(2108), MKS1(54903), BPGM(669), LBR(3930), ADAMTS13(11093), GFM1(85476), JAG1(182), WHCR(7467), HK1(3098), INSR(3643), WHSC1(7468), CEP290(80184), DGUOK(1716), DHCR7(1717), DGCR(1714), NPHP3(27031), SLC4A1(6521), ALDOB(229), RFXANK(8625), PHKG2(5261), ALDOA(226), COX4I2(84701), GBE1(2632)]
ABNORMALITY OF THE BLADDER(HP:0000014)	[PRNP(5621), ARSA(410), PLOD1(5351), CLDN19(149461), ATL1(51062), AUH(549), ATRX(546), EFEMP2(30008), SACS(26278), SALL4(57167), CCBE1(147372), SPG7(6687), AVPR2(554), KIAA0196(9897), REEP1(65055), SPAST(6683), CIITA(4261), ATXN3(4287), HMBS(3145), ALS2(57679), ATXN1(6310), ATXN2(6311), NIPA1(123606), SALL1(6299), SPG11(80208), KIF5A(3798), UPB1(51733), CFI(3426), RFX5(5993), MKS1(54903), SLC9A6(10479), RFXAP(5994), VANGL1(81839), POR(5447), DBH(1621), ATP7A(538), KCNJ10(3766), MKKS(8195), ZFYVE26(23503), CD96(10225), WFS1(7466), LOX(4015), NBN(4683), HSPD1(3329), CYP7B1(9420), EYA1(2138), PAX2(5076), FAM134B(54463), PSAP(5660), PINK1(65018), ATXN10(25814), FBLN5(10516), TREM2(54209), HOXA13(3209), SLC5A2(6524), HEXB(3074), NPHP3(27031), ABCD1(215), CHMP2B(25978), TBP(6908), TP63(8626), RFXANK(8625), NIPBL(25836), AQP2(359), PANK2(80025), IGHMBP2(3508), HOXD13(3239), CLDN16(10686), TYROBP(7305), MNX1(3110), NOTCH3(4854)]
ABNORMALITY OF THE BRAINSTEM(HP:0002363)	[ARSA(410), CHAT(1103), SQSTM1(8878), LARGE(9215), GPR56(9289), RAPSN(5913), MYH3(4621), FGFR3(2261), INPP5E(56623), GSN(2934), GFAP(2670), ATXN1(6310), NEB(4703), CHRNA1(1134), TUBA8(51807), TMEM216(51259), PAFAH1B1(5048), DES(1674), TUBA1A(7846), NDUFV1(4723), PANK2(80025), GBA(2629), DOK7(285489), CHRNE(1145), CHRND(1144), C20orf54(113278), ACTA1(58), AGRN(375790), VRK1(7443), AR(367), TNFRSF11A(8792)]
ABNORMALITY OF THE BREASTS(HP:0000769)	[TWIST1(7291), NSD1(64324), HSD17B3(3293), TBX3(6926), ERCC6(2074), CTNNB1(1499), RBM28(55131), EDA(1896), IKBKG(8517), BRIP1(83990), SLC22A18(5002), STK11(6794), GNE(10020), PMM2(5373), UBR1(197131), GNPTAB(79158), GPC3(2719), AIP(9049), TIMP2(7077), B3GALTL(145173), PTEN(5728), SLC29A3(55315), FOXL2(668), ACOX1(51), RAB3GAP2(25782), CHRNG(1146), RAD54L(8438), KIAA1279(26128), CPT2(1376), SRY(6736), AKT1(207), CD96(10225), INSR(3643), ZEB2(9839), PIK3CA(5290), FGFR2(2263), CDKN2A(1029), PTPN11(5781), CUL4B(8450), APC(324), SOS1(6654), PHF6(84295), PARK2(5071), CYP21A2(1589), CYP19A1(1588), FREM2(341640), CYP17A1(1586), FRAS1(80144), MSH2(4436), KAL1(3730), TP63(8626), MLH1(4292), ICK(22858), PORCN(64840), KRAS(3845), SEMA3E(9723), NIPBL(25836), EFNB1(1947), TFAP2A(7020), SSTR5(6755), OFD1(8481), FAM123B(139285), RB1CC1(9821), ALMS1(7840), CHST3(9469), AR(367), SMS(6611), TP53(7157), CHD7(55636), PPM1D(8493)]
ABNORMALITY OF THE BRONCHI(HP:0002109)	[DNAH11(8701), CD8A(925), ATM(472), DNAI1(27019), FGFR1(2260), TNFRSF13B(23495), NBN(4683), FGFR2(2263), BLM(641), FLNB(2317), TAP1(6890), IDS(3423), TAP2(6891), SOX9(6662), CFTR(1080), HRAS(3265), TAPBP(6892), SCNN1G(6340), POR(5447), ICOS(29851), SCNN1A(6337), SCNN1B(6338), DNMT3B(1789)]
ABNORMALITY OF THE CALCANEUS(HP:0008364)	[LBR(3930), HOXD10(3236), TNNI2(7136), MYH3(4621), TPM2(7169), COL1A2(1278), NSD1(64324), TNNT3(7140), FLNA(2316), FLNB(2317)]
ABNORMALITY OF THE CALF MUSCULATURE(HP:0001430)	[FKRP(79147), FBN2(2201), TRIM32(22954), CAV3(859), SGCA(6442), SGCG(6445), DES(1674), MYH7(4625), TTN(7273), AR(367), TCAP(8557), ANO5(203859), DMD(1756)]
ABNORMALITY OF THE CALVARIUM(HP:0002683)	[MYCN(4613), FBN1(2200), TGFBR2(7048), ATR(545), CCBE1(147372), TGFBR1(7046), NSD1(64324), VDR(7421), HSD17B4(3295), H19(283120), ACE(1636), REN(5972), GLI3(2737), KCNQ1OT1(10984), ESCO2(157570), PPIB(5479), UBR1(197131), GNPTAB(79158), PEX10(5192), PEX14(5195), LRP2(4036), CRTAP(10491), PEX13(5194), SEC23A(10484), PEX1(5189), LRP5(4041), PTEN(5728), B3GALTL(145173), ROR2(4920), ABCC8(6833), MCPH1(79648), GJA1(2697), POU1F1(5449), SLC17A5(26503), CREBBP(1387), POR(5447), RAB23(51715), NAGLU(4669), MAN2B1(4125), ATP7A(538), ADAMTS2(9509), KCNJ11(3767), LMNA(4000), FGFR1(2260), FGFR3(2261), FGFR2(2263), CDKN1C(1028), COL11A1(1301), CYP2R1(120227), PHF6(84295), CYP27B1(1594), PEX26(55670), ALX4(60529), TBCE(6905), GNAS(2778), HPGD(3248), TNFRSF11B(4982), PEX3(8504), RUNX2(860), HOXD13(3239), FAM123B(139285), ALMS1(7840), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), TWIST1(7291), PEX5(5830), PYCR1(5831), RPS6KA3(6197), ERCC6(2074), FLNA(2316), PLOD2(5352), SGSH(6448), SOX9(6662), ADSL(158), BMP4(652), ASPA(443), AGA(175), TSHB(7252), ETFDH(2110), ETFB(2109), ETFA(2108), CTSD(1509), MSX2(4488), AGTR1(185), ARX(170302), GNPAT(8443), COL1A2(1278), RECQL4(9401), COL1A1(1277), CTSK(1513), AGT(183), DMP1(1758), TNFSF11(8600), ERCC8(1161), MVK(4598), ZMPSTE24(10269), INS(3630), MED12(9968), PTPN11(5781), CA2(760), DYM(54808), SH3PXD2B(285590), HGSNAT(138050), ALG1(56052), GCK(2645), STAT3(6774), SOST(50964), CHST14(113189), EFNB1(1947), CSF3R(1441), COX4I2(84701), ATP6V0A2(23545), MMP2(4313), GORAB(92344), ALPL(249), SLC34A3(142680), RPS19(6223), LEPRE1(64175)]
ABNORMALITY OF THE CALVES(HP:0002981)	[FKRP(79147), FBN2(2201), TRIM32(22954), TBX15(6913), ATR(545), LMBR1(64327), VDR(7421), GDF5(8200), SGCA(6442), MMP13(4322), SGCG(6445), COL11A1(1301), FLNA(2316), CYP2R1(120227), FLNB(2317), SOX9(6662), CYP27B1(1594), MYH7(4625), NF1(4763), PAPSS2(9060), TTN(7273), GPC6(10082), IHH(3549), ANO5(203859), WNT7A(7476), CANT1(124583), CLCN5(1184), PHEX(5251), PCNT(5116), CAV3(859), HYLS1(219844), DDR2(4921), SHOX(6473), LIFR(3977), DES(1674), MIPOL1(145282), FAM123B(139285), SLC34A3(142680), COL1A1(1277), AR(367), TCAP(8557), DMD(1756), BMPR1B(658), LEPRE1(64175)]
ABNORMALITY OF THE CAPITATE BONE(HP:0004262)	[FGFR3(2261), EVC2(132884), EVC(2121), ATP7A(538)]
ABNORMALITY OF THE CARDIAC ATRIA(HP:0005120)	[EP300(2033), FBN2(2201), VPS33B(26276), TGFBR2(7048), TGFBR1(7046), CCBE1(147372), SALL4(57167), NSD1(64324), STRA6(64220), BRAF(673), FLNB(2317), MAP2K1(5604), MAP2K2(5605), ESCO2(157570), HRAS(3265), NF1(4763), UBR1(197131), NKX2-5(1482), SMAD9(4093), BCOR(54880), EMD(2010), B3GALTL(145173), SLC29A3(55315), GJA1(2697), CREBBP(1387), CRELD1(78987), RAB23(51715), JAG1(182), BMPR2(659), WHCR(7467), CD96(10225), HCCS(3052), WHSC1(7468), ZEB2(9839), FGFR1(2260), EVC2(132884), ATIC(471), FGFR2(2263), TSFM(10102), ZMPSTE24(10269), PTPN11(5781), MED12(9968), DHCR7(1717), SOS1(6654), GPC6(10082), NPHP3(27031), EVC(2121), PQBP1(10084), SMN1(6606), TBX5(6910), FOXC1(2296), KRAS(3845), NODAL(4838), SEMA3E(9723), FAM123B(139285), RPS19(6223), G6PC3(92579), CHD7(55636)]
ABNORMALITY OF THE CARDIAC SEPTA(HP:0001671)	[FBN1(2200), FBN2(2201), ATRX(546), VPS33B(26276), TGFBR2(7048), TGFBR1(7046), CCBE1(147372), SALL4(57167), NSD1(64324), DCR(1637), GLI3(2737), SLC22A5(6584), ESCO2(157570), HRAS(3265), MYH7(4625), ADAMTS10(81794), UBR1(197131), GLA(2717), SALL1(6299), GPC3(2719), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), LRP5(4041), B3GALTL(145173), ROR2(4920), MYLK2(85366), SLC29A3(55315), SLC25A4(291), GJA1(2697), CREBBP(1387), NAGLU(4669), RAB23(51715), HCCS(3052), ZEB2(9839), FGFR1(2260), EVC2(132884), FGFR2(2263), TSFM(10102), SOS1(6654), GNS(2799), GPC6(10082), PEX26(55670), PQBP1(10084), SMN1(6606), FOXC2(2303), TBX5(6910), FOXC1(2296), TBX1(6899), CAV3(859), PEX3(8504), NIPBL(25836), HOXD13(3239), FAM123B(139285), CHD7(55636), ERBB3(2065), PEX19(5824), EP300(2033), SLC19A2(10560), PEX5(5830), GATA1(2623), MGP(4256), STRA6(64220), BRAF(673), FLNB(2317), SGSH(6448), MAP2K1(5604), MAP2K2(5605), SOX2(6657), NF1(4763), ZIC3(7547), NKX2-5(1482), BCOR(54880), MKS1(54903), LBR(3930), CRELD1(78987), JAG1(182), MGAT2(4247), WHCR(7467), CD96(10225), WHSC1(7468), ATIC(471), PRKAG2(51422), ZMPSTE24(10269), PTPN11(5781), MED12(9968), DHCR7(1717), DGCR(1714), NPHP3(27031), EVC(2121), HGSNAT(138050), TP63(8626), FTO(79068), KRAS(3845), HYLS1(219844), NODAL(4838), SEMA3E(9723), CHST3(9469), RPS19(6223), G6PC3(92579)]
ABNORMALITY OF THE CARDIAC VENTRICLE(HP:0001713)	[FBN1(2200), FBN2(2201), FKRP(79147), ATRX(546), BBS5(129880), VPS33B(26276), CCBE1(147372), SALL4(57167), NSD1(64324), GLI3(2737), ESCO2(157570), ABCA1(19), HRAS(3265), ADAMTS10(81794), UBR1(197131), BBS9(27241), SMAD9(4093), GLA(2717), SALL1(6299), SLC25A20(788), GPC3(2719), SLC2A10(81031), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), AIP(9049), PEX1(5189), LRP5(4041), B3GALTL(145173), ROR2(4920), SLC29A3(55315), GJA1(2697), CREBBP(1387), RAB23(51715), MKKS(8195), HCCS(3052), ZEB2(9839), FGFR2(2263), BBS12(166379), SOS1(6654), GPC6(10082), TTC8(123016), PEX26(55670), PQBP1(10084), SMN1(6606), FOXC2(2303), TBX5(6910), BBS1(582), BBS2(583), TBX1(6899), BBS4(585), PEX3(8504), NIPBL(25836), BBS10(79738), CFTR(1080), BBS7(55212), HOXD13(3239), FAM123B(139285), CHD7(55636), ERBB3(2065), PEX19(5824), EP300(2033), TRIM32(22954), PEX5(5830), ARL6(84100), MGP(4256), STRA6(64220), SGCG(6445), FLNA(2316), FLNB(2317), TTR(7276), SOX2(6657), ZIC3(7547), BTK(695), PKP2(5318), BCOR(54880), MKS1(54903), LBR(3930), CRELD1(78987), AGL(178), JAG1(182), MGAT2(4247), BMPR2(659), RYR2(6262), WHCR(7467), CD96(10225), WHSC1(7468), CEP290(80184), PTPN11(5781), MED12(9968), DHCR7(1717), DGCR(1714), TP63(8626), FTO(79068), HYLS1(219844), NODAL(4838), SEMA3E(9723), SSTR5(6755), CHST3(9469), RPS19(6223)]
ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626)	[FBN1(2200), FBN2(2201), FKRP(79147), HIBCH(26275), FBP1(2203), VPS33B(26276), PPOX(5498), CCBE1(147372), H19(283120), DPM1(8813), DNAJC19(131118), HSD11B2(3291), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), ABCA1(19), HRAS(3265), FANCD2(2177), FANCC(2176), CTSA(5476), DOLK(22845), FANCE(2178), UBR1(197131), HRG(3273), BBS9(27241), GNPTAB(79158), CHRNA1(1134), ACADS(35), PPARG(5468), ACADL(33), ACADVL(37), B3GALTL(145173), SLC29A3(55315), FKTN(2218), MPL(4352), C20orf7(79133), SLC12A3(6559), CHRNG(1146), SLC12A1(6557), CHRND(1144), ACTA1(58), ACTC1(70), ZEB2(9839), FGFR1(2260), FGFR2(2263), BBS12(166379), CDKN1C(1028), POLG(5428), KCTD7(154881), SOS1(6654), CECR(1055), PNMT(5409), ACVRL1(94), FGA(2243), PTRF(284119), SMN1(6606), CNBP(7555), FOXC2(2303), HPGD(3248), CETP(1071), SMCR(6600), FOXC1(2296), SFTPA2(729238), FOXF1(2294), NDUFA11(126328), HPS1(3257), WNK1(65125), SNCA(6622), CFTR(1080), HOXD13(3239), FASTKD2(22868), GNPTG(84572), FHL1(2273), ERBB3(2065), TRIM32(22954), SFTPB(6439), PHOX2B(8929), SGCB(6443), PRPS1(5631), STRA6(64220), ERCC6(2074), SGCG(6445), PROC(5624), PROS1(5627), MAP2K1(5604), SGSH(6448), MAP2K2(5605), BLOC1S3(388552), HMBS(3145), ZIC3(7547), PRKCSH(5589), AGA(175), ABCG8(64241), ABCG5(64240), WT1(7490), VMA21(203547), AGTR1(185), PRKAR1A(5573), AHCY(191), AGXT(189), COL1A2(1278), AGL(178), ZNF469(84627), COL1A1(1277), JAG1(182), AGT(183), MYBPC3(4607), WHCR(7467), WFS1(7466), WHSC1(7468), ERCC8(1161), CEP290(80184), MUT(4594), MED12(9968), HGD(3081), TRIM37(4591), SLC17A3(10786), WRN(7486), WNT3(7473), HEXB(3074), CFH(3075), HFE(3077), EVC(2121), SMARCAL1(50485), FRAS1(80144), BEST1(7439), CLCNKB(1188), FANCA(2175), VHL(7428), WNK4(65266), PPP1R3A(5506), VWF(7450), WAS(7454), SCN5A(6331), CPT1A(1374), CPOX(1371), SCN9A(6335), NSD1(64324), HPS5(11234), POLG2(11232), ANK2(287), ESCO2(157570), ALX3(257), HCN4(10021), UQCRB(7381), UPK3A(7380), SALL1(6299), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), AIP(9049), PEX1(5189), PEX7(5191), DCAF17(80067), C10orf2(56652), SCO2(9997), SLC25A4(291), KCNE2(9992), SLC17A5(26503), SEC63(11231), CREBBP(1387), CPT2(1376), MANBA(4126), ENPP1(5167), APOB(338), SDHD(6392), APOA2(336), APP(351), SDHC(6391), SDHB(6390), SDHA(6389), APOE(348), MECP2(4204), TSFM(10102), PDGFRA(5156), COL5A2(1290), COL6A1(1291), COL5A1(1289), MEFV(4210), COL6A2(1292), COL6A3(1293), GPC6(10082), COL4A1(1282), APOA1(335), COL2A1(1280), FUCA1(2517), COL3A1(1281), COL4A5(1287), PQBP1(10084), TTC8(123016), PEX26(55670), BSCL2(26580), SLC37A4(2542), VPS13B(157680), COX6B1(1340), ABCC6(368), G6PC(2538), PLOD3(8985), FAS(355), SCNN1G(6340), GAA(2548), ATPAF2(91647), SCNN1B(6338), CHD7(55636), LDB3(11155), ARSB(411), PLOD1(5351), TWIST1(7291), RPS6KA3(6197), MGP(4256), FLNA(2316), FLNB(2317), IDS(3423), MID1(4281), TTR(7276), TTN(7273), FLT4(2324), PMM2(5373), FMO3(2328), FN1(2335), NKX2-5(1482), FMR1(2332), PKP2(5318), PKHD1(5314), TSPYL1(7259), TSHR(7253), PLAT(5327), SP110(3431), TSC1(7248), TSC2(7249), CFI(3426), ASCL1(429), CRELD1(78987), PLG(5340), MGAT2(4247), RYR2(6262), CD96(10225), ATIC(471), PRKAG2(51422), MPI(4351), SERPINC1(462), CRYAB(1410), PRPF3(9129), PRG4(10216), PKD2(5311), FXN(2395), PKD1(5310), FTO(79068), HYLS1(219844), PHYH(5264), HPS4(89781), TPM1(7168), RPS19(6223), G6PC3(92579), RET(5979), ATRX(546), TGFBR2(7048), DDC(1644), TGFBR1(7046), AVPR2(554), TGFB3(7043), ACE(1636), REN(5972), GLI3(2737), DCR(1637), THRB(7068), NPHP1(4867), THPO(7066), ADAMTS10(81794), NPPA(4878), GLB1(2720), GLA(2717), GPC3(2719), NTRK1(4914), MRPS22(56945), CRTAP(10491), ROR2(4920), RAB3GAP2(25782), GJA5(2702), GJA1(2697), KCNQ1(3784), DBH(1621), ATP7A(538), KCNJ10(3766), MKKS(8195), BCS1L(617), FGF23(8074), BDNF(627), AAAS(8086), GNS(2799), SBDS(51119), CYP27A1(1593), KCNJ2(3759), KCNJ1(3758), CYP21A2(1589), KCNH2(3757), CYP17A1(1586), KCNE1(3753), CYP11B2(1585), DTNBP1(84062), CYP11B1(1584), TNXB(7148), JUP(3728), BBS1(582), BBS2(583), TNNI3(7137), BBS4(585), GNAI2(2771), NDUFAF4(29078), TNNT2(7139), NIPBL(25836), JAK2(3717), BBS10(79738), CCND1(595), ZFPM2(23414), TMEM70(54968), FAM123B(139285), TPI1(7167), SDHAF1(644096), MLYCD(23417), DMPK(1760), EFEMP2(30008), ARL6(84100), GATA1(2623), BRAF(673), TREX1(11277), KL(9365), BTK(695), TCOF1(6949), BCOR(54880), GALNS(2588), GALNT3(2591), CFC1(55997), MKS1(54903), DOCK8(81704), CSRP3(8048), RECQL4(9401), MRPS16(51021), ETHE1(23474), DMD(1756), HPS6(79803), ISCU(23479), BMPR2(659), EHMT1(79813), ACAD9(28976), ZMPSTE24(10269), DHCR24(1718), DHCR7(1717), GDF1(2657), DGCR(1714), SH3PXD2B(285590), GDNF(2668), TEK(7010), HGSNAT(138050), ALG1(56052), PCNT(5116), TF(7018), TFAP2B(7021), DES(1674), PCCB(5096), ATP6V0A2(23545), GBA(2629), C4A(720), GBE1(2632), CHST3(9469), PCCA(5095), MYCN(4613), MYOT(9499), GUSB(2990), LYZ(4069), BBS5(129880), SALL4(57167), EDN3(1908), MYH11(4629), IKBKAP(8518), PDE11A(50940), MYH7(4625), MYH9(4627), SMAD4(4089), SMAD9(4093), BAG3(9531), SLC25A20(788), KIF1B(23095), PTGIS(5740), LRP2(4036), LRP5(4041), PTEN(5728), MYLK2(85366), CACNA1C(775), RAI1(10743), RAB23(51715), NAGLU(4669), TCAP(8557), PRSS1(5644), LMNB1(4001), SERPIND1(3053), HCCS(3052), LMNA(4000), EVC2(132884), LOX(4015), PRPS2(5634), SERPINA6(866), LPL(4023), DSP(1832), PRTN3(5657), NDUFA1(4694), LPA(4018), DSG2(1829), CBS(875), DSC2(1824), TBX5(6910), HPS3(84343), CAV3(859), TBX1(6899), PEX3(8504), NDUFS1(4719), SLC26A3(1811), LIFR(3977), TAZ(6901), LIPC(3990), NDUFV1(4723), NDUFS2(4720), HADHB(3032), LIPA(3988), OFD1(8481), HADH(3033), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), CASP10(843), HADHA(3030), PAX8(7849), PIGM(93183), PEX19(5824), EP300(2033), ABCD3(5825), SLC19A2(10560), PEX2(5828), LDLR(3949), PEX5(5830), NDUFAF2(91942), SOX9(6662), SOX2(6657), NF1(4763), ENG(2022), UQCRQ(27089), NSDHL(50814), NEU1(4758), LAMB1(3912), SYNE2(23224), DNAH11(8701), ELN(2006), NDUFAF3(25915), EMD(2010), D2HGDH(728294), INVS(27130), LBR(3930), SPINK1(6690), LAMP2(3920), DNAI1(27019), PTPN11(5781), FBLN5(10516), GSN(2934), NME1(4830), NPHP3(27031), FREM2(341640), ADAMTSL2(9719), NKX2-6(137814), TP63(8626), KRAS(3845), NODAL(4838), MMACHC(25974), SEMA3E(9723), SSTR5(6755), PNP(4860), NOTCH1(4851), NOTCH3(4854), NR3C1(2908)]
ABNORMALITY OF THE CAROTID ARTERIES(HP:0005344)	[ATP7A(538)]
ABNORMALITY OF THE CARPAL BONES(HP:0001191)	[COMP(1311), FBLN1(2192), SALL4(57167), NSD1(64324), FGFR3(2261), EVC2(132884), LMBR1(64327), GDF5(8200), FGFR2(2263), PAX3(5077), FLNA(2316), FLNB(2317), RMRP(6023), NOG(9241), MATN3(4148), DYM(54808), HOXA13(3209), SLC35D1(23169), IHH(3549), WNT7A(7476), EVC(2121), GNPTAB(79158), CANT1(124583), GPC3(2719), TBX5(6910), DDR2(4921), EIF2AK3(9451), EBP(10682), TRPV4(59341), HOXD13(3239), MMP2(4313), POR(5447), RECQL4(9401), PTH1R(5745), BMPR1B(658), ATP7A(538)]
ABNORMALITY OF THE CAUDATE NUCLEUS(HP:0002339)	[VPS13A(23230), TREM2(54209), TYROBP(7305)]
ABNORMALITY OF THE CENTRAL NERVOUS SYSTEM(HP:0002011)	[FBN1(2200), FBN2(2201), HIBCH(26275), SUCLG1(8802), FBP1(2203), SUCLA2(8803), TINF2(26277), SPINK5(11005), VPS33B(26276), SACS(26278), CCBE1(147372), REEP1(65055), DPM1(8813), SLC16A1(6566), TRPM6(140803), SLC16A2(6567), SLC22A5(6584), ABCA1(19), ABAT(18), HESX1(8820), ABCB7(22), FANCD2(2177), FANCC(2176), FANCE(2178), ACADM(34), ACADS(35), ACAT1(38), ACADSB(36), ACADVL(37), SLC6A3(6531), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPL(4352), MPZ(4359), SLC12A3(6559), MPV17(4358), ACP2(53), SLC12A1(6557), ACTA1(58), PUS1(80324), TNFRSF11A(8792), ACTB(60), SNRPN(6638), FH(2271), UPF3B(65109), FGFR1(2260), FGFR3(2261), FGFR2(2263), FGF14(2259), FAM134B(54463), SOS1(6654), HSPB8(26353), FGF3(2248), FGD1(2245), ACY1(95), SOD1(6647), ACVRL1(94), ACVR1(90), SMN1(6606), FOXC2(2303), MSH2(4436), CCM2(83605), SMCR(6600), SMARCB1(6598), NDUFA11(126328), ALOXE3(59344), TRPV4(59341), SNCA(6622), SNCB(6620), SMS(6611), TUBB2B(347733), SMPD1(6609), FHL1(2273), ERBB2(2064), ABCA12(26154), ERCC2(2068), ERCC3(2071), ERCC4(2072), ERCC6(2074), MTM1(4534), SGSH(6448), C7orf11(136647), MTHFR(4524), TMEM67(91147), ADSL(158), CLN8(2055), AGA(175), MFSD8(256471), SPG11(80208), AFP(174), SGCE(8910), MTMR2(8898), FTCD(10841), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), AHCY(191), KIAA1279(26128), OPA3(80207), JAG1(182), AGT(183), EXT2(2132), MYBPC3(4607), SQSTM1(8878), SIX3(6496), EXT1(2131), ST3GAL5(8869), CEP290(80184), MVK(4598), MUSK(4593), SLC1A1(6505), EYA1(2138), MUT(4594), EIF2B2(8892), EIF2B5(8893), TRIM37(4591), SLC2A1(6513), SLC2A2(6514), EIF2B4(8890), EIF2B3(8891), GDAP1(54332), ABCD1(215), EVC(2121), PHGDH(26227), PCDH15(65217), SMARCAL1(50485), FRAS1(80144), SHH(6469), F13A1(2162), FANCA(2175), ALDOB(229), TSEN54(283989), ALDOA(226), ALDH3A2(224), MTRR(4552), ALPL(249), F10(2159), MTR(4548), ALOX12B(242), AMT(275), SCN5A(6331), MAOA(4128), SCN9A(6335), NAGS(162417), SCN1A(6323), ANCR(282), MAPT(4137), MAT1A(4143), SLC6A19(340024), SCN2A(6326), ATXN7(6314), ATXN8OS(6315), SLC7A7(9056), ALX3(257), MC2R(4158), ATXN1(6310), ATXN2(6311), SC5DL(6309), SALL1(6299), RAB39B(116442), NUP62(23636), DCAF17(80067), C10orf2(56652), SLC17A5(26503), MAN2B1(4125), MANBA(4126), SLC6A20(54716), SDHD(6392), SDHC(6391), APP(351), SDHB(6390), INPP5E(56623), SDHA(6389), MECP2(4204), APOE(348), PDP1(54704), APC(324), MEFV(4210), PDSS1(23590), FUCA1(2517), FTL(2512), BSCL2(26580), ABCC6(368), IL1RAPL1(11141), ARG1(383), PLOD3(8985), PANK2(80025), AQP2(359), AR(367), UGT1A1(54658), ATPAF2(91647), ARSA(410), LGI1(9211), ARSB(411), ARSE(415), LARGE(9215), STS(412), RPS6KA3(6197), MGP(4256), BRWD3(254065), FLNA(2316), FLNB(2317), CIITA(4261), MID1(4281), ATXN3(4287), SLC33A1(9197), AFF2(2334), FMR1(2332), AP4M1(9179), ASPA(443), ASS1(445), ASL(435), FOLR1(2348), L2HGDH(79944), ASAH1(427), ADAMTS13(11093), SLC6A5(9152), MGAT2(4247), CTDP1(9150), ATP1A3(478), ATP1A2(477), RYR1(6261), MN1(4330), ATM(472), ATIC(471), FXN(2395), MOCS2(4338), MOCS1(4337), MLH1(4292), ALDH7A1(501), HYLS1(219844), ATP2A2(488), RPS19(6223), FXYD2(486), TH(7054), AVP(551), AUH(549), TGIF1(7050), GLUD1(2746), ATRX(546), TGM1(7051), TGFBR2(7048), ATXN8(724066), HAX1(10456), ATR(545), TGFBR1(7046), GLRB(2743), CLN6(54982), GLRA1(2741), AVPR2(554), CRBN(51185), MCCC1(56922), TGFB1(7040), GLI3(2737), GLE1(2733), THRB(7068), GLDC(2731), NPHP1(4867), GCLC(2729), NPC1(4864), EMG1(10436), GLB1(2720), TK2(7084), COLQ(8292), GLA(2717), GPC3(2719), NKX2-1(7080), NTRK1(4914), GK(2710), ROR2(4920), GJB1(2705), DDR2(4921), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), ATP7B(540), ATP7A(538), SAR1B(51128), MKKS(8195), FBXO7(25793), OCRL(4952), BCS1L(617), COL18A1(80781), GNS(2799), ATXN10(25814), TUBB3(10381), SBDS(51119), ABHD5(51099), GNAS(2778), BBS1(582), BBS2(583), OPHN1(4983), TNNI3(7137), BBS4(585), TNNT1(7138), NIPBL(25836), SDHAF2(54949), BCKDHA(593), GM2A(2760), CCND1(595), BCKDHB(594), KDM5C(8242), TMEM70(54968), TPI1(7167), TP53(7157), SDHAF1(644096), PLA2G6(8398), BTD(686), ATL1(51062), TBX15(6913), GATA1(2623), TCF4(6925), CC2D1A(54862), BRAF(673), OTC(5009), GARS(2617), SLC19A3(80704), BUB1B(701), HNF1B(6928), GALT(2592), GAMT(2593), SLC46A1(113235), BTK(695), TCIRG1(10312), TCOF1(6949), PAH(5053), GALC(2581), BMP4(652), TCN2(6948), GALE(2582), PAFAH1B1(5048), BCOR(54880), GALNS(2588), BLM(641), PSAT1(29968), MKS1(54903), GABRG2(2566), C20orf54(113278), GNPAT(8443), MRPS16(51021), POMT2(29954), GAD1(2571), PAX6(5080), GGCX(2677), B4GALT1(2683), PAX3(5077), PAX2(5076), GPHN(10243), CA2(760), CA8(767), PARK2(5071), AHI1(54806), FAM20C(56975), DYM(54808), GDI1(2664), GFAP(2670), PAK3(5063), GCH1(2643), COQ9(57017), GCK(2645), PCNT(5116), TERC(7012), TERT(7015), SOST(50964), CHST14(113189), GCSH(2653), TFAP2B(7021), TFAP2A(7020), PCCB(5096), C8A(731), C8B(732), GBA(2629), APTX(54840), PC(5091), PCBD1(5092), TG(7038), CABC1(56997), PCCA(5095), GCDH(2639), MYCN(4613), STXBP1(6812), GUSB(2990), MYH3(4621), SALL4(57167), AGPS(8540), GJC2(57165), CAPN3(825), MYF6(4618), IKBKG(8517), IKBKAP(8518), PDE11A(50940), GUCY2D(3000), CDKL5(6792), FOXP2(93986), GYS2(2998), CANT1(124583), MYO7A(4647), MSH6(2956), SLC25A20(788), SEPN1(57190), MYO5A(4644), PRKRA(8575), MCOLN1(57192), SURF1(6834), ABCC8(6833), CACNA1A(773), AP3B1(8546), RAI1(10743), NAGA(4668), NAGLU(4669), SUOX(6821), TAF1(6872), HCCS(3052), KRIT1(889), EVC2(132884), ALG6(29929), NBN(4683), HTT(3064), PDSS2(57107), CUL4B(8450), NDN(4692), NDP(4693), NDUFA1(4694), NDUFA2(4695), CBS(875), HCRT(3060), SYN1(6853), NEB(4703), ALX4(60529), SERPINA7(6906), TBCE(6905), TBP(6908), TBX1(6899), ATCAY(85300), PORCN(64840), PEX3(8504), NDUFS1(4719), RUNX1(861), RUNX2(860), EBP(10682), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), HADHB(3032), HADH(3033), OFD1(8481), BBS7(55212), NDUFS6(4726), CLDN16(10686), NDUFS4(4724), AGRN(375790), NDUFS8(4728), CASR(846), HADHA(3030), HSD17B10(3028), PRSS12(8492), SLC4A4(8671), NEFL(4747), SCARB2(950), SPG7(6687), NDUFAF2(91942), RBM28(55131), ALDH4A1(8659), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), NF1(4763), NSDHL(50814), NEU1(4758), POMT1(10585), PTCH2(8643), GPI(2821), NDUFAF3(25915), D2HGDH(728294), NF2(4771), SPTBN2(6712), PNPO(55163), GFM1(85476), JPH3(57338), THAP1(55145), SPR(6697), TNFSF11(8600), NHS(4810), SLC25A12(8604), PINK1(65018), GSN(2934), NME1(4830), GSS(2937), RNASET2(8635), CHMP2B(25978), TP63(8626), RFXANK(8625), MMACHC(25974), GRN(2896), PDE8B(8622), PNP(4860), PNKD(25953), NOTCH3(4854), FKRP(79147), CHAT(1103), MMADHC(27249), HSD17B4(3295), H19(283120), DNAJC19(131118), SLC35C1(55343), HRAS(3265), COQ2(27235), CTSA(5476), DOLK(22845), FA2H(79152), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), CHRNA2(1135), NOD2(64127), LYST(1130), HSPB1(3315), C20orf7(79133), POU1F1(5449), CHRNE(1145), CHRND(1144), POR(5447), CHRNB1(1140), CHRNA4(1137), DISC2(27184), ZEB2(9839), BBS12(166379), POLG(5428), KCTD7(154881), CDKN2A(1029), POLH(5429), PRICKLE1(144165), CECR(1055), POLA1(5422), ASPM(259266), C8orf38(137682), CNBP(7555), HPRT1(3251), ICK(22858), PMS2(5395), HOXD13(3239), FASTKD2(22868), CUL7(9820), CTSC(1075), GNPTG(84572), SPRED1(161742), HPD(3242), PMP22(5376), PRNP(5621), TRIM32(22954), CCT5(22948), PRPS1(5631), STRA6(64220), PRODH(5625), KIAA0196(9897), HMGCL(3155), PROP1(5626), MAP2K1(5604), MAP2K2(5605), HMBS(3145), ZIC1(7545), MAPK10(5602), FAM126A(84668), HLCS(3141), FGD4(121512), PRKAR1A(5573), PRKCG(5582), COL1A2(1278), RPIA(22934), COL1A1(1277), RAB3GAP1(22930), XPA(7507), WHCR(7467), WFS1(7466), WHSC1(7468), ERCC8(1161), MED12(9968), PPT1(5538), WRN(7486), BEAN(146227), WNT3(7473), HEXA(3073), HEXB(3074), CFH(3075), WNT7A(7476), CLCNKA(1187), NOP10(55505), CLCN7(1186), PPP2R2B(5521), MFN2(9927), SUFU(51684), VLDLR(7436), CLCNKB(1188), VHL(7428), COX4I2(84701), CLN5(1203), TPP1(1200), CLN3(1201), WAS(7454), VRK1(7443), CARD9(64170), MNX1(3110), LEPRE1(64175), VCP(7415), CPT1A(1374), PGK1(5230), CPS1(1373), CPOX(1371), NSD1(64324), VDR(7421), ESCO2(157570), CP(1356), COX15(1355), GNE(10020), UQCRB(7381), TMEM216(51259), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), CRH(1392), PEPD(5184), SCO2(9997), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), UCHL1(7345), PDHA1(5160), COMP(1311), ENPP1(5167), PDGFB(5155), NHP2(55651), COL11A2(1302), TSFM(10102), COL6A1(1291), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), COL4A1(1282), IGF1R(3480), COL2A1(1280), UBE3A(7337), SLC26A4(5172), PQBP1(10084), TTC8(123016), PEX26(55670), POMGNT1(55624), VPS13B(157680), UBA1(7317), COX6B1(1340), SLC39A4(55630), SPG21(51324), FLVCR2(55640), IGHMBP2(3508), TTBK2(146057), TYROBP(7305), CHD7(55636), SLC25A15(10166), PLOD1(5351), CTH(1491), TWIST1(7291), PLP1(5354), CTNS(1497), IDS(3423), IYD(389434), CSTB(1476), TTR(7276), TTPA(7274), TTN(7273), ATP6AP2(10159), PMM2(5373), AASS(10157), NKX2-5(1482), LRPPRC(10128), TSHB(7252), TSHR(7253), SP110(3431), TSC1(7248), TSC2(7249), CTSD(1509), ARX(170302), MBTPS2(51360), PLG(5340), HSPG2(3339), MBD5(55777), CD96(10225), HSPD1(3329), LMBRD1(55788), PRKAG2(51422), TRH(7200), PKD2(5311), ALG3(10195), MMAB(326625), PHEX(5251), PHKA2(5256), CDK5RAP2(55755), FTO(79068), PHKG2(5261), CST3(1471), PHYH(5264), TPM2(7169), TPM3(7170), SERPINI1(5274), G6PC3(92579), SH3TC2(79628), RET(5979), CENPJ(55835), DCX(1641), MMAA(166785), DDC(1644), GAN(8139), DCTN1(1639), ACE(1636), REN(5972), DCR(1637), LRRK2(120892), GCM2(9247), CRLF1(9244), ADAMTS10(81794), RPGRIP1L(23322), SBF2(81846), KIF5A(3798), MCPH1(79648), RFX5(5993), KCNMA1(3778), RFXAP(5994), DBT(1629), KCNQ2(3785), VANGL1(81839), KCNQ3(3786), DBH(1621), KCNJ10(3766), NDUFS7(374291), KCNJ11(3767), RAPSN(5913), GPR56(9289), MED25(81857), AAAS(8086), KCNC3(3748), CYP27B1(1594), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), KCNJ2(3759), KCNJ1(3758), GPR98(84059), KAL1(3730), NDUFAF4(29078), KCNA1(3736), ATP13A2(23400), PABPN1(8106), JAK2(3717), BBS10(79738), SNAP29(9342), FAM123B(139285), IVD(3712), DOK7(285489), MLYCD(23417), AMN(81693), SLC25A22(79751), DMPK(1760), ITPR1(3708), ZIC4(84107), ARL6(84100), B4GALT7(11285), ITGB3(3690), TREX1(11277), CUBN(8029), ALS2(57679), DNM2(1785), LHX3(8022), DNMT3B(1789), ZFYVE27(118813), ITGA2B(3674), DLAT(1737), IRF6(3664), DKC1(1736), PARK7(11315), DLD(1738), PRX(57716), DOCK8(81704), RPE65(6121), RECQL4(9401), PDHX(8050), ETHE1(23474), DMD(1756), ZFYVE26(23503), EHMT1(79813), INSR(3643), ACAD9(28976), TNFRSF13B(23495), CYP7B1(9420), INS(3630), DHCR24(1718), RMRP(6023), DGUOK(1716), DHCR7(1717), DGCR(1714), OSTM1(28962), CYB5R3(1727), EPM2A(7957), ITM2B(9445), HGSNAT(138050), ALG1(56052), PTPRQ(374462), TIMM8A(1678), EIF2AK3(9451), DES(1674), ATP6V0A2(23545), ARHGEF6(9459), CHST3(9469), MYOT(9499), BBS5(129880), SH2D1A(4068), SETX(23064), CC2D2A(57545), EDNRA(1909), EDNRB(1910), RAB7A(7879), PTCH1(5727), SMAD4(4089), TYMP(1890), ECM1(1893), NIPA1(123606), KIF1B(23095), PTH(5741), LRP2(4036), LRP5(4041), PTEN(5728), UPB1(51733), LITAF(9516), ALDH5A1(7915), RAB23(51715), DYT3(1863), TOR1A(1861), ADAMTS2(9509), LMNB1(4001), LMNA(4000), NHLRC1(378884), PRPS2(5634), LMX1B(4010), PSAP(5660), SLC26A2(1836), SPG20(23111), PSEN1(5663), PHF6(84295), BSND(7809), TREM2(54209), NLGN4X(57502), RELN(5649), ATN1(1822), TUBA8(51807), DRD2(1813), PSEN2(5664), DPYD(1806), TUBA1A(7846), DPYS(1807), PCDH19(57526), ALMS1(7840), MOGS(7841), DPAGT1(1798), PAX8(7849), PIGM(93183), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), PEX5(5830), PYCR1(5831), ALDH18A1(5832), LDHA(3939), ENG(2022), UQCRQ(27089), SLC36A2(153201), PLEKHG5(57449), LAMB2(3913), VPS13A(23230), QDPR(5860), ARHGEF9(23229), LAMA2(3908), LBR(3930), RAB27A(5873), MLC1(23209), LAMP2(3920), ZBTB16(7704), DNAI1(27019), PTPN11(5781), EGR2(1959), L1CAM(3897), EIF2B1(1967), NPHP3(27031), FREM2(341640), ADAMTSL2(9719), NLRP3(114548), KRAS(3845), PTS(5805), EFNB1(1947), SUMF1(285362), SEMA3E(9723), DUOXA2(405753), SLITRK1(114798)]
ABNORMALITY OF THE CEREBELLAR VERMIS(HP:0002334)	[GPC3(2719), TMEM216(51259), OPHN1(4983), ATR(545), SACS(26278), ZIC4(84107), INPP5E(56623), MVK(4598), CEP290(80184), PSAT1(29968), TFAP2A(7020), TUBA1A(7846), CACNA1A(773), MPL(4352), TMEM67(91147), L1CAM(3897), NPHP1(4867), ZIC1(7545), AHI1(54806), RPE65(6121)]
ABNORMALITY OF THE CEREBELLUM(HP:0001317)	[FBN1(2200), FKRP(79147), AUH(549), TINF2(26277), TGFBR2(7048), ATXN8(724066), ATR(545), SACS(26278), MYH3(4621), SETX(23064), TGFBR1(7046), GAN(8139), HSD17B4(3295), SLC6A19(340024), DNAJC19(131118), ATXN7(6314), ATXN8OS(6315), ABAT(18), NPHP1(4867), GCLC(2729), ABCB7(22), NPC1(4864), COQ2(27235), FA2H(79152), ATXN1(6310), ATXN2(6311), SC5DL(6309), UQCRB(7381), GPC3(2719), TMEM216(51259), PEX7(5191), MCOLN1(57192), C10orf2(56652), FKTN(2218), SLC9A6(10479), MPL(4352), CACNA1A(773), POR(5447), SIL1(64374), MAN2B1(4125), KCNJ10(3766), LMNB1(4001), RAPSN(5913), GPR56(9289), FGFR1(2260), EVC2(132884), INPP5E(56623), BCS1L(617), FGFR2(2263), POLG(5428), FGF14(2259), COL18A1(80781), PDSS2(57107), SPG20(23111), KCNC3(3748), ATXN10(25814), CYP27A1(1593), PDSS1(23590), ACY1(95), FTL(2512), ATN1(1822), POMGNT1(55624), SLC39A4(55630), OPHN1(4983), TBP(6908), ATCAY(85300), PORCN(64840), EBP(10682), TUBA1A(7846), CCND1(595), OFD1(8481), DOK7(285489), TTBK2(146057), TUBB2B(347733), PRNP(5621), BTD(686), PLA2G6(8398), LARGE(9215), ERCC3(2071), ITPR1(3708), ZIC4(84107), SCARB2(950), SPG7(6687), ERCC6(2074), PLP1(5354), BUB1B(701), TMEM67(91147), NPC2(10577), ATXN3(4287), ZIC1(7545), TTPA(7274), ADSL(158), FAM126A(84668), CLN8(2055), UQCRQ(27089), PMM2(5373), POMT1(10585), AP4M1(9179), GPI(2821), MFSD8(256471), PAFAH1B1(5048), DKC1(1736), PSAT1(29968), SPTBN2(6712), L2HGDH(79944), CTSD(1509), MKS1(54903), RAB27A(5873), C20orf54(113278), PRKCG(5582), PLG(5340), RPE65(6121), RPIA(22934), POMT2(29954), ZFYVE26(23503), CD96(10225), ATP1A2(477), SIX3(6496), ATM(472), B4GALT1(2683), MVK(4598), CEP290(80184), CYP7B1(9420), PAX2(5076), DHCR7(1717), L1CAM(3897), CA8(767), AHI1(54806), BEAN(146227), HEXB(3074), NPHP3(27031), EVC(2121), PPP2R2B(5521), COQ9(57017), ALG3(10195), TERC(7012), TERT(7015), VLDLR(7436), FTO(79068), HYLS1(219844), TSEN54(283989), TFAP2A(7020), VHL(7428), PHYH(5264), CLN3(1201), VRK1(7443), APTX(54840), NOTCH3(4854), CABC1(56997)]
ABNORMALITY OF THE CEREBRAL CORTEX(HP:0002538)	[PEX19(5824), FKRP(79147), CENPJ(55835), DCX(1641), PEX2(5828), LARGE(9215), VPS33B(26276), PEX5(5830), ATR(545), CCBE1(147372), HSD17B4(3295), POMT1(10585), PAFAH1B1(5048), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), TSC1(7248), TSC2(7249), ETFDH(2110), MCPH1(79648), LAMA2(3908), ETFB(2109), ETFA(2108), FKTN(2218), ARX(170302), RECQL4(9401), CPT2(1376), POMT2(29954), FH(2271), GPR56(9289), RAPSN(5913), MECP2(4204), COL18A1(80781), FREM2(341640), ASPM(259266), RELN(5649), PEX26(55670), FRAS1(80144), TUBA8(51807), POMGNT1(55624), VLDLR(7436), CDK5RAP2(55755), FTO(79068), HYLS1(219844), PEX3(8504), TUBA1A(7846), SNAP29(9342), ATP6V0A2(23545), DOK7(285489), PC(5091), TUBB2B(347733)]
ABNORMALITY OF THE CEREBRAL VENTRICLES(HP:0002118)	[PEX19(5824), FKRP(79147), LARGE(9215), ERCC3(2071), PEX5(5830), RPS6KA3(6197), ZIC4(84107), NSD1(64324), HSD17B4(3295), BUB1B(701), ATXN3(4287), ZIC1(7545), NF1(4763), MAPK10(5602), POMT1(10585), ATXN2(6311), GLB1(2720), AP4M1(9179), PAFAH1B1(5048), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), D2HGDH(728294), B3GALTL(145173), PTEN(5728), TSC1(7248), TSC2(7249), FKTN(2218), ARX(170302), PDHX(8050), SLC12A6(9990), MRPS16(51021), CPT2(1376), POMT2(29954), PDHA1(5160), FH(2271), OCRL(4952), FGFR2(2263), TSFM(10102), COL18A1(80781), TRIM37(4591), L1CAM(3897), PEX26(55670), RNASET2(8635), GNAS(2778), TBCE(6905), POMGNT1(55624), OPHN1(4983), ICK(22858), TNNI3(7137), PEX3(8504), EBP(10682), TUBA1A(7846), GRN(2896), GBA(2629), CTSC(1075), TP53(7157), GCDH(2639)]
ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500)	[SLC25A15(10166), ARSA(410), RNASET2(8635), ACADS(35), FKRP(79147), PAFAH1B1(5048), D2HGDH(728294), ERCC6(2074), POLG(5428), TSC1(7248), GJB1(2705), LAMA2(3908), DPYD(1806), PSAP(5660), DPYS(1807), MLC1(23209), GJA1(2697), TREX1(11277), TYMP(1890), NAGA(4668)]
ABNORMALITY OF THE CEREBRUM(HP:0002060)	[FBN1(2200), FKRP(79147), HIBCH(26275), DCX(1641), SUCLA2(8803), CENPJ(55835), AUH(549), TINF2(26277), ATRX(546), MMADHC(27249), VPS33B(26276), ATR(545), CCBE1(147372), HSD17B4(3295), DPM1(8813), ACE(1636), REN(5972), SLC16A2(6567), GLI3(2737), SLC35C1(55343), ABAT(18), GLDC(2731), GCM2(9247), HRAS(3265), HESX1(8820), RPGRIP1L(23322), FANCD2(2177), DOLK(22845), FANCC(2176), FANCE(2178), EMG1(10436), UBR1(197131), GLB1(2720), ACADM(34), TK2(7084), ACADS(35), GPC3(2719), ACADSB(36), B3GALTL(145173), GJB1(2705), SLC6A8(6535), DDR2(4921), MCPH1(79648), FKTN(2218), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), DBT(1629), C20orf7(79133), GJA1(2697), MPV17(4358), VANGL1(81839), POR(5447), PUS1(80324), ATP7A(538), FH(2271), RAPSN(5913), ZEB2(9839), GPR56(9289), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), POLG(5428), POLH(5429), COL18A1(80781), AAAS(8086), TUBB3(10381), KCNJ2(3759), ACY1(95), ACVRL1(94), ASPM(259266), GNAS(2778), ICK(22858), NDUFA11(126328), NDUFAF4(29078), NIPBL(25836), BCKDHA(593), TMEM70(54968), KDM5C(8242), BCKDHB(594), SNAP29(9342), FAM123B(139285), DOK7(285489), CTSC(1075), SDHAF1(644096), TUBB2B(347733), PRNP(5621), BTD(686), PLA2G6(8398), SLC25A22(79751), ERCC2(2068), TBX15(6913), ERCC3(2071), ZIC4(84107), TCF4(6925), PRPS1(5631), ERCC6(2074), BRAF(673), OTC(5009), MAP2K1(5604), MAP2K2(5605), BUB1B(701), MTHFR(4524), ZIC1(7545), HNF1B(6928), MAPK10(5602), ADSL(158), ALS2(57679), TREX1(11277), CLN8(2055), SLC46A1(113235), PAH(5053), GALC(2581), BMP4(652), AGA(175), MFSD8(256471), SPG11(80208), PAFAH1B1(5048), DLAT(1737), DKC1(1736), DLD(1738), PSAT1(29968), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), MKS1(54903), AGTR1(185), GNPAT(8443), RECQL4(9401), RPIA(22934), PDHX(8050), MRPS16(51021), ETHE1(23474), KIAA1279(26128), AGT(183), RAB3GAP1(22930), XPA(7507), GAD1(2571), POMT2(29954), ZFYVE26(23503), WHCR(7467), WFS1(7466), EHMT1(79813), WHSC1(7468), SIX3(6496), ACAD9(28976), ERCC8(1161), ST3GAL5(8869), MVK(4598), PAX3(5077), EYA1(2138), MUT(4594), EIF2B2(8892), DHCR24(1718), MED12(9968), EIF2B5(8893), GPHN(10243), PPT1(5538), DGUOK(1716), CA2(760), DHCR7(1717), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), FAM20C(56975), DYM(54808), CYB5R3(1727), PAK3(5063), PHGDH(26227), NOP10(55505), FRAS1(80144), PPP2R2B(5521), SHH(6469), ALG1(56052), PCNT(5116), VLDLR(7436), FANCA(2175), TSEN54(283989), GCSH(2653), TFAP2A(7020), EIF2AK3(9451), PCCB(5096), TPP1(1200), CLN3(1201), ATP6V0A2(23545), GBA(2629), MTR(4548), PC(5091), PCCA(5095), AMT(275), VCP(7415), MYCN(4613), STXBP1(6812), CPS1(1373), MYH3(4621), NSD1(64324), ANCR(282), MAPT(4137), GJC2(57165), IKBKG(8517), ESCO2(157570), ALX3(257), CDKL5(6792), PTCH1(5727), SMAD4(4089), FOXP2(93986), TYMP(1890), ECM1(1893), SC5DL(6309), SALL1(6299), TMEM216(51259), PEX10(5192), PTH(5741), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), UPB1(51733), MCOLN1(57192), CRH(1392), C10orf2(56652), AP3B1(8546), SLC17A5(26503), CREBBP(1387), SIL1(64374), SLC12A6(9990), NAGA(4668), CPT2(1376), PDHA1(5160), LMNB1(4001), HCCS(3052), KRIT1(889), NHP2(55651), SDHA(6389), NBN(4683), MECP2(4204), PRPS2(5634), PSAP(5660), PSEN1(5663), PHF6(84295), IGF1(3479), IGBP1(3476), NDUFA1(4694), TREM2(54209), COL4A1(1282), IGF1R(3480), FUCA1(2517), UBE3A(7337), RELN(5649), FTL(2512), PQBP1(10084), PEX26(55670), TUBA8(51807), TBCE(6905), POMGNT1(55624), VPS13B(157680), ABCC6(368), TBP(6908), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), TUBA1A(7846), DPYD(1806), DPYS(1807), NDUFV1(4723), FLVCR2(55640), NDUFS2(4720), OFD1(8481), PANK2(80025), NDUFS6(4726), NDUFS4(4724), DPAGT1(1798), TYROBP(7305), CASR(846), ATPAF2(91647), CHD7(55636), SLC25A15(10166), PEX19(5824), ARSA(410), EP300(2033), PEX2(5828), ARSE(415), LARGE(9215), PEX5(5830), PYCR1(5831), RPS6KA3(6197), ALDH18A1(5832), MGP(4256), SPG7(6687), PLP1(5354), RBM28(55131), NDUFAF2(91942), CTNS(1497), MID1(4281), SOX2(6657), ENG(2022), PMM2(5373), POMT1(10585), AP4M1(9179), ASPA(443), NDUFAF3(25915), VPS13A(23230), ASS1(445), QDPR(5860), D2HGDH(728294), ASL(435), SP110(3431), TSC1(7248), TSC2(7249), LAMA2(3908), L2HGDH(79944), PNPO(55163), CTSD(1509), MLC1(23209), ARX(170302), GFM1(85476), SPR(6697), CTDP1(9150), ATP1A2(477), CD96(10225), ZBTB16(7704), HSPD1(3329), L1CAM(3897), EIF2B1(1967), FREM2(341640), MOCS2(4338), MOCS1(4337), RNASET2(8635), CHMP2B(25978), ALG3(10195), CDK5RAP2(55755), FTO(79068), KRAS(3845), PTS(5805), HYLS1(219844), SEMA3E(9723), MMACHC(25974), EFNB1(1947), GRN(2896), PDE8B(8622), RPS19(6223), SERPINI1(5274), G6PC3(92579), NOTCH3(4854)]
ABNORMALITY OF THE CERVICAL SPINE(HP:0003319)	[FBN1(2200), FBN2(2201), GUSB(2990), ATRX(546), MYH3(4621), FLNB(2317), IDS(3423), ESCO2(157570), GLE1(2733), BUB1B(701), SOX9(6662), HRAS(3265), CRLF1(9244), SLC35D1(23169), LHX3(8022), GLB1(2720), CHRNA1(1134), GALNS(2588), ROR2(4920), DDR2(4921), MKS1(54903), CHRNG(1146), CHRND(1144), KIAA1279(26128), MGAT2(4247), TRAPPC2(6399), HSPG2(3339), RAPSN(5913), FGFR1(2260), FGFR2(2263), MECP2(4204), MED12(9968), PTPN11(5781), SLC26A2(1836), RMRP(6023), SOS1(6654), GNS(2799), IGBP1(3476), DYM(54808), GPC6(10082), FGD1(2245), COL2A1(1280), GDF6(392255), SMARCAL1(50485), GNAS(2778), TRIP11(9321), TNNI2(7136), WISP3(8838), FTO(79068), TNNT3(7140), NIPBL(25836), EFNB1(1947), TFAP2A(7020), ALDOA(226), LIFR(3977), EBP(10682), TRPV4(59341), DLL3(10683), OFD1(8481), MMP2(4313), DOK7(285489), CUL7(9820), GNPTG(84572), TPM2(7169), CHST3(9469), RPS19(6223), FHL1(2273)]
ABNORMALITY OF THE CHEEKS(HP:0004426)	[PCCB(5096), HSPG2(3339), GNAS(2778), LMNA(4000), CRLF1(9244), SH3PXD2B(285590), PCCA(5095)]
ABNORMALITY OF THE CHIN(HP:0000306)	[RET(5979), RPS6KA3(6197), MYH3(4621), ANCR(282), NSD1(64324), ERCC6(2074), FLNA(2316), TGFB1(7040), EDA(1896), CDKL5(6792), PTCH1(5727), GNPTAB(79158), GLB1(2720), FMR1(2332), UPK3A(7380), AP4M1(9179), GALNS(2588), LRP5(4041), SLC6A8(6535), SLC9A6(10479), CHRNE(1145), RECQL4(9401), CHRNB1(1140), MAN2B1(4125), TNFSF11(8600), UPF3B(65109), EHMT1(79813), INSR(3643), RAPSN(5913), ZEB2(9839), ERCC8(1161), FGFR1(2260), MECP2(4204), FGFR2(2263), MUSK(4593), PAX3(5077), EYA1(2138), PTPN11(5781), SOS1(6654), DYM(54808), UBE3A(7337), PQBP1(10084), BSCL2(26580), ANKH(56172), STAT3(6774), SOST(50964), OPHN1(4983), TNNI2(7136), PORCN(64840), TNNT3(7140), KDM5C(8242), GORAB(92344), CUL7(9820), TPM2(7169), AGPAT2(10555), SMS(6611)]
ABNORMALITY OF THE CHOANAE(HP:0000415)	[TCOF1(6949), FRAS1(80144), SHH(6469), FOXE1(2304), TP63(8626), FGFR1(2260), SALL4(57167), NBN(4683), FGFR2(2263), SEMA3E(9723), NIPBL(25836), ZMPSTE24(10269), MED12(9968), HOXD13(3239), SPINT2(10653), FAM20C(56975), POR(5447), WNT3(7473), RECQL4(9401), PTH1R(5745), FREM2(341640), CHD7(55636)]
ABNORMALITY OF THE CHOROID(HP:0000610)	[SLC25A15(10166), EP300(2033), RPGR(6103), RP2(6102), CYP4V2(285440), INPP5E(56623), MED12(9968), RS1(6247), TRIM37(4591), CECR(1055), TEAD1(7003), OAT(4942), SALL1(6299), CRX(1406), VPS13B(157680), TMEM216(51259), BEST1(7439), VCAN(1462), CLCNKB(1188), PORCN(64840), CHML(1122), CHM(1121), GJA1(2697), CREBBP(1387), JAG1(182), CRB1(23418)]
ABNORMALITY OF THE CHOROID PLEXUS(HP:0007376)	[GNAS(2778), FH(2271), CTSC(1075), TP53(7157)]
ABNORMALITY OF THE CHROMOSOMES(HP:0002916)	[SHH(6469), MN1(4330), FANCA(2175), PTEN(5728), TSC1(7248), BLM(641), TSC2(7249), NF2(4771), MCPH1(79648), SEC23B(10483), LBR(3930), ESCO2(157570), BUB1B(701), POLA1(5422), CDAN1(146059), FANCD2(2177), FANCC(2176), FANCE(2178), FMR1(2332)]
ABNORMALITY OF THE CLAVICLES(HP:0000889)	[FBN1(2200), TBCE(6905), HPGD(3248), LMNA(4000), TBX15(6913), SOST(50964), PORCN(64840), TBX3(6926), LRP5(4041), EFNB1(1947), ZMPSTE24(10269), B4GALT7(11285), FLNA(2316), RUNX2(860), LBR(3930), MSX2(4488), FAM123B(139285), HOXD13(3239), CHRNG(1146), SLC35D1(23169), NSDHL(50814), WNT7A(7476), ATP7A(538)]
ABNORMALITY OF THE CLITORIS(HP:0000056)	[PEX19(5824), ABCD3(5825), SNRPN(6638), CD96(10225), PEX2(5828), INSR(3643), HCCS(3052), PEX5(5830), ATR(545), ATIC(471), HBB(3043), ESCO2(157570), NDN(4692), FREM2(341640), UBR1(197131), PEX26(55670), CYP11B1(1584), BSCL2(26580), FRAS1(80144), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PORCN(64840), B3GALTL(145173), PEX3(8504), ROR2(4920), AGPAT2(10555), POR(5447)]
ABNORMALITY OF THE CLIVUS(HP:0010558)	[FLNA(2316)]
ABNORMALITY OF THE COCCYX(HP:0008519)	[TRPV4(59341), TBX15(6913)]
ABNORMALITY OF THE COLUMELLA(HP:0009929)	[EP300(2033), NOG(9241), ALX3(257), CREBBP(1387), ZEB2(9839)]
ABNORMALITY OF THE CONJUNCTIVA(HP:0000502)	[BTD(686), GJB6(10804), DDB2(1643), ERCC2(2068), ATM(472), SETX(23064), TNFRSF13B(23495), FGFR2(2263), ERCC6(2074), FGF23(8074), POLH(5429), AIRE(326), COL7A1(1294), RAG2(5897), ENG(2022), RAG1(5896), KL(9365), SAMD9(54809), CTSA(5476), BTK(695), FUCA1(2517), ACVRL1(94), FOXC2(2303), SAT1(6303), NLRP3(114548), TP63(8626), DKC1(1736), GALNT3(2591), UROS(7390), GJB2(2706), PLG(5340), XPC(7508), ICOS(29851), XPA(7507), MANBA(4126)]
ABNORMALITY OF THE CORNEA(HP:0000481)	[FKRP(79147), FBN2(2201), DDB2(1643), GUSB(2990), TINF2(26277), BBS5(129880), TACSTD2(4070), CC2D2A(57545), TGFBI(7045), IKBKG(8517), ESCO2(157570), IKBKAP(8518), ABCA1(19), SLC4A11(83959), GUCY2D(3000), CTSA(5476), GNPTAB(79158), BBS9(27241), GLB1(2720), SC5DL(6309), GLA(2717), NOD2(64127), SLC2A10(81031), PEX10(5192), PEX14(5195), NTRK1(4914), SAT1(6303), PEX13(5194), PEX1(5189), PTEN(5728), B3GALTL(145173), UROS(7390), MCOLN1(57192), GJB2(2706), VSX1(30813), FKTN(2218), GJA8(2703), GJA1(2697), RAB23(51715), CACNA1F(778), TRAPPC2(6399), MKKS(8195), HCCS(3052), APOB(338), APOA2(336), CYP4V2(285440), FGFR3(2261), COL8A2(1296), BBS12(166379), POLH(5429), APOC2(344), LMX1B(4010), COL18A1(80781), AIRE(326), FGF10(2255), LPL(4023), PIKFYVE(200576), COL7A1(1294), NDP(4693), APOA1(335), COL3A1(1281), PEX26(55670), TTC8(123016), FOXC2(2303), CHST6(4166), FOXE3(2301), SLC37A4(2542), BBS1(582), FOXC1(2296), BBS2(583), G6PC(2538), TBX1(6899), BBS4(585), PEX3(8504), NIPBL(25836), LIFR(3977), BBS10(79738), TYR(7299), BBS7(55212), CLDN16(10686), GNPTG(84572), UBIAD1(29914), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), SLC4A4(8671), PEX2(5828), LARGE(9215), ERCC2(2068), LDLR(3949), PEX5(5830), TRIM32(22954), TBX15(6913), STS(412), ARL6(84100), ERCC6(2074), CTNS(1497), FLNB(2317), POMT1(10585), OSMR(9180), BCOR(54880), GALNS(2588), KERA(11081), FOXL2(668), LCAT(3931), MKS1(54903), RPE65(6121), RECQL4(9401), XPC(7508), ZNF469(84627), KIAA1279(26128), JAG1(182), RAB3GAP1(22930), XPA(7507), PLEC(5339), POMT2(29954), CTDP1(9150), HSPG2(3339), NHS(4810), PAX6(5080), DNAI1(27019), ERCC8(1161), CEP290(80184), TRIM37(4591), DGCR(1714), RAX(30062), GSN(2934), TEAD1(7003), FREM2(341640), PITX3(5309), PITX2(5308), SMARCAL1(50485), FRAS1(80144), ST14(6768), BEST1(7439), KRT3(3850), ALDH3A2(224), MMP2(4313), GBA(2629), KRT12(3859)]
ABNORMALITY OF THE CORONARY ARTERIES(HP:0006704)	[GLA(2717), ENPP1(5167), ABCG8(64241), SERPIND1(3053), LMNA(4000), ABCG5(64240), ABCC6(368), LDLR(3949), APOB(338), APOA2(336), APOE(348), LIPC(3990), HGD(3081), ABCA1(19), TTR(7276), LPL(4023), CYP27A1(1593), MYH9(4627), APOA1(335), CBS(875), GLB1(2720)]
ABNORMALITY OF THE CORPUS CALLOSUM(HP:0001273)	[AMT(275), PEX19(5824), FKRP(79147), EP300(2033), STXBP1(6812), HIBCH(26275), DCX(1641), LARGE(9215), PEX5(5830), PYCR1(5831), NSD1(64324), TCF4(6925), ERCC6(2074), HSD17B4(3295), BRAF(673), GLI3(2737), MAP2K1(5604), MAP2K2(5605), MID1(4281), ABAT(18), BUB1B(701), ALX3(257), GLDC(2731), SOX2(6657), HESX1(8820), MAPK10(5602), POMT1(10585), GPC3(2719), ASPA(443), TMEM216(51259), SPG11(80208), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PTEN(5728), B3GALTL(145173), CRH(1392), MCOLN1(57192), L2HGDH(79944), MKS1(54903), FKTN(2218), GFM1(85476), ARX(170302), CREBBP(1387), RECQL4(9401), PDHX(8050), SLC12A6(9990), MRPS16(51021), CPT2(1376), RAB3GAP1(22930), POMT2(29954), ZFYVE26(23503), CD96(10225), PDHA1(5160), HCCS(3052), SIX3(6496), ZEB2(9839), FGFR2(2263), MED12(9968), DHCR24(1718), DHCR7(1717), L1CAM(3897), IGBP1(3476), TUBB3(10381), TREM2(54209), PEX26(55670), VPS13B(157680), ICK(22858), PORCN(64840), KRAS(3845), PEX3(8504), HYLS1(219844), GCSH(2653), EFNB1(1947), DPYD(1806), TUBA1A(7846), OFD1(8481), SNAP29(9342), FAM123B(139285), TYROBP(7305), TUBB2B(347733)]
ABNORMALITY OF THE CORTICOSPINAL TRACT(HP:0002492)	[ARSA(410), PLA2G6(8398), ATL1(51062), LARGE(9215), DDC(1644), SACS(26278), CCT5(22948), SETX(23064), GJC2(57165), SPG7(6687), KIAA0196(9897), PLP1(5354), NDUFAF2(91942), REEP1(65055), SLC16A2(6567), SPAST(6683), ATXN7(6314), ATXN3(4287), SLC33A1(9197), ABCB7(22), FAM126A(84668), ALS2(57679), FA2H(79152), ATXN1(6310), ZFYVE27(118813), NIPA1(123606), AP4M1(9179), NDUFAF3(25915), SPG11(80208), KIF5A(3798), MCOLN1(57192), ACOX1(51), C20orf7(79133), OPA3(80207), MAN2B1(4125), GAD1(2571), CTDP1(9150), ZFYVE26(23503), FBXO7(25793), LMNB1(4001), GPR56(9289), SDHA(6389), MECP2(4204), HSPD1(3329), CYP7B1(9420), PRICKLE1(144165), PSAP(5660), AAAS(8086), SPG20(23111), PSEN1(5663), L1CAM(3897), SLC2A1(6513), NDUFA1(4694), TREM2(54209), COL4A1(1282), SOD1(6647), FXN(2395), FTL(2512), BSCL2(26580), CHMP2B(25978), MFN2(9927), NDUFA11(126328), NDUFAF4(29078), KCNA1(3736), NDUFS1(4719), ATP13A2(23400), NDUFV1(4723), NDUFS2(4720), KDM5C(8242), PANK2(80025), NDUFS6(4726), NDUFS4(4724), TYROBP(7305), SDHAF1(644096)]
ABNORMALITY OF THE CRANIAL NERVES(HP:0001291)	[TNFSF11(8600), CLCN7(1186), NOD2(64127), SQSTM1(8878), LYST(1130), SDHD(6392), SOST(50964), ZIC4(84107), SDHC(6391), SDHB(6390), SEMA3E(9723), NF2(4771), TGFB1(7040), EYA1(2138), SDHAF2(54949), ESCO2(157570), CA2(760), HRAS(3265), ZIC1(7545), C20orf54(113278), TNFRSF11A(8792), CHD7(55636), TCIRG1(10312)]
ABNORMALITY OF THE CRUS OF THE EAR(HP:0009895)	[SALL1(6299), SLC16A2(6567)]
ABNORMALITY OF THE CURVATURE OF THE VERTEBRAL COLLUMN(HP:0010674)	[SH3TC2(79628), FBN1(2200), FBN2(2201), FKRP(79147), RET(5979), NPR2(4882), ATRX(546), TGFBR2(7048), ATR(545), TGFBR1(7046), CCBE1(147372), TGFB1(7040), SLC16A2(6567), CRLF1(9244), ADAMTS10(81794), PPIB(5479), GNPTAB(79158), GLB1(2720), CHRNA1(1134), COLQ(8292), SBF2(81846), ACADS(35), GPC3(2719), KIF5A(3798), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), DDR2(4921), RAB3GAP2(25782), GJA1(2697), MPZ(4359), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), ACTA1(58), ATP7A(538), ACTB(60), SNRPN(6638), UPF3B(65109), FGFR3(2261), OCRL(4952), SOS1(6654), HSPB8(26353), FGD1(2245), KCNJ2(3759), GDF6(392255), ACVR1(90), PTRF(284119), FOXC2(2303), SMCR(6600), TNNI2(7136), TNNT3(7140), TRPV4(59341), HOXD13(3239), FAM123B(139285), CUL7(9820), GNPTG(84572), PMP22(5376), SMS(6611), FHL1(2273), ATL1(51062), ROBO3(64221), ERCC6(2074), SGCA(6442), SGCG(6445), GARS(2617), ALS2(57679), FAM126A(84668), AGA(175), GALNS(2588), MTMR2(8898), FGD4(121512), PRX(57716), PRKAR1A(5573), C20orf54(113278), GNPAT(8443), COL1A2(1278), RECQL4(9401), ZNF469(84627), COL1A1(1277), DMD(1756), RAB3GAP1(22930), GAD1(2571), WHCR(7467), SIX3(6496), WHSC1(7468), ERCC8(1161), ZMPSTE24(10269), MED12(9968), RMRP(6023), HGD(3081), DGCR(1714), DYM(54808), GDAP1(54332), SMARCAL1(50485), MFN2(9927), CLCF1(23529), WISP3(8838), TFAP2A(7020), EIF2AK3(9451), SHOX(6473), ALDH3A2(224), ATP6V0A2(23545), CHST3(9469), APTX(54840), LEPRE1(64175), VCP(7415), BIN1(274), GUSB(2990), SETX(23064), SALL4(57167), MYH3(4621), ANCR(282), NSD1(64324), MAPT(4137), IKBKG(8517), PDE11A(50940), IKBKAP(8518), CDKL5(6792), MATN3(4148), PAPSS2(9060), PTCH1(5727), GNE(10020), IHH(3549), CANT1(124583), BAG3(9531), SEPN1(57190), AIP(9049), LRP5(4041), PEX7(5191), PTEN(5728), UPB1(51733), CREBBP(1387), SIL1(64374), RAI1(10743), SLC12A6(9990), RAB23(51715), MAN2B1(4125), TOR1A(1861), TRAPPC2(6399), COMP(1311), LMNA(4000), MECP2(4204), COL11A2(1302), LMX1B(4010), SLC26A2(1836), COL6A1(1291), SPG20(23111), CUL4B(8450), NDN(4692), PHF6(84295), IGBP1(3476), COL6A2(1292), COL6A3(1293), COL2A1(1280), FUCA1(2517), UBE3A(7337), CBS(875), PQBP1(10084), NEB(4703), VPS13B(157680), UBA1(7317), TBX5(6910), ABCC6(368), TBX1(6899), PORCN(64840), PLOD3(8985), LIFR(3977), RUNX2(860), EBP(10682), ALMS1(7840), MOGS(7841), HSD17B10(3028), CHD7(55636), EP300(2033), ARSB(411), PLOD1(5351), PYCR1(5831), RPS6KA3(6197), ALDH18A1(5832), SPG7(6687), RBM28(55131), FLNA(2316), FLNB(2317), IDS(3423), SOX9(6662), NF1(4763), NSDHL(50814), PMM2(5373), POMT1(10585), FMR1(2332), PLEKHG5(57449), LAMA2(3908), ARX(170302), CTSK(1513), MGAT2(4247), CTDP1(9150), HSPG2(3339), TRPS1(7227), CD96(10225), RYR1(6261), PTPN11(5781), EGR2(1959), L1CAM(3897), FXN(2395), STAT3(6774), SEMA3E(9723), MMP2(4313), TPM2(7169), TPM3(7170)]
ABNORMALITY OF THE DENTAL PULP(HP:0006479)	[DSPP(1834), KL(9365), GALNT3(2591), FGF23(8074)]
ABNORMALITY OF THE DIAPHRAGM(HP:0000775)	[BAG3(9531), LAMB1(3912), GPC3(2719), HCCS(3052), EFEMP2(30008), LRP2(4036), PORCN(64840), LOX(4015), HYLS1(219844), STRA6(64220), PLOD3(8985), WT1(7490), NIPBL(25836), EFNB1(1947), MTM1(4534), IGHMBP2(3508), CHRNG(1146), FBLN5(10516), C20orf54(113278), GAA(2548), WNT3(7473)]
ABNORMALITY OF THE DIAPHYSES(HP:0000940)	[TNFSF11(8600), LBR(3930), CA2(760), TBXAS1(6916), ANO5(203859), FLNA(2316), TGFB1(7040)]
ABNORMALITY OF THE DISTAL FEMORAL EPIPHYSIS(HP:0010590)	[IHH(3549), COL11A1(1301)]
ABNORMALITY OF THE DISTAL PHALANGES OF THE HAND(HP:0009832)	[TRPS1(7227), ARSE(415), TWIST1(7291), LMNA(4000), GGCX(2677), RPS6KA3(6197), MGP(4256), FGFR2(2263), H19(283120), FLNA(2316), ZMPSTE24(10269), GLI3(2737), NOG(9241), PHF6(84295), DSP(1832), HOXA13(3209), COL2A1(1280), IHH(3549), CANT1(124583), GPC3(2719), PCNT(5116), TFAP2B(7021), ROR2(4920), DDR2(4921), KDM5C(8242), HOXD13(3239), CTSC(1075), CHST3(9469), CTSK(1513), JAG1(182)]
ABNORMALITY OF THE DISTAL PHALANGES OF THE TOES(HP:0010182)	[NOG(9241), CANT1(124583)]
ABNORMALITY OF THE DISTAL PHALANX OF THE 5TH FINGER(HP:0004225)	[TFAP2B(7021), H19(283120)]
ABNORMALITY OF THE DISTAL PHALANX OF THE HALLUX(HP:0010053)	[CANT1(124583)]
ABNORMALITY OF THE DISTAL PHALANX OF THE THUMB(HP:0009617)	[SLC26A2(1836), FLNB(2317), CANT1(124583), GLI3(2737)]
ABNORMALITY OF THE DUODENUM(HP:0002246)	[MYCN(4613), SALL1(6299), GATA1(2623), PLG(5340), SEMA3E(9723), CHD7(55636), DCR(1637)]
ABNORMALITY OF THE EARS(HP:0000598)	[FBN1(2200), FBN2(2201), FKRP(79147), SUCLA2(8803), VPS33B(26276), CCBE1(147372), HSD17B4(3295), H19(283120), SLC16A2(6567), SLC35C1(55343), KCNQ1OT1(10984), HRAS(3265), SNAI2(6591), CDH23(64072), COQ2(27235), FANCD2(2177), FANCC(2176), CTSA(5476), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), TMC1(117531), NOD2(64127), B3GALTL(145173), SLC6A8(6535), POU3F4(5456), SLC29A3(55315), ACOX1(51), FKTN(2218), C20orf7(79133), MPZ(4359), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), TNFRSF11A(8792), ACTB(60), ACTG1(71), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN1C(1028), POLG(5428), FGF10(2255), SOS1(6654), FGF3(2248), HOXA11(3207), CECR(1055), POLA1(5422), FGD1(2245), ACY1(95), GDF6(392255), ACVR1(90), C8orf38(137682), FOXI1(2299), SMCR(6600), FOXC1(2296), ICK(22858), NDUFA11(126328), FASTKD2(22868), SPRED1(161742), PMP22(5376), SMS(6611), ERCC2(2068), TRIM32(22954), ERCC3(2071), EYA4(2070), PHOX2B(8929), PRPS1(5631), STRA6(64220), ERCC6(2074), MAP2K1(5604), SGSH(6448), MAP2K2(5605), ADSL(158), MAPK10(5602), HOXA2(3199), ETFDH(2110), ETFB(2109), ETFA(2108), COL1A2(1278), ZNF469(84627), KIAA1279(26128), COL1A1(1277), JAG1(182), RAB3GAP1(22930), XPA(7507), WHCR(7467), WFS1(7466), SQSTM1(8878), SEPT9(10801), WHSC1(7468), ERCC8(1161), CEP290(80184), MVK(4598), EYA1(2138), MED12(9968), HGD(3081), HGF(3082), BEAN(146227), WNT3(7473), ABCD1(215), EVC(2121), PCDH15(65217), CLCNKA(1187), FRAS1(80144), MFN2(9927), CLCNKB(1188), FANCA(2175), VHL(7428), WAS(7454), NSD1(64324), ESCO2(157570), USH2A(7399), SLC4A11(83959), ALX3(257), COX15(1355), GNE(10020), SC5DL(6309), CLRN1(7401), UQCRB(7381), UPK3A(7380), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), IL2RG(3561), DCAF17(80067), C10orf2(56652), SLC25A4(291), CREBBP(1387), SLC12A6(9990), CPT2(1376), MAN2B1(4125), MANBA(4126), SDHD(6392), SDHC(6391), SDHB(6390), SDHA(6389), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), COL5A2(1290), COL6A1(1291), COL4A6(1288), COL5A1(1289), IGF1(3479), IGBP1(3476), COL6A2(1292), COL6A3(1293), PDSS1(23590), USH1C(10083), COL2A1(1280), FUCA1(2517), COL3A1(1281), COL4A4(1286), COL4A5(1287), PQBP1(10084), SLC26A4(5172), TTC8(123016), PEX26(55670), COL4A3(1285), COX6B1(1340), PLOD3(8985), TYR(7299), GAA(2548), ATPAF2(91647), CHD7(55636), ARSB(411), ARSE(415), LARGE(9215), TWIST1(7291), RPS6KA3(6197), MGP(4256), BRWD3(254065), GRHL2(79977), FLNA(2316), FLNB(2317), IDS(3423), TTR(7276), MITF(4286), PMM2(5373), NKX2-5(1482), FMR1(2332), ASPA(443), TRIOBP(11078), L2HGDH(79944), CFI(3426), CTSD(1509), ASCL1(429), ARX(170302), PLG(5340), MGAT2(4247), PLEC(5339), HSPG2(3339), TRPS1(7227), CD96(10225), ATP1A2(477), ATIC(471), LMBRD1(55788), KCNQ4(9132), ALG3(10195), PHEX(5251), HYAL1(3373), DCLRE1C(64421), FTO(79068), HYLS1(219844), PHYH(5264), MMP2(4313), TPM2(7169), G6PC3(92579), SH3TC2(79628), RET(5979), ATRX(546), ATR(545), TGFB1(7040), GLI3(2737), DCR(1637), RDX(5962), NOG(9241), THRB(7068), CRLF1(9244), MYO15A(51168), GLB1(2720), TK2(7084), SBF2(81846), GPC3(2719), CRTAP(10491), SEC23A(10484), ATP6V1B1(525), ROR2(4920), GJB2(2706), MARVELD2(153562), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), KCNQ1(3784), KCNJ10(3766), NDUFS7(374291), KCNJ11(3767), MKKS(8195), NDRG1(10397), RAPSN(5913), GDF5(8200), BCS1L(617), BDNF(627), AAAS(8086), GNS(2799), RAG2(5897), RAG1(5896), KCNJ2(3759), KCNJ1(3758), GPR98(84059), OPA1(4976), ABHD5(51099), GNAS(2778), BBS1(582), BBS2(583), OPHN1(4983), TNNI2(7136), BBS4(585), NDUFAF4(29078), TNNT3(7140), NIPBL(25836), SDHAF2(54949), BBS10(79738), CCND1(595), ZFPM2(23414), SNAP29(9342), KDM5C(8242), TMEM70(54968), FAM123B(139285), DOK7(285489), BTD(686), PLA2G6(8398), TMPRSS3(64699), TBX15(6913), ARL6(84100), GATA1(2623), TCF4(6925), BRAF(673), B4GALT7(11285), BUB1B(701), BTK(695), LHX3(8022), TCIRG1(10312), DNMT3B(1789), TCOF1(6949), DIAPH1(1729), GALC(2581), BMP4(652), GALE(2582), OTOF(9381), BCOR(54880), GALNS(2588), DLD(1738), BLM(641), MYH14(79784), FOXL2(668), MKS1(54903), C20orf54(113278), RECQL4(9401), MRPS16(51021), DMP1(1758), POMT2(29954), INSR(3643), EHMT1(79813), TNFRSF13B(23495), PAX3(5077), ZMPSTE24(10269), PAX2(5076), INS(3630), DHCR24(1718), DHCR7(1717), GDF1(2657), DGCR(1714), AHI1(54806), FAM20C(56975), TECTA(7007), PAK3(5063), GDNF(2668), ITM2B(9445), COQ9(57017), HGSNAT(138050), GCK(2645), PCNT(5116), CLCF1(23529), PTPRQ(374462), SOST(50964), CHST14(113189), TIMM8A(1678), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), GATA3(2625), DFNA5(1687), ATP6V0A2(23545), GBA(2629), ARHGEF6(9459), CHST3(9469), APTX(54840), CABC1(56997), MYCN(4613), GUSB(2990), BBS5(129880), SALL4(57167), MYH3(4621), EDN3(1908), EDNRB(1910), GUCY2D(3000), USH1G(124590), MYH9(4627), TYMP(1890), MYO7A(4647), LRP2(4036), LRP5(4041), PTEN(5728), SURF1(6834), ABCC8(6833), CACNA1A(773), AP3B1(8546), RAI1(10743), NAGA(4668), RAB23(51715), PTH1R(5745), NAGLU(4669), ICOS(29851), HCCS(3052), NBN(4683), PRPS2(5634), LMX1B(4010), SLC26A2(1836), PDSS2(57107), PHF6(84295), NDP(4693), BSND(7809), DSPP(1834), NDUFA1(4694), NDUFA2(4695), NEB(4703), ANKH(56172), TBCE(6905), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), LIFR(3977), RUNX2(860), EBP(10682), NDUFS3(4722), TAP1(6890), NDUFV1(4723), TAP2(6891), NDUFS2(4720), OFD1(8481), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), TAPBP(6892), NDUFS8(4728), HSD17B10(3028), PEX19(5824), EP300(2033), ABCD3(5825), SLC19A2(10560), PEX2(5828), PEX5(5830), PYCR1(5831), NDUFAF2(91942), SOX10(6663), SOX9(6662), SOX2(6657), NF1(4763), UQCRQ(27089), NSDHL(50814), NEU1(4758), POMT1(10585), NDUFAF3(25915), NF2(4771), LBR(3930), NHS(4810), DNAI1(27019), PTPN11(5781), FREM2(341640), RNASET2(8635), ADAMTSL2(9719), NLRP3(114548), TP63(8626), KRAS(3845), SUMF1(285362), MMACHC(25974), SEMA3E(9723), PNP(4860), PVRL1(5818), SPTLC1(10558)]
ABNORMALITY OF THE ELBOW(HP:0009811)	[FBN1(2200), PEX19(5824), ABCD3(5825), FBN2(2201), PEX2(5828), NPR2(4882), LARGE(9215), PEX5(5830), TBX15(6913), ATR(545), SALL4(57167), NSD1(64324), ERCC6(2074), FLNA(2316), GLI3(2737), FLNB(2317), ESCO2(157570), NOG(9241), HRAS(3265), MATN3(4148), CRLF1(9244), PEX10(5192), PEX14(5195), PEX13(5194), EMD(2010), PEX1(5189), B3GALTL(145173), DDR2(4921), GJB2(2706), GJA1(2697), CHRNG(1146), POR(5447), SIL1(64374), RECQL4(9401), CPT2(1376), ATP7A(538), CD96(10225), COMP(1311), LMNA(4000), RAPSN(5913), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), MMP13(4322), LMX1B(4010), SLC26A2(1836), PTPN11(5781), RMRP(6023), COL6A1(1291), SOS1(6654), HOXA11(3207), COL6A2(1292), COL6A3(1293), GPC6(10082), COL2A1(1280), WNT7A(7476), PEX26(55670), VPS13B(157680), CLCF1(23529), PEX3(8504), PLOD3(8985), SUMF1(285362), NIPBL(25836), TFAP2A(7020), SHOX(6473), LIFR(3977), DOK7(285489), TPM2(7169), CHST3(9469)]
ABNORMALITY OF THE ENDOCARDIUM(HP:0004306)	[PRKAR1A(5573), SP110(3431), PDGFRA(5156)]
ABNORMALITY OF THE ENTERIC GANGLIA(HP:0004362)	[MKKS(8195), RET(5979), BBS5(129880), TRIM32(22954), ZEB2(9839), ARL6(84100), GATA1(2623), SALL4(57167), PHOX2B(8929), CEP290(80184), BBS12(166379), EDN3(1908), PAX3(5077), EDNRB(1910), DCR(1637), BDNF(627), RMRP(6023), SOX10(6663), DHCR7(1717), L1CAM(3897), SNAI2(6591), BBS9(27241), GDNF(2668), TTC8(123016), BBS1(582), BBS2(583), BBS4(585), SLC6A8(6535), BBS10(79738), MKS1(54903), BBS7(55212), ASCL1(429), MBTPS2(51360), KIAA1279(26128)]
ABNORMALITY OF THE EPIDIDYMIS(HP:0009714)	[CCND1(595), DHH(50846), BTK(695), UNG(7374), VHL(7428)]
ABNORMALITY OF THE EPIGLOTTIS(HP:0005483)	[FOXE1(2304), GLI3(2737)]
ABNORMALITY OF THE EPIPHYSES(HP:0005930)	[PEX19(5824), RET(5979), TBX4(9496), NPR2(4882), ARSE(415), PEX5(5830), ATR(545), AGPS(8540), MGP(4256), VDR(7421), ERCC6(2074), FLNA(2316), THRB(7068), MATN3(4148), PAPSS2(9060), NSDHL(50814), IHH(3549), NEU1(4758), GLB1(2720), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), GALNS(2588), PEX7(5191), DDR2(4921), LBR(3930), GNPAT(8443), ACAN(176), BMPR1B(658), TRAPPC2(6399), HSPG2(3339), TRPS1(7227), WHCR(7467), COMP(1311), WHSC1(7468), GGCX(2677), ERCC8(1161), COL9A3(1299), EVC2(132884), COL9A2(1298), FGFR3(2261), GDF5(8200), COL9A1(1297), MMP13(4322), COL11A2(1302), COL11A1(1301), CYP2R1(120227), SLC26A2(1836), RMRP(6023), CYP27B1(1594), SBDS(51119), HOXA13(3209), DYM(54808), COL2A1(1280), EVC(2121), PEX26(55670), SMARCAL1(50485), ADAMTSL2(9719), CLCN5(1184), PCNT(5116), WISP3(8838), PEX3(8504), PLOD3(8985), SLC39A13(91252), SUMF1(285362), EIF2AK3(9451), RUNX2(860), EBP(10682), SLC34A3(142680), GNPTG(84572)]
ABNORMALITY OF THE EPIPHYSES OF THE 2ND FINGER(HP:0006263)	[GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSES OF THE 3RD FINGER(HP:0009320)	[GDF5(8200)]
ABNORMALITY OF THE EPIPHYSES OF THE 5TH FINGER(HP:0009152)	[GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSES OF THE DISTAL PHALANGES OF THE HAND(HP:0010243)	[TRPS1(7227)]
ABNORMALITY OF THE EPIPHYSES OF THE HAND(HP:0005924)	[TRPS1(7227), WHCR(7467), SALL1(6299), NPR2(4882), WHSC1(7468), PCNT(5116), ATR(545), ERCC8(1161), FGFR3(2261), EVC2(132884), MGP(4256), GDF5(8200), ERCC6(2074), FLNA(2316), EIF2AK3(9451), RUNX2(860), RMRP(6023), DYM(54808), COL2A1(1280), IHH(3549), EVC(2121), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSES OF THE MIDDLE PHALANGES OF THE HAND(HP:0010244)	[TRPS1(7227), GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0005920)	[TRPS1(7227), NPR2(4882), ATR(545), ERCC8(1161), FGFR3(2261), EVC2(132884), MGP(4256), GDF5(8200), ERCC6(2074), FLNA(2316), EIF2AK3(9451), RUNX2(860), RMRP(6023), DYM(54808), COL2A1(1280), IHH(3549), EVC(2121), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSES OF THE PROXIMAL PHALANGES OF THE HAND(HP:0010245)	[TRPS1(7227), GDF5(8200), IHH(3549)]
ABNORMALITY OF THE EPIPHYSES OF THE THUMB(HP:0009599)	[IHH(3549)]
ABNORMALITY OF THE EPIPHYSIS OF THE 1ST METACARPAL(HP:0010014)	[IHH(3549)]
ABNORMALITY OF THE EPIPHYSIS OF THE FEMORAL HEAD(HP:0010574)	[SMARCAL1(50485), TRAPPC2(6399), RET(5979), ADAMTSL2(9719), TBX4(9496), TRPS1(7227), PCNT(5116), WISP3(8838), PLOD3(8985), SLC39A13(91252), COL11A2(1302), SLC26A2(1836), SBDS(51119), MATN3(4148), DYM(54808), GNPTG(84572), ACAN(176), COL2A1(1280), IHH(3549)]
ABNORMALITY OF THE EPIPHYSIS OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009500)	[GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSIS OF THE MIDDLE PHALANX OF THE 3RD FINGER(HP:0009334)	[GDF5(8200)]
ABNORMALITY OF THE EPIPHYSIS OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0004224)	[GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSIS OF THE PROXIMAL PHALANX OF THE 2ND FINGER(HP:0009501)	[GDF5(8200)]
ABNORMALITY OF THE EPIPHYSIS OF THE PROXIMAL PHALANX OF THE 3RD FINGER(HP:0009333)	[GDF5(8200)]
ABNORMALITY OF THE ESOPHAGUS(HP:0002031)	[MYCN(4613), FBN1(2200), CHAT(1103), ATRX(546), ATXN8(724066), DDC(1644), SETX(23064), MAPT(4137), REEP1(65055), ATXN7(6314), ATXN8OS(6315), IKBKAP(8518), NPHS1(4868), KIT(3815), MYH8(4626), NPC1(4864), MATR3(9782), ATXN1(6310), ATXN2(6311), CHRNA1(1134), COLQ(8292), SALL1(6299), PRKRA(8575), NUP62(23636), GJB1(2705), ACOX1(51), SLC9A6(10479), CACNA1A(773), MPZ(4359), CHRNE(1145), CHRND(1144), ATP7B(540), ACTA1(58), CHRNB1(1140), ACTB(60), RAPSN(5913), NHP2(55651), MECP2(4204), FGFR2(2263), POLG(5428), PDP1(54704), PDGFRA(5156), PSAP(5660), AAAS(8086), PSEN1(5663), GNS(2799), COL7A1(1294), ATXN10(25814), SOD1(6647), FTL(2512), NEB(4703), PTRF(284119), HPRT1(3251), TBP(6908), NIPBL(25836), PABPN1(8106), LIFR(3977), WNK1(65125), LIPA(3988), PANK2(80025), HOXD13(3239), FAM123B(139285), AR(367), CHD7(55636), PRNP(5621), PLA2G6(8398), DMPK(1760), PYCR1(5831), SCARB2(950), SPG7(6687), BRAF(673), CTNS(1497), MAP2K1(5604), SLC19A3(80704), MAP2K2(5605), ITGB4(3691), MID1(4281), SOX2(6657), NPC2(10577), ATXN3(4287), MAPK10(5602), ALS2(57679), SPG11(80208), VPS13A(23230), QDPR(5860), PKHD1(5314), TSPYL1(7259), DKC1(1736), ARX(170302), C20orf54(113278), PRKCG(5582), ITGA6(3655), ATP1A3(478), WHCR(7467), WFS1(7466), CD96(10225), WHSC1(7468), MUSK(4593), RMRP(6023), DHCR7(1717), CLCN1(1180), NOP10(55505), GCH1(2643), KRAS(3845), PTS(5805), TIMM8A(1678), TFAP2A(7020), SEMA3E(9723), GBA(2629), MCEE(84693), GBE1(2632), TPM3(7170), PNKD(25953)]
ABNORMALITY OF THE EXTRAOCULAR MUSCLES(HP:0008049)	[TUBB3(10381), KIF21A(55605), PHOX2A(401)]
ABNORMALITY OF THE EXTREMITIES(HP:0002813)	[FBN1(2200), FBN2(2201), FKRP(79147), VPS33B(26276), SACS(26278), CCBE1(147372), FBLN1(2192), HSD17B4(3295), REEP1(65055), H19(283120), DPM1(8813), SLC16A2(6567), ABCA1(19), HRAS(3265), HESX1(8820), FANCD2(2177), FANCC(2176), PPIB(5479), MATR3(9782), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), NOD2(64127), LYST(1130), HSPB1(3315), B3GALTL(145173), SLC6A8(6535), SLC29A3(55315), MPZ(4359), CHRNG(1146), CHRND(1144), POR(5447), ACTA1(58), ACTB(60), SNRPN(6638), UPF3B(65109), FGFR1(2260), FGFR3(2261), FGFR2(2263), CDKN1B(1027), BBS12(166379), POLG(5428), FGF14(2259), FAM134B(54463), FGF10(2255), SOS1(6654), HSPB8(26353), HOXA11(3207), CECR(1055), HOXA13(3209), FGD1(2245), ACVRL1(94), ACVR1(90), HPRT1(3251), HPGD(3248), SMCR(6600), SFTPA2(729238), ICK(22858), WNK1(65125), TRPV4(59341), HOXD13(3239), HOXD10(3236), CUL7(9820), CTSC(1075), GNPTG(84572), PMP22(5376), SMS(6611), FHL1(2273), ABCA12(26154), TRIM32(22954), SFTPB(6439), CCT5(22948), SFTPC(6440), SGCB(6443), PRPS1(5631), SGCA(6442), ERCC6(2074), SGCG(6445), KIAA0196(9897), MTM1(4534), MAP2K1(5604), MAP2K2(5605), SPG11(80208), MTMR2(8898), FGD4(121512), PRKAR1A(5573), MIPOL1(145282), COL1A2(1278), ACAN(176), KIAA1279(26128), COL1A1(1277), JAG1(182), CNTN1(1272), GJB6(10804), EXT2(2132), WHCR(7467), WFS1(7466), WHSC1(7468), EXT1(2131), ERCC8(1161), CEP290(80184), EYA1(2138), MED12(9968), WNT10B(7480), HGD(3081), WNT3(7473), GDAP1(54332), WNT7A(7476), EVC(2121), PHGDH(26227), SMARCAL1(50485), FRAS1(80144), CLCN5(1184), MFN2(9927), VLDLR(7436), FANCA(2175), WISP3(8838), SLC39A13(91252), SHOX(6473), ALDH3A2(224), ALPL(249), VRK1(7443), LEPRE1(64175), VCP(7415), NSD1(64324), LMBR1(64327), VDR(7421), FERMT1(55612), ESCO2(157570), ALX3(257), MATN3(4148), PAPSS2(9060), GNE(10020), IHH(3549), SC5DL(6309), SALL1(6299), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), AIP(9049), PEX1(5189), PEX7(5191), UROS(7390), GNASAS(149775), PFKM(5213), SLC17A5(26503), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), MAN2B1(4125), TRAPPC2(6399), COMP(1311), COL17A1(1308), COL9A3(1299), COL9A2(1298), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), PDGFRA(5156), COL5A2(1290), COL6A1(1291), COL5A1(1289), COL7A1(1294), IGF1(3479), COL6A2(1292), COL6A3(1293), GPC6(10082), IGF1R(3480), COL2A1(1280), COL3A1(1281), MEN1(4221), PQBP1(10084), TTC8(123016), PEX26(55670), BSCL2(26580), VPS13B(157680), PLOD3(8985), PANK2(80025), IGHMBP2(3508), TYROBP(7305), AR(367), CHD7(55636), ARSB(411), PLOD1(5351), ARSE(415), LARGE(9215), TWIST1(7291), RPS6KA3(6197), MGP(4256), BRWD3(254065), PLP1(5354), FLNA(2316), PLOD2(5352), CTNS(1497), FLNB(2317), IDS(3423), SLC33A1(9197), TTN(7273), NKX2-5(1482), FMR1(2332), AP4M1(9179), ARX(170302), CTSK(1513), MGAT2(4247), CTDP1(9150), HSPG2(3339), MBD5(55777), TRPS1(7227), CD96(10225), RYR1(6261), MMP13(4322), CRYAB(1410), PITX1(5307), PRG4(10216), FXN(2395), ALG3(10195), PHEX(5251), FTO(79068), HYLS1(219844), PHYH(5264), MMP2(4313), ATP2A2(488), TPM2(7169), RPS19(6223), TPM3(7170), SH3TC2(79628), RET(5979), NPR2(4882), ATRX(546), TGFBR2(7048), ATR(545), TGFBR1(7046), GAN(8139), DCTN1(1639), TGFB1(7040), GLI3(2737), DCR(1637), B2M(567), NOG(9241), KIT(3815), CRLF1(9244), ADAMTS10(81794), RPGRIP1L(23322), EMG1(10436), GLB1(2720), SBF2(81846), GLA(2717), GPC3(2719), KIF5A(3798), NTRK1(4914), DYSF(8291), CRTAP(10491), SEC23A(10484), ROR2(4920), GJB1(2705), DDR2(4921), GJB2(2706), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), GHR(2690), ATP7A(538), KCNJ11(3767), MKKS(8195), FBXO7(25793), GPR56(9289), NDRG1(10397), RAPSN(5913), GDF5(8200), OCRL(4952), FGF23(8074), CYP27B1(1594), TUBB3(10381), SBDS(51119), KCNJ2(3759), GNAS(2778), TRIP11(9321), TNFRSF11B(4982), BBS1(582), KAL1(3730), BBS2(583), TNNI2(7136), BBS4(585), TNNT3(7140), KCNA1(3736), NIPBL(25836), BBS10(79738), ZFPM2(23414), KDM5C(8242), FAM123B(139285), DOK7(285489), PLA2G6(8398), ATL1(51062), TBX15(6913), ARL6(84100), GATA1(2623), TBX3(6926), TCF4(6925), BRAF(673), GARS(2617), B4GALT7(11285), ITGB4(3691), HNF1B(6928), ALS2(57679), TREX1(11277), DNM2(1785), ZFYVE27(118813), BMP4(652), BCOR(54880), GALNS(2588), IRF6(3664), BLM(641), PRX(57716), MKS1(54903), C20orf54(113278), GNPAT(8443), RECQL4(9401), MRPS16(51021), DMD(1756), BMPR1A(657), BMPR1B(658), ZFYVE26(23503), EHMT1(79813), INSR(3643), GGCX(2677), CYP7B1(9420), PAX3(5077), ZMPSTE24(10269), INS(3630), DHCR24(1718), RMRP(6023), DHCR7(1717), GDF1(2657), DYM(54808), SH3PXD2B(285590), GCK(2645), PCNT(5116), CLCF1(23529), SHFM1(7979), SOST(50964), CHST14(113189), TF(7018), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), DES(1674), ATP6V0A2(23545), GBA(2629), CHST3(9469), APTX(54840), MYCN(4613), TBX4(9496), MYOT(9499), GUSB(2990), BBS5(129880), SLURP1(57152), SALL4(57167), MYH3(4621), SETX(23064), AGPS(8540), CAPN3(825), CDKL5(6792), MYH7(4625), MYH8(4626), STK11(6794), RAB7A(7879), PTCH1(5727), SMAD4(4089), IFT80(57560), CANT1(124583), BAG3(9531), NIPA1(123606), YARS(8565), KIF1B(23095), LRP5(4041), PTEN(5728), ABCC8(6833), CACNA1C(775), LITAF(9516), RAI1(10743), PTHLH(5744), RAB23(51715), PTH1R(5745), TCAP(8557), ADAMTS2(9509), LMNA(4000), EVC2(132884), CYP2R1(120227), PRPS2(5634), LMX1B(4010), SLC26A2(1836), SPG20(23111), CUL4B(8450), NDN(4692), PHF6(84295), DSP(1832), TREM2(54209), CBS(875), ANKH(56172), TBCE(6905), TBX5(6910), CAV3(859), TBX1(6899), PORCN(64840), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), DPYS(1807), OFD1(8481), BBS7(55212), ALMS1(7840), MOGS(7841), DPAGT1(1798), HSD17B10(3028), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), PEX5(5830), NEFL(4747), SPG7(6687), RBM28(55131), SOX10(6663), SOX9(6662), NF1(4763), ENG(2022), NSDHL(50814), SLC35D1(23169), ANO5(203859), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), LAMC2(3918), EMD(2010), LAMA3(3909), LBR(3930), LAMP2(3920), STX16(8675), TNFSF11(8600), NHS(4810), ZBTB16(7704), NGF(4803), CDH3(1001), PTPN11(5781), EGR2(1959), L1CAM(3897), FREM2(341640), ADAMTSL2(9719), TP63(8626), KRAS(3845), EFNB1(1947), SUMF1(285362), SEMA3E(9723), SSTR5(6755), SLC34A3(142680), AGPAT2(10555), PVRL1(5818), SPTLC1(10558)]
ABNORMALITY OF THE EYEBROW(HP:0000534)	[EP300(2033), RET(5979), SPINK5(11005), RPS6KA3(6197), EDN3(1908), BRAF(673), EDARADD(128178), EDNRB(1910), MAP2K1(5604), SGSH(6448), EDA(1896), MAP2K2(5605), SOX10(6663), MITF(4286), DOLK(22845), GNE(10020), GNPTAB(79158), SAT1(6303), BCOR(54880), SOX18(54345), SLC9A6(10479), GJA1(2697), ARX(170302), CREBBP(1387), KIAA1279(26128), NAGLU(4669), WNT10A(80326), MAN2B1(4125), TRPS1(7227), GJB6(10804), WHCR(7467), EHMT1(79813), WHSC1(7468), FGFR1(2260), INPP5E(56623), KRT17(3872), PAX3(5077), CDH3(1001), RMRP(6023), GNS(2799), DSP(1832), AHI1(54806), FUCA1(2517), FREM2(341640), EDAR(10913), HR(55806), KRT6B(3854), FRAS1(80144), ST14(6768), HGSNAT(138050), VPS13B(157680), TP63(8626), KRAS(3845), TFAP2B(7021), NIPBL(25836), EBP(10682), PVRL1(5818)]
ABNORMALITY OF THE EYELASHES(HP:0000499)	[HSPG2(3339), GJB6(10804), EP300(2033), CLDN1(9076), NHP2(55651), EDN3(1908), BRAF(673), PAX3(5077), ZMPSTE24(10269), EDARADD(128178), EDNRB(1910), MAP2K1(5604), EDA(1896), CDH3(1001), MAP2K2(5605), RMRP(6023), SOX10(6663), DSP(1832), MITF(4286), DOLK(22845), FREM2(341640), EDAR(10913), HR(55806), NOP10(55505), TCOF1(6949), FRAS1(80144), FOXC2(2303), ST14(6768), SAT1(6303), SOX18(54345), TP63(8626), DKC1(1736), KRAS(3845), ROR2(4920), NIPBL(25836), GJB2(2706), EBP(10682), GJA1(2697), MOGS(7841), CREBBP(1387), PUS1(80324), PVRL1(5818)]
ABNORMALITY OF THE EYELID(HP:0000492)	[FBN1(2200), DDB2(1643), RET(5979), ATRX(546), ATR(545), CCBE1(147372), HSD17B4(3295), DPM1(8813), EDARADD(128178), GLI3(2737), DCR(1637), ABCA1(19), ABAT(18), HRAS(3265), SNAI2(6591), DOLK(22845), GNPTAB(79158), CHRNA1(1134), GPC3(2719), B3GALTL(145173), ROR2(4920), GJB2(2706), MCPH1(79648), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRND(1144), PUS1(80324), SNRPN(6638), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), POLH(5429), BDNF(627), FGF10(2255), SOS1(6654), CYP27A1(1593), CECR(1055), FGD1(2245), KCNJ2(3759), EDAR(10913), ABHD5(51099), FOXC2(2303), TNNI2(7136), TNNT3(7140), NIPBL(25836), SNAP29(9342), KDM5C(8242), FAM123B(139285), DOK7(285489), SPRED1(161742), SMPD1(6609), ABCA12(26154), ERCC2(2068), TBX15(6913), PHOX2B(8929), GATA1(2623), PRPS1(5631), STRA6(64220), ERCC6(2074), BRAF(673), MAP2K1(5604), ITGB4(3691), MAP2K2(5605), BUB1B(701), MAPK10(5602), DNMT3B(1789), TCOF1(6949), BCOR(54880), SOX18(54345), IRF6(3664), DKC1(1736), PARK7(11315), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), RECQL4(9401), XPC(7508), PDHX(8050), ZNF469(84627), KIAA1279(26128), COL1A1(1277), XPA(7507), ITGA6(3655), GJB6(10804), WHCR(7467), EHMT1(79813), SEPT9(10801), WHSC1(7468), MVK(4598), PAX3(5077), ZMPSTE24(10269), MED12(9968), DHCR24(1718), RMRP(6023), DHCR7(1717), DGCR(1714), RAX(30062), AHI1(54806), GDNF(2668), NOP10(55505), FRAS1(80144), PCNT(5116), CHST14(113189), SLC39A13(91252), TFAP2A(7020), ALDOA(226), EIF2AK3(9451), ATP6V0A2(23545), MYCN(4613), CLDN1(9076), SALL4(57167), MYH3(4621), NSD1(64324), MAPT(4137), EDN3(1908), EDNRB(1910), EDA(1896), ESCO2(157570), CP(1356), ALX3(257), GNE(10020), SC5DL(6309), SLC2A10(81031), PEX10(5192), SAT1(6303), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), PTEN(5728), AP3B1(8546), SLC17A5(26503), CREBBP(1387), RAB23(51715), MAN2B1(4125), TOR1A(1861), ADAMTS2(9509), APOB(338), APOA2(336), NBN(4683), INPP5E(56623), NHP2(55651), COL11A1(1301), PRPS2(5634), COL5A2(1290), COL5A1(1289), LPL(4023), NDN(4692), DSP(1832), PHF6(84295), IGBP1(3476), GPC6(10082), FTL(2512), PEX26(55670), PQBP1(10084), VPS13B(157680), TBX1(6899), IL1RAPL1(11141), PEX3(8504), LIFR(3977), EBP(10682), LIPA(3988), PANK2(80025), OFD1(8481), MOGS(7841), CHD7(55636), PEX19(5824), EP300(2033), PLOD1(5351), ABCD3(5825), PEX2(5828), LDLR(3949), PEX5(5830), RPS6KA3(6197), PYCR1(5831), FLNA(2316), SOX10(6663), MID1(4281), SOX9(6662), MITF(4286), TTPA(7274), ASCL1(429), HSPG2(3339), CD96(10225), LMBRD1(55788), CDH3(1001), PTPN11(5781), FREM2(341640), HR(55806), ADAMTSL2(9719), ST14(6768), ALG3(10195), TP63(8626), KRAS(3845), EFNB1(1947), SEMA3E(9723), TPM2(7169), RPS19(6223), PVRL1(5818)]
ABNORMALITY OF THE EYES(HP:0000478)	[FBN1(2200), ADAMTSL4(54507), FBN2(2201), EFEMP1(2202), SUCLA2(8803), TINF2(26277), SPINK5(11005), SACS(26278), CCBE1(147372), DPM1(8813), EDARADD(128178), SLC16A2(6567), KCNQ1OT1(10984), ABCA1(19), ABAT(18), HESX1(8820), SNAI2(6591), FANCD2(2177), FANCC(2176), ABCA4(24), FANCE(2178), ACADS(35), ACADSB(36), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPZ(4359), MPV17(4358), PUS1(80324), ACTA1(58), WNT10A(80326), ACTB(60), SNRPN(6638), FH(2271), FGFR1(2260), FGFR3(2261), FGFR2(2263), FGF14(2259), FGF10(2255), SOS1(6654), FGD1(2245), ACY1(95), ACVRL1(94), EDAR(10913), FOXC2(2303), FOXE3(2301), FOXC1(2296), NDUFA11(126328), TRPV4(59341), WNK1(65125), SMS(6611), TUBB2B(347733), SMPD1(6609), ERBB3(2065), ABCA12(26154), ERCC2(2068), ERCC3(2071), PHOX2B(8929), ERCC6(2074), MTM1(4534), SGSH(6448), BLOC1S3(388552), SH3BP2(6452), TMEM67(91147), ADSL(158), CLN8(2055), MFRP(83552), PRPF31(26121), MFSD8(256471), AGA(175), SPG11(80208), SOX18(54345), ETFDH(2110), ETFB(2109), ETFA(2108), AGXT(189), AGL(178), KIAA1279(26128), OPA3(80207), JAG1(182), GJB6(10804), SEPT9(10801), SIX3(6496), ST3GAL5(8869), CEP290(80184), MVK(4598), MUSK(4593), EYA1(2138), EIF2B2(8892), EIF2B5(8893), TRIM37(4591), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), ABCD1(215), EVC(2121), PHGDH(26227), PCDH15(65217), SMARCAL1(50485), FRAS1(80144), SHH(6469), PROM1(8842), FANCA(2175), TSEN54(283989), SLC39A13(91252), ALDOA(226), ALDH3A2(224), ALPL(249), MTTP(4547), BIN1(274), SCN9A(6335), CLDN1(9076), SCN1A(6323), ANCR(282), HPS5(11234), MAPT(4137), POLG2(11232), SLC6A19(340024), ATXN7(6314), ATXN8OS(6315), SLC4A11(83959), ALX3(257), ATXN1(6310), ATXN2(6311), SC5DL(6309), SALL1(6299), SAT1(6303), NUP62(23636), SAG(6295), C10orf2(56652), SLC25A4(291), SLC17A5(26503), CNNM4(26504), MAN2B1(4125), MANBA(4126), TRAPPC2(6399), SLC6A20(54716), APOB(338), CNGB3(54714), SDHD(6392), APOA2(336), SDHB(6390), INPP5E(56623), SDHA(6389), MECP2(4204), APOE(348), PDP1(54704), APOC2(344), AIRE(326), APC(324), PIKFYVE(200576), PDSS1(23590), APOA1(335), FUCA1(2517), FTL(2512), CHST6(4166), SLC37A4(2542), ABCC6(368), G6PC(2538), IL1RAPL1(11141), PLOD3(8985), PANK2(80025), ARSA(410), ARSB(411), ARSE(415), LARGE(9215), STS(412), RPS6KA3(6197), PHOX2A(401), FLNA(2316), FLNB(2317), MID1(4281), ATXN3(4287), MITF(4286), ASPA(443), AP4M1(9179), OSMR(9180), KERA(11081), L2HGDH(79944), ASAH1(427), ASCL1(429), CTDP1(9150), ATP1A2(477), RYR1(6261), ATM(472), ATIC(471), RS1(6247), PRPF3(9129), FXN(2395), MOCS2(4338), MOCS1(4337), HYLS1(219844), MMP2(4313), HPS4(89781), RPS19(6223), TH(7054), AVP(551), MERTK(10461), AUH(549), TGIF1(7050), ATRX(546), ATXN8(724066), TGFBR2(7048), ATR(545), TGFBR1(7046), CLN6(54982), TGFBI(7045), TGFB1(7040), GLI3(2737), THRB(7068), NPHP1(4867), NPC1(4864), GLB1(2720), COLQ(8292), GLA(2717), GPC3(2719), NTRK1(4914), CRTAP(10491), SEC23A(10484), GK(2710), TIMP3(7078), ROR2(4920), DDR2(4921), GJB2(2706), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), GJA8(2703), GJA1(2697), ATP7B(540), PROKR2(128674), GHR(2690), SAR1B(51128), MKKS(8195), OPN1SW(611), FBXO7(25793), OCA2(4948), OCRL(4952), BCS1L(617), BDNF(627), COL18A1(80781), GNS(2799), ATXN10(25814), GPR143(4935), TUBB3(10381), TNFRSF1A(7132), OAT(4942), OPA1(4976), ABHD5(51099), GNAS(2778), BBS1(582), TNFRSF11B(4982), BBS2(583), OPHN1(4983), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), SIX6(4990), GM2A(2760), CCND1(595), KDM5C(8242), PLA2G6(8398), BTD(686), TBX15(6913), GATA1(2623), TBX3(6926), TCF4(6925), BRAF(673), SLC19A3(80704), BUB1B(701), GALT(2592), BTK(695), TCIRG1(10312), GALC(2581), PAH(5053), TCOF1(6949), BMP4(652), BCOR(54880), GALNS(2588), GALNT3(2591), GALK1(2584), BFSP2(8419), FOXL2(668), MKS1(54903), C20orf54(113278), GNPAT(8443), POMT2(29954), PAX6(5080), FZD4(8322), PAX3(5077), ZMPSTE24(10269), PAX2(5076), CA4(762), GPHN(10243), CA2(760), GDF1(2657), RAX(30062), CA8(767), AHI1(54806), FAM20C(56975), TEAD1(7003), SAMD9(54809), GDNF(2668), COQ9(57017), GCH1(2643), GCK(2645), PCNT(5116), TERC(7012), TERT(7015), SOST(50964), CHST14(113189), TFAP2B(7021), OPN1MW(2652), TFAP2A(7020), GBA(2629), APTX(54840), CABC1(56997), MYCN(4613), PITPNM3(83394), GUSB(2990), SALL4(57167), MYH3(4621), GJC2(57165), GUCA1A(2978), MYF6(4618), MYH11(4629), IKBKG(8517), IKBKAP(8518), GUCY2D(3000), CDKL5(6792), MYH8(4626), USH1G(124590), MYH9(4627), ELOVL4(6785), STIM1(6786), CANT1(124583), MYO7A(4647), MYOC(4653), MCOLN1(57192), SURF1(6834), ABCC8(6833), CACNA1A(773), AP3B1(8546), NAGA(4668), NAGLU(4669), SUOX(6821), ICOS(29851), CACNA1F(778), TAF1(6872), HCCS(3052), KRIT1(889), ALG6(29929), NYX(60506), NBN(4683), HTT(3064), PDSS2(57107), NDN(4692), NDP(4693), SPINT2(10653), NDUFA1(4694), NDUFA2(4695), CBS(875), HCRT(3060), NEB(4703), TBCE(6905), TBP(6908), ATCAY(85300), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), RUNX2(860), EBP(10682), NDUFS3(4722), TAP1(6890), NDUFV1(4723), TAP2(6891), HADHB(3032), NDUFS2(4720), OFD1(8481), BBS7(55212), NDUFS6(4726), CLDN16(10686), NDUFS4(4724), TAPBP(6892), UBIAD1(29914), AGRN(375790), NDUFS8(4728), HADHA(3030), CASR(846), HSD17B10(3028), PRSS12(8492), SLC4A4(8671), SLC19A2(10560), SPG7(6687), NDUFAF2(91942), SPAST(6683), SOX10(6663), SOX9(6662), NPC2(10577), SOX2(6657), NF1(4763), NEU1(4758), POMT1(10585), PRPF8(10594), NDUFAF3(25915), NF2(4771), SPTBN2(6712), SPR(6697), TNFSF11(8600), NHS(4810), GRM6(2916), CDH3(1001), GSN(2934), NME1(4830), GSS(2937), RNASET2(8635), ST14(6768), STAT3(6774), TP63(8626), MMACHC(25974), NOTCH3(4854), FKRP(79147), CHAT(1103), MMADHC(27249), HSD17B4(3295), H19(283120), DNAJC19(131118), HSD11B2(3291), HRAS(3265), CDH23(64072), COQ2(27235), CTSA(5476), DOLK(22845), PPIB(5479), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), NOD2(64127), LYST(1130), CHML(1122), SLC29A3(55315), CHM(1121), C20orf7(79133), HSF4(3299), CHRNG(1146), CHRNE(1145), POU1F1(5449), CHRND(1144), POR(5447), CHRNB1(1140), ZEB2(9839), BBS12(166379), CDKN1C(1028), POLG(5428), POLH(5429), CECR(1055), POLA1(5422), C8orf38(137682), CNBP(7555), HPGD(3248), HPS1(3257), FASTKD2(22868), CUL7(9820), GNPTG(84572), SPRED1(161742), PRNP(5621), TRIM32(22954), PRPS1(5631), ROBO3(64221), STRA6(64220), SEMA4A(64218), PROC(5624), MAP2K1(5604), MAP2K2(5605), ZIC1(7545), MAPK10(5602), FAM126A(84668), CNGA3(1261), CNGB1(1258), PRKAR1A(5573), COL1A2(1278), PRKCG(5582), RPIA(22934), XPC(7508), ZNF469(84627), COL1A1(1277), XPA(7507), RAB3GAP1(22930), CNTN1(1272), WHCR(7467), WFS1(7466), WHSC1(7468), ERCC8(1161), MED12(9968), HGD(3081), PPT1(5538), WRN(7486), BEAN(146227), WNT3(7473), HEXA(3073), HEXB(3074), CFH(3075), NOP10(55505), PPP2R2B(5521), FRMD7(90167), MFN2(9927), BEST1(7439), CLCNKB(1188), VLDLR(7436), VHL(7428), CLN5(1203), TPP1(1200), CLN3(1201), LEPRE1(64175), PGK1(5230), NSD1(64324), ESCO2(157570), USH2A(7399), CP(1356), COX15(1355), KIF21A(55605), GNE(10020), CLRN1(7401), UQCRB(7381), UPK3A(7380), CRX(1406), TMEM216(51259), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), UROS(7390), PEPD(5184), NR2E3(10002), SCO2(9997), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), PDHA1(5160), NHP2(55651), COL8A2(1296), PDE6B(5158), COL11A2(1302), COL11A1(1301), COL5A2(1290), COL4A6(1288), COL5A1(1289), COL7A1(1294), IGF1(3479), IGBP1(3476), GPC6(10082), COL4A1(1282), USH1C(10083), COL2A1(1280), UBE3A(7337), COL3A1(1281), COL4A5(1287), TTC8(123016), PEX26(55670), PQBP1(10084), POMGNT1(55624), VPS13B(157680), UBA1(7317), COX6B1(1340), PDE6C(5146), TYR(7299), TTBK2(146057), TYRP1(7306), CHD7(55636), SLC25A15(10166), PLOD1(5351), TWIST1(7291), TULP1(7287), PLP1(5354), CTNS(1497), IDS(3423), TTR(7276), TTPA(7274), TTN(7273), PMM2(5373), AASS(10157), NKX2-5(1482), OPTN(10133), TSPYL1(7259), TSC1(7248), TSC2(7249), CTSD(1509), ARX(170302), MBTPS2(51360), PLG(5340), PLEC(5339), TRPS1(7227), HSPG2(3339), CD96(10225), HSPD1(3329), LMBRD1(55788), CRYBA1(1411), CRYAB(1410), CRYGD(1421), MLPH(79083), PITX3(5309), PITX2(5308), HR(55806), ALG3(10195), VCAN(1462), PHYH(5264), TPM2(7169), SERPINI1(5274), SH3TC2(79628), DDB2(1643), RET(5979), LRAT(9227), DCX(1641), DDC(1644), GAN(8139), DCR(1637), NOG(9241), PRPH2(5961), GCM2(9247), ADAMTS10(81794), RPGRIP1L(23322), RDH5(5959), SPATA7(55812), RCVRN(5957), OPN1LW(5956), SBF2(81846), RHO(6010), GRK1(6011), MCPH1(79648), DBH(1621), NPHP4(261734), NDUFS7(374291), KCNJ11(3767), RAPSN(5913), CYP4V2(285440), GPR56(9289), FGF23(8074), KCNJ13(3769), AAAS(8086), KCNC3(3748), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), KCNJ2(3759), KCNJ1(3758), GPR98(84059), DTNBP1(84062), RBP4(5950), CYP1B1(1545), NDUFAF4(29078), ATP13A2(23400), PABPN1(8106), BBS10(79738), ZFPM2(23414), SNAP29(9342), FAM123B(139285), DOK7(285489), RB1(5925), CRB1(23418), SLC25A22(79751), DMPK(1760), RPGR(6103), RP2(6102), RP1(6101), ITPR1(3708), ZIC4(84107), RP9(6100), ARL6(84100), B4GALT7(11285), ITGB4(3691), TREX1(11277), ALS2(57679), KL(9365), DNM2(1785), ROM1(6094), DNMT3B(1789), ZFHX4(79776), DLAT(1737), IRF6(3664), DKC1(1736), PARK7(11315), DLD(1738), RPE65(6121), RECQL4(9401), PDHX(8050), ETHE1(23474), HPS6(79803), ITGA6(3655), ZFYVE26(23503), EHMT1(79813), INSR(3643), TNFRSF13B(23495), CYP7B1(9420), INS(3630), DHCR24(1718), RMRP(6023), DGUOK(1716), DHCR7(1717), DGCR(1714), RLBP1(6017), CYB5R3(1727), SH3PXD2B(285590), EPM2A(7957), ITM2B(9445), HGSNAT(138050), ALG1(56052), IMPDH1(3614), TIMM8A(1678), EIF2AK3(9451), ATP6V0A2(23545), CLDN19(149461), BBS5(129880), TACSTD2(4070), SETX(23064), CC2D2A(57545), EDNRA(1909), EDN3(1908), EDNRB(1910), EDA(1896), PTCH1(5727), TYMP(1890), KIF1B(23095), PTGS1(5742), PTH(5741), LRP2(4036), LRP5(4041), PTEN(5728), VSX1(30813), ALDH5A1(7915), PTH1R(5745), RAB23(51715), DYT3(1863), TOR1A(1861), ADAMTS2(9509), LMNB1(4001), LMNA(4000), C1QTNF5(114902), NHLRC1(378884), PRPS2(5634), LMX1B(4010), LPL(4023), DSP(1832), PHF6(84295), TUBA8(51807), HPS3(84343), LIFR(3977), DPYD(1806), LIPA(3988), ALMS1(7840), MOGS(7841), DPAGT1(1798), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), LDLR(3949), PEX5(5830), PYCR1(5831), ALDH18A1(5832), ENG(2022), UQCRQ(27089), SLC36A2(153201), LAMB2(3913), IQCB1(9657), LAMA3(3909), LCAT(3931), LBR(3930), LAMP2(3920), ZBTB16(7704), DNAI1(27019), KRT17(3872), PTPN11(5781), L1CAM(3897), EIF2B1(1967), FREM2(341640), KRT6B(3854), ADAMTSL2(9719), KRT3(3850), NLRP3(114548), KRAS(3845), EFNB1(1947), SEMA3E(9723), KRT14(3861), KRT12(3859), PVRL1(5818)]
ABNORMALITY OF THE FACE(HP:0000271)	[FBN1(2200), FBN2(2201), FKRP(79147), HIBCH(26275), SUCLA2(8803), TINF2(26277), VPS33B(26276), SPINK5(11005), CCBE1(147372), HSD17B4(3295), FERMT3(83706), H19(283120), DPM1(8813), EDARADD(128178), SLC16A2(6567), SLC35C1(55343), KCNQ1OT1(10984), ABCA1(19), ABAT(18), HRAS(3265), SNAI2(6591), FANCD2(2177), DOLK(22845), CTSA(5476), FANCC(2176), PPIB(5479), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), ACADS(35), PPARG(5468), LYST(1130), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), SLC29A3(55315), ACOX1(51), FKTN(2218), CHRNG(1146), POU1F1(5449), CHRNE(1145), CHRND(1144), POR(5447), ACTA1(58), PUS1(80324), WNT10A(80326), TNFRSF11A(8792), CHRNB1(1140), ACTB(60), SNRPN(6638), UPF3B(65109), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), POLG(5428), CDKN1C(1028), POLH(5429), FGF14(2259), FAM83H(286077), FGF10(2255), SOS1(6654), FGF3(2248), CECR(1055), FGD1(2245), ACY1(95), ACVRL1(94), ASPM(259266), EDAR(10913), GDF6(392255), ACVR1(90), SMN1(6606), FOXC2(2303), HPGD(3248), FOXE3(2301), FOXC1(2296), SMCR(6600), ICK(22858), HPS1(3257), TRPV4(59341), WNK1(65125), HOXD13(3239), CUL7(9820), SPRED1(161742), CTSC(1075), GNPTG(84572), SMS(6611), SMPD1(6609), PRNP(5621), ERBB3(2065), ABCA12(26154), ERCC2(2068), TRIM32(22954), ERCC3(2071), PHOX2B(8929), SGCB(6443), PRPS1(5631), STRA6(64220), ERCC6(2074), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), SH3BP2(6452), BLOC1S3(388552), MAPK10(5602), ADSL(158), MFRP(83552), HOXA2(3199), AGA(175), SOX18(54345), MTMR2(8898), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), PRKAR1A(5573), MIPOL1(145282), AHCY(191), PRKCG(5582), AGL(178), COL1A2(1278), XPC(7508), ZNF469(84627), COL1A1(1277), KIAA1279(26128), JAG1(182), AGT(183), RAB3GAP1(22930), XPA(7507), MSX1(4487), CNTN1(1272), GJB6(10804), WHCR(7467), SEPT9(10801), WHSC1(7468), SIX3(6496), ERCC8(1161), MVK(4598), CEP290(80184), MUSK(4593), EYA1(2138), MED12(9968), TRIM37(4591), WRN(7486), WNT3(7473), HEXB(3074), WNT7A(7476), EVC(2121), NOP10(55505), SMARCAL1(50485), FRAS1(80144), CLCN7(1186), PPP2R2B(5521), SHH(6469), BEST1(7439), MFN2(9927), F13A1(2162), F11(2160), FANCA(2175), ALDOB(229), SLC39A13(91252), ALDOA(226), SHOX(6473), ALDH3A2(224), COX4I2(84701), PPP1R3A(5506), VWF(7450), WAS(7454), GORAB(92344), ALPL(249), F10(2159), LEPRE1(64175), F5(2153), BIN1(274), SCN9A(6335), CLDN1(9076), NSD1(64324), ANCR(282), HPS5(11234), VDR(7421), MAPT(4137), POLG2(11232), MAT1A(4143), SLC6A19(340024), FERMT1(55612), ESCO2(157570), CP(1356), ALX3(257), AMELY(266), GNE(10020), AMELX(265), CLRN1(7401), SC5DL(6309), UPK3A(7380), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), SAT1(6303), RAB39B(116442), PEX13(5194), AIP(9049), PEX1(5189), PEX7(5191), UROS(7390), IL2RG(3561), PEPD(5184), CRH(1392), SLC25A4(291), SLC17A5(26503), CREBBP(1387), CNNM4(26504), SLC12A6(9990), CPT2(1376), MAN2B1(4125), MANBA(4126), UCHL1(7345), PDHA1(5160), COMP(1311), APOB(338), APOA2(336), COL17A1(1308), NHP2(55651), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), AIRE(326), COL5A2(1290), COL6A1(1291), APC(324), COL5A1(1289), COL7A1(1294), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), USH1C(10083), COL2A1(1280), IGF1R(3480), FUCA1(2517), MEN1(4221), COL3A1(1281), UBE3A(7337), FTL(2512), PQBP1(10084), TTC8(123016), PEX26(55670), BSCL2(26580), LMNB2(84823), SLC37A4(2542), POMGNT1(55624), UBB(7314), VPS13B(157680), UBA1(7317), SLC39A4(55630), ABCC6(368), G6PC(2538), IL1RAPL1(11141), PLOD3(8985), PANK2(80025), GAA(2548), AR(367), ATPAF2(91647), CHD7(55636), PLOD1(5351), ARSB(411), FOXE1(2304), ARSE(415), TWIST1(7291), LARGE(9215), RPS6KA3(6197), MGP(4256), BRWD3(254065), FLNA(2316), FLNB(2317), CTNS(1497), IDS(3423), MID1(4281), ATXN3(4287), TTPA(7274), MITF(4286), TTN(7273), PMM2(5373), NKX2-5(1482), FMR1(2332), AP4M1(9179), LRPPRC(10128), PKHD1(5314), TSPYL1(7259), TSHB(7252), TSC1(7248), TSC2(7249), ENAM(10117), CTSD(1509), ARX(170302), ASCL1(429), ORAI1(84876), MBTPS2(51360), PLG(5340), CTSK(1513), PLEC(5339), MGAT2(4247), CTDP1(9150), ATP1A3(478), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), ATIC(471), LMBRD1(55788), HR(55806), PITX2(5308), PHEX(5251), ALG3(10195), HYAL1(3373), DCLRE1C(64421), FTO(79068), HYLS1(219844), PHYH(5264), ANTXR2(118429), MMP2(4313), ATP2A2(488), HPS4(89781), TPM2(7169), RPS19(6223), TPM3(7170), G6PC3(92579), TH(7054), SH3TC2(79628), AVP(551), RET(5979), DDB2(1643), ATRX(546), NPR2(4882), TGIF1(7050), TGFBR2(7048), DDC(1644), ATR(545), TGFBR1(7046), DCTN1(1639), ACE(1636), REN(5972), TGFB1(7040), GLI3(2737), DCR(1637), SATB2(23314), NOG(9241), GLE1(2733), THRB(7068), LRRK2(120892), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), EMG1(10436), GLB1(2720), TK2(7084), GPC3(2719), DYNC2H1(79659), NTRK1(4914), CRTAP(10491), SEC23A(10484), ROR2(4920), DDR2(4921), MCPH1(79648), GJB2(2706), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), GJA1(2697), ATP7B(540), PROKR2(128674), DBH(1621), GH1(2688), ATP7A(538), GHR(2690), KCNJ11(3767), GP1BA(2811), MKKS(8195), GP9(2815), GP1BB(2812), RAPSN(5913), OCRL(4952), FGF23(8074), BDNF(627), GNS(2799), CYP27B1(1594), CYP27A1(1593), TUBB3(10381), RAG2(5897), RAG1(5896), KCNJ2(3759), KCNJ1(3758), DTNBP1(84062), ABHD5(51099), GNAS(2778), TRIP11(9321), TNFRSF11B(4982), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), ATP13A2(23400), SIX6(4990), PABPN1(8106), BBS10(79738), ZFPM2(23414), TMEM70(54968), KDM5C(8242), SNAP29(9342), FAM123B(139285), DOK7(285489), RB1(5925), PLA2G6(8398), DMPK(1760), TBXAS1(6916), EFEMP2(30008), TBX15(6913), TBX21(30009), ARL6(84100), GATA1(2623), TBX3(6926), TCF4(6925), CC2D1A(54862), ITK(3702), BRAF(673), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ITGB2(3689), BUB1B(701), ALS2(57679), KL(9365), SLC46A1(113235), DNM2(1785), TCIRG1(10312), DNMT3B(1789), TCOF1(6949), TCN2(6948), BMP4(652), ITGA2B(3674), BCOR(54880), DLAT(1737), GALNS(2588), DKC1(1736), IRF6(3664), PARK7(11315), GALNT3(2591), BLM(641), FOXL2(668), MKS1(54903), DLX3(1747), GNPAT(8443), C20orf54(113278), RECQL4(9401), RPE65(6121), PDHX(8050), MRPS16(51021), HPS6(79803), ITGA6(3655), POMT2(29954), INSR(3643), EHMT1(79813), GGCX(2677), ZMPSTE24(10269), PAX3(5077), PAX2(5076), INS(3630), DHCR24(1718), RMRP(6023), CA2(760), GDF1(2657), DHCR7(1717), DGCR(1714), RAX(30062), AHI1(54806), FAM20C(56975), DYM(54808), SAMD9(54809), SH3PXD2B(285590), PAK3(5063), GDNF(2668), HGSNAT(138050), TEK(7010), ALG1(56052), GCK(2645), CLCF1(23529), PCNT(5116), TERC(7012), TERT(7015), SOST(50964), ROBLD3(28956), CHST14(113189), TF(7018), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), DES(1674), PCCB(5096), TBX22(50945), ATP6V0A2(23545), GBA(2629), CHST3(9469), PCCA(5095), MYCN(4613), TBX4(9496), P2RY12(64805), GUSB(2990), BBS5(129880), SLURP1(57152), SALL4(57167), MYH3(4621), GJC2(57165), EDN3(1908), EDNRB(1910), MYF6(4618), EDA(1896), IKBKG(8517), IKBKAP(8518), PDE11A(50940), CDKL5(6792), GUCY2D(3000), USH1G(124590), STK11(6794), MYH8(4626), MYH9(4627), PTCH1(5727), FOXP2(93986), CANT1(124583), SEPN1(57190), LRP2(4036), LRP5(4041), PTEN(5728), ABCC8(6833), VSX1(30813), LTBP3(4054), AP3B1(8546), RAI1(10743), PTHLH(5744), NAGA(4668), RAB23(51715), NAGLU(4669), PTH1R(5745), SUOX(6821), ADAMTS2(9509), TOR1A(1861), HCCS(3052), LMNA(4000), EVC2(132884), LOX(4015), NBN(4683), CYP2R1(120227), LMX1B(4010), PRPS2(5634), SLC26A2(1836), SPG20(23111), CUL4B(8450), LPL(4023), NDN(4692), PHF6(84295), DSP(1832), SPINT2(10653), NDP(4693), DSPP(1834), NLGN4X(57502), CBS(875), RELN(5649), NEB(4703), ANKH(56172), TBCE(6905), TBP(6908), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), RUNX1(861), LIFR(3977), RUNX2(860), EBP(10682), TAP1(6890), DPYD(1806), TAP2(6891), DPYS(1807), LIPA(3988), OFD1(8481), BBS7(55212), TAPBP(6892), ALMS1(7840), MOGS(7841), DPAGT1(1798), AGRN(375790), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), CD40LG(959), PEX2(5828), LDLR(3949), PEX5(5830), KLK4(9622), PYCR1(5831), RBM28(55131), SOX10(6663), SOX9(6662), SOX2(6657), NF1(4763), ENG(2022), SLC35D1(23169), NSDHL(50814), NEU1(4758), ANO5(203859), POMT1(10585), LAMB3(3914), ELN(2006), LAMC2(3918), VPS13A(23230), D2HGDH(728294), SPTBN2(6712), LAMA3(3909), LBR(3930), ELANE(1991), NFKBIA(4792), TNFSF11(8600), NHS(4810), ZBTB16(7704), DNAI1(27019), NGF(4803), KRT17(3872), CDH3(1001), PTPN11(5781), L1CAM(3897), FBLN5(10516), NPHP3(27031), FREM2(341640), KRT6B(3854), ADAMTSL2(9719), ST14(6768), KRT6A(3853), STAT3(6774), KRT4(3851), NLRP3(114548), TP63(8626), KRAS(3845), SEMA3E(9723), MMACHC(25974), EFNB1(1947), SUMF1(285362), SSTR5(6755), KRT16(3868), SLC34A3(142680), AGPAT2(10555), KRT14(3861), KRT13(3860), PNKD(25953), PVRL1(5818)]
ABNORMALITY OF THE FEET(HP:0001760)	[SH3TC2(79628), FBN1(2200), RET(5979), FBN2(2201), FKRP(79147), ATRX(546), NPR2(4882), VPS33B(26276), TGFBR2(7048), ATR(545), SACS(26278), FBLN1(2192), CCBE1(147372), TGFBR1(7046), GAN(8139), HSD17B4(3295), REEP1(65055), H19(283120), SLC16A2(6567), GLI3(2737), NOG(9241), HRAS(3265), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), EMG1(10436), BBS9(27241), GNPTAB(79158), SBF2(81846), GPC3(2719), NOD2(64127), LYST(1130), HSPB1(3315), KIF5A(3798), NTRK1(4914), SEC23A(10484), B3GALTL(145173), ROR2(4920), GJB1(2705), SLC6A8(6535), DDR2(4921), GJB2(2706), SLC9A6(10479), RAB3GAP2(25782), MPZ(4359), GJA1(2697), CHRNG(1146), POR(5447), ACTA1(58), ATP7A(538), MKKS(8195), SNRPN(6638), FBXO7(25793), UPF3B(65109), RAPSN(5913), NDRG1(10397), FGFR1(2260), FGFR3(2261), GDF5(8200), CDKN1B(1027), FGFR2(2263), BBS12(166379), POLG(5428), FGF14(2259), FGF10(2255), HSPB8(26353), KCNJ2(3759), HOXA13(3209), FGD1(2245), ACVR1(90), HPRT1(3251), GNAS(2778), TRIP11(9321), KAL1(3730), BBS1(582), BBS2(583), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), TRPV4(59341), WNK1(65125), BBS10(79738), KDM5C(8242), FAM123B(139285), HOXD13(3239), DOK7(285489), HOXD10(3236), CUL7(9820), CTSC(1075), PMP22(5376), SMS(6611), FHL1(2273), PLA2G6(8398), ATL1(51062), TRIM32(22954), TBX15(6913), CCT5(22948), ARL6(84100), TBX3(6926), PRPS1(5631), ERCC6(2074), KIAA0196(9897), BRAF(673), B4GALT7(11285), GARS(2617), MTM1(4534), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), HNF1B(6928), ALS2(57679), DNM2(1785), ZFYVE27(118813), BMP4(652), SPG11(80208), BCOR(54880), IRF6(3664), MTMR2(8898), FGD4(121512), PRX(57716), MKS1(54903), PRKAR1A(5573), COL1A2(1278), RECQL4(9401), COL1A1(1277), BMPR1B(658), GJB6(10804), ZFYVE26(23503), WHCR(7467), INSR(3643), WHSC1(7468), EXT1(2131), CEP290(80184), CYP7B1(9420), ZMPSTE24(10269), WNT10B(7480), MED12(9968), DHCR24(1718), RMRP(6023), HGD(3081), DHCR7(1717), DYM(54808), GDAP1(54332), WNT7A(7476), EVC(2121), MFN2(9927), CLCF1(23529), SHFM1(7979), VLDLR(7436), WISP3(8838), CHST14(113189), SLC39A13(91252), EIF2AK3(9451), ALDH3A2(224), DES(1674), ATP6V0A2(23545), GBA(2629), ALPL(249), VRK1(7443), CHST3(9469), APTX(54840), MYCN(4613), TBX4(9496), MYOT(9499), GUSB(2990), BBS5(129880), SALL4(57167), MYH3(4621), SETX(23064), NSD1(64324), LMBR1(64327), FERMT1(55612), ESCO2(157570), CDKL5(6792), MYH7(4625), MATN3(4148), MYH8(4626), PTCH1(5727), RAB7A(7879), GNE(10020), IFT80(57560), IHH(3549), SC5DL(6309), CANT1(124583), NIPA1(123606), SALL1(6299), YARS(8565), TMEM216(51259), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), PEX1(5189), AIP(9049), PEX7(5191), LRP5(4041), PFKM(5213), SLC17A5(26503), LITAF(9516), CREBBP(1387), SIL1(64374), PTHLH(5744), SLC12A6(9990), PTH1R(5745), RAB23(51715), TCAP(8557), CPT2(1376), ADAMTS2(9509), LMNA(4000), COL17A1(1308), EVC2(132884), INPP5E(56623), MECP2(4204), COL11A2(1302), LMX1B(4010), COL5A2(1290), SLC26A2(1836), COL6A1(1291), SPG20(23111), CUL4B(8450), COL5A1(1289), NDN(4692), PHF6(84295), DSP(1832), COL6A2(1292), COL6A3(1293), TREM2(54209), COL2A1(1280), MEN1(4221), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), TBCE(6905), VPS13B(157680), PORCN(64840), PEX3(8504), PLOD3(8985), LIFR(3977), EBP(10682), DPYS(1807), OFD1(8481), PANK2(80025), IGHMBP2(3508), BBS7(55212), ALMS1(7840), TYROBP(7305), PEX19(5824), ABCD3(5825), PLOD1(5351), EP300(2033), PEX2(5828), TWIST1(7291), LARGE(9215), PEX5(5830), RPS6KA3(6197), NEFL(4747), MGP(4256), BRWD3(254065), SPG7(6687), PLP1(5354), FLNA(2316), PLOD2(5352), FLNB(2317), IDS(3423), SOX10(6663), SOX9(6662), SLC33A1(9197), SLC35D1(23169), FMR1(2332), LAMB3(3914), PLEKHG5(57449), AP4M1(9179), LAMC2(3918), EMD(2010), LAMA3(3909), LBR(3930), ARX(170302), LAMP2(3920), MGAT2(4247), CTDP1(9150), HSPG2(3339), MBD5(55777), TRPS1(7227), RYR1(6261), CD96(10225), NGF(4803), CRYAB(1410), EGR2(1959), L1CAM(3897), PITX1(5307), FXN(2395), ADAMTSL2(9719), ALG3(10195), PHEX(5251), TP63(8626), KRAS(3845), HYLS1(219844), EFNB1(1947), SUMF1(285362), SSTR5(6755), PHYH(5264), MMP2(4313), ATP2A2(488), TPM2(7169), AGPAT2(10555), TPM3(7170), PVRL1(5818), SPTLC1(10558)]
ABNORMALITY OF THE FEMALE GENITALIA(HP:0010460)	[RET(5979), BBS5(129880), PROK2(60675), ATR(545), NELF(26012), SALL4(57167), ESCO2(157570), PAPSS2(9060), STK11(6794), MYH9(4627), PTCH1(5727), UBR1(197131), BBS9(27241), UPK3A(7380), SALL1(6299), PPARG(5468), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), AIP(9049), PEX1(5189), PTEN(5728), B3GALTL(145173), DCAF17(80067), ROR2(4920), FSHB(2488), FSHR(2492), CHRNG(1146), POR(5447), FST(10468), GP1BA(2811), MKKS(8195), SNRPN(6638), FH(2271), HCCS(3052), GP9(2815), LMNA(4000), GP1BB(2812), FGFR1(2260), HBB(3043), NBN(4683), TAC3(6866), FGFR2(2263), BBS12(166379), POLG(5428), TACR3(6870), AIRE(326), NDN(4692), HOXA13(3209), CYP19A1(1588), COL3A1(1281), CYP17A1(1586), TTC8(123016), PEX26(55670), CYP11B1(1584), BSCL2(26580), FOXC2(2303), BBS1(582), BBS2(583), PORCN(64840), BBS4(585), PCSK1(5122), PEX3(8504), NIPBL(25836), BBS10(79738), BBS7(55212), ALMS1(7840), DHH(50846), CXCR4(7852), AR(367), CHD7(55636), PEX19(5824), ABCD3(5825), PEX2(5828), TRIM32(22954), TBX15(6913), PEX5(5830), RPS6KA3(6197), ARL6(84100), HNF1A(6927), STRA6(64220), ITGB3(3690), HNF1B(6928), PMM2(5373), ITGA2B(3674), BCOR(54880), IRF6(3664), WT1(7490), FOXL2(668), MKS1(54903), KISS1R(84634), WNT4(54361), RECQL4(9401), BMPR1B(658), SRY(6736), WHCR(7467), CD96(10225), INSR(3643), WHSC1(7468), ATM(472), ERCC8(1161), ATIC(471), CEP290(80184), PAX3(5077), PTPN11(5781), DHCR24(1718), EIF2B2(8892), EIF2B5(8893), DHCR7(1717), EIF2B4(8890), EIF2B3(8891), WNT3(7473), EIF2B1(1967), FREM2(341640), WNT7A(7476), HFE(3077), FRAS1(80144), TP63(8626), HYLS1(219844), SEMA3E(9723), PPP1R3A(5506), VWF(7450), SSTR5(6755), AGPAT2(10555), F10(2159), MNX1(3110), F5(2153)]
ABNORMALITY OF THE FEMORAL HEAD(HP:0003368)	[SMARCAL1(50485), TRAPPC2(6399), RET(5979), ADAMTSL2(9719), TBX4(9496), TRPS1(7227), PCNT(5116), WISP3(8838), PLOD3(8985), SLC39A13(91252), COL11A2(1302), SLC26A2(1836), SBDS(51119), MATN3(4148), GNPTG(84572), DYM(54808), ACAN(176), COL2A1(1280), IHH(3549)]
ABNORMALITY OF THE FEMORAL METAPHYSIS(HP:0006489)	[FGFR3(2261)]
ABNORMALITY OF THE FEMORAL NECK(HP:0003367)	[TRAPPC2(6399), TRPV4(59341), COMP(1311), MATN3(4148), FGFR3(2261), IHH(3549), SLC39A13(91252), SHOX(6473), BMPR1B(658), RUNX2(860), ACVR1(90)]
ABNORMALITY OF THE FEMORAL NECK AND HEAD REGION(HP:0003366)	[TRAPPC2(6399), RET(5979), TBX4(9496), TRPS1(7227), COMP(1311), FGFR3(2261), COL11A2(1302), SLC26A2(1836), MATN3(4148), SBDS(51119), DYM(54808), COL2A1(1280), IHH(3549), ACVR1(90), SMARCAL1(50485), ADAMTSL2(9719), PCNT(5116), WISP3(8838), PLOD3(8985), SLC39A13(91252), SHOX(6473), RUNX2(860), TRPV4(59341), LBR(3930), GNPTG(84572), ACAN(176), BMPR1B(658)]
ABNORMALITY OF THE FEMUR(HP:0002823)	[TBX4(9496), RET(5979), VDR(7421), PLOD2(5352), FLNA(2316), FLNB(2317), MATN3(4148), IHH(3549), LBR(3930), GNPAT(8443), POR(5447), COL1A2(1278), ACAN(176), COL1A1(1277), BMPR1B(658), TRAPPC2(6399), HSPG2(3339), TRPS1(7227), COMP(1311), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), MMP13(4322), COL11A2(1302), CYP2R1(120227), COL11A1(1301), LMX1B(4010), SLC26A2(1836), CYP27B1(1594), SBDS(51119), DYM(54808), COL2A1(1280), WNT7A(7476), ACVR1(90), SMARCAL1(50485), ADAMTSL2(9719), ANKH(56172), PHEX(5251), CLCN5(1184), PCNT(5116), WISP3(8838), PLOD3(8985), SLC39A13(91252), SEMA3E(9723), SHOX(6473), RUNX2(860), TRPV4(59341), GBA(2629), SLC34A3(142680), GNPTG(84572), CHD7(55636), LEPRE1(64175)]
ABNORMALITY OF THE FIBULA(HP:0002991)	[CLCN5(1184), PHEX(5251), TBX15(6913), ATR(545), LMBR1(64327), VDR(7421), GDF5(8200), DDR2(4921), SHOX(6473), FLNA(2316), CYP2R1(120227), FLNB(2317), SOX9(6662), MIPOL1(145282), FAM123B(139285), CYP27B1(1594), PAPSS2(9060), SLC34A3(142680), GPC6(10082), IHH(3549), WNT7A(7476), BMPR1B(658), CANT1(124583)]
ABNORMALITY OF THE FINGERNAILS(HP:0001231)	[LBR(3930), WHCR(7467), NOG(9241), WHSC1(7468), ENG(2022), RPS6KA3(6197), PORCN(64840), ACVRL1(94), ROR2(4920), TFAP2A(7020), LAMA3(3909)]
ABNORMALITY OF THE FINGERS(HP:0001167)	[FBN1(2200), FBN2(2201), ATRX(546), NPR2(4882), TGFBR2(7048), ATR(545), SACS(26278), CCBE1(147372), TGFBR1(7046), H19(283120), GLI3(2737), DCR(1637), NOG(9241), HRAS(3265), HESX1(8820), ADAMTS10(81794), CRLF1(9244), FANCD2(2177), RPGRIP1L(23322), FANCC(2176), FANCE(2178), EMG1(10436), UBR1(197131), BBS9(27241), GNPTAB(79158), GPC3(2719), NOD2(64127), B3GALTL(145173), ROR2(4920), DDR2(4921), SLC29A3(55315), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), CHRNG(1146), POR(5447), KCNJ11(3767), MKKS(8195), SNRPN(6638), UPF3B(65109), RAPSN(5913), FGFR1(2260), FGFR3(2261), GDF5(8200), OCRL(4952), FGFR2(2263), BBS12(166379), FAM134B(54463), FGF10(2255), HOXA11(3207), TUBB3(10381), HOXA13(3209), FGD1(2245), KCNJ2(3759), ACVRL1(94), ACVR1(90), HPGD(3248), GNAS(2778), SFTPA2(729238), BBS1(582), BBS2(583), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), WNK1(65125), TRPV4(59341), BBS10(79738), ZFPM2(23414), KDM5C(8242), HOXD13(3239), FAM123B(139285), DOK7(285489), CUL7(9820), CTSC(1075), SMS(6611), ABCA12(26154), TRIM32(22954), TBX15(6913), SFTPB(6439), ARL6(84100), GATA1(2623), TBX3(6926), SFTPC(6440), TCF4(6925), ERCC6(2074), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), TREX1(11277), BMP4(652), BLM(641), MKS1(54903), MIPOL1(145282), RECQL4(9401), KIAA1279(26128), JAG1(182), BMPR1A(657), CNTN1(1272), BMPR1B(658), WHCR(7467), WFS1(7466), WHSC1(7468), GGCX(2677), ERCC8(1161), CEP290(80184), PAX3(5077), ZMPSTE24(10269), INS(3630), MED12(9968), RMRP(6023), DHCR7(1717), GDF1(2657), DYM(54808), WNT7A(7476), EVC(2121), PHGDH(26227), FRAS1(80144), GCK(2645), PCNT(5116), CLCF1(23529), SHFM1(7979), SOST(50964), FANCA(2175), WISP3(8838), CHST14(113189), TFAP2B(7021), SLC39A13(91252), TFAP2A(7020), EIF2AK3(9451), CHST3(9469), MYCN(4613), BBS5(129880), SALL4(57167), MYH3(4621), NSD1(64324), LMBR1(64327), ESCO2(157570), ALX3(257), MYH7(4625), STK11(6794), SMAD4(4089), IFT80(57560), IHH(3549), SC5DL(6309), CANT1(124583), SALL1(6299), SLC2A10(81031), TMEM216(51259), UROS(7390), PTEN(5728), ABCC8(6833), CREBBP(1387), SLC12A6(9990), RAB23(51715), PTH1R(5745), CPT2(1376), ADAMTS2(9509), COMP(1311), LMNA(4000), COL17A1(1308), EVC2(132884), INPP5E(56623), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), COL6A1(1291), NDN(4692), PHF6(84295), DSP(1832), IGF1(3479), COL6A2(1292), COL6A3(1293), IGF1R(3480), COL2A1(1280), CBS(875), COL3A1(1281), PQBP1(10084), TTC8(123016), VPS13B(157680), TBX5(6910), PORCN(64840), LIFR(3977), RUNX2(860), DPYS(1807), OFD1(8481), IGHMBP2(3508), BBS7(55212), MOGS(7841), DPAGT1(1798), HSD17B10(3028), CHD7(55636), PLOD1(5351), EP300(2033), ABCD3(5825), PEX2(5828), ARSE(415), TWIST1(7291), LARGE(9215), RPS6KA3(6197), MGP(4256), FLNA(2316), FLNB(2317), SOX9(6662), ENG(2022), NKX2-5(1482), LAMB3(3914), LAMB1(3912), AP4M1(9179), LAMC2(3918), LAMA3(3909), LBR(3930), ARX(170302), CTSK(1513), MGAT2(4247), HSPG2(3339), TRPS1(7227), NHS(4810), CD96(10225), ZBTB16(7704), CDH3(1001), PTPN11(5781), L1CAM(3897), FREM2(341640), ADAMTSL2(9719), ALG3(10195), TP63(8626), KRAS(3845), HYLS1(219844), EFNB1(1947), SEMA3E(9723), MMP2(4313), TPM2(7169), RPS19(6223)]
ABNORMALITY OF THE FINGERTIPS(HP:0001211)	[EP300(2033), HPGD(3248), SFTPA2(729238), SFTPB(6439), NSD1(64324), SFTPC(6440), TCF4(6925), FLNB(2317), MED12(9968), STK11(6794), CREBBP(1387), ENG(2022), SMAD4(4089), ACVRL1(94), BMPR1A(657)]
ABNORMALITY OF THE FONTANELLES AND CRANIAL SUTURES(HP:0000235)	[MYCN(4613), FBN1(2200), TGFBR2(7048), ATR(545), TGFBR1(7046), CCBE1(147372), NSD1(64324), VDR(7421), HSD17B4(3295), H19(283120), REN(5972), ACE(1636), GLI3(2737), KCNQ1OT1(10984), ESCO2(157570), PPIB(5479), UBR1(197131), GNPTAB(79158), PEX10(5192), PEX14(5195), LRP2(4036), CRTAP(10491), PEX13(5194), SEC23A(10484), PEX1(5189), B3GALTL(145173), ROR2(4920), ABCC8(6833), MCPH1(79648), GJA1(2697), POU1F1(5449), CREBBP(1387), POR(5447), RAB23(51715), ATP7A(538), ADAMTS2(9509), KCNJ11(3767), LMNA(4000), FGFR1(2260), FGFR3(2261), FGFR2(2263), CDKN1C(1028), CYP2R1(120227), CYP27B1(1594), PEX26(55670), HPGD(3248), TBCE(6905), PEX3(8504), RUNX2(860), HOXD13(3239), FAM123B(139285), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), TWIST1(7291), PEX5(5830), RPS6KA3(6197), PYCR1(5831), PLOD2(5352), FLNA(2316), SOX9(6662), ADSL(158), BMP4(652), ASPA(443), TSHB(7252), ETFDH(2110), ETFB(2109), ETFA(2108), CTSD(1509), MSX2(4488), AGTR1(185), ARX(170302), GNPAT(8443), COL1A2(1278), RECQL4(9401), COL1A1(1277), CTSK(1513), AGT(183), DMP1(1758), MVK(4598), ZMPSTE24(10269), MED12(9968), INS(3630), SH3PXD2B(285590), ALG1(56052), STAT3(6774), GCK(2645), CHST14(113189), EFNB1(1947), ATP6V0A2(23545), MMP2(4313), GORAB(92344), ALPL(249), SLC34A3(142680), RPS19(6223), LEPRE1(64175)]
ABNORMALITY OF THE FOOT MUSCULATURE(HP:0001436)	[SBF2(81846), LYST(1130), MFN2(9927), LMNA(4000), HSPB1(3315), KIF1B(23095), NEFL(4747), PRX(57716), DES(1674), TRPV4(59341), LBR(3930), CRYAB(1410), EGR2(1959), MPZ(4359), MYH7(4625), RAB7A(7879), GDAP1(54332), TCAP(8557), PMP22(5376), FHL1(2273)]
ABNORMALITY OF THE FORAMEN MAGNUM(HP:0002699)	[EP300(2033), CREBBP(1387), FGFR3(2261), FLNA(2316), RUNX2(860)]
ABNORMALITY OF THE FOREARM(HP:0002973)	[FBN1(2200), NPR2(4882), TWIST1(7291), TBX15(6913), ATR(545), SALL4(57167), TBX3(6926), LMBR1(64327), B4GALT7(11285), FLNA(2316), GLI3(2737), FLNB(2317), B2M(567), ESCO2(157570), NOG(9241), FANCD2(2177), FANCC(2176), FANCE(2178), IHH(3549), CANT1(124583), RAB3GAP2(25782), MIPOL1(145282), CHRNG(1146), POR(5447), RECQL4(9401), JAG1(182), BMPR1B(658), EXT2(2132), WHCR(7467), CD96(10225), ZBTB16(7704), WHSC1(7468), EXT1(2131), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), MMP13(4322), COL11A1(1301), LMX1B(4010), FGF10(2255), HOXA11(3207), CECR(1055), GPC6(10082), COL2A1(1280), WNT7A(7476), TBX5(6910), PCNT(5116), TRIP11(9321), FANCA(2175), NIPBL(25836), SEMA3E(9723), SHOX(6473), HOXD13(3239), RPS19(6223), CHD7(55636), LEPRE1(64175)]
ABNORMALITY OF THE FOREHEAD(HP:0000290)	[FBN1(2200), FBN2(2201), NPR2(4882), VPS33B(26276), ATR(545), MYH3(4621), CCBE1(147372), NSD1(64324), VDR(7421), HSD17B4(3295), H19(283120), EDARADD(128178), GLI3(2737), EDA(1896), ALX3(257), PTCH1(5727), GNE(10020), GNPTAB(79158), GLB1(2720), SC5DL(6309), PEX10(5192), DYNC2H1(79659), PEX14(5195), PEX13(5194), PEX1(5189), SEC23A(10484), PEX7(5191), LRP5(4041), PTEN(5728), B3GALTL(145173), ROR2(4920), DDR2(4921), MCPH1(79648), GJB2(2706), ACOX1(51), GJA1(2697), POU1F1(5449), CREBBP(1387), POR(5447), SLC12A6(9990), CPT2(1376), MAN2B1(4125), ATP7A(538), ACTB(60), UPF3B(65109), PDHA1(5160), FH(2271), FGFR1(2260), FGFR3(2261), NBN(4683), INPP5E(56623), FGFR2(2263), CYP2R1(120227), PRPS2(5634), FGF10(2255), SOS1(6654), GNS(2799), CYP27B1(1594), IGBP1(3476), KCNJ2(3759), GPC6(10082), FGD1(2245), KCNJ1(3758), FUCA1(2517), ASPM(259266), EDAR(10913), RELN(5649), PEX26(55670), TBCE(6905), OPHN1(4983), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), ZFPM2(23414), OFD1(8481), KDM5C(8242), FAM123B(139285), CUL7(9820), PEX19(5824), ABCD3(5825), EP300(2033), PLOD1(5351), PLA2G6(8398), PEX2(5828), TWIST1(7291), PEX5(5830), PYCR1(5831), RPS6KA3(6197), PRPS1(5631), BRWD3(254065), ERCC6(2074), BRAF(673), FLNA(2316), CTNS(1497), FLNB(2317), MAP2K1(5604), MAP2K2(5605), MID1(4281), BUB1B(701), SOX9(6662), SOX2(6657), MAPK10(5602), PMM2(5373), NKX2-5(1482), TCIRG1(10312), FMR1(2332), BMP4(652), LRPPRC(10128), D2HGDH(728294), ETFDH(2110), ETFB(2109), ETFA(2108), CTSD(1509), LBR(3930), MKS1(54903), DLX3(1747), ARX(170302), GNPAT(8443), NFKBIA(4792), RECQL4(9401), COL1A1(1277), CTSK(1513), JAG1(182), WHCR(7467), CD96(10225), WHSC1(7468), ATIC(471), MED12(9968), PTPN11(5781), DHCR24(1718), GDF1(2657), TRIM37(4591), FREM2(341640), FRAS1(80144), PHEX(5251), STAT3(6774), PCNT(5116), SOST(50964), TP63(8626), KRAS(3845), TFAP2B(7021), EFNB1(1947), TFAP2A(7020), MMACHC(25974), ATP6V0A2(23545), MMP2(4313), SLC34A3(142680), ALPL(249)]
ABNORMALITY OF THE FOVEA(HP:0000493)	[TYR(7299), PAX6(5080), MITF(4286), CACNA1F(778)]
ABNORMALITY OF THE FRONTAL HAIRLINE(HP:0000599)	[FRAS1(80144), EP300(2033), LRPPRC(10128), TWIST1(7291), FGFR3(2261), FGFR2(2263), EFNB1(1947), PTPN11(5781), MID1(4281), SOS1(6654), ALX3(257), ARX(170302), CREBBP(1387), FGD1(2245), FREM2(341640), MAN2B1(4125)]
ABNORMALITY OF THE FRONTAL SINUSES(HP:0002687)	[ALX3(257), TRIM37(4591), AGA(175), ATRX(546), FAM123B(139285), DNAI1(27019), KCNJ2(3759), FUCA1(2517), CTSK(1513), COL11A1(1301), FLNA(2316), RUNX2(860)]
ABNORMALITY OF THE FUNDUS(HP:0001098)	[FBN1(2200), LRAT(9227), RET(5979), FKRP(79147), EFEMP1(2202), MERTK(10461), AUH(549), ATRX(546), TINF2(26277), SACS(26278), CLN6(54982), HSD17B4(3295), TGFB1(7040), DNAJC19(131118), GLI3(2737), HSD11B2(3291), PRPH2(5961), NPHP1(4867), HESX1(8820), COQ2(27235), CDH23(64072), CTSA(5476), ABCA4(24), RDH5(5959), SPATA7(55812), BBS9(27241), GNPTAB(79158), GLB1(2720), OPN1LW(5956), RHO(6010), LYST(1130), TIMP3(7078), B3GALTL(145173), CHML(1122), CHM(1121), ACOX1(51), FKTN(2218), C20orf7(79133), GJA1(2697), NPHP4(261734), NDUFS7(374291), OPN1SW(611), MKKS(8195), FH(2271), CYP4V2(285440), FGFR2(2263), BCS1L(617), BBS12(166379), FGF23(8074), COL18A1(80781), AAAS(8086), GPR143(4935), CECR(1055), GPR98(84059), OAT(4942), DTNBP1(84062), C8orf38(137682), OPA1(4976), RBP4(5950), TNFRSF11B(4982), BBS1(582), BBS2(583), BBS4(585), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), NIPBL(25836), BBS10(79738), CCND1(595), SNAP29(9342), FASTKD2(22868), RB1(5925), CRB1(23418), SMPD1(6609), BTD(686), PLA2G6(8398), RPGR(6103), RP2(6102), ERCC3(2071), TRIM32(22954), RP1(6101), RP9(6100), ARL6(84100), PRPS1(5631), ERCC6(2074), SEMA4A(64218), BRAF(673), MAP2K1(5604), MAP2K2(5605), SH3BP2(6452), BLOC1S3(388552), TREX1(11277), KL(9365), TCIRG1(10312), GALC(2581), PRPF31(26121), MFSD8(256471), SPG11(80208), DKC1(1736), GALNT3(2591), DLD(1738), CNGB1(1258), MKS1(54903), AGXT(189), RECQL4(9401), RPE65(6121), RPIA(22934), PDHX(8050), OPA3(80207), ETHE1(23474), JAG1(182), RAB3GAP1(22930), HPS6(79803), POMT2(29954), ZFYVE26(23503), WFS1(7466), PAX6(5080), ERCC8(1161), ST3GAL5(8869), FZD4(8322), CEP290(80184), CYP7B1(9420), PAX3(5077), PAX2(5076), EIF2B2(8892), MED12(9968), CA4(762), EIF2B5(8893), PPT1(5538), CA2(760), TRIM37(4591), EIF2B4(8890), WRN(7486), AHI1(54806), EIF2B3(8891), RLBP1(6017), HEXA(3073), TEAD1(7003), HEXB(3074), PCDH15(65217), COQ9(57017), HGSNAT(138050), IMPDH1(3614), BEST1(7439), MFN2(9927), PROM1(8842), TERC(7012), TERT(7015), SOST(50964), CLCNKB(1188), TIMM8A(1678), TFAP2A(7020), OPN1MW(2652), ALDH3A2(224), VHL(7428), CLN5(1203), TPP1(1200), CLN3(1201), APTX(54840), MTTP(4547), CABC1(56997), PGK1(5230), CLDN19(149461), BBS5(129880), SALL4(57167), HPS5(11234), GJC2(57165), CC2D2A(57545), EDNRB(1910), ATXN7(6314), IKBKG(8517), USH2A(7399), CP(1356), GUCY2D(3000), COX15(1355), USH1G(124590), ATXN1(6310), ATXN2(6311), ELOVL4(6785), CLRN1(7401), UQCRB(7381), MYO7A(4647), SALL1(6299), CRX(1406), TMEM216(51259), PTGS1(5742), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), NUP62(23636), SURF1(6834), MCOLN1(57192), NR2E3(10002), C10orf2(56652), AP3B1(8546), CREBBP(1387), CNNM4(26504), NAGA(4668), RAB23(51715), CACNA1F(778), MAN2B1(4125), APOB(338), HCCS(3052), C1QTNF5(114902), CNGB3(54714), SDHD(6392), KRIT1(889), SDHB(6390), SDHA(6389), INPP5E(56623), PDE6B(5158), COL11A1(1301), PDSS2(57107), APC(324), NDP(4693), NDUFA1(4694), NDUFA2(4695), COL4A1(1282), USH1C(10083), PDSS1(23590), COL2A1(1280), PEX26(55670), TTC8(123016), TUBA8(51807), POMGNT1(55624), VPS13B(157680), ABCC6(368), COX6B1(1340), HPS3(84343), PORCN(64840), PEX3(8504), NDUFS1(4719), DPYD(1806), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), HADHB(3032), PANK2(80025), TYR(7299), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), NDUFS8(4728), HADHA(3030), CHD7(55636), HSD17B10(3028), SLC25A15(10166), PEX19(5824), ARSA(410), ABCD3(5825), PLOD1(5351), EP300(2033), PEX2(5828), SLC19A2(10560), LARGE(9215), PEX5(5830), TULP1(7287), SPG7(6687), PLP1(5354), NDUFAF2(91942), FLNB(2317), CTNS(1497), IDS(3423), SOX10(6663), SOX2(6657), MITF(4286), UQCRQ(27089), PMM2(5373), NEU1(4758), POMT1(10585), ASPA(443), PRPF8(10594), NDUFAF3(25915), IQCB1(9657), TSC1(7248), TSC2(7249), NF2(4771), L2HGDH(79944), CTSD(1509), ASAH1(427), ARX(170302), TNFSF11(8600), ATIC(471), CDH3(1001), RS1(6247), PRPF3(9129), GSS(2937), EIF2B1(1967), FXN(2395), ALG3(10195), VCAN(1462), KRAS(3845), SEMA3E(9723), MMACHC(25974), PHYH(5264), HPS4(89781), NOTCH3(4854)]
ABNORMALITY OF THE GALLBLADDER(HP:0005264)	[SC5DL(6309)]
ABNORMALITY OF THE GASTRIC MUCOSA(HP:0004295)	[ERBB2(2064), PIK3CA(5290), KRAS(3845), FGFR2(2263), MUTYH(4595), AIRE(326), APC(324), IRF1(3659), CASP10(843), APOA1(335), MEN1(4221), KLF6(1316), CDH1(999)]
ABNORMALITY OF THE GENITAL TRACT(HP:0000078)	[FBN1(2200), RET(5979), FKRP(79147), DCX(1641), ATRX(546), TGM1(7051), PROK2(60675), ATR(545), CCBE1(147372), HSD17B3(3293), GLRB(2743), GLRA1(2741), H19(283120), DNAJC19(131118), GLI3(2737), KCNQ1OT1(10984), KIT(3815), COQ2(27235), USP9Y(8287), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), GNPTAB(79158), BBS9(27241), GLB1(2720), PPARG(5468), GPC3(2719), DYNC2H1(79659), SEC23A(10484), B3GALTL(145173), ROR2(4920), SLC29A3(55315), FKTN(2218), GTF2H5(404672), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), DAZ1(1617), POR(5447), FST(10468), PROKR2(128674), GP1BA(2811), CYP11A1(1583), MKKS(8195), SNRPN(6638), FH(2271), GP9(2815), GP1BB(2812), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), BCS1L(617), POLG(5428), CDKN1C(1028), BBS12(166379), FGF10(2255), SOS1(6654), POLA1(5422), GNRH1(2796), HOXA13(3209), FGD1(2245), CYP21A2(1589), CYP19A1(1588), CYP17A1(1586), CYP11B1(1584), FOXC2(2303), HPRT1(3251), CNBP(7555), GNAS(2778), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), ICK(22858), BBS4(585), ALOXE3(59344), NIPBL(25836), BBS10(79738), CCND1(595), TMEM70(54968), KDM5C(8242), CFTR(1080), HOXD13(3239), DOK7(285489), CUL7(9820), SMS(6611), DMPK(1760), ERCC2(2068), TRIM32(22954), EFEMP2(30008), TBX15(6913), ERCC3(2071), ARL6(84100), HNF1A(6927), TBX3(6926), STRA6(64220), ERCC6(2074), MTM1(4534), PROP1(5626), ITGB3(3690), BUB1B(701), HNF1B(6928), GALT(2592), BTK(695), SYCP3(50511), TCOF1(6949), BMP4(652), ITGA2B(3674), AGA(175), BCOR(54880), SOX18(54345), GALNS(2588), DKC1(1736), IRF6(3664), BLM(641), ETFDH(2110), WT1(7490), ETFB(2109), ETFA(2108), FOXL2(668), MKS1(54903), KISS1R(84634), NR0B1(190), COL1A2(1278), RECQL4(9401), WNT4(54361), COL1A1(1277), RAB3GAP1(22930), BMPR1B(658), POMT2(29954), WHCR(7467), WFS1(7466), INSR(3643), WHSC1(7468), INSL3(3640), ERCC8(1161), CEP290(80184), PAX3(5077), ZMPSTE24(10269), EIF2B2(8892), DHCR24(1718), MED12(9968), EIF2B5(8893), GPHN(10243), DHCR7(1717), DGCR(1714), RXFP2(122042), EIF2B4(8890), WRN(7486), EIF2B3(8891), WNT3(7473), HEXB(3074), ABCD1(215), WNT7A(7476), EVC(2121), HFE(3077), PHGDH(26227), FRAS1(80144), COQ9(57017), ALG1(56052), PCNT(5116), F13A1(2162), FANCA(2175), TFAP2A(7020), VHL(7428), PPP1R3A(5506), VWF(7450), ATP6V0A2(23545), F10(2159), APTX(54840), MNX1(3110), ALOX12B(242), LEPRE1(64175), CABC1(56997), F5(2153), GUSB(2990), BBS5(129880), MYH3(4621), NELF(26012), SALL4(57167), NSD1(64324), FERMT1(55612), ESCO2(157570), PAPSS2(9060), STK11(6794), MYH9(4627), PTCH1(5727), AURKC(6795), GNE(10020), AMH(268), AMHR2(269), SC5DL(6309), UPK3A(7380), SALL1(6299), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), AIP(9049), PTEN(5728), UPB1(51733), DCAF17(80067), C10orf2(56652), FSHB(2488), FSHR(2492), CREBBP(1387), SIL1(64374), UNG(7374), RAB23(51715), MAN2B1(4125), ADAMTS2(9509), LMNB1(4001), HCCS(3052), LMNA(4000), EVC2(132884), LOX(4015), INPP5E(56623), HBB(3043), NBN(4683), TAC3(6866), MECP2(4204), TACR3(6870), AIRE(326), COL5A2(1290), SLC26A2(1836), PDSS2(57107), CUL4B(8450), COL5A1(1289), NDN(4692), PHF6(84295), SPATA16(83893), DSP(1832), GPC6(10082), PDSS1(23590), COL2A1(1280), CBS(875), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), GOPC(57120), LHCGR(3973), TBCE(6905), LHB(3972), UBA1(7317), SLC39A4(55630), TBX1(6899), PORCN(64840), PEX3(8504), PCSK1(5122), OFD1(8481), BBS7(55212), ALMS1(7840), DHH(50846), CXCR4(7852), AR(367), ATPAF2(91647), CHD7(55636), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), EP300(2033), PEX2(5828), ARSE(415), LARGE(9215), PEX5(5830), STS(412), RPS6KA3(6197), BRWD3(254065), RBM28(55131), FLNA(2316), PLOD2(5352), CTNS(1497), FLNB(2317), IDS(3423), SOX10(6663), MID1(4281), SOX2(6657), FLT4(2324), PMM2(5373), NEU1(4758), POMT1(10585), FMR1(2332), ELN(2006), TSPYL1(7259), SRD5A2(6716), ARX(170302), MBTPS2(51360), SLC6A5(9152), PLEC(5339), CTDP1(9150), SRY(6736), HSPG2(3339), CD96(10225), ZBTB16(7704), DNAI1(27019), ATM(472), ATIC(471), PTPN11(5781), FBLN5(10516), EIF2B1(1967), FREM2(341640), PITX2(5308), STAR(6770), DCLRE1C(64421), TP63(8626), FTO(79068), HYLS1(219844), SEMA3E(9723), EFNB1(1947), SSTR5(6755), TPM2(7169), AGPAT2(10555), G6PC3(92579)]
ABNORMALITY OF THE GLOBUS PALLIDUS(HP:0002453)	[PANK2(80025), MUT(4594)]
ABNORMALITY OF THE GREATER SACROSCIATIC NOTCH(HP:0010456)	[GUSB(2990), DYM(54808), COL2A1(1280)]
ABNORMALITY OF THE HAIRLINE(HP:0009553)	[EP300(2033), WHCR(7467), WHSC1(7468), TWIST1(7291), FGFR3(2261), FGFR2(2263), PTPN11(5781), MID1(4281), SOS1(6654), ALX3(257), FGD1(2245), GNE(10020), FREM2(341640), GDF6(392255), TCOF1(6949), FRAS1(80144), LRPPRC(10128), TSC1(7248), TFAP2A(7020), TSC2(7249), EFNB1(1947), NIPBL(25836), ALDOA(226), ARX(170302), CREBBP(1387), MAN2B1(4125)]
ABNORMALITY OF THE HALLUX(HP:0001844)	[EP300(2033), NPR2(4882), TWIST1(7291), FGFR1(2260), FGFR3(2261), LMBR1(64327), MGP(4256), GDF5(8200), FGFR2(2263), FLNA(2316), GLI3(2737), SLC16A2(6567), MED12(9968), FGF10(2255), NOG(9241), HOXA13(3209), GNE(10020), IHH(3549), ACVR1(90), CANT1(124583), TP63(8626), HYLS1(219844), EFNB1(1947), SUMF1(285362), HOXD13(3239), CREBBP(1387), RAB23(51715), SMS(6611), BMPR1B(658)]
ABNORMALITY OF THE HAMATE BONE(HP:0004259)	[FGFR3(2261), EVC2(132884), EVC(2121), ATP7A(538)]
ABNORMALITY OF THE HAND(HP:0001155)	[FBN1(2200), FBN2(2201), ATRX(546), NPR2(4882), TGFBR2(7048), ATR(545), SACS(26278), FBLN1(2192), CCBE1(147372), TGFBR1(7046), HSD17B4(3295), DCTN1(1639), H19(283120), DPM1(8813), DCR(1637), GLI3(2737), ABCA1(19), NOG(9241), KIT(3815), HRAS(3265), HESX1(8820), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), FANCE(2178), EMG1(10436), UBR1(197131), GNPTAB(79158), BBS9(27241), GLB1(2720), SBF2(81846), GLA(2717), GPC3(2719), NOD2(64127), HSPB1(3315), NTRK1(4914), B3GALTL(145173), ROR2(4920), DDR2(4921), GJB2(2706), SLC29A3(55315), SLC9A6(10479), RAB3GAP2(25782), MPZ(4359), GJA1(2697), CHRNG(1146), POR(5447), ATP7A(538), KCNJ11(3767), MKKS(8195), SNRPN(6638), UPF3B(65109), RAPSN(5913), NDRG1(10397), FGFR1(2260), FGFR3(2261), OCRL(4952), GDF5(8200), CDKN1B(1027), FGFR2(2263), BBS12(166379), FAM134B(54463), FGF10(2255), SOS1(6654), HOXA11(3207), TUBB3(10381), KCNJ2(3759), HOXA13(3209), FGD1(2245), ACVRL1(94), ACVR1(90), GNAS(2778), HPGD(3248), TRIP11(9321), SFTPA2(729238), BBS1(582), BBS2(583), TNNI2(7136), ICK(22858), BBS4(585), KCNA1(3736), TNNT3(7140), NIPBL(25836), WNK1(65125), TRPV4(59341), BBS10(79738), ZFPM2(23414), KDM5C(8242), FAM123B(139285), HOXD13(3239), DOK7(285489), CUL7(9820), CTSC(1075), GNPTG(84572), PMP22(5376), SMS(6611), ABCA12(26154), TRIM32(22954), TBX15(6913), SFTPB(6439), CCT5(22948), ARL6(84100), GATA1(2623), SFTPC(6440), TBX3(6926), TCF4(6925), ERCC6(2074), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), ALS2(57679), TREX1(11277), BMP4(652), GALNS(2588), BLM(641), PRX(57716), MKS1(54903), PRKAR1A(5573), MIPOL1(145282), C20orf54(113278), RECQL4(9401), KIAA1279(26128), JAG1(182), BMPR1A(657), CNTN1(1272), BMPR1B(658), GJB6(10804), EXT2(2132), WHCR(7467), WFS1(7466), INSR(3643), EHMT1(79813), WHSC1(7468), EXT1(2131), GGCX(2677), ERCC8(1161), CEP290(80184), PAX3(5077), ZMPSTE24(10269), INS(3630), DHCR24(1718), WNT10B(7480), MED12(9968), RMRP(6023), GDF1(2657), DHCR7(1717), DYM(54808), GDAP1(54332), WNT7A(7476), EVC(2121), PHGDH(26227), FRAS1(80144), GCK(2645), CLCF1(23529), PCNT(5116), SHFM1(7979), SOST(50964), FANCA(2175), WISP3(8838), CHST14(113189), TFAP2B(7021), SLC39A13(91252), TFAP2A(7020), EIF2AK3(9451), SHOX(6473), ALDH3A2(224), CHST3(9469), LEPRE1(64175), MYCN(4613), GUSB(2990), BBS5(129880), SALL4(57167), MYH3(4621), NSD1(64324), LMBR1(64327), ESCO2(157570), ALX3(257), CDKL5(6792), MYH7(4625), MATN3(4148), STK11(6794), PTCH1(5727), SMAD4(4089), IFT80(57560), IHH(3549), SC5DL(6309), CANT1(124583), SALL1(6299), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), AIP(9049), LRP5(4041), GNASAS(149775), PTEN(5728), UROS(7390), ABCC8(6833), CREBBP(1387), SIL1(64374), PTHLH(5744), SLC12A6(9990), RAB23(51715), PTH1R(5745), CPT2(1376), ADAMTS2(9509), COMP(1311), LMNA(4000), COL17A1(1308), COL9A3(1299), EVC2(132884), COL9A2(1298), INPP5E(56623), COL11A2(1302), COL11A1(1301), LMX1B(4010), PDGFRA(5156), SLC26A2(1836), COL6A1(1291), NDN(4692), PHF6(84295), COL7A1(1294), DSP(1832), IGF1(3479), COL6A2(1292), TREM2(54209), COL6A3(1293), COL2A1(1280), IGF1R(3480), MEN1(4221), CBS(875), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), TBCE(6905), VPS13B(157680), TBX5(6910), TBX1(6899), PORCN(64840), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), DPYS(1807), OFD1(8481), IGHMBP2(3508), BBS7(55212), ALMS1(7840), MOGS(7841), DPAGT1(1798), TYROBP(7305), CHD7(55636), HSD17B10(3028), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), EP300(2033), PEX2(5828), ARSE(415), TWIST1(7291), LARGE(9215), PEX5(5830), RPS6KA3(6197), NEFL(4747), MGP(4256), RBM28(55131), FLNA(2316), FLNB(2317), IDS(3423), SOX9(6662), ENG(2022), SLC35D1(23169), NKX2-5(1482), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), AP4M1(9179), LAMC2(3918), LAMA3(3909), LBR(3930), ARX(170302), STX16(8675), CTSK(1513), MGAT2(4247), CTDP1(9150), HSPG2(3339), TRPS1(7227), NHS(4810), CD96(10225), ZBTB16(7704), NGF(4803), CDH3(1001), PTPN11(5781), EGR2(1959), L1CAM(3897), FREM2(341640), ADAMTSL2(9719), ALG3(10195), TP63(8626), KRAS(3845), HYLS1(219844), SEMA3E(9723), EFNB1(1947), SSTR5(6755), MMP2(4313), ATP2A2(488), TPM2(7169), AGPAT2(10555), RPS19(6223)]
ABNORMALITY OF THE HEART VALVES(HP:0001654)	[FBN1(2200), ARSB(411), FBN2(2201), GUSB(2990), EFEMP2(30008), TGFBR2(7048), RPS6KA3(6197), TGFBR1(7046), STRA6(64220), BRAF(673), FLNA(2316), MAP2K1(5604), IDS(3423), MAP2K2(5605), MYH11(4629), ESCO2(157570), HRAS(3265), MYH7(4625), NF1(4763), ZIC3(7547), ADAMTS10(81794), GNPTAB(79158), GLB1(2720), FMR1(2332), GPC3(2719), ELN(2006), AGA(175), SLC2A10(81031), BCOR(54880), GALNS(2588), D2HGDH(728294), B3GALTL(145173), MYLK2(85366), SLC29A3(55315), INVS(27130), PRKAR1A(5573), SLC25A4(291), GJA1(2697), COL1A2(1278), ZNF469(84627), RAB23(51715), COL1A1(1277), ZEB2(9839), LOX(4015), POLG(5428), COL5A2(1290), PTPN11(5781), HGD(3081), COL5A1(1289), SOS1(6654), FBLN5(10516), COL2A1(1280), NPHP3(27031), COL3A1(1281), CBS(875), PKD2(5311), PKD1(5310), ADAMTSL2(9719), VPS13B(157680), TNXB(7148), ABCC6(368), CAV3(859), KRAS(3845), SEMA3E(9723), VWF(7450), GBA(2629), GNPTG(84572), NOTCH1(4851), G6PC3(92579), CHD7(55636)]
ABNORMALITY OF THE HELIX(HP:0000380)	[PEX19(5824), HSPG2(3339), ADAMTSL2(9719), ABCD3(5825), FBN2(2201), SALL1(6299), PEX2(5828), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), TFAP2A(7020), SLC16A2(6567), MED12(9968), FAM123B(139285), CPT2(1376), EVC(2121), PEX26(55670)]
ABNORMALITY OF THE HEPATIC VASCULATURE(HP:0006707)	[ENG(2022), KRIT1(889), RECQL4(9401), ACVRL1(94)]
ABNORMALITY OF THE HIP(HP:0003272)	[FBN1(2200), RET(5979), FBN2(2201), TBX4(9496), ARSB(411), GUSB(2990), VPS33B(26276), PYCR1(5831), ATR(545), MYH3(4621), GATA1(2623), GLRB(2743), GLRA1(2741), FLNA(2316), GLI3(2737), DCR(1637), FLNB(2317), ESCO2(157570), SOX9(6662), MATN3(4148), MYH8(4626), SLC35D1(23169), NSDHL(50814), IHH(3549), GNPTAB(79158), GLB1(2720), CANT1(124583), LAMB1(3912), CRTAP(10491), DDR2(4921), LBR(3930), AP3B1(8546), GJA1(2697), CHRNG(1146), COL1A2(1278), ACTA1(58), SLC6A5(9152), ACAN(176), ZNF469(84627), COL1A1(1277), PTH1R(5745), BMPR1B(658), TRAPPC2(6399), HSPG2(3339), MKKS(8195), TRPS1(7227), WHCR(7467), RYR1(6261), CD96(10225), COMP(1311), WHSC1(7468), FGFR3(2261), OCRL(4952), GDF5(8200), COL11A2(1302), EYA1(2138), SLC26A2(1836), COL6A1(1291), GPHN(10243), HOXA11(3207), COL6A2(1292), SBDS(51119), COL6A3(1293), DYM(54808), COL2A1(1280), WNT7A(7476), ACVR1(90), SMARCAL1(50485), ADAMTSL2(9719), PCNT(5116), WISP3(8838), PORCN(64840), TNNT1(7138), PLOD3(8985), SLC39A13(91252), SHOX(6473), EIF2AK3(9451), RUNX2(860), TRPV4(59341), OFD1(8481), ATP6V0A2(23545), MMP2(4313), TPM2(7169), GNPTG(84572), CHST3(9469)]
ABNORMALITY OF THE HIP JOINTS(HP:0001384)	[HSPG2(3339), MKKS(8195), ARSB(411), WHCR(7467), RYR1(6261), CD96(10225), WHSC1(7468), VPS33B(26276), PYCR1(5831), ATR(545), MYH3(4621), GLRB(2743), OCRL(4952), GDF5(8200), GLRA1(2741), FLNA(2316), GLI3(2737), EYA1(2138), FLNB(2317), SLC26A2(1836), COL6A1(1291), GPHN(10243), SOX9(6662), HOXA11(3207), COL6A2(1292), MYH8(4626), COL6A3(1293), NSDHL(50814), COL2A1(1280), WNT7A(7476), GNPTAB(79158), LAMB1(3912), PORCN(64840), DDR2(4921), EIF2AK3(9451), OFD1(8481), AP3B1(8546), ATP6V0A2(23545), GJA1(2697), CHRNG(1146), TPM2(7169), COL1A2(1278), ACTA1(58), SLC6A5(9152), ZNF469(84627), COL1A1(1277)]
ABNORMALITY OF THE HIP-GIRDLE MUSCULATURE(HP:0001445)	[MYOT(9499), LMNA(4000), TRIM32(22954), SGCB(6443), ANO5(203859)]
ABNORMALITY OF THE HUMERAL EPIPHYSES(HP:0003891)	[GNPAT(8443), DYM(54808)]
ABNORMALITY OF THE HUMERAL HEADS(HP:0003887)	[GNPTAB(79158)]
ABNORMALITY OF THE HUMERUS(HP:0003063)	[FGFR1(2260), SALL4(57167), TBX3(6926), LMBR1(64327), GDF5(8200), FGFR2(2263), FLNA(2316), FLNB(2317), TRPV4(59341), NOG(9241), GNPAT(8443), DYM(54808), POR(5447), GPC6(10082), RECQL4(9401), CHST3(9469), IHH(3549), GNPTAB(79158), ATP7A(538)]
ABNORMALITY OF THE HYPOTHALAMUS(HP:0002443)	[OFD1(8481), SOX2(6657), GLI3(2737)]
ABNORMALITY OF THE HYPOTHALAMUS-PITUITARY AXIS(HP:0000864)	[AVP(551), SNRPN(6638), INSR(3643), SIX3(6496), LHX4(89884), CDKN1B(1027), H19(283120), GLI3(2737), PROP1(5626), THRB(7068), NDN(4692), SOX2(6657), HESX1(8820), SOX3(6658), GNRH1(2796), BTK(695), MEN1(4221), LHX3(8022), PITX2(5308), BMP4(652), SHH(6469), GNAS(2778), VPS13B(157680), TP63(8626), AIP(9049), CRH(1392), SEMA3E(9723), SLC29A3(55315), SSTR5(6755), PRKAR1A(5573), ALMS1(7840), GH1(2688), CHD7(55636)]
ABNORMALITY OF THE ILEUM(HP:0001549)	[GPC3(2719), FGFR1(2260)]
ABNORMALITY OF THE ILIUM(HP:0002867)	[TRAPPC2(6399), ARSB(411), EP300(2033), TBX15(6913), RPS6KA3(6197), ERCC8(1161), GATA1(2623), CCBE1(147372), NSD1(64324), FGFR3(2261), ERCC6(2074), MMP13(4322), COL11A1(1301), FLNA(2316), LMX1B(4010), FLNB(2317), DCR(1637), SLC26A2(1836), RMRP(6023), SOX9(6662), MATN3(4148), SBDS(51119), DYM(54808), COL2A1(1280), IHH(3549), WNT7A(7476), GNPTAB(79158), GLB1(2720), GPC3(2719), PCNT(5116), SEC23A(10484), GALNS(2588), DDR2(4921), EIF2AK3(9451), RUNX2(860), CREBBP(1387), GNPTG(84572), RPS19(6223)]
ABNORMALITY OF THE INCISORS(HP:0000676)	[SHH(6469), NHS(4810), ATRX(546), VPS13B(157680), SIX3(6496), CCBE1(147372), FGFR3(2261), B3GALTL(145173), BLM(641), COL11A1(1301), FGF10(2255), ALX3(257), EVC(2121)]
ABNORMALITY OF THE INNER EAR(HP:0000359)	[SUCLA2(8803), ATRX(546), SALL4(57167), CCBE1(147372), EDN3(1908), EDNRB(1910), RDX(5962), USH2A(7399), NOG(9241), GUCY2D(3000), COX15(1355), USH1G(124590), SNAI2(6591), MYH9(4627), COQ2(27235), CDH23(64072), TYMP(1890), UBR1(197131), MYO15A(51168), CLRN1(7401), UQCRB(7381), SBF2(81846), MYO7A(4647), TMC1(117531), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), ATP6V1B1(525), PEX7(5191), LRP5(4041), DCAF17(80067), SURF1(6834), POU3F4(5456), GJB2(2706), SLC29A3(55315), C10orf2(56652), ACOX1(51), CACNA1A(773), SLC25A4(291), MPZ(4359), C20orf7(79133), KCNQ1(3784), NAGA(4668), RAB23(51715), TNFRSF11A(8792), MAN2B1(4125), ACTB(60), KCNJ10(3766), NDUFS7(374291), ACTG1(71), FGFR1(2260), FGFR3(2261), SDHA(6389), BCS1L(617), POLG(5428), COL11A2(1302), COL11A1(1301), LMX1B(4010), PDSS2(57107), COL4A6(1288), FGF10(2255), SOS1(6654), NDP(4693), FGF3(2248), BSND(7809), IGF1(3479), HOXA11(3207), DSPP(1834), IGBP1(3476), NDUFA1(4694), NDUFA2(4695), PDSS1(23590), USH1C(10083), ACY1(95), COL2A1(1280), GPR98(84059), COL4A5(1287), PEX26(55670), GDF6(392255), SLC26A4(5172), C8orf38(137682), ACVR1(90), OPA1(4976), ABHD5(51099), ANKH(56172), COX6B1(1340), FOXI1(2299), FOXC1(2296), PORCN(64840), NDUFA11(126328), PEX3(8504), NDUFAF4(29078), NDUFS1(4719), NIPBL(25836), NDUFS3(4722), NDUFV1(4723), CCND1(595), NDUFS2(4720), SNAP29(9342), TYR(7299), NDUFS6(4726), NDUFS4(4724), FASTKD2(22868), ALMS1(7840), NDUFS8(4728), PMP22(5376), CHD7(55636), HSD17B10(3028), PEX19(5824), BTD(686), PEX2(5828), SLC19A2(10560), ERCC2(2068), PEX5(5830), ERCC3(2071), TMPRSS3(64699), RPS6KA3(6197), EYA4(2070), PRPS1(5631), MGP(4256), ERCC6(2074), NDUFAF2(91942), GRHL2(79977), FLNA(2316), FLNB(2317), SOX10(6663), SOX2(6657), MITF(4286), UQCRQ(27089), NEU1(4758), LHX3(8022), DIAPH1(1729), HOXA2(3199), GALE(2582), NDUFAF3(25915), OTOF(9381), TRIOBP(11078), BCOR(54880), DLD(1738), MYH14(79784), C20orf54(113278), COL1A2(1278), COL1A1(1277), XPA(7507), DMP1(1758), ATP1A2(477), WFS1(7466), SQSTM1(8878), ERCC8(1161), PAX3(5077), PAX2(5076), EYA1(2138), MED12(9968), PTPN11(5781), HGF(3082), KCNQ4(9132), BEAN(146227), TECTA(7007), PCDH15(65217), CLCNKA(1187), RNASET2(8635), COQ9(57017), PHEX(5251), MFN2(9927), PTPRQ(374462), SOST(50964), CLCNKB(1188), NLRP3(114548), FTO(79068), TIMM8A(1678), SEMA3E(9723), TFAP2A(7020), VHL(7428), GATA3(2625), PHYH(5264), DFNA5(1687), ARHGEF6(9459), APTX(54840), SPTLC1(10558), CABC1(56997)]
ABNORMALITY OF THE INTERVERTEBRAL DISKS(HP:0005108)	[HGD(3081), CHST3(9469)]
ABNORMALITY OF THE INTESTINES(HP:0002242)	[RET(5979), ATRX(546), SPINK5(11005), PPOX(5498), DDC(1644), CCBE1(147372), AVPR2(554), DCR(1637), FAH(2184), KIT(3815), HRAS(3265), SNAI2(6591), UBR1(197131), BBS9(27241), GLA(2717), GPC3(2719), SLC5A5(6528), NEUROG3(50674), SLC6A8(6535), TMPRSS6(164656), RFX5(5993), SLC9A6(10479), RFXAP(5994), SLC12A1(6557), VANGL1(81839), GIF(2694), ATP7A(538), SAR1B(51128), MKKS(8195), ZEB2(9839), FGFR1(2260), OCRL(4952), BBS12(166379), POLG(5428), CDKN2A(1029), BDNF(627), GNS(2799), CECR(1055), SBDS(51119), RAG2(5897), RAG1(5896), KCNJ1(3758), DTNBP1(84062), PTRF(284119), MSH2(4436), ADA(100), PNLIP(5406), BBS1(582), BBS2(583), BBS4(585), HPS1(3257), CYBB(1536), NIPBL(25836), BBS10(79738), CFTR(1080), FAM123B(139285), HSD3B7(80270), TP53(7157), MLYCD(23417), SMPD1(6609), PRNP(5621), AMN(81693), BTD(686), TRIM32(22954), PHOX2B(8929), ARL6(84100), GATA1(2623), TCF4(6925), STRA6(64220), BRAF(673), MAP2K1(5604), SGSH(6448), MAP2K2(5605), ITGB4(3691), ITGB2(3689), BLOC1S3(388552), HMBS(3145), GALT(2592), CUBN(8029), SLC46A1(113235), BTK(695), DNMT3B(1789), TCN2(6948), AGA(175), DKC1(1736), MKS1(54903), RECQL4(9401), COL1A1(1277), KIAA1279(26128), ETHE1(23474), BMPR1A(657), HPS6(79803), ITGA6(3655), ZFYVE26(23503), WHCR(7467), WHSC1(7468), SIX3(6496), TNFRSF13B(23495), CEP290(80184), MVK(4598), PAX3(5077), EYA1(2138), MED12(9968), RMRP(6023), DHCR7(1717), NCF1(653361), SLC2A2(6514), HEXB(3074), CFH(3075), GDNF(2668), SLC5A1(6523), FRAS1(80144), HGSNAT(138050), TEK(7010), SI(6476), TFAP2A(7020), SERPING1(710), DES(1674), COX4I2(84701), PCCB(5096), WAS(7454), ALPL(249), MNX1(3110), MTTP(4547), PCCA(5095), C5(727), MYCN(4613), CPT1A(1374), CPOX(1371), BBS5(129880), SALL4(57167), EPCAM(4072), ANCR(282), HPS5(11234), EDN3(1908), EDNRB(1910), FOXP3(50943), IKBKAP(8518), ABCB4(5244), SLC7A7(9056), CDKL5(6792), STK11(6794), SMAD4(4089), TYMP(1890), SALL1(6299), MYO5B(4645), LRP2(4036), PEX1(5189), PTEN(5728), IL2RG(3561), C10orf2(56652), CREBBP(1387), ATP8B1(5205), NAGLU(4669), ICOS(29851), PRSS1(5644), TREH(11181), APOB(338), NBN(4683), MECP2(4204), AMACR(23600), PDGFRA(5156), COL5A2(1290), NCF2(4688), AIRE(326), APC(324), COL5A1(1289), COL7A1(1294), MEFV(4210), SPINT2(10653), UBE3A(7337), MEN1(4221), PEX26(55670), TTC8(123016), TMPRSS15(5651), SLC37A4(2542), SLC39A4(55630), HPS3(84343), G6PC(2538), PORCN(64840), MCM6(4175), PCSK1(5122), SLC26A3(1811), LIPA(3988), AQP2(359), IGHMBP2(3508), BBS7(55212), IGKC(3514), CASP8(841), CASR(846), CHD7(55636), PAX8(7849), EP300(2033), CD40LG(959), PEX2(5828), RPS6KA3(6197), LCT(3938), FLNA(2316), CIITA(4261), IDS(3423), SOX10(6663), TTR(7276), ENG(2022), PMM2(5373), ABCB11(8647), AKR1D1(6718), CD247(919), CYBA(1535), LBR(3930), ASCL1(429), ARX(170302), SPINK1(6690), MBTPS2(51360), PLG(5340), CD96(10225), MPI(4351), L1CAM(3897), NME1(4830), NPHP3(27031), TRH(7200), FREM2(341640), PKD2(5311), PKD1(5310), ALG3(10195), DCLRE1C(64421), MLH1(4292), PHKB(5257), KRAS(3845), RFXANK(8625), SEMA3E(9723), ANTXR2(118429), HPS4(89781), RPS19(6223)]
ABNORMALITY OF THE IRIS(HP:0000525)	[FBN1(2200), PEX19(5824), ABCD3(5825), FBN2(2201), FKRP(79147), PEX2(5828), LARGE(9215), PEX5(5830), SALL4(57167), GATA1(2623), ANCR(282), HPS5(11234), ERCC6(2074), EDN3(1908), EDNRB(1910), DCR(1637), SOX10(6663), CDKL5(6792), BLOC1S3(388552), MITF(4286), SNAI2(6591), NF1(4763), POMT1(10585), STIM1(6786), PAH(5053), LAMB2(3913), NOD2(64127), LYST(1130), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), MYOC(4653), LRP5(4041), B3GALTL(145173), MKS1(54903), FKTN(2218), GJA8(2703), AP3B1(8546), GJA1(2697), JAG1(182), HPS6(79803), POMT2(29954), WHCR(7467), PAX6(5080), WHSC1(7468), HCCS(3052), ZEB2(9839), MECP2(4204), PAX3(5077), LMX1B(4010), NDP(4693), CECR(1055), IGBP1(3476), RAG2(5897), UROC1(131669), RAG1(5896), COL4A1(1282), UBE3A(7337), PEX26(55670), DTNBP1(84062), PITX2(5308), RBP4(5950), SHH(6469), FOXE3(2301), ALG3(10195), CYP1B1(1545), FOXC1(2296), HPS3(84343), TP63(8626), PORCN(64840), PEX3(8504), HPS1(3257), SEMA3E(9723), TFAP2A(7020), TYR(7299), HPS4(89781), CHD7(55636)]
ABNORMALITY OF THE ISCHIAL BONES(HP:0003174)	[TRIP11(9321), MATN3(4148), TBX15(6913)]
ABNORMALITY OF THE JAWS(HP:0000209)	[MYCN(4613), FBN1(2200), FKRP(79147), FBN2(2201), TBX4(9496), ATRX(546), SCN9A(6335), VPS33B(26276), TGFBR2(7048), ATR(545), CCBE1(147372), TGFBR1(7046), MYH3(4621), NSD1(64324), ANCR(282), HSD17B4(3295), H19(283120), TGFB1(7040), GLI3(2737), EDA(1896), ESCO2(157570), GLE1(2733), ABAT(18), ALX3(257), CDKL5(6792), MYH8(4626), ADAMTS10(81794), PTCH1(5727), CRLF1(9244), EMG1(10436), GNPTAB(79158), GLB1(2720), SC5DL(6309), CHRNA1(1134), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), LRP5(4041), B3GALTL(145173), PTEN(5728), ROR2(4920), SLC6A8(6535), DDR2(4921), SLC9A6(10479), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), CREBBP(1387), ACTA1(58), PUS1(80324), SLC12A6(9990), PTH1R(5745), CHRNB1(1140), MAN2B1(4125), ADAMTS2(9509), UPF3B(65109), LMNA(4000), RAPSN(5913), FGFR1(2260), NBN(4683), FGFR2(2263), MECP2(4204), COL11A2(1302), COL11A1(1301), SLC26A2(1836), COL5A2(1290), COL5A1(1289), SOS1(6654), FGF3(2248), IGF1(3479), CECR(1055), IGBP1(3476), KCNJ2(3759), GPC6(10082), FGD1(2245), UBE3A(7337), PQBP1(10084), PEX26(55670), BSCL2(26580), ANKH(56172), FOXC2(2303), TBCE(6905), POMGNT1(55624), VPS13B(157680), UBA1(7317), OPHN1(4983), TBX1(6899), TNNI2(7136), ICK(22858), PEX3(8504), TNNT3(7140), NIPBL(25836), LIFR(3977), RUNX2(860), OFD1(8481), TMEM70(54968), KDM5C(8242), FAM123B(139285), DOK7(285489), MOGS(7841), CUL7(9820), SPRED1(161742), DPAGT1(1798), SMS(6611), ATPAF2(91647), CHD7(55636), PEX19(5824), ERBB3(2065), ABCD3(5825), PLA2G6(8398), EP300(2033), PEX2(5828), TWIST1(7291), PEX5(5830), TBX15(6913), RPS6KA3(6197), STRA6(64220), ERCC6(2074), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), BUB1B(701), SOX9(6662), NSDHL(50814), FMR1(2332), DNMT3B(1789), TCOF1(6949), BMP4(652), AP4M1(9179), GALNS(2588), IRF6(3664), D2HGDH(728294), LBR(3930), MKS1(54903), ARX(170302), GNPAT(8443), RECQL4(9401), COL1A1(1277), CTSK(1513), TNFSF11(8600), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), INSR(3643), EHMT1(79813), WHSC1(7468), ERCC8(1161), MUSK(4593), ZMPSTE24(10269), PAX3(5077), EYA1(2138), DHCR24(1718), MED12(9968), PTPN11(5781), DHCR7(1717), DGCR(1714), DYM(54808), SH3PXD2B(285590), WNT3(7473), PITX2(5308), CLCN7(1186), ALG1(56052), STAT3(6774), PCNT(5116), SOST(50964), TP63(8626), FTO(79068), KRAS(3845), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), SHOX(6473), MMP2(4313), GORAB(92344), GBA(2629), AGPAT2(10555), TPM2(7169), RPS19(6223)]
ABNORMALITY OF THE JOINTS(HP:0001367)	[FBN1(2200), RET(5979), FBN2(2201), FKRP(79147), CHAT(1103), NPR2(4882), VPS33B(26276), TGFBR2(7048), ATR(545), CCBE1(147372), TGFBR1(7046), GLRB(2743), GLRA1(2741), H19(283120), DPM1(8813), SLC16A2(6567), GLI3(2737), DCR(1637), NOG(9241), HRAS(3265), ADAMTS10(81794), CRLF1(9244), MATR3(9782), EMG1(10436), UBR1(197131), GNPTAB(79158), GLB1(2720), CHRNA1(1134), ACADS(35), NOD2(64127), NTRK1(4914), SEC23A(10484), B3GALTL(145173), ROR2(4920), SLC6A8(6535), DDR2(4921), GJB2(2706), SLC29A3(55315), FKTN(2218), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), MPZ(4359), GJA1(2697), SLC12A3(6559), CHRNG(1146), CHRNE(1145), SLC12A1(6557), CHRND(1144), POR(5447), ACTA1(58), ATP7B(540), CHRNB1(1140), TNFRSF11A(8792), ATP7A(538), GHR(2690), KCNJ11(3767), MKKS(8195), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), GDF5(8200), FGFR2(2263), SOS1(6654), GNS(2799), CYP27B1(1594), HOXA11(3207), TUBB3(10381), RAG2(5897), TNFRSF1A(7132), RAG1(5896), KCNJ2(3759), KCNJ1(3758), CES1(1066), PTRF(284119), HPGD(3248), TNXB(7148), TNNI2(7136), TNNT1(7138), TNNT3(7140), NIPBL(25836), TRPV4(59341), HOXD13(3239), FAM123B(139285), DOK7(285489), HOXD10(3236), CUL7(9820), SMS(6611), FHL1(2273), ERBB3(2065), ERCC2(2068), TRIM32(22954), EFEMP2(30008), TBX15(6913), ERCC3(2071), GATA1(2623), SGCB(6443), PRPS1(5631), ERCC6(2074), SGCG(6445), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), ITGB4(3691), TREX1(11277), ALS2(57679), BTK(695), DNM2(1785), AGA(175), ABCG8(64241), ABCG5(64240), GALNS(2588), IRF6(3664), GNPAT(8443), COL1A2(1278), RECQL4(9401), ZNF469(84627), COL1A1(1277), DMD(1756), CNTN1(1272), GAD1(2571), ITGA6(3655), POMT2(29954), WHCR(7467), WFS1(7466), SQSTM1(8878), WHSC1(7468), GGCX(2677), ERCC8(1161), MVK(4598), MUSK(4593), PAX3(5077), ZMPSTE24(10269), EYA1(2138), INS(3630), DHCR24(1718), MED12(9968), GPHN(10243), RMRP(6023), HGD(3081), PPT1(5538), SLC17A3(10786), DYM(54808), GDAP1(54332), WNT7A(7476), HFE(3077), CLCN7(1186), C1R(715), CLCN5(1184), HGSNAT(138050), ALG1(56052), GCK(2645), CLCF1(23529), F13A1(2162), SOST(50964), WISP3(8838), CHST14(113189), TFAP2B(7021), SLC39A13(91252), TFAP2A(7020), EIF2AK3(9451), SHOX(6473), VWF(7450), ATP6V0A2(23545), WAS(7454), GBA(2629), ALPL(249), GBE1(2632), F9(2158), VRK1(7443), F10(2159), CHST3(9469), F8(2157), LEPRE1(64175), VCP(7415), BIN1(274), MYOT(9499), GUSB(2990), SALL4(57167), MYH3(4621), EPCAM(4072), NSD1(64324), VDR(7421), CAPN3(825), MYF6(4618), ESCO2(157570), IKBKAP(8518), ALX3(257), MYH7(4625), PAPSS2(9060), MATN3(4148), MYH8(4626), PTCH1(5727), IHH(3549), CANT1(124583), BAG3(9531), SEPN1(57190), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), PSTPIP1(9051), LRP5(4041), PTEN(5728), UROS(7390), ABCC8(6833), AP3B1(8546), CREBBP(1387), SIL1(64374), SLC12A6(9990), NAGA(4668), RAB23(51715), PTH1R(5745), NAGLU(4669), CPT2(1376), UMOD(7369), ADAMTS2(9509), TRAPPC2(6399), COMP(1311), LMNA(4000), COL17A1(1308), COL9A3(1299), COL9A2(1298), LOX(4015), COL9A1(1297), COL11A2(1302), COL11A1(1301), CYP2R1(120227), LMX1B(4010), PRPS2(5634), COL5A2(1290), SLC26A2(1836), COL6A1(1291), SPG20(23111), CUL4B(8450), COL5A1(1289), COL7A1(1294), MEFV(4210), COL6A2(1292), LEMD3(23592), COL6A3(1293), GPC6(10082), COL2A1(1280), FUCA1(2517), CBS(875), COL3A1(1281), PQBP1(10084), PEX26(55670), NEB(4703), ANKH(56172), SLC37A4(2542), VPS13B(157680), UBA1(7317), TBX5(6910), G6PC(2538), PORCN(64840), PEX3(8504), PLOD3(8985), LIFR(3977), OFD1(8481), IGHMBP2(3508), CHD7(55636), PEX19(5824), ABCD3(5825), ARSB(411), PLOD1(5351), EP300(2033), PEX2(5828), LARGE(9215), PEX5(5830), PYCR1(5831), RPS6KA3(6197), SERPINF2(5345), ALDH18A1(5832), PLP1(5354), RBM28(55131), FLNA(2316), PLOD2(5352), FLNB(2317), IDS(3423), SOX9(6662), NSDHL(50814), PMM2(5373), ANO5(203859), POMT1(10585), FMR1(2332), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), LAMC2(3918), EMD(2010), PLA2G2A(5320), CFI(3426), LAMA2(3908), LAMA3(3909), LBR(3930), ASAH1(427), ARX(170302), SLC6A5(9152), PLEC(5339), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), HSPD1(3329), MMP13(4322), CDH3(1001), PTPN11(5781), EGR2(1959), L1CAM(3897), FBLN5(10516), PRG4(10216), ADAMTSL2(9719), PHEX(5251), ALG3(10195), STAT3(6774), HYAL1(3373), NLRP3(114548), TP63(8626), KRAS(3845), SEMA3E(9723), EFNB1(1947), SUMF1(285362), ANTXR2(118429), MMP2(4313), SLC34A3(142680), TPM2(7169), TPM3(7170)]
ABNORMALITY OF THE JOINTS OF THE UPPER LIMBS(HP:0009810)	[FBN1(2200), VCP(7415), FKRP(79147), FBN2(2201), MYOT(9499), NPR2(4882), ATR(545), SALL4(57167), MYH3(4621), NSD1(64324), VDR(7421), CAPN3(825), GLI3(2737), ESCO2(157570), NOG(9241), ALX3(257), HRAS(3265), MYH7(4625), MATN3(4148), CRLF1(9244), PTCH1(5727), MATR3(9782), GLB1(2720), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), B3GALTL(145173), DDR2(4921), GJB2(2706), GJA1(2697), CHRNG(1146), POR(5447), SIL1(64374), CPT2(1376), ATP7A(538), COMP(1311), LMNA(4000), RAPSN(5913), FGFR1(2260), FGFR3(2261), GDF5(8200), OCRL(4952), FGFR2(2263), CYP2R1(120227), LMX1B(4010), SLC26A2(1836), COL6A1(1291), SOS1(6654), CYP27B1(1594), HOXA11(3207), COL6A2(1292), TUBB3(10381), COL6A3(1293), GPC6(10082), KCNJ2(3759), COL2A1(1280), PEX26(55670), VPS13B(157680), TBX5(6910), TNNI2(7136), PEX3(8504), PLOD3(8985), TNNT3(7140), NIPBL(25836), LIFR(3977), TRPV4(59341), DOK7(285489), CHD7(55636), FHL1(2273), PEX19(5824), ABCD3(5825), PEX2(5828), LARGE(9215), TBX15(6913), PEX5(5830), TRIM32(22954), SGCB(6443), ERCC6(2074), FLNA(2316), FLNB(2317), ANO5(203859), EMD(2010), GALNS(2588), RECQL4(9401), HSPG2(3339), TRPS1(7227), CD96(10225), MMP13(4322), PAX3(5077), EYA1(2138), PTPN11(5781), RMRP(6023), PRG4(10216), WNT7A(7476), ADAMTSL2(9719), CLCN5(1184), CLCF1(23529), SUMF1(285362), TFAP2A(7020), EFNB1(1947), SEMA3E(9723), SHOX(6473), MMP2(4313), ATP6V0A2(23545), SLC34A3(142680), TPM2(7169), CHST3(9469)]
ABNORMALITY OF THE KIDNEYS(HP:0000077)	[PLCE1(51196), SLC34A1(6569), RET(5979), FKRP(79147), ATRX(546), VPS33B(26276), CCBE1(147372), HSD17B4(3295), NRAS(4893), AVPR2(554), H19(283120), GLI3(2737), FAH(2184), KCNQ1OT1(10984), NPHS1(4868), HRAS(3265), NPHP1(4867), COQ2(27235), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GLA(2717), GPC3(2719), DYNC2H1(79659), CRTAP(10491), ATP6V1B1(525), B3GALTL(145173), ROR2(4920), FKTN(2218), SLC12A3(6559), SLC12A1(6557), POR(5447), ATP7B(540), PROKR2(128674), AXIN2(8313), ATP7A(538), KCNJ10(3766), NPHP4(261734), CYP11A1(1583), MKKS(8195), FH(2271), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), BBS12(166379), CDKN1C(1028), FGF23(8074), CDKN2A(1029), FGF10(2255), CECR(1055), SBDS(51119), HOXA13(3209), KCNJ1(3758), CYP21A2(1589), FGA(2243), CYP11B2(1585), DTNBP1(84062), HPRT1(3251), ADA(100), KAL1(3730), BBS1(582), SMCR(6600), BBS2(583), BBS4(585), HPS1(3257), NIPBL(25836), BBS10(79738), CCND1(595), FAM123B(139285), HOXD13(3239), FASTKD2(22868), OGG1(4968), TP53(7157), AMN(81693), ERBB3(2065), TBXAS1(6916), TRIM32(22954), SFTPB(6439), TBX15(6913), HNF1A(6927), ARL6(84100), SFTPC(6440), PRPS1(5631), STRA6(64220), ERCC6(2074), BRCA2(675), PRODH(5625), BRAF(673), MAP2K1(5604), MAP2K2(5605), BUB1B(701), BLOC1S3(388552), HNF1B(6928), CUBN(8029), KL(9365), BTK(695), SLC9A3R1(9368), BMP4(652), PRKCSH(5589), XDH(7498), AFP(174), GRHPR(9380), DKC1(1736), GALNT3(2591), WT2(7491), ETFDH(2110), WT1(7490), ETFB(2109), ETFA(2108), MKS1(54903), NR0B1(190), SLC22A12(116085), AGXT(189), RECQL4(9401), JAG1(182), HPS6(79803), POMT2(29954), AKT1(207), WFS1(7466), FLCN(201163), INSL3(3640), ERCC8(1161), CEP290(80184), EYA1(2138), PAX2(5076), MUT(4594), GPHN(10243), TRIM37(4591), SLC3A1(6519), DHCR7(1717), DGCR(1714), RXFP2(122042), SLC17A3(10786), SLC2A2(6514), AHI1(54806), SLC5A2(6524), WNT3(7473), PRCC(5546), CFH(3075), SLC4A1(6521), EVC(2121), CLCNKA(1187), SMARCAL1(50485), FRAS1(80144), C1R(715), COQ9(57017), SHH(6469), CLCN5(1184), CLCNKB(1188), C3(718), PCK1(5105), FANCA(2175), ALDOB(229), SI(6476), PCK2(5106), TFAP2A(7020), EIF2AK3(9451), VHL(7428), GATA3(2625), WAS(7454), ALPL(249), GBE1(2632), C4A(720), APTX(54840), PC(5091), MNX1(3110), CABC1(56997), PGK1(5230), CLDN19(149461), LYZ(4069), BBS5(129880), PGAM2(5224), SALL4(57167), NSD1(64324), HPS5(11234), SLC6A19(340024), RNF139(11236), AMBP(259), ESCO2(157570), IKBKAP(8518), SLC7A7(9056), MYH9(4627), SC5DL(6309), UPK3A(7380), SALL1(6299), TMEM216(51259), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), AIP(9049), PEX7(5191), PTEN(5728), SLC17A5(26503), SEC63(11231), UMPS(7372), RAI1(10743), RAB23(51715), PTH1R(5745), CPT2(1376), UMOD(7369), SLC6A20(54716), NPHS2(7827), SDHD(6392), SDHB(6390), EVC2(132884), INPP5E(56623), HBB(3043), NBN(4683), PDGFRL(5157), LMX1B(4010), PRPS2(5634), PDSS2(57107), COL4A6(1288), APC(324), MEFV(4210), PRTN3(5657), BSND(7809), APOA1(335), PDSS1(23590), COL2A1(1280), COL4A4(1286), COL4A5(1287), PQBP1(10084), PEX26(55670), TTC8(123016), COL4A3(1285), LMNB2(84823), TBCE(6905), SLC37A4(2542), ABCC6(368), COX6B1(1340), G6PC(2538), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), SLC7A9(11136), EBP(10682), AQP2(359), OFD1(8481), CLDN16(10686), BBS7(55212), APRT(353), ALMS1(7840), SCNN1G(6340), CASP10(843), CASR(846), SCNN1A(6337), CHD7(55636), SCNN1B(6338), PEX19(5824), ABCD3(5825), EP300(2033), SLC4A4(8671), PEX2(5828), DIRC2(84925), LARGE(9215), PEX5(5830), SCARB2(950), LDHA(3939), FLNA(2316), FLNB(2317), CTNS(1497), TTR(7276), SOX9(6662), NF1(4763), NSDHL(50814), PMM2(5373), NEU1(4758), POMT1(10585), FN1(2335), SLC36A2(153201), LPIN1(23175), LAMB2(3913), PKHD1(5314), IQCB1(9657), TSC1(7248), TSC2(7249), CFI(3426), LCAT(3931), INVS(27130), ASAH1(427), ARX(170302), ADAMTS13(11093), MBTPS2(51360), PLG(5340), CD96(10225), PIK3CA(5290), CDC73(79577), PTPN11(5781), GSN(2934), MLH3(27030), NPHP3(27031), FREM2(341640), PKD2(5311), MOCS2(4338), PKD1(5310), MOCS1(4337), STAR(6770), PHEX(5251), PTPRJ(5795), NLRP3(114548), TP63(8626), KRAS(3845), HYLS1(219844), SEMA3E(9723), MMACHC(25974), PHYH(5264), SLC34A3(142680), HPS4(89781), PNP(4860), FXYD2(486)]
ABNORMALITY OF THE KNEES(HP:0002815)	[FBN1(2200), FBN2(2201), TBX4(9496), ARSB(411), EP300(2033), ATRX(546), NPR2(4882), MYH3(4621), NSD1(64324), ERCC6(2074), REEP1(65055), DPM1(8813), FLNA(2316), TGFB1(7040), CTNS(1497), FLNB(2317), B2M(567), ESCO2(157570), NF1(4763), PAPSS2(9060), MATN3(4148), RPGRIP1L(23322), PPIB(5479), MATR3(9782), IHH(3549), ANO5(203859), GLB1(2720), BAG3(9531), ZFYVE27(118813), LAMB1(3912), SPG11(80208), KIF5A(3798), GALNS(2588), DDR2(4921), GJB2(2706), MKS1(54903), CHRNG(1146), CREBBP(1387), C20orf54(113278), COL1A2(1278), RECQL4(9401), ACAN(176), RAB23(51715), PTH1R(5745), CPT2(1376), MAN2B1(4125), ATP7A(538), CTDP1(9150), TNFSF11(8600), EXT2(2132), COMP(1311), EXT1(2131), GPR56(9289), FGFR1(2260), FGFR3(2261), EVC2(132884), COL9A2(1298), GDF5(8200), OCRL(4952), MMP13(4322), LMX1B(4010), RMRP(6023), SPG20(23111), DYM(54808), GPC6(10082), SH3PXD2B(285590), COL2A1(1280), WNT7A(7476), EVC(2121), VPS13B(157680), PCNT(5116), TNFRSF11B(4982), WISP3(8838), EIF2AK3(9451), LIFR(3977), EBP(10682), TPM2(7169), GNPTG(84572), CHST3(9469)]
ABNORMALITY OF THE LABIA(HP:0000058)	[BSCL2(26580), SNRPN(6638), LMNA(4000), FGFR1(2260), TP63(8626), PORCN(64840), IRF6(3664), ATIC(471), FGFR2(2263), B3GALTL(145173), ROR2(4920), SEMA3E(9723), NIPBL(25836), ESCO2(157570), NDN(4692), CHRNG(1146), POR(5447), AGPAT2(10555), CHD7(55636)]
ABNORMALITY OF THE LACRIMAL DUCT(HP:0000614)	[TCOF1(6949), NOP10(55505), EP300(2033), TWIST1(7291), TP63(8626), FGFR3(2261), NHP2(55651), FGFR2(2263), TFAP2A(7020), EYA1(2138), FGF10(2255), CREBBP(1387), UBR1(197131)]
ABNORMALITY OF THE LARGE INTESTINE(HP:0002250)	[RET(5979), BBS5(129880), TRIM32(22954), RPS6KA3(6197), SALL4(57167), GATA1(2623), ARL6(84100), PHOX2B(8929), CCBE1(147372), EDN3(1908), EDNRB(1910), CIITA(4261), DCR(1637), SOX10(6663), ITGB2(3689), HRAS(3265), SNAI2(6591), STK11(6794), SMAD4(4089), UBR1(197131), BBS9(27241), SALL1(6299), DKC1(1736), CYBA(1535), PTEN(5728), SLC6A8(6535), RFX5(5993), MKS1(54903), SLC9A6(10479), RFXAP(5994), ASCL1(429), MBTPS2(51360), VANGL1(81839), RECQL4(9401), KIAA1279(26128), BMPR1A(657), ZFYVE26(23503), MKKS(8195), ZEB2(9839), CEP290(80184), BBS12(166379), CDKN2A(1029), PAX3(5077), NCF2(4688), BDNF(627), RMRP(6023), APC(324), DHCR7(1717), L1CAM(3897), NCF1(653361), PKD2(5311), PKD1(5310), TTC8(123016), GDNF(2668), MSH2(4436), BBS1(582), BBS2(583), MLH1(4292), BBS4(585), RFXANK(8625), CYBB(1536), NIPBL(25836), TFAP2A(7020), BBS10(79738), CFTR(1080), BBS7(55212), RPS19(6223), MNX1(3110), TP53(7157)]
ABNORMALITY OF THE LARYNX(HP:0001600)	[MYCN(4613), CHAT(1103), MYH3(4621), ANCR(282), NSD1(64324), MAPT(4137), DCTN1(1639), GLI3(2737), EDA(1896), CDKL5(6792), HRAS(3265), CRLF1(9244), MATR3(9782), ECM1(1893), GNPTAB(79158), CHRNA1(1134), COLQ(8292), BAG3(9531), SEPN1(57190), PRKRA(8575), CHRNE(1145), CHRND(1144), POR(5447), RAI1(10743), ACTA1(58), CHRNB1(1140), PTH1R(5745), DBH(1621), GHR(2690), SNRPN(6638), UCHL1(7345), UPF3B(65109), RAPSN(5913), ZEB2(9839), SDHD(6392), SDHC(6391), MECP2(4204), POLG(5428), SLC26A2(1836), CUL4B(8450), NDN(4692), LEMD3(23592), UBE3A(7337), FTL(2512), VPS13B(157680), SMCR(6600), TBP(6908), TBX1(6899), PORCN(64840), NIPBL(25836), LIFR(3977), SDHAF2(54949), TRPV4(59341), PANK2(80025), HOXD13(3239), FAM123B(139285), IGHMBP2(3508), AR(367), PMP22(5376), SMS(6611), PAX8(7849), SLC19A2(10560), TBX3(6926), MGP(4256), TCF4(6925), PLP1(5354), FLNA(2316), CTNS(1497), FLNB(2317), IDS(3423), AGA(175), TSPYL1(7259), TSHB(7252), SRD5A2(6716), BLM(641), LAMA3(3909), MKS1(54903), LBR(3930), ASAH1(427), C20orf54(113278), PLG(5340), THAP1(55145), TRPS1(7227), HSPG2(3339), MUSK(4593), KRT17(3872), MED12(9968), TRIM37(4591), DGCR(1714), GDAP1(54332), FREM2(341640), TRH(7200), SMARCAL1(50485), KRT6B(3854), FRAS1(80144), ADAMTSL2(9719), MFN2(9927), PCNT(5116), HYLS1(219844), TFAP2A(7020), SERPING1(710), GBA(2629), ALPL(249)]
ABNORMALITY OF THE LENS(HP:0000517)	[FBN1(2200), ADAMTSL4(54507), FBN2(2201), FKRP(79147), RET(5979), BBS5(129880), SALL4(57167), CC2D2A(57545), TGFBI(7045), IKBKG(8517), ESCO2(157570), ALX3(257), GCM2(9247), GUCY2D(3000), MYH9(4627), ADAMTS10(81794), PTCH1(5727), BBS9(27241), SC5DL(6309), UQCRB(7381), MYO7A(4647), RHO(6010), NOD2(64127), PEX10(5192), KIF1B(23095), PTH(5741), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), SEC23A(10484), PEX7(5191), LRP5(4041), B3GALTL(145173), PTEN(5728), NR2E3(10002), C10orf2(56652), FKTN(2218), GTF2H5(404672), GJA8(2703), RAB3GAP2(25782), HSF4(3299), GJA1(2697), CREBBP(1387), SIL1(64374), SUOX(6821), ACTB(60), MKKS(8195), HCCS(3052), CNGB3(54714), SDHD(6392), SDHB(6390), OCRL(4952), INPP5E(56623), BCS1L(617), BBS12(166379), POLG(5428), COL11A1(1301), KCNJ13(3769), LMX1B(4010), COL18A1(80781), COL5A2(1290), COL4A6(1288), COL5A1(1289), COL7A1(1294), NDP(4693), CYP27A1(1593), COL4A1(1282), COL2A1(1280), CBS(875), COL4A5(1287), OAT(4942), PQBP1(10084), TTC8(123016), PEX26(55670), FTL(2512), ABHD5(51099), CNBP(7555), GNAS(2778), POMGNT1(55624), FOXE3(2301), BBS1(582), BBS2(583), BBS4(585), PORCN(64840), PEX3(8504), PLOD3(8985), SIX6(4990), EBP(10682), TAP1(6890), TAP2(6891), BBS10(79738), BBS7(55212), TAPBP(6892), ALMS1(7840), CASR(846), PEX19(5824), ABCD3(5825), EP300(2033), SLC4A4(8671), DMPK(1760), PEX2(5828), ARSE(415), RP2(6102), LARGE(9215), ERCC2(2068), TRIM32(22954), PEX5(5830), ERCC3(2071), ALDH18A1(5832), ARL6(84100), ERCC6(2074), FLNB(2317), BUB1B(701), GALT(2592), FAM126A(84668), UQCRQ(27089), AASS(10157), NEU1(4758), POMT1(10585), PAH(5053), LAMB2(3913), AGA(175), BCOR(54880), DKC1(1736), GALK1(2584), ETFDH(2110), NF2(4771), ETFB(2109), BFSP2(8419), ETFA(2108), MKS1(54903), GNPAT(8443), RPE65(6121), RECQL4(9401), COL1A1(1277), OPA3(80207), RAB3GAP1(22930), POMT2(29954), CTDP1(9150), HSPG2(3339), GJB6(10804), NHS(4810), PAX6(5080), ERCC8(1161), FZD4(8322), MVK(4598), CEP290(80184), CRYBA1(1411), GPHN(10243), CRYAB(1410), DHCR7(1717), WRN(7486), WNT3(7473), MOCS2(4338), PITX3(5309), MOCS1(4337), CRYGD(1421), PHGDH(26227), ITM2B(9445), BEST1(7439), VCAN(1462), VLDLR(7436), TFAP2A(7020), VHL(7428), PHYH(5264)]
ABNORMALITY OF THE LINE OF SCHWALBE(HP:0008048)	[PTEN(5728), PITX2(5308)]
ABNORMALITY OF THE LIVER(HP:0001392)	[FBP1(2203), MMAA(166785), TINF2(26277), VPS33B(26276), HSD17B4(3295), FERMT3(83706), H19(283120), DPM1(8813), SLC11A2(4891), MCCC1(56922), DNAJC19(131118), KCNQ1OT1(10984), SLC22A5(6584), FAH(2184), ABCA1(19), GNMT(27232), NPC1(4864), RPGRIP1L(23322), CTSA(5476), BBS9(27241), GNPTAB(79158), GLB1(2720), ACADM(34), FECH(2235), PPARG(5468), ACADL(33), GPC3(2719), LYST(1130), ACADVL(37), B3GALTL(145173), RHAG(6005), SLC29A3(55315), SEC23B(10483), ACOX1(51), RFX5(5993), RFXAP(5994), C20orf7(79133), MPV17(4358), POU1F1(5449), ATP7B(540), AXIN1(8312), MKKS(8195), BCS1L(617), BBS12(166379), CDKN1C(1028), POLG(5428), GNS(2799), CECR(1055), SBDS(51119), RAG2(5897), TNFRSF1A(7132), RAG1(5896), ACVRL1(94), FGA(2243), PTRF(284119), ABHD5(51099), ADA(100), SFTPA2(729238), BBS1(582), BBS2(583), BBS4(585), NDUFA11(126328), NDUFAF4(29078), CYBB(1536), BBS10(79738), CCND1(595), TMEM70(54968), CFTR(1080), FASTKD2(22868), TPI1(7167), HSD3B7(80270), HPD(3242), TP53(7157), SMPD1(6609), BTD(686), DMPK(1760), TRIM32(22954), ARL6(84100), ERCC6(2074), ITK(3702), HMGCL(3155), MTM1(4534), SGSH(6448), TMEM67(91147), HNF1B(6928), GALT(2592), TREX1(11277), ABCC2(1244), BTK(695), TCIRG1(10312), PRKCSH(5589), GALE(2582), AGA(175), ABCG8(64241), ABCG5(64240), AFP(174), GALNS(2588), DKC1(1736), GALK1(2584), ETFDH(2110), ETFB(2109), ETFA(2108), BPGM(669), MKS1(54903), AGL(178), RECQL4(9401), MRPS16(51021), JAG1(182), WHCR(7467), HK1(3098), INSR(3643), WHSC1(7468), ACAD9(28976), ERCC8(1161), MVK(4598), CEP290(80184), MUT(4594), DGUOK(1716), CA2(760), TRIM37(4591), DHCR7(1717), DGCR(1714), NCF1(653361), SLC17A3(10786), HEXB(3074), EPM2A(7957), HFE(3077), SLC4A1(6521), HGSNAT(138050), ALG1(56052), TERC(7012), TERT(7015), PCK1(5105), ALDOB(229), PCK2(5106), TF(7018), ALDOA(226), EIF2AK3(9451), VHL(7428), COX4I2(84701), PCCB(5096), PPP1R3A(5506), GBA(2629), GBE1(2632), PC(5091), PCCA(5095), GCDH(2639), CPT1A(1374), GUSB(2990), LYZ(4069), CPOX(1371), SH2D1A(4068), BBS5(129880), CLDN1(9076), NSD1(64324), ANK1(286), ESCO2(157570), SLC7A7(9056), ABCB4(5244), GUCY2D(3000), STK11(6794), GNE(10020), SC5DL(6309), UQCRB(7381), SLC25A20(788), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), UROD(7389), UROS(7390), IL2RG(3561), C10orf2(56652), PFKM(5213), AP3B1(8546), SLC17A5(26503), SEC63(11231), ATP8B1(5205), NAGLU(4669), CPT2(1376), MAN2B1(4125), LMNA(4000), KRIT1(889), ALG6(29929), HBB(3043), INPP5E(56623), APOE(348), NHLRC1(378884), AMACR(23600), PDGFRL(5157), APOC2(344), PDGFRA(5156), AIRE(326), NCF2(4688), PSAP(5660), LPL(4023), MEFV(4210), NDUFA1(4694), APOA1(335), FUCA1(2517), CBS(875), PEX26(55670), TTC8(123016), BSCL2(26580), SLC37A4(2542), SLC39A4(55630), COX6B1(1340), G6PD(2539), G6PC(2538), TBX1(6899), PEX3(8504), NDUFS1(4719), NDUFV1(4723), LIPA(3988), NDUFS2(4720), HADHB(3032), HADH(3033), BBS7(55212), NDUFS6(4726), HBA1(3039), NDUFS4(4724), ALMS1(7840), MOGS(7841), CDAN1(146059), FAS(355), GAA(2548), CASP10(843), CASP8(841), CASR(846), ATPAF2(91647), UGT1A1(54658), HADHA(3030), SLC25A15(10166), PEX19(5824), PIGM(93183), ARSA(410), ABCD3(5825), ARSB(411), SLC25A13(10165), CD40LG(959), PEX2(5828), PEX5(5830), PYGL(5836), CTNNB1(1499), NDUFAF2(91942), CIITA(4261), CTNS(1497), IDS(3423), NPC2(10577), ENG(2022), UQCRQ(27089), PMM2(5373), ABCB11(8647), NEU1(4758), SPTB(6710), TRMU(55687), MET(4233), SPTA1(6708), GPI(2821), NDUFAF3(25915), LRPPRC(10128), ASS1(445), PKLR(5313), PKHD1(5314), AKR1D1(6718), ASL(435), SP110(3431), CYBA(1535), LBR(3930), ASAH1(427), ADAMTS13(11093), GFM1(85476), TNFSF11(8600), CD96(10225), PIK3CA(5290), MPI(4351), NPHP3(27031), PKD2(5311), PKD1(5310), ADAMTSL2(9719), MMAB(326625), DCLRE1C(64421), PHKA2(5256), PHKB(5257), RFXANK(8625), PHKG2(5261), CSF3R(1441), SERPINA1(5265), AGPAT2(10555), G6PC3(92579)]
ABNORMALITY OF THE LOWER LIMBS(HP:0002814)	[FBN1(2200), SH3TC2(79628), RET(5979), FKRP(79147), FBN2(2201), ATRX(546), NPR2(4882), VPS33B(26276), TGFBR2(7048), ATR(545), SACS(26278), FBLN1(2192), CCBE1(147372), TGFBR1(7046), GAN(8139), HSD17B4(3295), DCTN1(1639), REEP1(65055), H19(283120), DPM1(8813), TGFB1(7040), SLC16A2(6567), GLI3(2737), B2M(567), NOG(9241), HRAS(3265), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), PPIB(5479), MATR3(9782), EMG1(10436), GNPTAB(79158), BBS9(27241), GLB1(2720), SBF2(81846), NOD2(64127), GPC3(2719), LYST(1130), HSPB1(3315), KIF5A(3798), NTRK1(4914), DYSF(8291), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), GJB1(2705), SLC6A8(6535), DDR2(4921), GJB2(2706), SLC9A6(10479), RAB3GAP2(25782), MPZ(4359), GJA1(2697), CHRNG(1146), POR(5447), ACTA1(58), ACTB(60), ATP7A(538), MKKS(8195), SNRPN(6638), FBXO7(25793), UPF3B(65109), RAPSN(5913), GPR56(9289), NDRG1(10397), FGFR1(2260), FGFR3(2261), OCRL(4952), GDF5(8200), CDKN1B(1027), FGFR2(2263), FGF23(8074), POLG(5428), BBS12(166379), FGF14(2259), FGF10(2255), HSPB8(26353), CYP27B1(1594), SBDS(51119), KCNJ2(3759), HOXA13(3209), FGD1(2245), ACVR1(90), HPRT1(3251), GNAS(2778), TRIP11(9321), TNFRSF11B(4982), KAL1(3730), BBS1(582), BBS2(583), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), WNK1(65125), TRPV4(59341), BBS10(79738), KDM5C(8242), FAM123B(139285), HOXD13(3239), DOK7(285489), HOXD10(3236), CUL7(9820), GNPTG(84572), CTSC(1075), PMP22(5376), SMS(6611), FHL1(2273), PLA2G6(8398), ATL1(51062), TBX15(6913), TRIM32(22954), CCT5(22948), ARL6(84100), TBX3(6926), PRPS1(5631), ERCC6(2074), SGCA(6442), KIAA0196(9897), SGCG(6445), BRAF(673), B4GALT7(11285), GARS(2617), MTM1(4534), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), HNF1B(6928), ALS2(57679), TREX1(11277), DNM2(1785), ZFYVE27(118813), BMP4(652), SPG11(80208), BCOR(54880), GALNS(2588), IRF6(3664), MTMR2(8898), FGD4(121512), PRX(57716), MKS1(54903), PRKAR1A(5573), MIPOL1(145282), GNPAT(8443), C20orf54(113278), COL1A2(1278), RECQL4(9401), ACAN(176), COL1A1(1277), DMD(1756), BMPR1B(658), EXT2(2132), GJB6(10804), ZFYVE26(23503), WHCR(7467), INSR(3643), WHSC1(7468), EXT1(2131), CEP290(80184), CYP7B1(9420), ZMPSTE24(10269), DHCR24(1718), WNT10B(7480), MED12(9968), RMRP(6023), HGD(3081), DHCR7(1717), DYM(54808), SH3PXD2B(285590), GDAP1(54332), WNT7A(7476), EVC(2121), SMARCAL1(50485), CLCN5(1184), MFN2(9927), CLCF1(23529), PCNT(5116), SHFM1(7979), VLDLR(7436), WISP3(8838), CHST14(113189), SLC39A13(91252), SHOX(6473), EIF2AK3(9451), ALDH3A2(224), DES(1674), ATP6V0A2(23545), GBA(2629), ALPL(249), VRK1(7443), CHST3(9469), APTX(54840), LEPRE1(64175), MYCN(4613), TBX4(9496), MYOT(9499), GUSB(2990), BBS5(129880), SETX(23064), MYH3(4621), SALL4(57167), NSD1(64324), VDR(7421), LMBR1(64327), FERMT1(55612), ESCO2(157570), CDKL5(6792), MYH7(4625), PAPSS2(9060), MATN3(4148), MYH8(4626), PTCH1(5727), RAB7A(7879), GNE(10020), IFT80(57560), IHH(3549), SC5DL(6309), CANT1(124583), BAG3(9531), NIPA1(123606), SALL1(6299), YARS(8565), TMEM216(51259), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), PEX1(5189), AIP(9049), PEX7(5191), LRP5(4041), PFKM(5213), SLC17A5(26503), LITAF(9516), CREBBP(1387), SIL1(64374), PTHLH(5744), SLC12A6(9990), TCAP(8557), RAB23(51715), PTH1R(5745), CPT2(1376), MAN2B1(4125), ADAMTS2(9509), TRAPPC2(6399), COMP(1311), LMNA(4000), COL17A1(1308), EVC2(132884), COL9A2(1298), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), CYP2R1(120227), LMX1B(4010), PRPS2(5634), COL5A2(1290), SLC26A2(1836), COL6A1(1291), SPG20(23111), CUL4B(8450), COL5A1(1289), NDN(4692), PHF6(84295), DSP(1832), COL6A2(1292), TREM2(54209), COL6A3(1293), GPC6(10082), COL2A1(1280), MEN1(4221), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), ANKH(56172), TBCE(6905), VPS13B(157680), CAV3(859), PORCN(64840), PEX3(8504), PLOD3(8985), LIFR(3977), RUNX2(860), EBP(10682), DPYS(1807), OFD1(8481), PANK2(80025), IGHMBP2(3508), BBS7(55212), ALMS1(7840), TYROBP(7305), AR(367), CHD7(55636), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), EP300(2033), PEX2(5828), TWIST1(7291), LARGE(9215), PEX5(5830), NEFL(4747), RPS6KA3(6197), MGP(4256), BRWD3(254065), SPG7(6687), PLP1(5354), FLNA(2316), PLOD2(5352), FLNB(2317), CTNS(1497), IDS(3423), SOX10(6663), SOX9(6662), SLC33A1(9197), NF1(4763), TTN(7273), SLC35D1(23169), ANO5(203859), FMR1(2332), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), AP4M1(9179), LAMC2(3918), EMD(2010), LAMA3(3909), LBR(3930), ARX(170302), LAMP2(3920), MGAT2(4247), CTDP1(9150), TNFSF11(8600), HSPG2(3339), MBD5(55777), TRPS1(7227), RYR1(6261), CD96(10225), NGF(4803), MMP13(4322), CRYAB(1410), EGR2(1959), L1CAM(3897), PITX1(5307), FXN(2395), ADAMTSL2(9719), PHEX(5251), ALG3(10195), TP63(8626), KRAS(3845), HYLS1(219844), SEMA3E(9723), EFNB1(1947), SUMF1(285362), SSTR5(6755), PHYH(5264), MMP2(4313), ATP2A2(488), SLC34A3(142680), AGPAT2(10555), TPM2(7169), TPM3(7170), PVRL1(5818), SPTLC1(10558)]
ABNORMALITY OF THE LUNGS(HP:0002088)	[FBN1(2200), RET(5979), FKRP(79147), FBP1(2203), CHAT(1103), MMAA(166785), TINF2(26277), SPINK5(11005), CCBE1(147372), DCTN1(1639), DPM1(8813), ACE(1636), REN(5972), MCCC1(56922), GLI3(2737), SLC35C1(55343), GLE1(2733), ABCA3(21), HRAS(3265), CRLF1(9244), BBS9(27241), GNPTAB(79158), GLB1(2720), CHRNA1(1134), TK2(7084), COLQ(8292), GLA(2717), GPC3(2719), NKX2-1(7080), CRTAP(10491), DDR2(4921), RFX5(5993), GTF2H5(404672), RFXAP(5994), MPZ(4359), GJA1(2697), C20orf7(79133), CHRNG(1146), CHRNE(1145), CHRND(1144), ACTA1(58), CHRNB1(1140), NDUFS7(374291), MKKS(8195), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), BCS1L(617), BBS12(166379), POLG(5428), SBDS(51119), RAG2(5897), CYP27A1(1593), RAG1(5896), ACVRL1(94), DTNBP1(84062), ACVR1(90), C8orf38(137682), SMN1(6606), ADA(100), SFTPA2(729238), BBS1(582), BBS2(583), FOXF1(2294), BBS4(585), TNNT1(7138), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), CYBB(1536), NIPBL(25836), BCHE(590), TRPV4(59341), BBS10(79738), CCND1(595), CFTR(1080), DOK7(285489), FASTKD2(22868), FHL1(2273), SMPD1(6609), ERBB3(2065), DMPK(1760), ERCC2(2068), TRIM32(22954), EFEMP2(30008), SFTPB(6439), ERCC3(2071), TBX21(30009), ARL6(84100), SFTPC(6440), STRA6(64220), ERCC6(2074), SGCG(6445), PROC(5624), PROS1(5627), MTM1(4534), BLOC1S3(388552), BTK(695), DNMT3B(1789), PRKCSH(5589), GALNS(2588), DKC1(1736), DLD(1738), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), MKS1(54903), AGTR1(185), DOCK8(81704), C20orf54(113278), COL1A1(1277), DMD(1756), AGT(183), HPS6(79803), ISCU(23479), BMPR2(659), FLCN(201163), TNFRSF13B(23495), CEP290(80184), MUSK(4593), ZMPSTE24(10269), DHCR7(1717), NCF1(653361), SLC17A3(10786), FAM20C(56975), WNT3(7473), CYB5R3(1727), HFE(3077), FRAS1(80144), TERC(7012), TERT(7015), VHL(7428), COX4I2(84701), WAS(7454), GBA(2629), VRK1(7443), SCN5A(6331), BBS5(129880), NAGS(162417), HPS5(11234), SLC7A7(9056), COX15(1355), SMAD4(4089), SMAD9(4093), BAG3(9531), UPK3A(7380), SLC25A20(788), SEPN1(57190), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), PTEN(5728), IL2RG(3561), SURF1(6834), AP3B1(8546), SEC63(11231), SLC12A6(9990), UNG(7374), ICOS(29851), CPT2(1376), ADAMTS2(9509), PRSS1(5644), LOX(4015), NBN(4683), SDHA(6389), MECP2(4204), COL11A2(1302), TSFM(10102), PDGFRA(5156), SLC26A2(1836), NCF2(4688), PSAP(5660), COL6A1(1291), COL4A6(1288), MEFV(4210), NDUFA1(4694), COL6A2(1292), COL6A3(1293), NDUFA2(4695), COL2A1(1280), COL3A1(1281), DSC2(1824), PEX26(55670), TTC8(123016), NEB(4703), SLC37A4(2542), UBA1(7317), COX6B1(1340), HPS3(84343), TBX1(6899), PEX3(8504), NDUFS1(4719), LIFR(3977), RUNX2(860), TAP1(6890), NDUFS3(4722), TAP2(6891), NDUFV1(4723), LIPA(3988), NDUFS2(4720), HADHB(3032), OFD1(8481), IGHMBP2(3508), BBS7(55212), NDUFS6(4726), TAPBP(6892), NDUFS4(4724), ALMS1(7840), GAA(2548), NDUFS8(4728), CASP8(841), CASR(846), HADHA(3030), PEX19(5824), PLOD1(5351), PEX5(5830), FLG(2312), SLC34A2(10568), FLNC(2318), NDUFAF2(91942), FLNA(2316), CIITA(4261), FLNB(2317), IDS(3423), SOX9(6662), NPC2(10577), ENG(2022), NSDHL(50814), FMO3(2328), LAMB1(3912), SYNE2(23224), ELN(2006), NDUFAF3(25915), PKHD1(5314), TSPYL1(7259), CYBA(1535), CTSD(1509), INVS(27130), LBR(3930), ASAH1(427), ARX(170302), ADAMTS13(11093), SPINK1(6690), HSPG2(3339), RYR1(6261), DNAI1(27019), SERPINC1(462), CRYAB(1410), EGR2(1959), FBLN5(10516), NPHP3(27031), FREM2(341640), MMAB(326625), STAT3(6774), DCLRE1C(64421), ALDH7A1(501), HYLS1(219844), RFXANK(8625), AICDA(57379), SERPINA1(5265), HPS4(89781), PNP(4860), TPM3(7170)]
ABNORMALITY OF THE LYMPH NODES(HP:0002733)	[CD40(958), CD40LG(959), SH2D1A(4068), TNFRSF13B(23495), MVK(4598), ITK(3702), NCF2(4688), FOXP3(50943), NCF1(653361), RAG2(5897), RAG1(5896), BTK(695), STIM1(6786), LYST(1130), DCLRE1C(64421), CYBA(1535), SP110(3431), CYBB(1536), AICDA(57379), FAS(355), PNP(4860), CASP10(843), UNG(7374), CASP8(841), ICOS(29851), SMPD1(6609)]
ABNORMALITY OF THE MACULA(HP:0001103)	[ZFYVE26(23503), CLDN19(149461), PAX6(5080), CNGB3(54714), SEMA4A(64218), COL18A1(80781), CDH3(1001), ATXN7(6314), PRPH2(5961), PPT1(5538), MITF(4286), RLBP1(6017), HEXA(3073), ABCA4(24), CTSA(5476), HEXB(3074), NEU1(4758), ELOVL4(6785), GLB1(2720), BEST1(7439), LYST(1130), SPG11(80208), ABCC6(368), PROM1(8842), TIMP3(7078), ALDH3A2(224), NR2E3(10002), ASAH1(427), TYR(7299), CLN3(1201), CACNA1F(778), SMPD1(6609)]
ABNORMALITY OF THE MALE GENITALIA(HP:0010461)	[FBN1(2200), DCX(1641), ATRX(546), PROK2(60675), ATR(545), CCBE1(147372), GLRB(2743), HSD17B3(3293), GLRA1(2741), H19(283120), DNAJC19(131118), GLI3(2737), KCNQ1OT1(10984), KIT(3815), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), GLB1(2720), GPC3(2719), SEC23A(10484), B3GALTL(145173), ROR2(4920), SLC29A3(55315), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), POR(5447), CYP11A1(1583), MKKS(8195), SNRPN(6638), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), BBS12(166379), POLG(5428), CDKN1C(1028), FGF10(2255), SOS1(6654), POLA1(5422), GNRH1(2796), HOXA13(3209), FGD1(2245), CYP21A2(1589), CYP17A1(1586), CYP11B1(1584), HPRT1(3251), FOXC2(2303), BBS1(582), KAL1(3730), BBS2(583), OPHN1(4983), ICK(22858), BBS4(585), NIPBL(25836), BBS10(79738), CCND1(595), KDM5C(8242), TMEM70(54968), HOXD13(3239), DOK7(285489), CUL7(9820), SMS(6611), DMPK(1760), TRIM32(22954), TBX15(6913), EFEMP2(30008), ARL6(84100), TBX3(6926), STRA6(64220), ERCC6(2074), MTM1(4534), BUB1B(701), HNF1B(6928), BTK(695), TCOF1(6949), BMP4(652), AGA(175), SOX18(54345), GALNS(2588), DKC1(1736), IRF6(3664), BLM(641), WT1(7490), MKS1(54903), KISS1R(84634), NR0B1(190), COL1A2(1278), RECQL4(9401), COL1A1(1277), RAB3GAP1(22930), WHCR(7467), WFS1(7466), INSR(3643), WHSC1(7468), INSL3(3640), ERCC8(1161), CEP290(80184), ZMPSTE24(10269), MED12(9968), DHCR24(1718), GPHN(10243), DHCR7(1717), RXFP2(122042), DGCR(1714), WNT3(7473), WNT7A(7476), EVC(2121), HFE(3077), PHGDH(26227), FRAS1(80144), PCNT(5116), F13A1(2162), FANCA(2175), TFAP2A(7020), VHL(7428), ATP6V0A2(23545), LEPRE1(64175), GUSB(2990), BBS5(129880), MYH3(4621), NELF(26012), NSD1(64324), FERMT1(55612), ESCO2(157570), STK11(6794), GNE(10020), AMH(268), AMHR2(269), SC5DL(6309), SALL1(6299), TMEM216(51259), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PTEN(5728), UPB1(51733), DCAF17(80067), CREBBP(1387), UNG(7374), RAB23(51715), MAN2B1(4125), ADAMTS2(9509), HCCS(3052), EVC2(132884), LOX(4015), INPP5E(56623), HBB(3043), TAC3(6866), MECP2(4204), TACR3(6870), COL5A2(1290), SLC26A2(1836), CUL4B(8450), COL5A1(1289), NDN(4692), PHF6(84295), DSP(1832), GPC6(10082), COL2A1(1280), COL3A1(1281), CBS(875), PQBP1(10084), TTC8(123016), PEX26(55670), TBCE(6905), LHCGR(3973), LHB(3972), UBA1(7317), SLC39A4(55630), TBX1(6899), PORCN(64840), PEX3(8504), OFD1(8481), BBS7(55212), DHH(50846), AR(367), ATPAF2(91647), CHD7(55636), PEX19(5824), ARSB(411), PLOD1(5351), EP300(2033), ABCD3(5825), PEX2(5828), STS(412), PEX5(5830), RPS6KA3(6197), BRWD3(254065), FLNA(2316), PLOD2(5352), FLNB(2317), IDS(3423), SOX10(6663), MID1(4281), SOX2(6657), FLT4(2324), NEU1(4758), FMR1(2332), ELN(2006), TSPYL1(7259), SRD5A2(6716), ARX(170302), MBTPS2(51360), SLC6A5(9152), PLEC(5339), HSPG2(3339), CD96(10225), ZBTB16(7704), ATM(472), PTPN11(5781), FBLN5(10516), FREM2(341640), PITX2(5308), STAR(6770), TP63(8626), FTO(79068), HYLS1(219844), EFNB1(1947), SEMA3E(9723), TPM2(7169), G6PC3(92579)]
ABNORMALITY OF THE MANDIBLE(HP:0000277)	[MYCN(4613), FBN1(2200), FKRP(79147), FBN2(2201), TBX4(9496), ATRX(546), SCN9A(6335), VPS33B(26276), TGFBR2(7048), ATR(545), CCBE1(147372), TGFBR1(7046), MYH3(4621), NSD1(64324), ANCR(282), HSD17B4(3295), H19(283120), TGFB1(7040), GLI3(2737), ESCO2(157570), GLE1(2733), ABAT(18), CDKL5(6792), MYH8(4626), PTCH1(5727), CRLF1(9244), EMG1(10436), GNPTAB(79158), GLB1(2720), SC5DL(6309), CHRNA1(1134), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), LRP5(4041), B3GALTL(145173), PTEN(5728), ROR2(4920), SLC6A8(6535), DDR2(4921), SLC9A6(10479), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), CREBBP(1387), ACTA1(58), PUS1(80324), PTH1R(5745), CHRNB1(1140), MAN2B1(4125), ADAMTS2(9509), UPF3B(65109), LMNA(4000), RAPSN(5913), FGFR1(2260), NBN(4683), MECP2(4204), FGFR2(2263), COL11A2(1302), COL11A1(1301), SLC26A2(1836), SOS1(6654), FGF3(2248), IGF1(3479), CECR(1055), IGBP1(3476), KCNJ2(3759), GPC6(10082), UBE3A(7337), PQBP1(10084), PEX26(55670), BSCL2(26580), ANKH(56172), FOXC2(2303), TBCE(6905), POMGNT1(55624), VPS13B(157680), UBA1(7317), OPHN1(4983), TBX1(6899), TNNI2(7136), ICK(22858), PEX3(8504), TNNT3(7140), NIPBL(25836), LIFR(3977), RUNX2(860), OFD1(8481), TMEM70(54968), KDM5C(8242), FAM123B(139285), DOK7(285489), MOGS(7841), CUL7(9820), SPRED1(161742), DPAGT1(1798), SMS(6611), ATPAF2(91647), CHD7(55636), PEX19(5824), ERBB3(2065), ABCD3(5825), PLA2G6(8398), EP300(2033), PEX2(5828), PEX5(5830), TBX15(6913), RPS6KA3(6197), STRA6(64220), ERCC6(2074), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), BUB1B(701), SOX9(6662), NSDHL(50814), FMR1(2332), DNMT3B(1789), TCOF1(6949), BMP4(652), AP4M1(9179), GALNS(2588), IRF6(3664), D2HGDH(728294), LBR(3930), MKS1(54903), ARX(170302), GNPAT(8443), RECQL4(9401), COL1A1(1277), CTSK(1513), TNFSF11(8600), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), INSR(3643), EHMT1(79813), WHSC1(7468), ERCC8(1161), MUSK(4593), PAX3(5077), ZMPSTE24(10269), EYA1(2138), MED12(9968), PTPN11(5781), DHCR24(1718), DHCR7(1717), DGCR(1714), DYM(54808), SH3PXD2B(285590), WNT3(7473), CLCN7(1186), ALG1(56052), STAT3(6774), PCNT(5116), SOST(50964), FTO(79068), KRAS(3845), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), SHOX(6473), MMP2(4313), GORAB(92344), GBA(2629), TPM2(7169), AGPAT2(10555), RPS19(6223)]
ABNORMALITY OF THE MASTOID(HP:0000264)	[RAG2(5897), RAG1(5896), NBN(4683)]
ABNORMALITY OF THE MAXILLA(HP:0000326)	[FBN1(2200), EP300(2033), UPF3B(65109), TWIST1(7291), FGFR1(2260), ANCR(282), FGFR2(2263), MECP2(4204), PAX3(5077), FLNB(2317), MED12(9968), COL5A2(1290), EDA(1896), COL5A1(1289), ALX3(257), CDKL5(6792), ADAMTS10(81794), FGD1(2245), KCNJ2(3759), UBE3A(7337), PITX2(5308), VPS13B(157680), TP63(8626), IRF6(3664), PTEN(5728), LBR(3930), RAB3GAP2(25782), KDM5C(8242), MMP2(4313), CREBBP(1387), SLC12A6(9990), COL1A1(1277)]
ABNORMALITY OF THE MENINGES(HP:0010651)	[PEX19(5824), ARSE(415), PEX10(5192), PEX14(5195), PEX5(5830), GGCX(2677), PEX13(5194), ATR(545), ERCC8(1161), PEX1(5189), AGPS(8540), PEX7(5191), MGP(4256), PEX3(8504), ERCC6(2074), SUMF1(285362), DDR2(4921), EIF2AK3(9451), EBP(10682), LBR(3930), THRB(7068), NSDHL(50814), NEU1(4758), PEX26(55670)]
ABNORMALITY OF THE METACARPAL BONES(HP:0001163)	[FBN1(2200), GUSB(2990), NPR2(4882), RPS6KA3(6197), SALL4(57167), FBLN1(2192), LMBR1(64327), FLNA(2316), GLI3(2737), FLNB(2317), NOG(9241), ADAMTS10(81794), IFT80(57560), IHH(3549), GLB1(2720), CANT1(124583), SALL1(6299), GALNS(2588), LRP5(4041), B3GALTL(145173), GNASAS(149775), ROR2(4920), DDR2(4921), LBR(3930), RAB3GAP2(25782), SIL1(64374), PTHLH(5744), STX16(8675), BMPR1B(658), TRPS1(7227), EXT2(2132), WHCR(7467), CD96(10225), COMP(1311), WHSC1(7468), EXT1(2131), COL9A3(1299), FGFR1(2260), GDF5(8200), COL11A2(1302), SLC26A2(1836), PTPN11(5781), RMRP(6023), SOS1(6654), DYM(54808), HOXA13(3209), KCNJ2(3759), COL2A1(1280), WNT7A(7476), ACVR1(90), ADAMTSL2(9719), GNAS(2778), VPS13B(157680), PCNT(5116), PORCN(64840), SLC39A13(91252), RUNX2(860), HOXD13(3239), MMP2(4313), CHST3(9469), LEPRE1(64175)]
ABNORMALITY OF THE METAPHYSES(HP:0000944)	[FBN1(2200), ARSB(411), NPR2(4882), NSD1(64324), VDR(7421), FLNA(2316), CTNS(1497), MATN3(4148), SLC35D1(23169), IHH(3549), GNPTAB(79158), TCIRG1(10312), CANT1(124583), GLB1(2720), DYNC2H1(79659), GALNS(2588), LRP5(4041), PEX7(5191), DDR2(4921), LBR(3930), GJA1(2697), SLC17A5(26503), PTH1R(5745), BMPR1B(658), ATP7A(538), HSPG2(3339), COMP(1311), FGFR3(2261), MMP13(4322), COL11A2(1302), CYP2R1(120227), RMRP(6023), CYP27B1(1594), SBDS(51119), DYM(54808), SH3PXD2B(285590), COL2A1(1280), PRG4(10216), ACVR1(90), ANKH(56172), PHEX(5251), CLCN5(1184), PCNT(5116), WISP3(8838), SLC39A13(91252), TFAP2A(7020), LIFR(3977), TRPV4(59341), MMP2(4313), ALPL(249), SLC34A3(142680), CASR(846)]
ABNORMALITY OF THE METATARSAL BONES(HP:0001832)	[FBN1(2200), PEX19(5824), FBN2(2201), ABCD3(5825), GUSB(2990), NPR2(4882), PEX2(5828), TWIST1(7291), PEX5(5830), MYH3(4621), FBLN1(2192), NSD1(64324), LMBR1(64327), ERCC6(2074), FLNA(2316), FLNB(2317), MYH8(4626), CANT1(124583), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), LRP5(4041), PEX7(5191), B3GALTL(145173), DDR2(4921), RAB3GAP2(25782), SIL1(64374), PTHLH(5744), RAB23(51715), TRPS1(7227), WHCR(7467), WHSC1(7468), FGFR1(2260), GDF5(8200), FGFR2(2263), DHCR7(1717), HOXA13(3209), KCNJ2(3759), DYM(54808), COL2A1(1280), WNT7A(7476), PEX26(55670), GNAS(2778), VPS13B(157680), TNNI2(7136), PORCN(64840), PEX3(8504), TNNT3(7140), PHYH(5264), MMP2(4313), HOXD13(3239), TPM2(7169)]
ABNORMALITY OF THE METOPIC SUTURE(HP:0005556)	[INS(3630), KCNJ11(3767), GCK(2645), ADSL(158), ABCC8(6833)]
ABNORMALITY OF THE MIDBRAIN(HP:0002418)	[TMEM67(91147), NPHP1(4867), TMEM216(51259), AHI1(54806), INPP5E(56623), CEP290(80184)]
ABNORMALITY OF THE MIDDLE EAR(HP:0000370)	[FBN1(2200), CCBE1(147372), NSD1(64324), EDNRB(1910), DCR(1637), SLC35C1(55343), RDX(5962), NOG(9241), ALX3(257), CDH23(64072), MYH9(4627), MYO15A(51168), GNPTAB(79158), SC5DL(6309), MYO7A(4647), UQCRB(7381), TMC1(117531), LRP5(4041), IL2RG(3561), POU3F4(5456), GJB2(2706), CACNA1A(773), GJA1(2697), CHRNG(1146), POR(5447), RAB23(51715), TNFRSF11A(8792), ICOS(29851), ACTG1(71), SDHD(6392), FGFR3(2261), GDF5(8200), NBN(4683), FGFR2(2263), BCS1L(617), COL11A2(1302), AAAS(8086), FGF10(2255), FGF3(2248), DSPP(1834), RAG2(5897), RAG1(5896), USH1C(10083), COL2A1(1280), SLC26A4(5172), GDF6(392255), ACVR1(90), OPA1(4976), ANKH(56172), FOXI1(2299), TBX1(6899), PORCN(64840), NIPBL(25836), TAP1(6890), TAP2(6891), FAM123B(139285), ALMS1(7840), TAPBP(6892), CHD7(55636), TMPRSS3(64699), EYA4(2070), GATA1(2623), MGP(4256), GRHL2(79977), FLNA(2316), FLNB(2317), IDS(3423), BTK(695), UQCRQ(27089), LHX3(8022), DIAPH1(1729), TCOF1(6949), OTOF(9381), TRIOBP(11078), CFI(3426), MYH14(79784), LBR(3930), COL1A2(1278), RECQL4(9401), COL1A1(1277), WFS1(7466), SQSTM1(8878), DNAI1(27019), TNFRSF13B(23495), EYA1(2138), HGF(3082), DHCR7(1717), KCNQ4(9132), DGCR(1714), FREM2(341640), TECTA(7007), PCDH15(65217), FRAS1(80144), HYAL1(3373), DCLRE1C(64421), SOST(50964), TP63(8626), TFAP2A(7020), SEMA3E(9723), DFNA5(1687), WAS(7454), PNP(4860)]
ABNORMALITY OF THE MIDDLE EAR OSSICLES(HP:0004452)	[TFAP2A(7020)]
ABNORMALITY OF THE MIDDLE PHALANGES OF THE HAND(HP:0009833)	[MYCN(4613), BMP4(652), TRPS1(7227), FGFR1(2260), GATA1(2623), FGFR3(2261), GDF5(8200), FGFR2(2263), TFAP2B(7021), ROR2(4920), H19(283120), EIF2AK3(9451), RUNX2(860), DCR(1637), SLC26A2(1836), NOG(9241), FGF10(2255), HOXD13(3239), GJA1(2697), HOXA13(3209), COL2A1(1280), IHH(3549), BMPR1B(658)]
ABNORMALITY OF THE MIDDLE PHALANGES OF THE TOES(HP:0010183)	[NOG(9241), GDF5(8200), IHH(3549), BMPR1B(658)]
ABNORMALITY OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009543)	[MYCN(4613), GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE MIDDLE PHALANX OF THE 3RD FINGER(HP:0004172)	[GDF5(8200)]
ABNORMALITY OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0004219)	[MYCN(4613), HOXD13(3239), GJA1(2697), GATA1(2623), GDF5(8200), TFAP2B(7021), ROR2(4920), H19(283120), BMPR1B(658), DCR(1637)]
ABNORMALITY OF THE MIDFACE(HP:0000309)	[FBN1(2200), PEX19(5824), ABCD3(5825), FKRP(79147), ATRX(546), PEX2(5828), TWIST1(7291), PEX5(5830), TGFBR2(7048), PYCR1(5831), MYH3(4621), CCBE1(147372), GATA1(2623), TGFBR1(7046), MGP(4256), FLNA(2316), DCR(1637), FLNB(2317), BUB1B(701), NF1(4763), CRLF1(9244), SLC35D1(23169), DNMT3B(1789), CANT1(124583), TCOF1(6949), BMP4(652), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), SEC23A(10484), PEX7(5191), BLM(641), ROR2(4920), SLC6A8(6535), DDR2(4921), LBR(3930), GJA1(2697), POU1F1(5449), COL1A2(1278), POR(5447), AGL(178), RAI1(10743), PTH1R(5745), RAB23(51715), COL1A1(1277), MAN2B1(4125), CTDP1(9150), HSPG2(3339), EHMT1(79813), SIX3(6496), LMNA(4000), FGFR1(2260), FGFR3(2261), NBN(4683), FGFR2(2263), MECP2(4204), COL11A2(1302), PAX3(5077), COL11A1(1301), SLC26A2(1836), KCNJ2(3759), GPC6(10082), SH3PXD2B(285590), COL2A1(1280), PAK3(5063), PQBP1(10084), PEX26(55670), SHH(6469), GNAS(2778), POMGNT1(55624), SMCR(6600), FOXC1(2296), SOST(50964), TP63(8626), ICK(22858), PEX3(8504), PLOD3(8985), TFAP2A(7020), LIFR(3977), RUNX2(860), EBP(10682), PCCB(5096), ATP6V0A2(23545), GORAB(92344), PVRL1(5818), PCCA(5095)]
ABNORMALITY OF THE MIDNASAL CAVITY(HP:0010641)	[SHH(6469)]
ABNORMALITY OF THE MINERALISATION AND OSSIFICATION OF BONES OF THE FEET(HP:0010675)	[EBP(10682), LBR(3930), MATN3(4148), HOXA13(3209), SLC35D1(23169), LRP5(4041), COL2A1(1280), PTH1R(5745), EIF2AK3(9451), FLNA(2316), CANT1(124583)]
ABNORMALITY OF THE MINERALISATION AND OSSIFICATION OF BONES OF THE HAND(HP:0010660)	[HPGD(3248), GPC3(2719), LMNA(4000), ERCC8(1161), LRP5(4041), ERCC6(2074), DDR2(4921), FLNA(2316), ZMPSTE24(10269), EBP(10682), FAM134B(54463), WNK1(65125), TRPV4(59341), RMRP(6023), MMP2(4313), MATN3(4148), CTSC(1075), HOXA13(3209), SLC35D1(23169), PTH1R(5745), COL3A1(1281), IHH(3549), CTSK(1513), CANT1(124583)]
ABNORMALITY OF THE MINERALISATION OR OSSIFICATION OF THE EPIPHYSES(HP:0010656)	[GDF5(8200), MGP(4256)]
ABNORMALITY OF THE MITRAL VALVE(HP:0001633)	[FBN1(2200), FBN2(2201), TGFBR2(7048), RPS6KA3(6197), TGFBR1(7046), POLG(5428), FLNA(2316), COL5A2(1290), PTPN11(5781), HGD(3081), COL5A1(1289), SOS1(6654), HRAS(3265), FBLN5(10516), ADAMTS10(81794), COL2A1(1280), CBS(875), COL3A1(1281), FMR1(2332), ADAMTSL2(9719), VPS13B(157680), ELN(2006), AGA(175), TNXB(7148), ABCC6(368), BCOR(54880), SLC29A3(55315), VWF(7450), GBA(2629), COL1A2(1278), ZNF469(84627), COL1A1(1277), G6PC3(92579)]
ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547)	[PEX19(5824), PEX5(5830), TBX15(6913), RPS6KA3(6197), VDR(7421), HSD17B4(3295), BRAF(673), B4GALT7(11285), FLNA(2316), SLC16A2(6567), FLNB(2317), MAP2K1(5604), MAP2K2(5605), SOX9(6662), HRAS(3265), MATN3(4148), SLC35D1(23169), GNE(10020), IFT80(57560), IHH(3549), GNPTAB(79158), SEPN1(57190), PEX10(5192), DYNC2H1(79659), PEX14(5195), PEX13(5194), CRTAP(10491), EMD(2010), PEX1(5189), LRP5(4041), DDR2(4921), ACOX1(51), LBR(3930), SLC9A6(10479), GJA1(2697), PDHX(8050), CPT2(1376), MAN2B1(4125), MGAT2(4247), ATP7A(538), TRAPPC2(6399), HSPG2(3339), TRPS1(7227), UPF3B(65109), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), EVC2(132884), FGFR2(2263), ZMPSTE24(10269), CYP2R1(120227), LMX1B(4010), MED12(9968), SLC26A2(1836), PTPN11(5781), CYP27B1(1594), SBDS(51119), DYM(54808), COL2A1(1280), IGF1R(3480), FUCA1(2517), WNT7A(7476), EVC(2121), PQBP1(10084), PEX26(55670), NEB(4703), ADA(100), TRIP11(9321), ICK(22858), TNNT1(7138), KRAS(3845), PEX3(8504), EFNB1(1947), EIF2AK3(9451), RUNX2(860), TRPV4(59341), KDM5C(8242), OFD1(8481), DOK7(285489), GBA(2629), CUL7(9820), SLC34A3(142680), GNPTG(84572), CHST3(9469), RPS19(6223), AR(367), CASR(846), LEPRE1(64175)]
ABNORMALITY OF THE MOTOR NEURONS(HP:0002450)	[CTDP1(9150), SLC25A15(10166), SH3TC2(79628), ZFYVE26(23503), LMNA(4000), GPR56(9289), NEFL(4747), CCT5(22948), SETX(23064), MAPT(4137), GJC2(57165), DCTN1(1639), REEP1(65055), SLC16A2(6567), MED25(81857), SPG20(23111), GLE1(2733), EGR2(1959), PSEN1(5663), HSPB8(26353), ABCB7(22), TREM2(54209), ALS2(57679), RAB7A(7879), GDAP1(54332), SBF2(81846), SMN1(6606), ZFYVE27(118813), PLEKHG5(57449), NIPA1(123606), UBA1(7317), MFN2(9927), SPG11(80208), KIF1B(23095), HSPB1(3315), KIF5A(3798), MTMR2(8898), FGD4(121512), GJB1(2705), PRX(57716), IGHMBP2(3508), MPZ(4359), LITAF(9516), C20orf54(113278), TYROBP(7305), VRK1(7443), PC(5091), PMP22(5376)]
ABNORMALITY OF THE MOUTH(HP:0000153)	[FBN1(2200), FBN2(2201), FKRP(79147), TINF2(26277), VPS33B(26276), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), EDARADD(128178), SLC16A2(6567), SLC35C1(55343), KCNQ1OT1(10984), ABCA1(19), ABAT(18), HRAS(3265), PPIB(5479), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), LYST(1130), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), FKTN(2218), CHRNG(1146), POU1F1(5449), CHRNE(1145), CHRND(1144), ACTA1(58), PUS1(80324), TNFRSF11A(8792), CHRNB1(1140), WNT10A(80326), ACTB(60), SNRPN(6638), FH(2271), UPF3B(65109), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN1C(1028), FAM83H(286077), FGF10(2255), SOS1(6654), FGF3(2248), CECR(1055), FGD1(2245), ACVRL1(94), EDAR(10913), GDF6(392255), ACVR1(90), SMN1(6606), FOXC2(2303), HPGD(3248), FOXC1(2296), ICK(22858), HPS1(3257), WNK1(65125), HOXD13(3239), CUL7(9820), CTSC(1075), SPRED1(161742), SMS(6611), ERBB3(2065), ABCA12(26154), TRIM32(22954), PHOX2B(8929), PRPS1(5631), STRA6(64220), ERCC6(2074), MTM1(4534), MAP2K1(5604), MAP2K2(5605), BLOC1S3(388552), SH3BP2(6452), ADSL(158), MAPK10(5602), HOXA2(3199), AGA(175), SOX18(54345), MSX2(4488), AHCY(191), COL1A2(1278), AGL(178), ZNF469(84627), COL1A1(1277), KIAA1279(26128), MSX1(4487), CNTN1(1272), GJB6(10804), WHCR(7467), SEPT9(10801), WHSC1(7468), SIX3(6496), ERCC8(1161), CEP290(80184), MUSK(4593), EYA1(2138), MED12(9968), TRIM37(4591), WNT3(7473), HEXB(3074), EVC(2121), NOP10(55505), SMARCAL1(50485), CLCN7(1186), FRAS1(80144), SHH(6469), ALDOB(229), SLC39A13(91252), SHOX(6473), ALDH3A2(224), COX4I2(84701), WAS(7454), GORAB(92344), ALPL(249), F10(2159), LEPRE1(64175), SCN9A(6335), CLDN1(9076), ANCR(282), NSD1(64324), HPS5(11234), VDR(7421), MAT1A(4143), SLC6A19(340024), FERMT1(55612), ESCO2(157570), ALX3(257), AMELY(266), GNE(10020), AMELX(265), SC5DL(6309), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), UROS(7390), IL2RG(3561), SLC17A5(26503), CREBBP(1387), CNNM4(26504), SLC12A6(9990), CPT2(1376), MAN2B1(4125), PDHA1(5160), COL17A1(1308), NHP2(55651), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), COL5A2(1290), AIRE(326), COL6A1(1291), APC(324), COL5A1(1289), COL7A1(1294), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), COL2A1(1280), IGF1R(3480), FUCA1(2517), UBE3A(7337), COL3A1(1281), PQBP1(10084), TTC8(123016), PEX26(55670), BSCL2(26580), POMGNT1(55624), UBB(7314), SLC37A4(2542), VPS13B(157680), UBA1(7317), SLC39A4(55630), ABCC6(368), IL1RAPL1(11141), PLOD3(8985), GAA(2548), AR(367), ATPAF2(91647), CHD7(55636), ARSB(411), PLOD1(5351), FOXE1(2304), TWIST1(7291), LARGE(9215), RPS6KA3(6197), MGP(4256), FLNA(2316), FLNB(2317), IDS(3423), MID1(4281), PMM2(5373), FMR1(2332), AP4M1(9179), TSPYL1(7259), TSHB(7252), TSC1(7248), TSC2(7249), ENAM(10117), ASCL1(429), ARX(170302), ORAI1(84876), MBTPS2(51360), PLG(5340), CTSK(1513), PLEC(5339), MGAT2(4247), CTDP1(9150), ATP1A3(478), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), ATIC(471), LMBRD1(55788), PITX2(5308), ALG3(10195), PHEX(5251), HYAL1(3373), DCLRE1C(64421), FTO(79068), HYLS1(219844), ANTXR2(118429), MMP2(4313), ATP2A2(488), HPS4(89781), TPM2(7169), RPS19(6223), TPM3(7170), G6PC3(92579), SH3TC2(79628), RET(5979), AVP(551), ATRX(546), TGIF1(7050), TGFBR2(7048), ATR(545), TGFBR1(7046), TGFB1(7040), GLI3(2737), DCR(1637), SATB2(23314), GLE1(2733), NOG(9241), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), EMG1(10436), GLB1(2720), GPC3(2719), NTRK1(4914), CRTAP(10491), SEC23A(10484), ROR2(4920), DDR2(4921), MCPH1(79648), GJB2(2706), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), ATP7B(540), PROKR2(128674), DBH(1621), ATP7A(538), KCNJ11(3767), GP1BA(2811), MKKS(8195), RAPSN(5913), OCRL(4952), FGF23(8074), BDNF(627), GNS(2799), CYP27B1(1594), KCNJ2(3759), DTNBP1(84062), ABHD5(51099), GNAS(2778), TNFRSF11B(4982), KAL1(3730), BBS1(582), BBS2(583), OPHN1(4983), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), BBS10(79738), TMEM70(54968), KDM5C(8242), FAM123B(139285), DOK7(285489), RB1(5925), PLA2G6(8398), TBX15(6913), ARL6(84100), GATA1(2623), TBX3(6926), TCF4(6925), ITK(3702), BRAF(673), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ITGB2(3689), BUB1B(701), ALS2(57679), KL(9365), SLC46A1(113235), TCIRG1(10312), DNMT3B(1789), TCOF1(6949), TCN2(6948), BMP4(652), ITGA2B(3674), BCOR(54880), DLAT(1737), GALNS(2588), DKC1(1736), IRF6(3664), GALNT3(2591), BLM(641), FOXL2(668), MKS1(54903), DLX3(1747), C20orf54(113278), GNPAT(8443), RECQL4(9401), PDHX(8050), HPS6(79803), POMT2(29954), ITGA6(3655), EHMT1(79813), INSR(3643), PAX3(5077), ZMPSTE24(10269), INS(3630), DHCR24(1718), RMRP(6023), CA2(760), DHCR7(1717), DGCR(1714), AHI1(54806), FAM20C(56975), DYM(54808), SAMD9(54809), SH3PXD2B(285590), PAK3(5063), GDNF(2668), TEK(7010), HGSNAT(138050), ALG1(56052), GCK(2645), PCNT(5116), TERC(7012), CLCF1(23529), TERT(7015), SOST(50964), CHST14(113189), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), PCCB(5096), TBX22(50945), ATP6V0A2(23545), GBA(2629), CHST3(9469), PCCA(5095), MYCN(4613), TBX4(9496), BBS5(129880), SLURP1(57152), MYH3(4621), EDN3(1908), EDA(1896), IKBKG(8517), IKBKAP(8518), CDKL5(6792), MYH8(4626), STK11(6794), PTCH1(5727), SEPN1(57190), LRP5(4041), PTEN(5728), ABCC8(6833), VSX1(30813), LTBP3(4054), AP3B1(8546), PTHLH(5744), NAGA(4668), RAB23(51715), PTH1R(5745), SUOX(6821), ADAMTS2(9509), LMNA(4000), EVC2(132884), NBN(4683), PRPS2(5634), LMX1B(4010), SLC26A2(1836), SPG20(23111), CUL4B(8450), NDN(4692), DSP(1832), DSPP(1834), CBS(875), NEB(4703), ANKH(56172), TBCE(6905), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), LIFR(3977), RUNX2(860), OFD1(8481), BBS7(55212), ALMS1(7840), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), CD40LG(959), PEX2(5828), KLK4(9622), PEX5(5830), RBM28(55131), SOX9(6662), ENG(2022), NSDHL(50814), SLC35D1(23169), ANO5(203859), POMT1(10585), LAMB3(3914), LAMC2(3918), VPS13A(23230), D2HGDH(728294), LAMA3(3909), LBR(3930), ELANE(1991), NFKBIA(4792), TNFSF11(8600), NHS(4810), ZBTB16(7704), NGF(4803), KRT17(3872), CDH3(1001), PTPN11(5781), FREM2(341640), KRT6B(3854), ADAMTSL2(9719), ST14(6768), KRT6A(3853), STAT3(6774), KRT4(3851), NLRP3(114548), TP63(8626), KRAS(3845), EFNB1(1947), MMACHC(25974), SEMA3E(9723), KRT16(3868), AGPAT2(10555), KRT14(3861), KRT13(3860), PVRL1(5818)]
ABNORMALITY OF THE MUSCULATURE OF THE HAND(HP:0001421)	[TRPV4(59341), ABCA1(19), FGF10(2255), MYH7(4625), ALS2(57679), C20orf54(113278), NEFL(4747), HOXA13(3209), SALL4(57167), FGFR3(2261), DCTN1(1639)]
ABNORMALITY OF THE MUSCULATURE OF THE LIMBS(HP:0009127)	[VCP(7415), FBN2(2201), FKRP(79147), MYOT(9499), TRIM32(22954), NEFL(4747), SALL4(57167), SGCB(6443), PRPS1(5631), SGCA(6442), CAPN3(825), SGCG(6445), DCTN1(1639), FLNA(2316), ABCA1(19), ALX3(257), MYH7(4625), TTN(7273), TREX1(11277), RAB7A(7879), ALS2(57679), MATR3(9782), ANO5(203859), SBF2(81846), LYST(1130), HSPB1(3315), KIF1B(23095), DYSF(8291), PRX(57716), LBR(3930), MPZ(4359), C20orf54(113278), TCAP(8557), DMD(1756), TRPS1(7227), LMNA(4000), RAPSN(5913), FGFR3(2261), PAX3(5077), PRPS2(5634), EYA1(2138), LMX1B(4010), PTPN11(5781), CRYAB(1410), FGF10(2255), EGR2(1959), HOXA13(3209), KCNJ2(3759), GDAP1(54332), MFN2(9927), TBX5(6910), CAV3(859), DES(1674), TRPV4(59341), KDM5C(8242), ATP6V0A2(23545), TPM2(7169), AR(367), PMP22(5376), FHL1(2273)]
ABNORMALITY OF THE MUSCULATURE OF THE LOWER LIMBS(HP:0001437)	[FBN2(2201), FKRP(79147), LMNA(4000), TRIM32(22954), NEFL(4747), PRPS1(5631), SGCA(6442), SGCG(6445), DCTN1(1639), LMX1B(4010), PRPS2(5634), CRYAB(1410), EGR2(1959), MYH7(4625), TTN(7273), TREX1(11277), RAB7A(7879), GDAP1(54332), ANO5(203859), SBF2(81846), LYST(1130), MFN2(9927), HSPB1(3315), KIF1B(23095), DYSF(8291), CAV3(859), PRX(57716), DES(1674), TRPV4(59341), LBR(3930), KDM5C(8242), MPZ(4359), AR(367), TCAP(8557), PMP22(5376), DMD(1756), FHL1(2273)]
ABNORMALITY OF THE MUSCULATURE OF THE PELVIS(HP:0001469)	[MYOT(9499), LMNA(4000), TRIM32(22954), SGCB(6443), ANO5(203859)]
ABNORMALITY OF THE MUSCULATURE OF THE THIGH(HP:0001441)	[LMNA(4000)]
ABNORMALITY OF THE MUSCULATURE OF THE THORAX(HP:0009131)	[SALL4(57167)]
ABNORMALITY OF THE MUSCULATURE OF THE UPPER ARM(HP:0001457)	[LMX1B(4010)]
ABNORMALITY OF THE MUSCULATURE OF THE UPPER LIMBS(HP:0001446)	[VCP(7415), FKRP(79147), TRPS1(7227), MYOT(9499), LMNA(4000), TRIM32(22954), NEFL(4747), SALL4(57167), FGFR3(2261), SGCB(6443), CAPN3(825), DCTN1(1639), FLNA(2316), PAX3(5077), LMX1B(4010), EYA1(2138), PTPN11(5781), ABCA1(19), FGF10(2255), ALX3(257), MYH7(4625), ALS2(57679), HOXA13(3209), KCNJ2(3759), MATR3(9782), ANO5(203859), TBX5(6910), TRPV4(59341), ATP6V0A2(23545), C20orf54(113278), TPM2(7169), FHL1(2273)]
ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924)	[FBN1(2200), FBN2(2201), SLC34A1(6569), HIBCH(26275), SUCLG1(8802), FBP1(2203), SUCLA2(8803), TINF2(26277), VPS33B(26276), SPINK5(11005), SACS(26278), CCBE1(147372), FBLN1(2192), REEP1(65055), DPM1(8813), EDARADD(128178), SLC16A1(6566), TRPM6(140803), SLC16A2(6567), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), ABCA1(19), ABAT(18), HESX1(8820), FANCD2(2177), FANCC(2176), FANCE(2178), ACADM(34), ACADS(35), ACADL(33), ACADSB(36), ACADVL(37), SLC6A3(6531), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPL(4352), MPZ(4359), SLC12A3(6559), MPV17(4358), ACP2(53), SLC12A1(6557), ACTA1(58), PUS1(80324), TNFRSF11A(8792), ACTB(60), SNRPN(6638), FH(2271), UPF3B(65109), LHX4(89884), FGFR1(2260), FGFR3(2261), FGFR2(2263), FGF14(2259), FAM134B(54463), FGF10(2255), SOS1(6654), HSPB8(26353), FGF3(2248), FGD1(2245), ACY1(95), SOD1(6647), ACVRL1(94), EDAR(10913), GDF6(392255), ACVR1(90), PTRF(284119), SMN1(6606), FOXC2(2303), ADA(100), SMCR(6600), NDUFA11(126328), WNK1(65125), TRPV4(59341), SMS(6611), TUBB2B(347733), SMPD1(6609), FHL1(2273), ERBB3(2065), ABCA12(26154), ERCC2(2068), SFTPB(6439), ERCC3(2071), SFTPC(6440), SGCB(6443), SGCA(6442), ERCC6(2074), SGCG(6445), MTM1(4534), SGSH(6448), MTHFR(4524), TMEM67(91147), ADSL(158), AGA(175), SPG11(80208), AFP(174), SGCE(8910), MTMR2(8898), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), MIPOL1(145282), NR0B1(190), AGXT(189), AGL(178), ACAN(176), KIAA1279(26128), JAG1(182), AGT(183), GJB6(10804), EXT2(2132), SQSTM1(8878), SEPT9(10801), SIX3(6496), EXT1(2131), ST3GAL5(8869), CEP290(80184), MVK(4598), MUSK(4593), EYA1(2138), MUT(4594), EIF2B2(8892), EIF2B5(8893), TRIM37(4591), SLC2A1(6513), EIF2B4(8890), SLC2A2(6514), SLC17A3(10786), EIF2B3(8891), GDAP1(54332), ABCD1(215), EVC(2121), SLC4A1(6521), PHGDH(26227), ALAD(210), PCDH15(65217), SMARCAL1(50485), FRAS1(80144), SHH(6469), F13A1(2162), FANCA(2175), WISP3(8838), TSEN54(283989), SLC39A13(91252), ALDOA(226), SHOX(6473), ALDH3A2(224), MTRR(4552), ALPL(249), F9(2158), F10(2159), F8(2157), AMT(275), BIN1(274), SCN4A(6329), SCN9A(6335), ANCR(282), MAPT(4137), POLG2(11232), SLC7A7(9056), ALX3(257), MATN3(4148), PAPSS2(9060), MC2R(4158), AMPD1(270), ATXN1(6310), ATXN2(6311), SC5DL(6309), SALL1(6299), RAB39B(116442), AIP(9049), CHEK2(11200), PSTPIP1(9051), GNASAS(149775), C10orf2(56652), SLC25A4(291), FSHR(2492), SLC17A5(26503), SEC63(11231), MAN2B1(4125), MANBA(4126), TRAPPC2(6399), SDHA(6389), INPP5E(56623), MECP2(4204), PDP1(54704), MEFV(4210), LEMD3(23592), PDSS1(23590), FUCA1(2517), MEN1(4221), BSCL2(26580), SLC37A4(2542), ABCC6(368), G6PC(2538), HSPB3(8988), PLOD3(8985), PANK2(80025), GAA(2548), AR(367), UGT1A1(54658), ATPAF2(91647), LDB3(11155), ARSA(410), ARSB(411), ARSE(415), LARGE(9215), RPS6KA3(6197), MGP(4256), BRWD3(254065), FLNC(2318), FLNA(2316), FLNB(2317), MID1(4281), ATXN3(4287), SLC33A1(9197), FMR1(2332), AP4M1(9179), ASPA(443), ASAH1(427), SLC6A5(9152), MGAT2(4247), CTDP1(9150), RYR1(6261), ATM(472), ATIC(471), MMP13(4322), MPI(4351), FXN(2395), MOCS2(4338), MOCS1(4337), ALDH7A1(501), HYLS1(219844), ANTXR2(118429), MMP2(4313), ATP2A2(488), RPS19(6223), ATP2A1(487), TH(7054), AVP(551), ATRX(546), NPR2(4882), TGFBR2(7048), ATR(545), TGFBR1(7046), GLRB(2743), GLRA1(2741), TGFB1(7040), MCCC1(56922), GLI3(2737), B2M(567), GLE1(2733), THRB(7068), GLDC(2731), NPHP1(4867), THPO(7066), GCLC(2729), NPC1(4864), EMG1(10436), GLB1(2720), TK2(7084), COLQ(8292), GLA(2717), GPC3(2719), NKX2-1(7080), NTRK1(4914), DYSF(8291), MRPS22(56945), CRTAP(10491), SEC23A(10484), GK(2710), ROR2(4920), GJB1(2705), DDR2(4921), GJB2(2706), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), ATP7B(540), GH1(2688), GHR(2690), ATP7A(538), MKKS(8195), FBXO7(25793), NDRG1(10397), GDF5(8200), OCRL(4952), BCS1L(617), COL18A1(80781), GNS(2799), TUBB3(10381), SBDS(51119), GNRH1(2796), TNFRSF1A(7132), OAT(4942), OPA1(4976), ABHD5(51099), GNAS(2778), TNXB(7148), TNFRSF11B(4982), BBS1(582), BBS2(583), OPHN1(4983), TNNI2(7136), BBS4(585), TNNT1(7138), TNNT3(7140), NIPBL(25836), BCKDHA(593), GM2A(2760), TMEM70(54968), BCKDHB(594), KDM5C(8242), OGDH(4967), TPI1(7167), TP53(7157), SDHAF1(644096), PLA2G6(8398), BTD(686), TBXAS1(6916), ATL1(51062), TBX15(6913), EFEMP2(30008), GATA1(2623), TBX3(6926), TCF4(6925), BRAF(673), GARS(2617), BUB1B(701), HNF1B(6928), GAMT(2593), SLC46A1(113235), BTK(695), TCIRG1(10312), TCOF1(6949), PAH(5053), GALC(2581), TCN2(6948), BMP4(652), GALE(2582), PAFAH1B1(5048), BCOR(54880), GALNS(2588), GALNT3(2591), BLM(641), PSAT1(29968), MKS1(54903), C20orf54(113278), GNPAT(8443), DMGDH(29958), MRPS16(51021), BMPR1A(657), BMPR1B(658), POMT2(29954), GAD1(2571), GGCX(2677), B4GALT1(2683), FZD4(8322), PAX3(5077), ZMPSTE24(10269), GPHN(10243), CA2(760), GDF1(2657), AHI1(54806), FAM20C(56975), DYM(54808), GFAP(2670), PAK3(5063), C1R(715), GCH1(2643), COQ9(57017), GCK(2645), PCNT(5116), TERC(7012), TERT(7015), SOST(50964), CHST14(113189), TF(7018), GCSH(2653), TFAP2B(7021), TFAP2A(7020), PCCB(5096), GBA(2629), GBE1(2632), APTX(54840), PC(5091), PCBD1(5092), GCDH(2639), CABC1(56997), PCCA(5095), MYCN(4613), GUSB(2990), SLURP1(57152), SALL4(57167), MYH3(4621), AGPS(8540), GJC2(57165), CAPN3(825), MYF6(4618), IKBKG(8517), IKBKAP(8518), PDE11A(50940), CDKL5(6792), MYH7(4625), MYH8(4626), STK11(6794), STIM1(6786), CANT1(124583), YARS(8565), MYO5A(4644), SLC25A20(788), SEPN1(57190), PRKRA(8575), MCOLN1(57192), SURF1(6834), ABCC8(6833), CACNA1C(775), CACNA1A(773), AP3B1(8546), RAI1(10743), NAGA(4668), NAGLU(4669), SUOX(6821), TCAP(8557), ICOS(29851), CACNA1S(779), HCCS(3052), KRIT1(889), EVC2(132884), ALG6(29929), HBB(3043), NBN(4683), CYP2R1(120227), NCF2(4688), PDSS2(57107), SERPINA6(866), CUL4B(8450), NDN(4692), NDUFA1(4694), NDUFA2(4695), CBS(875), HCRT(3060), SYN1(6853), NEB(4703), ALX4(60529), TBCE(6905), TBX5(6910), TBX1(6899), CAV3(859), ATCAY(85300), PORCN(64840), PEX3(8504), NDUFS1(4719), TAZ(6901), RUNX2(860), EBP(10682), TAP1(6890), NDUFS3(4722), TAP2(6891), NDUFV1(4723), DLL3(10683), NDUFS2(4720), HADHB(3032), HADH(3033), OFD1(8481), BBS7(55212), NDUFS6(4726), CLDN16(10686), TAPBP(6892), NDUFS4(4724), AGRN(375790), NDUFS8(4728), CASR(846), HADHA(3030), HSD17B10(3028), SLC19A2(10560), NEFL(4747), SPG7(6687), SLC34A2(10568), NDUFAF2(91942), RBM28(55131), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), NF1(4763), NSDHL(50814), NEU1(4758), ANO5(203859), POMT1(10585), GPI(2821), NDUFAF3(25915), D2HGDH(728294), NF2(4771), PNPO(55163), GFM1(85476), SPINK1(6690), NFKBIA(4792), THAP1(55145), STX16(8675), SPR(6697), TNFSF11(8600), NHS(4810), SLC25A12(8604), NGF(4803), CDH3(1001), FBLN5(10516), GSN(2934), NME1(4830), RNASET2(8635), STAT3(6774), STAT1(6772), TP63(8626), MMACHC(25974), SSTR5(6755), PNP(4860), SLC34A3(142680), AGPAT2(10555), SPTLC1(10558), FKRP(79147), CHAT(1103), MMADHC(27249), MCCC2(64087), HSD17B4(3295), H19(283120), SLC35C1(55343), HRAS(3265), COQ2(27235), DOLK(22845), CTSA(5476), PPIB(5479), MATR3(9782), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), PPARG(5468), NOD2(64127), LYST(1130), HSPB1(3315), POU3F4(5456), SLC29A3(55315), HSF4(3299), C20orf7(79133), CHRNG(1146), POU1F1(5449), CHRNE(1145), CHRND(1144), POR(5447), CHRNB1(1140), ZEB2(9839), CDKN1B(1027), BBS12(166379), CDKN1C(1028), POLG(5428), POLH(5429), HOXA11(3207), CECR(1055), HOXA13(3209), ASPM(259266), C8orf38(137682), CES1(1066), CNBP(7555), HPRT1(3251), HPGD(3248), SFTPA2(729238), ICK(22858), HOXD13(3239), FASTKD2(22868), HOXD10(3236), CUL7(9820), CTSC(1075), GNPTG(84572), SPRED1(161742), PMP22(5376), PRNP(5621), TRIM32(22954), CCT5(22948), PRPS1(5631), ROBO3(64221), STRA6(64220), PRODH(5625), KIAA0196(9897), MAP2K1(5604), MAP2K2(5605), HMBS(3145), ZIC1(7545), MAPK10(5602), FAM126A(84668), HLCS(3141), PRKCSH(5589), ABCG8(64241), ABCG5(64240), XDH(7498), FGD4(121512), WT1(7490), VMA21(203547), PRKAR1A(5573), COL1A2(1278), ZNF469(84627), COL1A1(1277), RAB3GAP1(22930), XPA(7507), CNTN1(1272), WHCR(7467), WFS1(7466), WHSC1(7468), ERCC8(1161), MED12(9968), WNT10B(7480), HGD(3081), PPT1(5538), NCF1(653361), WRN(7486), WNT3(7473), HEXA(3073), HEXB(3074), CLCN1(1180), WNT7A(7476), HFE(3077), CLCNKA(1187), NOP10(55505), CLCN7(1186), FRMD7(90167), CLCN5(1184), MFN2(9927), VLDLR(7436), CLCNKB(1188), COX4I2(84701), PPP1R3A(5506), VWF(7450), WAS(7454), GORAB(92344), VRK1(7443), MNX1(3110), LEPRE1(64175), VCP(7415), CPT1A(1374), PGK1(5230), CPOX(1371), PGAM2(5224), NSD1(64324), VDR(7421), LMBR1(64327), FERMT1(55612), ESCO2(157570), COX15(1355), KIF21A(55605), PGM1(5236), GNE(10020), IHH(3549), UQCRB(7381), UPK3A(7380), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), UROS(7390), IL2RG(3561), UQCRC1(7384), SCO2(9997), PFKM(5213), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), UMOD(7369), IFNGR1(3459), PDHA1(5160), COMP(1311), ENPP1(5167), COL17A1(1308), COL9A3(1299), COL9A2(1298), NHP2(55651), COL9A1(1297), TSFM(10102), COL11A2(1302), COL11A1(1301), PDGFRA(5156), COL5A2(1290), COL6A1(1291), COL5A1(1289), COL7A1(1294), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), IGF1R(3480), COL2A1(1280), UBE3A(7337), COL3A1(1281), PQBP1(10084), TTC8(123016), PEX26(55670), POMGNT1(55624), VPS13B(157680), UBA1(7317), COX6B1(1340), TXNDC3(51314), IGHMBP2(3508), TYROBP(7305), CHD7(55636), SLC25A15(10166), PLOD1(5351), TWIST1(7291), SERPINF2(5345), PLP1(5354), PLOD2(5352), CTNS(1497), IDS(3423), TTR(7276), TTN(7273), AASS(10157), PMM2(5373), NKX2-5(1482), LRPPRC(10128), TSPYL1(7259), TSHB(7252), TSHR(7253), SP110(3431), CYBA(1535), TSC1(7248), PLA2G2A(5320), TSC2(7249), CFI(3426), CTSD(1509), ARX(170302), ORAI1(84876), MBTPS2(51360), PLG(5340), CTSK(1513), PLEC(5339), HSPG2(3339), MBD5(55777), TRPS1(7227), CD96(10225), HSPD1(3329), LMBRD1(55788), CRYAB(1410), PITX1(5307), PRG4(10216), TRH(7200), PITX2(5308), ALG3(10195), MMAB(326625), PHEX(5251), HYAL1(3373), PHKA1(5255), CDK5RAP2(55755), PHKB(5257), FTO(79068), PHKG2(5261), CSF3R(1441), PHYH(5264), TPM2(7169), TPM3(7170), G6PC3(92579), SH3TC2(79628), RET(5979), CENPJ(55835), DCX(1641), MMAA(166785), DDC(1644), GAN(8139), VAPB(9217), DCTN1(1639), ACE(1636), REN(5972), DCR(1637), NOG(9241), GCM2(9247), KIT(3815), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), SBF2(81846), DYNC2H1(79659), KIF5A(3798), MCPH1(79648), SYNE1(23345), DBT(1629), KCNQ2(3785), VANGL1(81839), KCNJ10(3766), NDUFS7(374291), KCNJ11(3767), GPR56(9289), RAPSN(5913), FGF23(8074), MED25(81857), AAAS(8086), KCNC3(3748), CYP27B1(1594), RAG2(5897), CYP27A1(1593), RAG1(5896), KCNJ2(3759), KCNJ1(3758), CYP21A2(1589), CYP19A1(1588), CYP11B1(1584), TRIP11(9321), KAL1(3730), NDUFAF4(29078), CYBB(1536), KCNA1(3736), PABPN1(8106), JAK2(3717), BBS10(79738), ZFPM2(23414), SNAP29(9342), FAM123B(139285), DOK7(285489), RB1(5925), MLYCD(23417), SLC25A22(79751), DMPK(1760), ZIC4(84107), ARL6(84100), B4GALT7(11285), ITGB4(3691), ALS2(57679), TREX1(11277), KL(9365), SLC9A3R1(9368), DNM2(1785), LHX3(8022), DNMT3B(1789), ZFYVE27(118813), DLAT(1737), DKC1(1736), IRF6(3664), DLD(1738), PRX(57716), DLX3(1747), RECQL4(9401), PDHX(8050), ETHE1(23474), DMD(1756), ISCU(23479), DMP1(1758), ITGA6(3655), ZFYVE26(23503), EHMT1(79813), INSR(3643), ACAD9(28976), TNFRSF13B(23495), CYP7B1(9420), INS(3630), DHCR24(1718), RMRP(6023), DGUOK(1716), DHCR7(1717), DGCR(1714), OSTM1(28962), CYB5R3(1727), SH3PXD2B(285590), HGSNAT(138050), ALG1(56052), CLCF1(23529), SHFM1(7979), DECR1(1666), TIMM8A(1678), EIF2AK3(9451), DES(1674), ATP6V0A2(23545), IL12B(3593), CHST3(9469), TBX4(9496), MYOT(9499), BBS5(129880), SETX(23064), EPCAM(4072), EDNRB(1910), EDA(1896), RAB7A(7879), PTCH1(5727), SMAD4(4089), TYMP(1890), IFT80(57560), ECM1(1893), BAG3(9531), NIPA1(123606), KIF1B(23095), PTH(5741), LRP2(4036), LRP5(4041), PTEN(5728), UPB1(51733), LTBP3(4054), LITAF(9516), ALDH5A1(7915), PTHLH(5744), RAB23(51715), PTH1R(5745), TOR1A(1861), ADAMTS2(9509), PRSS1(5644), LMNA(4000), LOX(4015), PRPS2(5634), LMX1B(4010), PSAP(5660), SLC26A2(1836), SPG20(23111), PHF6(84295), DSP(1832), BSND(7809), TREM2(54209), RELN(5649), ANKH(56172), TUBA8(51807), DRD2(1813), LIFR(3977), DPYD(1806), TUBA1A(7846), DPYS(1807), LIPA(3988), ALMS1(7840), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), KLK4(9622), PEX5(5830), PYCR1(5831), ALDH18A1(5832), LDHA(3939), PYGM(5837), ENG(2022), UQCRQ(27089), SLC35D1(23169), ENO3(2027), LPIN1(23175), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), SYNE2(23224), LAMB2(3913), LAMC2(3918), VPS13A(23230), QDPR(5860), EMD(2010), LAMA2(3908), LAMA3(3909), LBR(3930), MLC1(23209), LAMP2(3920), ZBTB16(7704), DNAI1(27019), PTPN11(5781), EGR2(1959), L1CAM(3897), EIF2B1(1967), FREM2(341640), ADAMTSL2(9719), NLRP3(114548), KRAS(3845), PTS(5805), EFNB1(1947), SUMF1(285362), SEMA3E(9723), PVRL1(5818)]
ABNORMALITY OF THE MYOCARDIUM(HP:0001637)	[SCN5A(6331), FKRP(79147), MYOT(9499), NSD1(64324), HPS5(11234), TGFB3(7043), H19(283120), DNAJC19(131118), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), HRAS(3265), MYH7(4625), DOLK(22845), UBR1(197131), GNPTAB(79158), GLB1(2720), BAG3(9531), UQCRB(7381), ACADS(35), SLC25A20(788), ACADL(33), GPC3(2719), ACADVL(37), MRPS22(56945), AIP(9049), PEX7(5191), MYLK2(85366), C10orf2(56652), SCO2(9997), FKTN(2218), RAB3GAP2(25782), SLC25A4(291), C20orf7(79133), ACTA1(58), TCAP(8557), CPT2(1376), ACTC1(70), HCCS(3052), LMNA(4000), SDHA(6389), BCS1L(617), CDKN1C(1028), POLG(5428), TSFM(10102), PRPS2(5634), PDGFRA(5156), DSP(1832), SBDS(51119), NDUFA1(4694), DSG2(1829), DTNBP1(84062), BSCL2(26580), JUP(3728), COX6B1(1340), ABCC6(368), HPS3(84343), CAV3(859), TNNI3(7137), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), TNNT2(7139), NDUFS1(4719), TAZ(6901), NDUFV1(4723), NDUFS2(4720), HADHB(3032), TMEM70(54968), HADH(3033), NDUFS6(4726), FASTKD2(22868), NDUFS4(4724), ALMS1(7840), ATPAF2(91647), HADHA(3030), SDHAF1(644096), MLYCD(23417), FHL1(2273), LDB3(11155), ERBB3(2065), ARSB(411), SGCB(6443), PRPS1(5631), NDUFAF2(91942), BRAF(673), MAP2K1(5604), MAP2K2(5605), TTR(7276), BLOC1S3(388552), TTN(7273), UQCRQ(27089), PMM2(5373), NEU1(4758), PKP2(5318), SYNE2(23224), NDUFAF3(25915), D2HGDH(728294), AHCY(191), CSRP3(8048), AGL(178), LAMP2(3920), DMD(1756), HPS6(79803), RYR2(6262), MYBPC3(4607), WFS1(7466), ACAD9(28976), PRKAG2(51422), MUT(4594), PTPN11(5781), CRYAB(1410), TRIM37(4591), GSN(2934), FXN(2395), HFE(3077), ALG1(56052), FTO(79068), KRAS(3845), DES(1674), PCCB(5096), SSTR5(6755), PHYH(5264), HPS4(89781), GBE1(2632), TPM1(7168), PCCA(5095)]
ABNORMALITY OF THE NAILS(HP:0001597)	[TBX4(9496), TINF2(26277), NPR2(4882), SLURP1(57152), NSD1(64324), LMBR1(64327), DPM1(8813), EDARADD(128178), GLI3(2737), FERMT1(55612), EDA(1896), IKBKG(8517), NOG(9241), ABCA1(19), HRAS(3265), RAB7A(7879), IHH(3549), UBR1(197131), GPC3(2719), NTRK1(4914), SAT1(6303), UROD(7389), ROR2(4920), GJB2(2706), GTF2H5(404672), RAB3GAP2(25782), WNT10A(80326), CPT2(1376), COL17A1(1308), FGFR1(2260), EVC2(132884), NHP2(55651), GDF5(8200), FGFR2(2263), LOR(4014), LMX1B(4010), COL7A1(1294), DSP(1832), FOXN1(8456), ACVRL1(94), EDAR(10913), CD82(3732), SLC39A4(55630), PORCN(64840), PLOD3(8985), WNK1(65125), OFD1(8481), TGM5(9333), CTSC(1075), ERCC2(2068), ERCC3(2071), RPS6KA3(6197), FLNA(2316), FLNB(2317), ITGB4(3691), FLT4(2324), TREX1(11277), ENG(2022), NSDHL(50814), RSPO4(343637), LAMB3(3914), LAMC2(3918), SOX18(54345), DKC1(1736), IRF6(3664), TSC1(7248), TSC2(7249), LAMA3(3909), LBR(3930), DLX3(1747), ARX(170302), RECQL4(9401), CTSK(1513), POMP(51371), MSX1(4487), PLEC(5339), ITGA6(3655), GJB6(10804), TRPS1(7227), WHCR(7467), KRT81(3887), INSR(3643), WHSC1(7468), KRT17(3872), ZMPSTE24(10269), CDH3(1001), KRT86(3892), KRT83(3889), EVC(2121), KRT85(3891), NOP10(55505), KRT6B(3854), ADAMTSL2(9719), KRT5(3852), ST14(6768), KRT6A(3853), ALG3(10195), TERC(7012), KRT1(3848), TERT(7015), SOST(50964), TP63(8626), FTO(79068), EFNB1(1947), TFAP2A(7020), ALDH3A2(224), KRT16(3868), ATP2A2(488), KRT14(3861), CARD9(64170), PVRL1(5818), KRT10(3858)]
ABNORMALITY OF THE NARES(HP:0005288)	[MYCN(4613), PEX19(5824), ATRX(546), PEX5(5830), RPS6KA3(6197), FLNB(2317), GLI3(2737), ESCO2(157570), MID1(4281), BUB1B(701), HRAS(3265), ADSL(158), CRLF1(9244), GNPTAB(79158), SC5DL(6309), LRPPRC(10128), AGA(175), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), ROR2(4920), ABCC8(6833), GJA1(2697), POU1F1(5449), SLC17A5(26503), GNPAT(8443), AGL(178), KCNJ11(3767), FH(2271), CD96(10225), EHMT1(79813), FGFR1(2260), ATIC(471), INPP5E(56623), COL11A2(1302), COL11A1(1301), INS(3630), DHCR7(1717), GNS(2799), AHI1(54806), FGD1(2245), COL2A1(1280), FREM2(341640), PEX26(55670), FRAS1(80144), ADAMTSL2(9719), GCK(2645), TRIP11(9321), FTO(79068), PEX3(8504), PLOD3(8985), NIPBL(25836), OFD1(8481), ATP6V0A2(23545), GBA(2629), CUL7(9820)]
ABNORMALITY OF THE NASAL ALA(HP:0000429)	[MYCN(4613), PEX19(5824), ATRX(546), PEX5(5830), RPS6KA3(6197), MYH3(4621), MGP(4256), GLI3(2737), FLNB(2317), EDA(1896), ESCO2(157570), NOG(9241), MID1(4281), BUB1B(701), HRAS(3265), MITF(4286), ADSL(158), CRLF1(9244), UBR1(197131), GNPTAB(79158), SC5DL(6309), AGA(175), LRPPRC(10128), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), ROR2(4920), ABCC8(6833), GJA1(2697), POU1F1(5449), SLC17A5(26503), GNPAT(8443), AGL(178), RECQL4(9401), PLEC(5339), KCNJ11(3767), TRPS1(7227), PDHA1(5160), FH(2271), CD96(10225), EHMT1(79813), FGFR1(2260), ATIC(471), INPP5E(56623), COL11A2(1302), COL11A1(1301), PAX3(5077), INS(3630), DHCR7(1717), GNS(2799), AHI1(54806), FGD1(2245), COL2A1(1280), PEX26(55670), ADAMTSL2(9719), GCK(2645), TRIP11(9321), TP63(8626), TBX1(6899), PORCN(64840), FTO(79068), PEX3(8504), PLOD3(8985), NIPBL(25836), OFD1(8481), ATP6V0A2(23545), GBA(2629), CUL7(9820)]
ABNORMALITY OF THE NASAL BRIDGE(HP:0000422)	[MYCN(4613), FBN1(2200), FKRP(79147), ATRX(546), TGIF1(7050), CCBE1(147372), MYH3(4621), NSD1(64324), HSD17B4(3295), DPM1(8813), EDARADD(128178), GLI3(2737), EDA(1896), ESCO2(157570), ALX3(257), HRAS(3265), ADAMTS10(81794), CRLF1(9244), GNE(10020), GNPTAB(79158), SC5DL(6309), GPC3(2719), TMEM216(51259), PEX10(5192), DYNC2H1(79659), LRP2(4036), PEX13(5194), SEC23A(10484), PEX1(5189), PEX7(5191), ROR2(4920), DDR2(4921), ACOX1(51), RAB3GAP2(25782), GJA1(2697), POU1F1(5449), CREBBP(1387), POR(5447), RAI1(10743), NAGA(4668), RAB23(51715), UPF3B(65109), PDHA1(5160), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), MECP2(4204), FGFR2(2263), COL11A2(1302), COL11A1(1301), SLC26A2(1836), SOS1(6654), GNS(2799), GPC6(10082), FGD1(2245), COL2A1(1280), IGF1R(3480), EDAR(10913), RELN(5649), PQBP1(10084), PEX26(55670), GNAS(2778), TBCE(6905), POMGNT1(55624), VPS13B(157680), TRIP11(9321), SMCR(6600), TNNI2(7136), ICK(22858), PORCN(64840), TNNT3(7140), NIPBL(25836), RUNX2(860), OFD1(8481), TMEM70(54968), FAM123B(139285), CUL7(9820), ATPAF2(91647), ARSB(411), PLOD1(5351), EP300(2033), ARSE(415), PEX5(5830), TCF4(6925), MGP(4256), STRA6(64220), BRAF(673), FLNA(2316), B4GALT7(11285), FLNB(2317), MAP2K1(5604), MAP2K2(5605), MID1(4281), SOX9(6662), BUB1B(701), MITF(4286), MAPK10(5602), PMM2(5373), DNMT3B(1789), AGA(175), BCOR(54880), TSHB(7252), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), CTSD(1509), LBR(3930), ARX(170302), GNPAT(8443), AGL(178), RECQL4(9401), KIAA1279(26128), HSPG2(3339), NHS(4810), WHCR(7467), CD96(10225), SEPT9(10801), WHSC1(7468), ATIC(471), PAX3(5077), MED12(9968), PTPN11(5781), DHCR24(1718), TRIM37(4591), DHCR7(1717), AHI1(54806), FREM2(341640), PITX2(5308), SMARCAL1(50485), FRAS1(80144), ALG3(10195), HYAL1(3373), TP63(8626), KRAS(3845), TFAP2A(7020), EIF2AK3(9451), MMP2(4313), GBA(2629), TPM2(7169)]
ABNORMALITY OF THE NASAL CAVITY(HP:0010640)	[SHH(6469)]
ABNORMALITY OF THE NASAL MUCOSA(HP:0000433)	[ENG(2022), ACVRL1(94)]
ABNORMALITY OF THE NASAL ROOT(HP:0000423)	[PCNT(5116), SOST(50964), MYH3(4621), TNNI2(7136), ERCC6(2074), TNNT3(7140), EFNB1(1947), PAX3(5077), FLNA(2316), FLNB(2317), GLI3(2737), ALX3(257), SNAP29(9342), ARX(170302), AP3B1(8546), TPM2(7169), SLC12A6(9990), ACY1(95)]
ABNORMALITY OF THE NASAL SEPTUM(HP:0000419)	[EP300(2033), NOG(9241), ALX3(257), TGIF1(7050), ARSE(415), SIX3(6496), CREBBP(1387), ZEB2(9839), RPS6KA3(6197), TFAP2A(7020), FLNB(2317)]
ABNORMALITY OF THE NASAL TIP(HP:0000436)	[MYCN(4613), FRAS1(80144), ATRX(546), TGIF1(7050), RAPSN(5913), BCOR(54880), ZEB2(9839), TP63(8626), ICK(22858), PORCN(64840), HYLS1(219844), TFAP2B(7021), EFNB1(1947), TFAP2A(7020), FLNB(2317), RAB3GAP2(25782), ALX3(257), DOK7(285489), AGL(178), FREM2(341640)]
ABNORMALITY OF THE NASOLABIAL REGION(HP:0005289)	[NF1(4763), TNNI2(7136), MYH3(4621), TPM2(7169), TNNT3(7140)]
ABNORMALITY OF THE NASOPHARYNX(HP:0001739)	[ARSB(411), SH2D1A(4068), FGFR1(2260), SALL4(57167), MGP(4256), NBN(4683), FGFR2(2263), EDA(1896), SGSH(6448), MED12(9968), MID1(4281), GNS(2799), WNT3(7473), BTK(695), MATR3(9782), GLB1(2720), ANKH(56172), SHH(6469), HGSNAT(138050), DCLRE1C(64421), TP63(8626), GALNS(2588), SERPING1(710), HOXD13(3239), GJA1(2697), PNP(4860), PLG(5340), CASP8(841), NAGLU(4669)]
ABNORMALITY OF THE NECK(HP:0000464)	[RET(5979), FBN2(2201), GUSB(2990), ATRX(546), MYH3(4621), MAPT(4137), DCR(1637), ESCO2(157570), CP(1356), NOG(9241), THRB(7068), HRAS(3265), CRLF1(9244), GNE(10020), GLB1(2720), CHRNA1(1134), PPARG(5468), SEPN1(57190), NKX2-1(7080), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PRKRA(8575), SLC5A5(6528), PTEN(5728), B3GALTL(145173), ROR2(4920), IL2RG(3561), DDR2(4921), SYNE1(23345), CHRNG(1146), CREBBP(1387), CHRND(1144), ACTA1(58), RAB23(51715), TOR1A(1861), ATP7A(538), TRAPPC2(6399), LMNA(4000), RAPSN(5913), FGFR1(2260), MECP2(4204), SLC26A2(1836), COL6A1(1291), SOS1(6654), GNS(2799), COL6A2(1292), IGBP1(3476), COL6A3(1293), FGD1(2245), GPC6(10082), COL2A1(1280), SLC26A4(5172), PEX26(55670), GDF6(392255), NEB(4703), FOXC2(2303), CNBP(7555), GNAS(2778), TRIP11(9321), TNNI2(7136), DRD2(1813), PEX3(8504), TNNT3(7140), NIPBL(25836), PABPN1(8106), LIFR(3977), EBP(10682), TRPV4(59341), DLL3(10683), OFD1(8481), FAM123B(139285), DOK7(285489), ALMS1(7840), CUL7(9820), GNPTG(84572), SMS(6611), CHD7(55636), FHL1(2273), PAX8(7849), PEX19(5824), EP300(2033), TRIM32(22954), PEX5(5830), GATA1(2623), FLNA(2316), MTM1(4534), FLNB(2317), IDS(3423), IYD(389434), BUB1B(701), NF1(4763), SLC35D1(23169), LHX3(8022), DIO1(1733), SGCE(8910), EMD(2010), TSHR(7253), LBR(3930), MKS1(54903), C20orf54(113278), MRPS16(51021), KIAA1279(26128), THAP1(55145), MGAT2(4247), ATP1A3(478), HSPG2(3339), WHCR(7467), WHSC1(7468), ZMPSTE24(10269), EYA1(2138), MED12(9968), PTPN11(5781), CRYAB(1410), RMRP(6023), DYM(54808), WNT7A(7476), KRT85(3891), SMARCAL1(50485), FTO(79068), HYLS1(219844), TFAP2A(7020), EFNB1(1947), ALDOA(226), SEMA3E(9723), DES(1674), PPP1R3A(5506), DUOXA2(405753), TPM2(7169), CHST3(9469), RPS19(6223), TPM3(7170), PNKD(25953), TPO(7173), TG(7038)]
ABNORMALITY OF THE NEUROMUSCULAR JUNCTION(HP:0003398)	[COLQ(8292), CHRNA1(1134), CHAT(1103), DOK7(285489), CHRNE(1145), CHRND(1144), RAPSN(5913), AGRN(375790), CHRNB1(1140), MUSK(4593)]
ABNORMALITY OF THE NIPPLES(HP:0004404)	[CD96(10225), INSR(3643), ZEB2(9839), NSD1(64324), TBX3(6926), ERCC6(2074), EDA(1896), PTPN11(5781), IKBKG(8517), SOS1(6654), GNE(10020), PMM2(5373), FREM2(341640), UBR1(197131), GNPTAB(79158), FRAS1(80144), GPC3(2719), TP63(8626), ICK(22858), PORCN(64840), PTEN(5728), B3GALTL(145173), TFAP2A(7020), NIPBL(25836), SEMA3E(9723), ACOX1(51), RAB3GAP2(25782), OFD1(8481), FAM123B(139285), CHRNG(1146), CHST3(9469), KIAA1279(26128), SMS(6611), CPT2(1376), CHD7(55636)]
ABNORMALITY OF THE NOSE(HP:0000366)	[FBN1(2200), FKRP(79147), AVP(551), ATRX(546), TGIF1(7050), NPR2(4882), ATR(545), CCBE1(147372), HSD17B4(3295), FERMT3(83706), DPM1(8813), EDARADD(128178), GLI3(2737), NOG(9241), LRRK2(120892), HRAS(3265), ADAMTS10(81794), CRLF1(9244), EMG1(10436), UBR1(197131), GNPTAB(79158), GLB1(2720), CHRNA1(1134), GPC3(2719), DYNC2H1(79659), SEC23A(10484), ROR2(4920), DDR2(4921), ACOX1(51), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), CHRNG(1146), POU1F1(5449), CHRND(1144), POR(5447), PROKR2(128674), DBH(1621), KCNJ11(3767), GP1BA(2811), FH(2271), UPF3B(65109), GP9(2815), GP1BB(2812), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), SOS1(6654), GNS(2799), FGD1(2245), KCNJ2(3759), ACY1(95), ACVRL1(94), EDAR(10913), DTNBP1(84062), GNAS(2778), TRIP11(9321), KAL1(3730), SMCR(6600), OPHN1(4983), TNNI2(7136), ICK(22858), HPS1(3257), TNNT3(7140), NIPBL(25836), TMEM70(54968), SNAP29(9342), HOXD13(3239), FAM123B(139285), DOK7(285489), CUL7(9820), PLA2G6(8398), TBXAS1(6916), TBX21(30009), GATA1(2623), PRPS1(5631), TCF4(6925), STRA6(64220), ERCC6(2074), BRAF(673), B4GALT7(11285), MAP2K1(5604), ITGB3(3690), MAP2K2(5605), BUB1B(701), BLOC1S3(388552), ADSL(158), MAPK10(5602), DNMT3B(1789), TCOF1(6949), ITGA2B(3674), AGA(175), BCOR(54880), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), GNPAT(8443), AGL(178), RECQL4(9401), COL1A1(1277), KIAA1279(26128), JAG1(182), HPS6(79803), WHCR(7467), SEPT9(10801), EHMT1(79813), WHSC1(7468), SIX3(6496), GGCX(2677), ERCC8(1161), PAX3(5077), ZMPSTE24(10269), EYA1(2138), INS(3630), MED12(9968), DHCR24(1718), TRIM37(4591), DHCR7(1717), WRN(7486), AHI1(54806), FAM20C(56975), WNT3(7473), PAK3(5063), SMARCAL1(50485), FRAS1(80144), SHH(6469), GCK(2645), MFN2(9927), F13A1(2162), PCNT(5116), F11(2160), SOST(50964), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), COX4I2(84701), VWF(7450), ATP6V0A2(23545), WAS(7454), GBA(2629), F10(2159), F5(2153), MYCN(4613), P2RY12(64805), SCN9A(6335), SALL4(57167), MYH3(4621), NSD1(64324), HPS5(11234), MAPT(4137), EDA(1896), ESCO2(157570), ALX3(257), STK11(6794), USH1G(124590), MYH9(4627), GNE(10020), SC5DL(6309), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), ABCC8(6833), AP3B1(8546), SLC17A5(26503), CREBBP(1387), RAI1(10743), SLC12A6(9990), NAGA(4668), RAB23(51715), PTH1R(5745), CPT2(1376), MAN2B1(4125), UCHL1(7345), PDHA1(5160), LMNA(4000), NBN(4683), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), PRPS2(5634), SLC26A2(1836), SPINT2(10653), GPC6(10082), COL2A1(1280), IGF1R(3480), FUCA1(2517), RELN(5649), PQBP1(10084), PEX26(55670), ANKH(56172), TBCE(6905), POMGNT1(55624), VPS13B(157680), TBP(6908), HPS3(84343), TBX1(6899), IL1RAPL1(11141), PORCN(64840), PEX3(8504), PLOD3(8985), RUNX1(861), LIFR(3977), RUNX2(860), TAP1(6890), TAP2(6891), OFD1(8481), TAPBP(6892), MOGS(7841), ATPAF2(91647), CHD7(55636), PEX19(5824), ARSB(411), PLOD1(5351), EP300(2033), FOXE1(2304), PEX2(5828), ARSE(415), TWIST1(7291), PEX5(5830), PYCR1(5831), RPS6KA3(6197), MGP(4256), FLNA(2316), FLNB(2317), MID1(4281), SOX9(6662), MITF(4286), NF1(4763), ENG(2022), PMM2(5373), LRPPRC(10128), TSHB(7252), CTSD(1509), LBR(3930), ARX(170302), CTSK(1513), PLEC(5339), TNFSF11(8600), HSPG2(3339), TRPS1(7227), NHS(4810), CD96(10225), DNAI1(27019), ATIC(471), PTPN11(5781), FREM2(341640), PITX2(5308), ADAMTSL2(9719), ALG3(10195), STAT3(6774), HYAL1(3373), TP63(8626), FTO(79068), KRAS(3845), HYLS1(219844), EFNB1(1947), SEMA3E(9723), PHYH(5264), MMP2(4313), HPS4(89781), TPM2(7169), RPS19(6223)]
ABNORMALITY OF THE OCULAR REGION(HP:0000284)	[FBN1(2200), AVP(551), RET(5979), FKRP(79147), DDB2(1643), ATRX(546), TGIF1(7050), SPINK5(11005), TGFBR2(7048), ATR(545), CCBE1(147372), TGFBR1(7046), HSD17B4(3295), DPM1(8813), EDARADD(128178), TGFB1(7040), DCR(1637), GLI3(2737), ABCA1(19), ABAT(18), THRB(7068), HRAS(3265), SNAI2(6591), ADAMTS10(81794), RPGRIP1L(23322), FANCD2(2177), DOLK(22845), FANCC(2176), FANCE(2178), GNPTAB(79158), GLB1(2720), CHRNA1(1134), GPC3(2719), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), DDR2(4921), MCPH1(79648), GJB2(2706), SLC29A3(55315), ACOX1(51), FKTN(2218), SLC9A6(10479), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), POU1F1(5449), CHRND(1144), POR(5447), PUS1(80324), WNT10A(80326), PROKR2(128674), SNRPN(6638), FH(2271), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), POLH(5429), BDNF(627), FGF10(2255), SOS1(6654), GNS(2799), CECR(1055), CYP27A1(1593), KCNJ2(3759), FGD1(2245), KCNJ1(3758), ACY1(95), EDAR(10913), ABHD5(51099), FOXC2(2303), FOXE3(2301), FOXC1(2296), OPHN1(4983), TNNI2(7136), TNNT3(7140), NIPBL(25836), SIX6(4990), KDM5C(8242), SNAP29(9342), FAM123B(139285), DOK7(285489), SPRED1(161742), SMS(6611), SMPD1(6609), ABCA12(26154), ERCC2(2068), ERCC3(2071), TBX15(6913), PHOX2B(8929), GATA1(2623), TCF4(6925), PRPS1(5631), STRA6(64220), ERCC6(2074), BRAF(673), MAP2K1(5604), SGSH(6448), MAP2K2(5605), ITGB4(3691), BUB1B(701), SH3BP2(6452), MAPK10(5602), MFRP(83552), DNMT3B(1789), TCOF1(6949), BMP4(652), BCOR(54880), SOX18(54345), DKC1(1736), IRF6(3664), PARK7(11315), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), MKS1(54903), AGL(178), RECQL4(9401), RPE65(6121), PDHX(8050), XPC(7508), ZNF469(84627), COL1A1(1277), KIAA1279(26128), JAG1(182), RAB3GAP1(22930), XPA(7507), CNTN1(1272), ITGA6(3655), POMT2(29954), GJB6(10804), WHCR(7467), SEPT9(10801), INSR(3643), EHMT1(79813), WHSC1(7468), SIX3(6496), MVK(4598), ZMPSTE24(10269), PAX3(5077), PAX2(5076), MED12(9968), DHCR24(1718), RMRP(6023), TRIM37(4591), DHCR7(1717), DGCR(1714), RAX(30062), AHI1(54806), FAM20C(56975), SH3PXD2B(285590), WNT3(7473), EVC(2121), GDNF(2668), NOP10(55505), FRAS1(80144), SHH(6469), HGSNAT(138050), ALG1(56052), BEST1(7439), PCNT(5116), SOST(50964), FANCA(2175), CHST14(113189), TFAP2B(7021), SLC39A13(91252), TFAP2A(7020), ALDOA(226), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), ALPL(249), LEPRE1(64175), MYCN(4613), SCN9A(6335), CLDN1(9076), SALL4(57167), MYH3(4621), NSD1(64324), ANCR(282), MAPT(4137), EDN3(1908), EDNRB(1910), EDA(1896), IKBKG(8517), ESCO2(157570), CP(1356), ALX3(257), CDKL5(6792), GUCY2D(3000), PTCH1(5727), GNE(10020), SC5DL(6309), UPK3A(7380), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), SAT1(6303), LRP2(4036), PEX13(5194), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), PEPD(5184), AP3B1(8546), SLC17A5(26503), CREBBP(1387), SLC12A6(9990), RAB23(51715), NAGLU(4669), PTH1R(5745), MAN2B1(4125), ADAMTS2(9509), TOR1A(1861), HCCS(3052), APOB(338), APOA2(336), NHP2(55651), INPP5E(56623), NBN(4683), MECP2(4204), COL11A2(1302), COL11A1(1301), PRPS2(5634), COL5A2(1290), LPL(4023), COL5A1(1289), NDN(4692), PHF6(84295), DSP(1832), SPINT2(10653), NDP(4693), IGBP1(3476), GPC6(10082), FUCA1(2517), UBE3A(7337), FTL(2512), PQBP1(10084), PEX26(55670), TBCE(6905), VPS13B(157680), IL1RAPL1(11141), TBX1(6899), PORCN(64840), PEX3(8504), PLOD3(8985), LIFR(3977), RUNX2(860), EBP(10682), DPYD(1806), LIPA(3988), OFD1(8481), PANK2(80025), MOGS(7841), CHD7(55636), PEX19(5824), ABCD3(5825), PLOD1(5351), EP300(2033), PEX2(5828), TWIST1(7291), LDLR(3949), LARGE(9215), PEX5(5830), PYCR1(5831), RPS6KA3(6197), FLNA(2316), FLNB(2317), MID1(4281), SOX10(6663), SOX9(6662), SOX2(6657), ATXN3(4287), MITF(4286), TTPA(7274), NF1(4763), POMT1(10585), LBR(3930), ARX(170302), ASCL1(429), PLEC(5339), HSPG2(3339), TRPS1(7227), NHS(4810), CD96(10225), KRT17(3872), LMBRD1(55788), CDH3(1001), PTPN11(5781), FREM2(341640), HR(55806), KRT6B(3854), ADAMTSL2(9719), ST14(6768), ALG3(10195), STAT3(6774), TP63(8626), KRAS(3845), HYLS1(219844), SEMA3E(9723), EFNB1(1947), MMP2(4313), TPM2(7169), RPS19(6223), PVRL1(5818)]
ABNORMALITY OF THE ODONTOID PROCESS(HP:0003310)	[ARSB(411), GUSB(2990), COMP(1311), GALNS(2588), DDR2(4921), EIF2AK3(9451), FLNA(2316), FLNB(2317), TRPV4(59341), DLL3(10683), DYM(54808), FGD1(2245), COL2A1(1280), GNPTAB(79158), GLB1(2720)]
ABNORMALITY OF THE OPTIC NERVE(HP:0000587)	[FKRP(79147), AUH(549), ATRX(546), SALL4(57167), GJC2(57165), DNAJC19(131118), TGFB1(7040), GLI3(2737), ATXN7(6314), IKBKG(8517), HESX1(8820), COX15(1355), ATXN1(6310), GLB1(2720), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), NUP62(23636), MCOLN1(57192), SURF1(6834), C10orf2(56652), ACOX1(51), FKTN(2218), C20orf7(79133), GJA1(2697), CNNM4(26504), NAGA(4668), RAB23(51715), NDUFS7(374291), FH(2271), SDHA(6389), INPP5E(56623), FGFR2(2263), BCS1L(617), AAAS(8086), NDP(4693), NDUFA1(4694), NDUFA2(4695), PEX26(55670), C8orf38(137682), OPA1(4976), TUBA8(51807), POMGNT1(55624), VPS13B(157680), COX6B1(1340), PORCN(64840), NDUFA11(126328), PEX3(8504), NDUFAF4(29078), NDUFS1(4719), NIPBL(25836), DPYD(1806), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), SNAP29(9342), PANK2(80025), TYR(7299), NDUFS6(4726), FASTKD2(22868), NDUFS4(4724), NDUFS8(4728), ARSA(410), PEX19(5824), ABCD3(5825), PLA2G6(8398), BTD(686), PEX2(5828), SLC19A2(10560), LARGE(9215), ERCC3(2071), PEX5(5830), PRPS1(5631), SPG7(6687), ERCC6(2074), PLP1(5354), NDUFAF2(91942), BRAF(673), MAP2K1(5604), IDS(3423), MAP2K2(5605), SOX2(6657), SH3BP2(6452), MITF(4286), POMT1(10585), TCIRG1(10312), GALC(2581), ASPA(443), NDUFAF3(25915), MFSD8(256471), DKC1(1736), DLD(1738), L2HGDH(79944), ARX(170302), AGXT(189), RECQL4(9401), RPIA(22934), PDHX(8050), OPA3(80207), RAB3GAP1(22930), POMT2(29954), TNFSF11(8600), PAX6(5080), WFS1(7466), ERCC8(1161), ST3GAL5(8869), ATIC(471), CYP7B1(9420), PAX2(5076), EIF2B2(8892), EIF2B5(8893), CA2(760), PPT1(5538), EIF2B4(8890), EIF2B3(8891), EIF2B1(1967), FXN(2395), ALG3(10195), MFN2(9927), VCAN(1462), SOST(50964), KRAS(3845), TIMM8A(1678), CLN3(1201), NOTCH3(4854)]
ABNORMALITY OF THE ORAL CAVITY(HP:0000163)	[FBN1(2200), FBN2(2201), FKRP(79147), TINF2(26277), VPS33B(26276), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), EDARADD(128178), SLC35C1(55343), KCNQ1OT1(10984), ABAT(18), HRAS(3265), PPIB(5479), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), LYST(1130), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), FKTN(2218), CHRNG(1146), POU1F1(5449), CHRNE(1145), CHRND(1144), PUS1(80324), ACTA1(58), TNFRSF11A(8792), CHRNB1(1140), WNT10A(80326), ACTB(60), SNRPN(6638), FH(2271), UPF3B(65109), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN1C(1028), FAM83H(286077), FGF10(2255), SOS1(6654), FGF3(2248), CECR(1055), FGD1(2245), ACVRL1(94), EDAR(10913), GDF6(392255), ACVR1(90), SMN1(6606), FOXC2(2303), HPGD(3248), FOXC1(2296), ICK(22858), HPS1(3257), WNK1(65125), HOXD13(3239), CUL7(9820), CTSC(1075), SPRED1(161742), SMS(6611), ERBB3(2065), TRIM32(22954), STRA6(64220), ERCC6(2074), MTM1(4534), MAP2K1(5604), MAP2K2(5605), BLOC1S3(388552), SH3BP2(6452), MAPK10(5602), HOXA2(3199), AGA(175), SOX18(54345), MSX2(4488), AHCY(191), COL1A2(1278), ZNF469(84627), COL1A1(1277), MSX1(4487), CNTN1(1272), GJB6(10804), WHCR(7467), SEPT9(10801), SIX3(6496), WHSC1(7468), ERCC8(1161), CEP290(80184), MUSK(4593), EYA1(2138), MED12(9968), TRIM37(4591), WNT3(7473), HEXB(3074), EVC(2121), SMARCAL1(50485), NOP10(55505), CLCN7(1186), FRAS1(80144), SHH(6469), ALDOB(229), SLC39A13(91252), SHOX(6473), ALDH3A2(224), COX4I2(84701), WAS(7454), GORAB(92344), ALPL(249), F10(2159), LEPRE1(64175), SCN9A(6335), CLDN1(9076), ANCR(282), NSD1(64324), HPS5(11234), VDR(7421), SLC6A19(340024), FERMT1(55612), ESCO2(157570), ALX3(257), AMELY(266), GNE(10020), AMELX(265), SC5DL(6309), TMEM216(51259), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), SLC17A5(26503), CREBBP(1387), CNNM4(26504), SLC12A6(9990), CPT2(1376), MAN2B1(4125), COL17A1(1308), INPP5E(56623), NHP2(55651), MECP2(4204), COL11A2(1302), COL11A1(1301), COL5A2(1290), AIRE(326), COL6A1(1291), APC(324), COL5A1(1289), COL7A1(1294), IGF1(3479), IGBP1(3476), COL6A2(1292), COL6A3(1293), GPC6(10082), COL2A1(1280), FUCA1(2517), UBE3A(7337), COL3A1(1281), TTC8(123016), PEX26(55670), PQBP1(10084), BSCL2(26580), POMGNT1(55624), UBB(7314), VPS13B(157680), UBA1(7317), ABCC6(368), GAA(2548), ATPAF2(91647), CHD7(55636), ARSB(411), PLOD1(5351), FOXE1(2304), LARGE(9215), TWIST1(7291), RPS6KA3(6197), FLNA(2316), FLNB(2317), IDS(3423), MID1(4281), FMR1(2332), AP4M1(9179), TSPYL1(7259), TSHB(7252), TSC1(7248), TSC2(7249), ENAM(10117), ARX(170302), ORAI1(84876), MBTPS2(51360), PLG(5340), CTSK(1513), MGAT2(4247), PLEC(5339), CTDP1(9150), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), LMBRD1(55788), PITX2(5308), ALG3(10195), PHEX(5251), HYAL1(3373), FTO(79068), HYLS1(219844), ANTXR2(118429), MMP2(4313), HPS4(89781), TPM2(7169), RPS19(6223), TPM3(7170), G6PC3(92579), SH3TC2(79628), RET(5979), TGIF1(7050), ATRX(546), TGFBR2(7048), ATR(545), TGFBR1(7046), TGFB1(7040), GLI3(2737), DCR(1637), SATB2(23314), GLE1(2733), CRLF1(9244), ADAMTS10(81794), RPGRIP1L(23322), EMG1(10436), GLB1(2720), GPC3(2719), CRTAP(10491), SEC23A(10484), ROR2(4920), DDR2(4921), GJB2(2706), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), PROKR2(128674), DBH(1621), ATP7A(538), MKKS(8195), GP1BA(2811), RAPSN(5913), OCRL(4952), FGF23(8074), CYP27B1(1594), KCNJ2(3759), DTNBP1(84062), GNAS(2778), BBS1(582), KAL1(3730), TNFRSF11B(4982), BBS2(583), OPHN1(4983), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), BBS10(79738), KDM5C(8242), TMEM70(54968), FAM123B(139285), DOK7(285489), RB1(5925), PLA2G6(8398), TBX15(6913), ARL6(84100), GATA1(2623), TBX3(6926), TCF4(6925), ITK(3702), BRAF(673), B4GALT7(11285), ITGB3(3690), ITGB4(3691), BUB1B(701), ITGB2(3689), ALS2(57679), KL(9365), TCIRG1(10312), DNMT3B(1789), TCOF1(6949), BMP4(652), ITGA2B(3674), BCOR(54880), GALNS(2588), DKC1(1736), IRF6(3664), GALNT3(2591), BLM(641), FOXL2(668), MKS1(54903), DLX3(1747), C20orf54(113278), GNPAT(8443), RECQL4(9401), PDHX(8050), HPS6(79803), POMT2(29954), ITGA6(3655), EHMT1(79813), INSR(3643), PAX3(5077), ZMPSTE24(10269), DHCR24(1718), RMRP(6023), CA2(760), DHCR7(1717), DGCR(1714), FAM20C(56975), DYM(54808), SH3PXD2B(285590), SAMD9(54809), PAK3(5063), ALG1(56052), PCNT(5116), TERC(7012), CLCF1(23529), TERT(7015), SOST(50964), TFAP2A(7020), EIF2AK3(9451), TBX22(50945), ATP6V0A2(23545), GBA(2629), CHST3(9469), MYCN(4613), TBX4(9496), BBS5(129880), MYH3(4621), EDA(1896), IKBKG(8517), IKBKAP(8518), CDKL5(6792), MYH8(4626), PTCH1(5727), SEPN1(57190), LRP5(4041), PTEN(5728), VSX1(30813), LTBP3(4054), AP3B1(8546), NAGA(4668), PTHLH(5744), RAB23(51715), PTH1R(5745), SUOX(6821), ADAMTS2(9509), LMNA(4000), EVC2(132884), NBN(4683), LMX1B(4010), SLC26A2(1836), NDN(4692), DSP(1832), DSPP(1834), CBS(875), NEB(4703), ANKH(56172), TBCE(6905), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), LIFR(3977), RUNX2(860), OFD1(8481), BBS7(55212), ALMS1(7840), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), CD40LG(959), PEX2(5828), KLK4(9622), PEX5(5830), RBM28(55131), SOX9(6662), ENG(2022), NSDHL(50814), SLC35D1(23169), POMT1(10585), LAMB3(3914), LAMC2(3918), D2HGDH(728294), LAMA3(3909), LBR(3930), NFKBIA(4792), TNFSF11(8600), NHS(4810), KRT17(3872), CDH3(1001), PTPN11(5781), FREM2(341640), KRT6B(3854), ST14(6768), KRT6A(3853), STAT3(6774), KRT4(3851), TP63(8626), KRAS(3845), EFNB1(1947), SEMA3E(9723), KRT16(3868), AGPAT2(10555), KRT14(3861), KRT13(3860), PVRL1(5818)]
ABNORMALITY OF THE ORBITAL REGION(HP:0000315)	[FBN1(2200), FKRP(79147), RET(5979), AVP(551), TGIF1(7050), ATRX(546), TGFBR2(7048), ATR(545), TGFBR1(7046), CCBE1(147372), HSD17B4(3295), DPM1(8813), TGFB1(7040), GLI3(2737), THRB(7068), HRAS(3265), ADAMTS10(81794), FANCD2(2177), RPGRIP1L(23322), FANCC(2176), FANCE(2178), GLB1(2720), CHRNA1(1134), GPC3(2719), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), DDR2(4921), SLC29A3(55315), ACOX1(51), FKTN(2218), GJA1(2697), CHRNG(1146), POU1F1(5449), CHRND(1144), POR(5447), PROKR2(128674), FH(2271), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), FGF10(2255), SOS1(6654), CECR(1055), FGD1(2245), KCNJ2(3759), KCNJ1(3758), ACY1(95), FOXC2(2303), FOXE3(2301), FOXC1(2296), OPHN1(4983), NIPBL(25836), SIX6(4990), SNAP29(9342), KDM5C(8242), FAM123B(139285), DOK7(285489), SPRED1(161742), SMS(6611), ABCA12(26154), TBX15(6913), ERCC3(2071), PRPS1(5631), TCF4(6925), ERCC6(2074), STRA6(64220), BRAF(673), MAP2K1(5604), MAP2K2(5605), BUB1B(701), SH3BP2(6452), DNMT3B(1789), MFRP(83552), TCOF1(6949), BMP4(652), BCOR(54880), FOXL2(668), MKS1(54903), AGL(178), RPE65(6121), RECQL4(9401), PDHX(8050), JAG1(182), RAB3GAP1(22930), CNTN1(1272), POMT2(29954), WHCR(7467), EHMT1(79813), INSR(3643), SEPT9(10801), SIX3(6496), WHSC1(7468), ZMPSTE24(10269), PAX3(5077), PAX2(5076), MED12(9968), RMRP(6023), DHCR7(1717), TRIM37(4591), DGCR(1714), RAX(30062), FAM20C(56975), WNT3(7473), SH3PXD2B(285590), EVC(2121), FRAS1(80144), SHH(6469), ALG1(56052), BEST1(7439), SOST(50964), FANCA(2175), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), GBA(2629), ALPL(249), LEPRE1(64175), MYH3(4621), SALL4(57167), ANCR(282), NSD1(64324), EDA(1896), ESCO2(157570), IKBKG(8517), ALX3(257), GUCY2D(3000), CDKL5(6792), PTCH1(5727), GNE(10020), UPK3A(7380), TMEM216(51259), SLC2A10(81031), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), LRP5(4041), PEPD(5184), CREBBP(1387), SLC12A6(9990), PTH1R(5745), HCCS(3052), MECP2(4204), COL11A2(1302), COL11A1(1301), PRPS2(5634), PHF6(84295), NDP(4693), SPINT2(10653), UBE3A(7337), FUCA1(2517), PEX26(55670), PQBP1(10084), TBCE(6905), IL1RAPL1(11141), TBX1(6899), PORCN(64840), PEX3(8504), PLOD3(8985), RUNX2(860), EBP(10682), DPYD(1806), OFD1(8481), CHD7(55636), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), LARGE(9215), TWIST1(7291), PEX5(5830), RPS6KA3(6197), PYCR1(5831), FLNA(2316), FLNB(2317), MID1(4281), SOX9(6662), ATXN3(4287), SOX2(6657), MITF(4286), NF1(4763), POMT1(10585), LBR(3930), ARX(170302), PLEC(5339), NHS(4810), CD96(10225), PTPN11(5781), FREM2(341640), PITX2(5308), STAT3(6774), KRAS(3845), HYLS1(219844), EFNB1(1947), SEMA3E(9723), MMP2(4313), RPS19(6223)]
ABNORMALITY OF THE OUTER EAR(HP:0000356)	[FBN1(2200), FBN2(2201), RET(5979), FKRP(79147), ATRX(546), VPS33B(26276), ATR(545), CCBE1(147372), HSD17B4(3295), DCR(1637), GLI3(2737), SLC16A2(6567), HRAS(3265), CRLF1(9244), CHRNA1(1134), GPC3(2719), SEC23A(10484), B3GALTL(145173), ROR2(4920), SLC6A8(6535), ACOX1(51), FKTN(2218), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), BDNF(627), FGF10(2255), SOS1(6654), GNS(2799), FGF3(2248), CECR(1055), FGD1(2245), KCNJ2(3759), KCNJ1(3758), ABHD5(51099), OPHN1(4983), ICK(22858), NIPBL(25836), ZFPM2(23414), KDM5C(8242), TMEM70(54968), FAM123B(139285), DOK7(285489), SPRED1(161742), SMS(6611), TBX15(6913), PHOX2B(8929), GATA1(2623), TCF4(6925), ERCC6(2074), STRA6(64220), BRAF(673), MAP2K1(5604), MAP2K2(5605), BUB1B(701), ADSL(158), MAPK10(5602), DNMT3B(1789), HOXA2(3199), TCOF1(6949), BMP4(652), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), MKS1(54903), RECQL4(9401), KIAA1279(26128), COL1A1(1277), MRPS16(51021), JAG1(182), RAB3GAP1(22930), POMT2(29954), WHCR(7467), EHMT1(79813), INSR(3643), SEPT9(10801), WHSC1(7468), ERCC8(1161), MVK(4598), ZMPSTE24(10269), EYA1(2138), MED12(9968), DHCR24(1718), DHCR7(1717), GDF1(2657), DGCR(1714), AHI1(54806), FAM20C(56975), WNT3(7473), EVC(2121), GDNF(2668), FRAS1(80144), PCNT(5116), CLCF1(23529), CHST14(113189), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), MYCN(4613), SALL4(57167), NSD1(64324), EDN3(1908), ESCO2(157570), ALX3(257), GNE(10020), UPK3A(7380), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), AP3B1(8546), CREBBP(1387), SLC12A6(9990), RAB23(51715), CPT2(1376), MAN2B1(4125), NBN(4683), INPP5E(56623), MECP2(4204), COL11A1(1301), COL5A2(1290), SLC26A2(1836), COL6A1(1291), COL5A1(1289), PHF6(84295), IGBP1(3476), COL6A2(1292), COL6A3(1293), COL3A1(1281), PEX26(55670), PQBP1(10084), NEB(4703), TBCE(6905), TBX1(6899), PORCN(64840), PEX3(8504), PLOD3(8985), LIFR(3977), EBP(10682), OFD1(8481), ATPAF2(91647), CHD7(55636), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), LARGE(9215), TWIST1(7291), PEX5(5830), RPS6KA3(6197), PYCR1(5831), MGP(4256), BRWD3(254065), FLNA(2316), FLNB(2317), SOX9(6662), NF1(4763), PMM2(5373), POMT1(10585), NKX2-5(1482), FMR1(2332), CTSD(1509), LBR(3930), ASCL1(429), ARX(170302), MGAT2(4247), PLEC(5339), TRPS1(7227), HSPG2(3339), CD96(10225), ATIC(471), LMBRD1(55788), PTPN11(5781), FREM2(341640), ADAMTSL2(9719), ALG3(10195), TP63(8626), HYLS1(219844), KRAS(3845), MMACHC(25974), SEMA3E(9723)]
ABNORMALITY OF THE OVARIES(HP:0000137)	[MKKS(8195), INSR(3643), LMNA(4000), BBS5(129880), TRIM32(22954), ATM(472), ARL6(84100), HNF1A(6927), NBN(4683), CEP290(80184), BBS12(166379), AIRE(326), PTPN11(5781), STK11(6794), PTCH1(5727), PMM2(5373), CYP19A1(1588), BBS9(27241), TTC8(123016), BSCL2(26580), PPARG(5468), BBS1(582), BBS2(583), BBS4(585), PTEN(5728), DCAF17(80067), WT1(7490), PPP1R3A(5506), BBS10(79738), MKS1(54903), BBS7(55212), DHH(50846), POR(5447), AGPAT2(10555), FST(10468)]
ABNORMALITY OF THE PALMAR CREASES(HP:0010490)	[PEX19(5824), ABCD3(5825), EP300(2033), WHCR(7467), PEX2(5828), EHMT1(79813), WHSC1(7468), PEX5(5830), ATR(545), RPS6KA3(6197), GATA1(2623), CCBE1(147372), GDF5(8200), BRAF(673), B4GALT7(11285), DCR(1637), MAP2K1(5604), MED12(9968), MAP2K2(5605), NOG(9241), HRAS(3265), FGD1(2245), UBR1(197131), PEX26(55670), BMP4(652), VPS13B(157680), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), KRAS(3845), PEX3(8504), B3GALTL(145173), TFAP2A(7020), NIPBL(25836), LIFR(3977), OFD1(8481), CREBBP(1387), TPM2(7169), DPAGT1(1798), CHST3(9469)]
ABNORMALITY OF THE PALPEBRAL FISSURES(HP:0008050)	[MYCN(4613), FBN1(2200), RET(5979), ATRX(546), ATR(545), SALL4(57167), MYH3(4621), NSD1(64324), HSD17B4(3295), EDN3(1908), DPM1(8813), GLI3(2737), DCR(1637), ABAT(18), HRAS(3265), SC5DL(6309), GPC3(2719), SLC2A10(81031), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), PEX7(5191), B3GALTL(145173), PTEN(5728), ROR2(4920), MCPH1(79648), RAB3GAP2(25782), GJA1(2697), AP3B1(8546), CHRNG(1146), CREBBP(1387), ADAMTS2(9509), SNRPN(6638), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), NBN(4683), FGFR2(2263), BDNF(627), FGF10(2255), SOS1(6654), NDN(4692), PHF6(84295), CECR(1055), IGBP1(3476), FGD1(2245), GPC6(10082), KCNJ2(3759), PQBP1(10084), PEX26(55670), VPS13B(157680), TBX1(6899), TNNI2(7136), IL1RAPL1(11141), PEX3(8504), TNNT3(7140), LIFR(3977), EBP(10682), OFD1(8481), SNAP29(9342), KDM5C(8242), DOK7(285489), MOGS(7841), SPRED1(161742), CHD7(55636), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), TBX15(6913), PEX5(5830), PYCR1(5831), RPS6KA3(6197), PHOX2B(8929), GATA1(2623), STRA6(64220), ERCC6(2074), BRAF(673), FLNA(2316), MAP2K1(5604), MAP2K2(5605), SOX9(6662), BUB1B(701), MAPK10(5602), TCOF1(6949), BCOR(54880), FOXL2(668), ASCL1(429), RECQL4(9401), KIAA1279(26128), HSPG2(3339), CD96(10225), SEPT9(10801), EHMT1(79813), MVK(4598), PAX3(5077), ZMPSTE24(10269), MED12(9968), PTPN11(5781), DHCR24(1718), DGCR(1714), GDNF(2668), ADAMTSL2(9719), PCNT(5116), TP63(8626), CHST14(113189), KRAS(3845), SLC39A13(91252), TFAP2A(7020), EFNB1(1947), SEMA3E(9723), EIF2AK3(9451), ATP6V0A2(23545), TPM2(7169), RPS19(6223)]
ABNORMALITY OF THE PANCREAS(HP:0001732)	[MYCN(4613), NSD1(64324), H19(283120), SLC16A1(6566), CTNS(1497), MANF(7873), KCNQ1OT1(10984), FAH(2184), SLC7A7(9056), REG1A(5967), HNF1B(6928), STK11(6794), UBR1(197131), GPC3(2719), PKHD1(5314), DLD(1738), ABCC8(6833), LBR(3930), DBT(1629), SPINK1(6690), ATP8B1(5205), RECQL4(9401), PDX1(3651), KCNJ11(3767), PRSS1(5644), CD96(10225), INSR(3643), LMNA(4000), CDC73(79577), CDKN1C(1028), CDKN2A(1029), PAX4(5078), APOC2(344), MUT(4594), INS(3630), LPL(4023), SBDS(51119), SLC17A3(10786), CBS(875), MEN1(4221), NPHP3(27031), BSCL2(26580), SLC37A4(2542), GCK(2645), G6PC(2538), EIF2AK3(9451), VHL(7428), PCCB(5096), BCKDHA(593), CCND1(595), CFTR(1080), BCKDHB(594), AGPAT2(10555), CASR(846), TP53(7157), PCCA(5095)]
ABNORMALITY OF THE PANCREATIC ISLET CELLS(HP:0006476)	[INS(3630), LBR(3930), FAH(2184), KCNJ11(3767), GPC3(2719), GCK(2645), INSR(3643), MEN1(4221), PAX4(5078), ABCC8(6833), SLC16A1(6566), EIF2AK3(9451)]
ABNORMALITY OF THE PARATHYROID GLANDS(HP:0000828)	[RET(5979), GNAS(2778), TBCE(6905), PTH(5741), TBX1(6899), VDR(7421), CDC73(79577), GNASAS(149775), SEMA3E(9723), AIRE(326), GATA3(2625), GCM2(9247), DGCR(1714), CYP27B1(1594), ATP7B(540), PTH1R(5745), MEN1(4221), CASR(846), STX16(8675), COL4A5(1287), CHD7(55636)]
ABNORMALITY OF THE PARIETAL BONE(HP:0002696)	[PTPN11(5781), ALX4(60529), EP300(2033), MSX2(4488), GJA1(2697), TWIST1(7291), CREBBP(1387), RPS19(6223), FGFR2(2263), RUNX2(860)]
ABNORMALITY OF THE PATELLA(HP:0003045)	[EBP(10682), EP300(2033), FBN2(2201), TBX4(9496), CHRNG(1146), CREBBP(1387), RECQL4(9401), GDF5(8200), RAB23(51715), WNT7A(7476), LMX1B(4010)]
ABNORMALITY OF THE PELVIS(HP:0002644)	[FBN1(2200), VCP(7415), RET(5979), FBN2(2201), TBX4(9496), MYOT(9499), GUSB(2990), ATRX(546), VPS33B(26276), ATR(545), MYH3(4621), CCBE1(147372), NSD1(64324), GLRB(2743), GLRA1(2741), GLI3(2737), DCR(1637), ESCO2(157570), MATN3(4148), MYH8(4626), IHH(3549), GNPTAB(79158), GLB1(2720), CANT1(124583), GPC3(2719), CRTAP(10491), SEC23A(10484), LRP5(4041), B3GALTL(145173), DDR2(4921), AP3B1(8546), GJA1(2697), CHRNG(1146), CREBBP(1387), SIL1(64374), ACTA1(58), RAB23(51715), PTH1R(5745), TNFRSF11A(8792), ACTB(60), ATP7A(538), TRAPPC2(6399), MKKS(8195), COMP(1311), LMNA(4000), RAPSN(5913), FGFR1(2260), COL9A3(1299), FGFR3(2261), EVC2(132884), OCRL(4952), GDF5(8200), COL9A1(1297), FGFR2(2263), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), COL6A1(1291), HOXA11(3207), COL6A2(1292), SBDS(51119), COL6A3(1293), GPC6(10082), COL2A1(1280), FUCA1(2517), ACVR1(90), ANKH(56172), ADA(100), TRIP11(9321), PORCN(64840), TNNT1(7138), PLOD3(8985), LIFR(3977), RUNX2(860), EBP(10682), TRPV4(59341), OFD1(8481), DOK7(285489), CUL7(9820), GNPTG(84572), ARSB(411), EP300(2033), TWIST1(7291), TRIM32(22954), TBX15(6913), PYCR1(5831), RPS6KA3(6197), GATA1(2623), SGCB(6443), ERCC6(2074), FLNA(2316), B4GALT7(11285), FLNB(2317), SOX9(6662), SLC35D1(23169), NSDHL(50814), ANO5(203859), TCIRG1(10312), LAMB1(3912), GALNS(2588), LBR(3930), GNPAT(8443), COL1A2(1278), SLC6A5(9152), ZNF469(84627), ACAN(176), COL1A1(1277), CTSK(1513), MGAT2(4247), BMPR1B(658), HSPG2(3339), TRPS1(7227), EXT2(2132), WHCR(7467), RYR1(6261), CD96(10225), SQSTM1(8878), WHSC1(7468), EXT1(2131), ERCC8(1161), MMP13(4322), EYA1(2138), GPHN(10243), RMRP(6023), DYM(54808), WNT3(7473), PRG4(10216), FREM2(341640), WNT7A(7476), EVC(2121), SMARCAL1(50485), ADAMTSL2(9719), FRAS1(80144), CLCN7(1186), PHEX(5251), PCNT(5116), SOST(50964), WISP3(8838), SLC39A13(91252), SHOX(6473), EIF2AK3(9451), ATP6V0A2(23545), MMP2(4313), TPM2(7169), CHST3(9469), RPS19(6223)]
ABNORMALITY OF THE PENIS(HP:0000036)	[DCX(1641), ATRX(546), BBS5(129880), ATR(545), H19(283120), DNAJC19(131118), GLI3(2737), FERMT1(55612), ESCO2(157570), UBR1(197131), BBS9(27241), SALL1(6299), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), B3GALTL(145173), PTEN(5728), ROR2(4920), DCAF17(80067), SLC29A3(55315), RAB3GAP2(25782), CHRNG(1146), CREBBP(1387), POR(5447), MKKS(8195), CYP11A1(1583), SNRPN(6638), HCCS(3052), ZEB2(9839), FGFR1(2260), EVC2(132884), FGFR3(2261), INPP5E(56623), HBB(3043), BBS12(166379), FGF10(2255), CUL4B(8450), NDN(4692), DSP(1832), PHF6(84295), POLA1(5422), HOXA13(3209), CYP21A2(1589), TTC8(123016), PEX26(55670), PQBP1(10084), CYP11B1(1584), TBCE(6905), UBA1(7317), BBS1(582), KAL1(3730), BBS2(583), OPHN1(4983), ICK(22858), BBS4(585), PEX3(8504), NIPBL(25836), BBS10(79738), OFD1(8481), KDM5C(8242), TMEM70(54968), BBS7(55212), HOXD13(3239), CUL7(9820), AR(367), ATPAF2(91647), CHD7(55636), PEX19(5824), EP300(2033), TRIM32(22954), PEX5(5830), ARL6(84100), TBX3(6926), ERCC6(2074), FLNA(2316), MID1(4281), BUB1B(701), SOX2(6657), HNF1B(6928), BMP4(652), TSPYL1(7259), DKC1(1736), SRD5A2(6716), MKS1(54903), ARX(170302), WHCR(7467), ZBTB16(7704), INSR(3643), WHSC1(7468), ERCC8(1161), CEP290(80184), ZMPSTE24(10269), MED12(9968), PTPN11(5781), DHCR7(1717), FREM2(341640), EVC(2121), PITX2(5308), STAR(6770), FRAS1(80144), PCNT(5116), TP63(8626), HYLS1(219844), TFAP2A(7020), EFNB1(1947), SEMA3E(9723)]
ABNORMALITY OF THE PERICARDIUM(HP:0001697)	[MYBPC3(4607), TRIM37(4591), MEFV(4210), LMNA(4000), CCBE1(147372), PMM2(5373), PRG4(10216)]
ABNORMALITY OF THE PERIORBITAL REGION(HP:0000606)	[FBN1(2200), RET(5979), DDB2(1643), ATRX(546), SPINK5(11005), ATR(545), CCBE1(147372), HSD17B4(3295), DPM1(8813), EDARADD(128178), GLI3(2737), DCR(1637), ABCA1(19), ABAT(18), HRAS(3265), SNAI2(6591), DOLK(22845), GNPTAB(79158), CHRNA1(1134), GPC3(2719), B3GALTL(145173), ROR2(4920), GJB2(2706), MCPH1(79648), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), CHRNG(1146), CHRND(1144), PUS1(80324), WNT10A(80326), SNRPN(6638), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), POLH(5429), BDNF(627), FGF10(2255), SOS1(6654), GNS(2799), CECR(1055), CYP27A1(1593), FGD1(2245), KCNJ2(3759), EDAR(10913), ABHD5(51099), FOXC2(2303), TNNI2(7136), TNNT3(7140), NIPBL(25836), SNAP29(9342), KDM5C(8242), FAM123B(139285), DOK7(285489), SPRED1(161742), SMPD1(6609), ABCA12(26154), ERCC2(2068), TBX15(6913), PHOX2B(8929), GATA1(2623), PRPS1(5631), STRA6(64220), ERCC6(2074), BRAF(673), MAP2K1(5604), SGSH(6448), MAP2K2(5605), ITGB4(3691), BUB1B(701), MAPK10(5602), DNMT3B(1789), TCOF1(6949), BCOR(54880), SOX18(54345), DKC1(1736), IRF6(3664), PARK7(11315), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), RECQL4(9401), XPC(7508), PDHX(8050), ZNF469(84627), KIAA1279(26128), COL1A1(1277), XPA(7507), ITGA6(3655), GJB6(10804), WHCR(7467), EHMT1(79813), SEPT9(10801), WHSC1(7468), MVK(4598), PAX3(5077), ZMPSTE24(10269), MED12(9968), DHCR24(1718), RMRP(6023), DHCR7(1717), DGCR(1714), RAX(30062), AHI1(54806), GDNF(2668), NOP10(55505), FRAS1(80144), HGSNAT(138050), PCNT(5116), CHST14(113189), SLC39A13(91252), TFAP2B(7021), TFAP2A(7020), ALDOA(226), EIF2AK3(9451), ATP6V0A2(23545), MYCN(4613), CLDN1(9076), SALL4(57167), MYH3(4621), NSD1(64324), MAPT(4137), EDN3(1908), EDNRB(1910), EDA(1896), ESCO2(157570), CP(1356), ALX3(257), GNE(10020), SC5DL(6309), SLC2A10(81031), PEX10(5192), SAT1(6303), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), PTEN(5728), AP3B1(8546), SLC17A5(26503), CREBBP(1387), RAB23(51715), NAGLU(4669), MAN2B1(4125), TOR1A(1861), ADAMTS2(9509), APOB(338), APOA2(336), NHP2(55651), NBN(4683), INPP5E(56623), COL11A1(1301), PRPS2(5634), COL5A2(1290), COL5A1(1289), LPL(4023), NDN(4692), PHF6(84295), DSP(1832), IGBP1(3476), GPC6(10082), FUCA1(2517), FTL(2512), PEX26(55670), PQBP1(10084), VPS13B(157680), TBX1(6899), IL1RAPL1(11141), PEX3(8504), LIFR(3977), EBP(10682), LIPA(3988), PANK2(80025), OFD1(8481), MOGS(7841), CHD7(55636), PEX19(5824), EP300(2033), PLOD1(5351), ABCD3(5825), PEX2(5828), LDLR(3949), PEX5(5830), PYCR1(5831), RPS6KA3(6197), FLNA(2316), SOX10(6663), MID1(4281), SOX9(6662), MITF(4286), TTPA(7274), ASCL1(429), ARX(170302), HSPG2(3339), TRPS1(7227), CD96(10225), KRT17(3872), LMBRD1(55788), CDH3(1001), PTPN11(5781), FREM2(341640), HR(55806), KRT6B(3854), ADAMTSL2(9719), ST14(6768), ALG3(10195), TP63(8626), KRAS(3845), EFNB1(1947), SEMA3E(9723), TPM2(7169), RPS19(6223), PVRL1(5818)]
ABNORMALITY OF THE PERIPHERAL NERVOUS SYSTEM(HP:0000759)	[FBN1(2200), SH3TC2(79628), PGK1(5230), FKRP(79147), MYOT(9499), CHAT(1103), SUCLA2(8803), SCN9A(6335), CPOX(1371), PPOX(5498), ATXN8(724066), PGAM2(5224), SACS(26278), SETX(23064), GAN(8139), GJC2(57165), HSD17B4(3295), REEP1(65055), DCTN1(1639), SLC16A1(6566), EDNRB(1910), FAH(2184), ATXN8OS(6315), ABCA1(19), HRAS(3265), GCLC(2729), RAB7A(7879), PGM1(5236), TYMP(1890), MATR3(9782), ATXN2(6311), BAG3(9531), SBF2(81846), COLQ(8292), CHRNA1(1134), GLA(2717), NIPA1(123606), YARS(8565), LYST(1130), KIF1B(23095), HSPB1(3315), KIF5A(3798), PEX1(5189), PEX7(5191), GJB1(2705), ABCC8(6833), C10orf2(56652), PFKM(5213), CACNA1A(773), MPZ(4359), SLC12A3(6559), MPV17(4358), CHRNE(1145), LITAF(9516), SLC12A1(6557), CHRND(1144), ACTA1(58), ATP7B(540), RAI1(10743), SLC12A6(9990), NAGA(4668), GIF(2694), CHRNB1(1140), CPT2(1376), MANBA(4126), ATP7A(538), KCNJ10(3766), SAR1B(51128), KCNJ11(3767), LMNA(4000), RAPSN(5913), NDRG1(10397), POLG(5428), PRPS2(5634), FGF14(2259), PRICKLE1(144165), FAM134B(54463), MED25(81857), PSAP(5660), AAAS(8086), ATXN10(25814), HSPB8(26353), CYP27A1(1593), TUBB3(10381), TREM2(54209), APOA1(335), KCNJ1(3758), SOD1(6647), FUCA1(2517), PEX26(55670), NEB(4703), OPA1(4976), SMN1(6606), BSCL2(26580), GNAS(2778), SMCR(6600), CAV3(859), HSPB3(8988), PLOD3(8985), PABPN1(8106), TRPV4(59341), WNK1(65125), HADHB(3032), SNAP29(9342), PANK2(80025), IGHMBP2(3508), DOK7(285489), AGRN(375790), TYROBP(7305), AR(367), PMP22(5376), HADHA(3030), LDB3(11155), SLC25A15(10166), AMN(81693), ARSA(410), PLA2G6(8398), ATL1(51062), PEX2(5828), LARGE(9215), ERCC3(2071), NEFL(4747), CCT5(22948), PRPS1(5631), LDHA(3939), SPG7(6687), ERCC6(2074), KIAA0196(9897), FLNC(2318), PYGM(5837), GARS(2617), SPAST(6683), SOX10(6663), TTR(7276), ATXN3(4287), MTHFR(4524), HMBS(3145), FAM126A(84668), ALS2(57679), CUBN(8029), SLC46A1(113235), PMM2(5373), DNM2(1785), GALC(2581), PLEKHG5(57449), OSMR(9180), VPS13A(23230), SPG11(80208), MTMR2(8898), FGD4(121512), NF2(4771), SPTBN2(6712), PRX(57716), ARHGEF10(9639), C20orf54(113278), AGXT(189), PRKCG(5582), RPIA(22934), LAMP2(3920), CTDP1(9150), ZFYVE26(23503), EXT2(2132), SEPT9(10801), EXT1(2131), ERCC8(1161), HSPD1(3329), NGF(4803), CYP7B1(9420), MUSK(4593), INS(3630), EGR2(1959), DGUOK(1716), GSN(2934), GDAP1(54332), ABCD1(215), FXN(2395), ALAD(210), PPP2R2B(5521), GCK(2645), MFN2(9927), CLCF1(23529), PHKA1(5255), SLC39A13(91252), SERPING1(710), PHYH(5264), APTX(54840), ATP2A1(487), SERPINI1(5274), SPTLC1(10558), NOTCH3(4854)]
ABNORMALITY OF THE PERITONEUM(HP:0002585)	[MEFV(4210)]
ABNORMALITY OF THE PHALANGES OF THE 2ND FINGER(HP:0009541)	[MYCN(4613), GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE PHALANGES OF THE 3RD FINGER(HP:0009316)	[GDF5(8200)]
ABNORMALITY OF THE PHALANGES OF THE 5TH FINGER(HP:0004213)	[MYCN(4613), HOXD13(3239), GJA1(2697), GATA1(2623), CHST3(9469), GDF5(8200), TFAP2B(7021), ROR2(4920), H19(283120), PQBP1(10084), BMPR1B(658), DCR(1637)]
ABNORMALITY OF THE PHALANGES OF THE HALLUX(HP:0010057)	[TWIST1(7291), LMBR1(64327), FGFR2(2263), IHH(3549), HYLS1(219844), CANT1(124583), GLI3(2737)]
ABNORMALITY OF THE PHALANGES OF THE HAND(HP:0005918)	[FBN1(2200), MYCN(4613), FBN2(2201), NPR2(4882), BBS5(129880), TGFBR2(7048), ATR(545), MYH3(4621), SALL4(57167), CCBE1(147372), TGFBR1(7046), NSD1(64324), LMBR1(64327), H19(283120), DCR(1637), GLI3(2737), NOG(9241), ALX3(257), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), IFT80(57560), IHH(3549), FANCE(2178), GNPTAB(79158), BBS9(27241), SC5DL(6309), CANT1(124583), SALL1(6299), NOD2(64127), GPC3(2719), TMEM216(51259), UROS(7390), ROR2(4920), DDR2(4921), SLC29A3(55315), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CREBBP(1387), POR(5447), RAB23(51715), ADAMTS2(9509), MKKS(8195), COMP(1311), LMNA(4000), RAPSN(5913), COL17A1(1308), FGFR1(2260), EVC2(132884), FGFR3(2261), OCRL(4952), INPP5E(56623), GDF5(8200), FGFR2(2263), BBS12(166379), COL11A2(1302), COL11A1(1301), FAM134B(54463), SLC26A2(1836), FGF10(2255), PHF6(84295), DSP(1832), TUBB3(10381), KCNJ2(3759), HOXA13(3209), COL2A1(1280), COL3A1(1281), PQBP1(10084), TTC8(123016), ACVR1(90), GNAS(2778), HPGD(3248), TBX5(6910), BBS1(582), BBS2(583), TNNI2(7136), BBS4(585), PORCN(64840), TNNT3(7140), LIFR(3977), RUNX2(860), WNK1(65125), DPYS(1807), BBS10(79738), OFD1(8481), KDM5C(8242), IGHMBP2(3508), FAM123B(139285), HOXD13(3239), BBS7(55212), DOK7(285489), CTSC(1075), CHD7(55636), ABCD3(5825), EP300(2033), PEX2(5828), ARSE(415), TWIST1(7291), LARGE(9215), TBX15(6913), TRIM32(22954), RPS6KA3(6197), GATA1(2623), ARL6(84100), TBX3(6926), MGP(4256), ERCC6(2074), FLNA(2316), FLNB(2317), ITGB4(3691), SOX9(6662), LAMB3(3914), BMP4(652), LAMC2(3918), BLM(641), LAMA3(3909), LBR(3930), MKS1(54903), MIPOL1(145282), JAG1(182), CTSK(1513), CNTN1(1272), BMPR1B(658), HSPG2(3339), TRPS1(7227), NHS(4810), WFS1(7466), CD96(10225), GGCX(2677), ERCC8(1161), CEP290(80184), ZMPSTE24(10269), PAX3(5077), CDH3(1001), MED12(9968), RMRP(6023), DHCR7(1717), L1CAM(3897), DYM(54808), FREM2(341640), WNT7A(7476), EVC(2121), ADAMTSL2(9719), FRAS1(80144), PCNT(5116), TP63(8626), FANCA(2175), WISP3(8838), HYLS1(219844), TFAP2B(7021), SLC39A13(91252), SEMA3E(9723), TFAP2A(7020), EIF2AK3(9451), MMP2(4313), TPM2(7169), CHST3(9469), RPS19(6223)]
ABNORMALITY OF THE PHALANGES OF THE THUMB(HP:0009602)	[EP300(2033), FGFR1(2260), SALL4(57167), NSD1(64324), FGFR3(2261), LMBR1(64327), GDF5(8200), FGFR2(2263), FLNA(2316), GLI3(2737), FLNB(2317), SLC26A2(1836), MED12(9968), NOG(9241), FGF10(2255), HOXA13(3209), FANCD2(2177), FANCC(2176), COL2A1(1280), IHH(3549), FANCE(2178), ACVR1(90), CANT1(124583), SALL1(6299), GPC3(2719), PCNT(5116), TBX5(6910), FANCA(2175), ROR2(4920), HOXD13(3239), CREBBP(1387), RPS19(6223)]
ABNORMALITY OF THE PHALANGES OF THE TOES(HP:0010161)	[NOG(9241), TWIST1(7291), GDF5(8200), LMBR1(64327), FGFR2(2263), IHH(3549), HYLS1(219844), WNT7A(7476), BMPR1B(658), CANT1(124583), GLI3(2737)]
ABNORMALITY OF THE PHARYNX(HP:0000600)	[ARSB(411), SH2D1A(4068), FGFR1(2260), SALL4(57167), MGP(4256), NBN(4683), FGFR2(2263), EDA(1896), SGSH(6448), MED12(9968), MID1(4281), GNS(2799), WNT3(7473), BTK(695), MATR3(9782), GLB1(2720), TCOF1(6949), ANKH(56172), SHH(6469), HGSNAT(138050), DCLRE1C(64421), TP63(8626), GALNS(2588), SERPING1(710), HOXD13(3239), GJA1(2697), PNP(4860), PLG(5340), CASP8(841), NAGLU(4669)]
ABNORMALITY OF THE PHILTRUM(HP:0000288)	[AVP(551), CCBE1(147372), MYH3(4621), NSD1(64324), MGP(4256), HSD17B4(3295), ERCC6(2074), BRAF(673), FLNA(2316), GLI3(2737), MAP2K1(5604), MAP2K2(5605), NOG(9241), MID1(4281), BUB1B(701), ADSL(158), MYH8(4626), CRLF1(9244), GNE(10020), GNPTAB(79158), SC5DL(6309), SLC2A10(81031), BCOR(54880), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), ABCC8(6833), RAB3GAP2(25782), AP3B1(8546), ARX(170302), CHRNG(1146), KIAA1279(26128), ATP7A(538), KCNJ11(3767), TRPS1(7227), WHCR(7467), PDHA1(5160), WHSC1(7468), RAPSN(5913), FGFR1(2260), FGFR2(2263), COL11A1(1301), PAX3(5077), INS(3630), MED12(9968), DHCR7(1717), DGCR(1714), GPC6(10082), FGD1(2245), IGF1R(3480), PQBP1(10084), PITX2(5308), ADAMTSL2(9719), TBCE(6905), VPS13B(157680), GCK(2645), OPHN1(4983), TNNI2(7136), TBX1(6899), KRAS(3845), PLOD3(8985), TFAP2B(7021), TNNT3(7140), NIPBL(25836), MMACHC(25974), OFD1(8481), KDM5C(8242), ATP6V0A2(23545), DOK7(285489), CUL7(9820), TPM2(7169), SMS(6611), PVRL1(5818)]
ABNORMALITY OF THE PITUITARY GLAND(HP:0000838)	[BMP4(652), SHH(6469), GNAS(2778), INSR(3643), SIX3(6496), LHX4(89884), AIP(9049), CDKN1B(1027), GLI3(2737), PROP1(5626), SSTR5(6755), PRKAR1A(5573), HESX1(8820), GNRH1(2796), SOX3(6658), MEN1(4221), LHX3(8022), GH1(2688)]
ABNORMALITY OF THE PLEURA(HP:0002103)	[LBR(3930), PRSS1(5644), MEFV(4210), SPINK1(6690), CCBE1(147372), HFE(3077)]
ABNORMALITY OF THE PONS(HP:0007361)	[VRK1(7443)]
ABNORMALITY OF THE POSTERIOR CRANIAL FOSSA(HP:0000932)	[ABAT(18), BUB1B(701), ZIC1(7545), ZIC4(84107), FGFR2(2263), FLNA(2316)]
ABNORMALITY OF THE POSTERIOR SEGMENT OF THE EYE(HP:0004329)	[FBN1(2200), LRAT(9227), RET(5979), FKRP(79147), EFEMP1(2202), MERTK(10461), AUH(549), ATRX(546), TINF2(26277), SACS(26278), CLN6(54982), HSD17B4(3295), TGFB1(7040), DNAJC19(131118), GLI3(2737), HSD11B2(3291), PRPH2(5961), NPHP1(4867), HESX1(8820), COQ2(27235), CDH23(64072), CTSA(5476), ABCA4(24), RDH5(5959), SPATA7(55812), BBS9(27241), GNPTAB(79158), GLB1(2720), OPN1LW(5956), RHO(6010), LYST(1130), TIMP3(7078), B3GALTL(145173), CHML(1122), CHM(1121), ACOX1(51), FKTN(2218), C20orf7(79133), GJA1(2697), NDUFS7(374291), NPHP4(261734), OPN1SW(611), MKKS(8195), FH(2271), CYP4V2(285440), FGFR2(2263), BCS1L(617), BBS12(166379), FGF23(8074), COL18A1(80781), AAAS(8086), GPR143(4935), CECR(1055), GPR98(84059), OAT(4942), DTNBP1(84062), C8orf38(137682), OPA1(4976), RBP4(5950), TNFRSF11B(4982), BBS1(582), BBS2(583), BBS4(585), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), NIPBL(25836), BBS10(79738), CCND1(595), SNAP29(9342), FASTKD2(22868), RB1(5925), SMPD1(6609), CRB1(23418), ERBB3(2065), BTD(686), PLA2G6(8398), RPGR(6103), RP2(6102), ERCC3(2071), TRIM32(22954), RP1(6101), RP9(6100), ARL6(84100), PRPS1(5631), ERCC6(2074), SEMA4A(64218), PROC(5624), BRAF(673), MAP2K1(5604), MAP2K2(5605), SH3BP2(6452), BLOC1S3(388552), TREX1(11277), KL(9365), TCIRG1(10312), GALC(2581), PRPF31(26121), MFSD8(256471), SPG11(80208), BCOR(54880), DKC1(1736), GALNT3(2591), DLD(1738), CNGB1(1258), MKS1(54903), AGXT(189), RECQL4(9401), RPE65(6121), RPIA(22934), PDHX(8050), OPA3(80207), ETHE1(23474), JAG1(182), RAB3GAP1(22930), HPS6(79803), POMT2(29954), ZFYVE26(23503), WFS1(7466), PAX6(5080), ERCC8(1161), ST3GAL5(8869), FZD4(8322), CEP290(80184), CYP7B1(9420), PAX3(5077), PAX2(5076), EIF2B2(8892), MED12(9968), CA4(762), EIF2B5(8893), PPT1(5538), CA2(760), TRIM37(4591), EIF2B4(8890), WRN(7486), AHI1(54806), EIF2B3(8891), RLBP1(6017), HEXA(3073), TEAD1(7003), HEXB(3074), PCDH15(65217), COQ9(57017), HGSNAT(138050), IMPDH1(3614), BEST1(7439), MFN2(9927), PROM1(8842), TERC(7012), TERT(7015), SOST(50964), CLCNKB(1188), TIMM8A(1678), TFAP2A(7020), OPN1MW(2652), ALDH3A2(224), VHL(7428), CLN5(1203), TPP1(1200), CLN3(1201), APTX(54840), MTTP(4547), CABC1(56997), PGK1(5230), CLDN19(149461), BBS5(129880), SALL4(57167), HPS5(11234), GJC2(57165), CC2D2A(57545), EDNRB(1910), ATXN7(6314), IKBKG(8517), USH2A(7399), CP(1356), GUCY2D(3000), COX15(1355), USH1G(124590), ATXN1(6310), ATXN2(6311), ELOVL4(6785), CLRN1(7401), UQCRB(7381), MYO7A(4647), SALL1(6299), CRX(1406), TMEM216(51259), PTGS1(5742), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), NUP62(23636), SURF1(6834), MCOLN1(57192), NR2E3(10002), C10orf2(56652), AP3B1(8546), CREBBP(1387), CNNM4(26504), NAGA(4668), RAB23(51715), CACNA1F(778), MAN2B1(4125), APOB(338), HCCS(3052), C1QTNF5(114902), CNGB3(54714), SDHD(6392), KRIT1(889), SDHB(6390), SDHA(6389), INPP5E(56623), PDE6B(5158), COL11A1(1301), PDSS2(57107), APC(324), NDP(4693), NDUFA1(4694), NDUFA2(4695), COL4A1(1282), USH1C(10083), PDSS1(23590), COL2A1(1280), PEX26(55670), TTC8(123016), TUBA8(51807), POMGNT1(55624), VPS13B(157680), ABCC6(368), COX6B1(1340), HPS3(84343), PORCN(64840), PEX3(8504), NDUFS1(4719), NDUFS3(4722), DPYD(1806), NDUFV1(4723), NDUFS2(4720), HADHB(3032), PANK2(80025), TYR(7299), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), NDUFS8(4728), HADHA(3030), CHD7(55636), HSD17B10(3028), SLC25A15(10166), PEX19(5824), ARSA(410), ABCD3(5825), PLOD1(5351), EP300(2033), PEX2(5828), SLC19A2(10560), LARGE(9215), PEX5(5830), TULP1(7287), SPG7(6687), PLP1(5354), NDUFAF2(91942), FLNB(2317), CTNS(1497), IDS(3423), SOX10(6663), TTR(7276), SOX2(6657), MITF(4286), UQCRQ(27089), PMM2(5373), NEU1(4758), POMT1(10585), ASPA(443), PRPF8(10594), NDUFAF3(25915), IQCB1(9657), TSC1(7248), TSC2(7249), NF2(4771), L2HGDH(79944), CTSD(1509), ASAH1(427), ARX(170302), TNFSF11(8600), ATIC(471), CDH3(1001), RS1(6247), PRPF3(9129), GSS(2937), EIF2B1(1967), FXN(2395), ALG3(10195), VCAN(1462), KRAS(3845), SEMA3E(9723), MMACHC(25974), PHYH(5264), HPS4(89781), NOTCH3(4854)]
ABNORMALITY OF THE PROSTATE(HP:0008775)	[PHF6(84295), BTK(695)]
ABNORMALITY OF THE PROXIMAL PHALANGES OF THE HAND(HP:0009834)	[TRPS1(7227), NOG(9241), PCNT(5116), HOXA13(3209), SALL4(57167), COL2A1(1280), GDF5(8200), IHH(3549), BMPR1B(658), FLNB(2317), CANT1(124583), ACVR1(90)]
ABNORMALITY OF THE PROXIMAL PHALANGES OF THE TOES(HP:0010184)	[TWIST1(7291), FGFR2(2263), CANT1(124583)]
ABNORMALITY OF THE PROXIMAL PHALANX OF THE 2ND FINGER(HP:0009544)	[GDF5(8200)]
ABNORMALITY OF THE PROXIMAL PHALANX OF THE 3RD FINGER(HP:0009358)	[GDF5(8200)]
ABNORMALITY OF THE PROXIMAL PHALANX OF THE HALLUX(HP:0010052)	[IHH(3549)]
ABNORMALITY OF THE PROXIMAL PHALANX OF THE THUMB(HP:0009618)	[FGF10(2255), FGFR3(2261), IHH(3549)]
ABNORMALITY OF THE PROXIMAL TIBIAL EPIPHYSIS(HP:0010591)	[COL11A1(1301)]
ABNORMALITY OF THE PUBIC BONES(HP:0003172)	[FRAS1(80144), MATN3(4148), TBX15(6913), DYM(54808), COL2A1(1280), FREM2(341640), WNT7A(7476), RUNX2(860)]
ABNORMALITY OF THE PULMONARY ARTERY(HP:0004414)	[FBN1(2200), TGFBR2(7048), SFTPB(6439), ZEB2(9839), TGFBR1(7046), MGP(4256), STRA6(64220), FLNA(2316), SLC17A3(10786), GPC6(10082), ACVRL1(94), SMAD9(4093), SLC37A4(2542), SLC2A10(81031), ELN(2006), SFTPA2(729238), CRTAP(10491), FOXF1(2294), LIFR(3977), LIPA(3988), GJA1(2697), GBA(2629), CRELD1(78987), COL1A1(1277), JAG1(182), BMPR2(659)]
ABNORMALITY OF THE PULMONARY VALVE(HP:0001641)	[FBN1(2200), GPC3(2719), TGFBR2(7048), ZEB2(9839), TGFBR1(7046), KRAS(3845), B3GALTL(145173), STRA6(64220), SEMA3E(9723), BRAF(673), MAP2K1(5604), INVS(27130), PTPN11(5781), MAP2K2(5605), PRKAR1A(5573), SOS1(6654), HRAS(3265), NF1(4763), ADAMTS10(81794), ZIC3(7547), COL1A1(1277), RAB23(51715), G6PC3(92579), CHD7(55636)]
ABNORMALITY OF THE PULMONARY VASCULATURE(HP:0004930)	[FBN1(2200), TGFBR2(7048), SFTPB(6439), ZEB2(9839), TGFBR1(7046), MGP(4256), STRA6(64220), FLNA(2316), DHCR24(1718), CECR(1055), SLC17A3(10786), GPC6(10082), WNT3(7473), ACVRL1(94), SMAD9(4093), SLC37A4(2542), ELN(2006), SLC2A10(81031), SFTPA2(729238), CRTAP(10491), FOXF1(2294), LIFR(3977), LIPA(3988), GJA1(2697), GBA(2629), CRELD1(78987), COL1A1(1277), JAG1(182), BMPR2(659)]
ABNORMALITY OF THE PUPILS(HP:0000615)	[SH3TC2(79628), PHYH(5264), AAAS(8086), TINF2(26277), DDC(1644), NME1(4830), RB1(5925), PEX7(5191), SIX6(4990)]
ABNORMALITY OF THE PYLORUS(HP:0004400)	[PTRF(284119), LAMB3(3914), LAMC2(3918), TBX3(6926), FGFR2(2263), NIPBL(25836), TFAP2A(7020), FLNA(2316), MTM1(4534), LAMA3(3909), MED12(9968), ITGB4(3691), DHCR7(1717), NPHS1(4868), HRAS(3265), ITGA6(3655)]
ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062)	[SLC25A15(10166), ARSA(410), PLA2G6(8398), ATL1(51062), LARGE(9215), DDC(1644), ATXN8(724066), SACS(26278), CCT5(22948), SETX(23064), GAN(8139), MAPT(4137), GJC2(57165), SPG7(6687), KIAA0196(9897), PLP1(5354), NDUFAF2(91942), REEP1(65055), SLC16A2(6567), SPAST(6683), ATXN7(6314), SLC19A3(80704), ATXN8OS(6315), ATXN3(4287), SLC33A1(9197), ABCB7(22), FAM126A(84668), TREX1(11277), ALS2(57679), FA2H(79152), ATXN1(6310), ZFYVE27(118813), NIPA1(123606), AP4M1(9179), NDUFAF3(25915), SPG11(80208), KIF5A(3798), PRKRA(8575), SLC6A3(6531), MCOLN1(57192), L2HGDH(79944), SPTBN2(6712), ACOX1(51), FKTN(2218), C20orf7(79133), OPA3(80207), MAN2B1(4125), GAD1(2571), CTDP1(9150), ZFYVE26(23503), FBXO7(25793), LMNB1(4001), GPR56(9289), SDHA(6389), MECP2(4204), HSPD1(3329), CYP7B1(9420), PRICKLE1(144165), PSAP(5660), AAAS(8086), SPG20(23111), KCNC3(3748), PSEN1(5663), ATXN10(25814), L1CAM(3897), SLC2A1(6513), NDUFA1(4694), TREM2(54209), COL4A1(1282), HEXB(3074), SOD1(6647), FXN(2395), FTL(2512), BSCL2(26580), CHMP2B(25978), MFN2(9927), NDUFA11(126328), NDUFAF4(29078), KCNA1(3736), NDUFS1(4719), ATP13A2(23400), DPYS(1807), NDUFV1(4723), NDUFS2(4720), KDM5C(8242), PANK2(80025), NDUFS6(4726), NDUFS4(4724), TYROBP(7305), SDHAF1(644096)]
ABNORMALITY OF THE RADIAL HEAD(HP:0003995)	[FBN1(2200), NOG(9241), CD96(10225), CHRNG(1146), TBX15(6913), ATR(545), GPC6(10082), NIPBL(25836), FLNA(2316), GLI3(2737), LMX1B(4010)]
ABNORMALITY OF THE RADIOULNAR JOINTS(HP:0003059)	[CANT1(124583)]
ABNORMALITY OF THE RADIUS(HP:0002818)	[FBN1(2200), NPR2(4882), TWIST1(7291), TBX15(6913), ATR(545), SALL4(57167), TBX3(6926), LMBR1(64327), B4GALT7(11285), FLNA(2316), FLNB(2317), GLI3(2737), ESCO2(157570), NOG(9241), FANCD2(2177), FANCC(2176), FANCE(2178), IHH(3549), MIPOL1(145282), CHRNG(1146), POR(5447), RECQL4(9401), EXT2(2132), WHCR(7467), CD96(10225), ZBTB16(7704), WHSC1(7468), EXT1(2131), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), MMP13(4322), COL11A1(1301), LMX1B(4010), FGF10(2255), CECR(1055), HOXA11(3207), GPC6(10082), WNT7A(7476), TBX5(6910), PCNT(5116), TRIP11(9321), FANCA(2175), NIPBL(25836), SHOX(6473), HOXD13(3239), RPS19(6223), LEPRE1(64175)]
ABNORMALITY OF THE RECTUM(HP:0002034)	[MKKS(8195), SALL1(6299), RPS6KA3(6197), SALL4(57167), CCBE1(147372), DKC1(1736), PTEN(5728), CYBA(1535), CYBB(1536), NCF2(4688), ITGB2(3689), CFTR(1080), NCF1(653361), STK11(6794), VANGL1(81839), SMAD4(4089), RECQL4(9401), MNX1(3110), UBR1(197131), BMPR1A(657)]
ABNORMALITY OF THE RENAL ARTERY(HP:0008776)	[RET(5979), KIF1B(23095), NF1(4763), SDHD(6392), SDHB(6390), VHL(7428)]
ABNORMALITY OF THE RENAL COLLECTING SYSTEM(HP:0004742)	[EYA1(2138)]
ABNORMALITY OF THE RENAL TUBULES(HP:0000091)	[PLCE1(51196), AMN(81693), RET(5979), LYZ(4069), SFTPB(6439), SFTPC(6440), HPS5(11234), SCARB2(950), ERCC6(2074), CTNS(1497), NPHS1(4868), BLOC1S3(388552), NPHP1(4867), HNF1B(6928), MYH9(4627), CUBN(8029), PMM2(5373), NEU1(4758), FN1(2335), GLA(2717), UPK3A(7380), LAMB2(3913), KIF1B(23095), PKHD1(5314), LRP2(4036), ETFDH(2110), ETFB(2109), ETFA(2108), LCAT(3931), INVS(27130), ADAMTS13(11093), ATP7B(540), HPS6(79803), NPHP4(261734), NPHS2(7827), SDHD(6392), ERCC8(1161), SDHB(6390), OCRL(4952), LMX1B(4010), PAX2(5076), MUT(4594), COL4A6(1288), MEFV(4210), BSND(7809), SLC17A3(10786), APOA1(335), NPHP3(27031), CFH(3075), COL4A5(1287), FGA(2243), DTNBP1(84062), SMARCAL1(50485), LMNB2(84823), CLCN5(1184), SLC37A4(2542), COX6B1(1340), G6PC(2538), C3(718), HPS3(84343), CLCNKB(1188), HPS1(3257), NIPBL(25836), MMACHC(25974), VHL(7428), FASTKD2(22868), HPS4(89781), GBE1(2632)]
ABNORMALITY OF THE RENIN-ALDOSTERONE AXIS(HP:0003350)	[SCNN1G(6340), SCNN1B(6338), CYP11B2(1585), CYP11B1(1584)]
ABNORMALITY OF THE RETINA(HP:0000479)	[FBN1(2200), LRAT(9227), FKRP(79147), RET(5979), EFEMP1(2202), MERTK(10461), TINF2(26277), SACS(26278), CLN6(54982), HSD17B4(3295), HSD11B2(3291), PRPH2(5961), NPHP1(4867), CDH23(64072), COQ2(27235), ABCA4(24), CTSA(5476), RDH5(5959), SPATA7(55812), BBS9(27241), GNPTAB(79158), GLB1(2720), OPN1LW(5956), RHO(6010), LYST(1130), TIMP3(7078), B3GALTL(145173), ACOX1(51), FKTN(2218), NPHP4(261734), NDUFS7(374291), MKKS(8195), OPN1SW(611), CYP4V2(285440), BCS1L(617), BBS12(166379), FGF23(8074), COL18A1(80781), GPR98(84059), OAT(4942), C8orf38(137682), RBP4(5950), TNFRSF11B(4982), BBS1(582), BBS2(583), BBS4(585), BBS10(79738), CCND1(595), FASTKD2(22868), RB1(5925), CRB1(23418), SMPD1(6609), RPGR(6103), RP2(6102), TRIM32(22954), RP1(6101), ERCC3(2071), RP9(6100), ARL6(84100), ERCC6(2074), SEMA4A(64218), TREX1(11277), KL(9365), PRPF31(26121), MFSD8(256471), SPG11(80208), GALNT3(2591), DLD(1738), CNGB1(1258), MKS1(54903), AGXT(189), RPE65(6121), ETHE1(23474), JAG1(182), POMT2(29954), ZFYVE26(23503), PAX6(5080), WFS1(7466), ERCC8(1161), FZD4(8322), CEP290(80184), PAX2(5076), CA4(762), PPT1(5538), TRIM37(4591), AHI1(54806), WRN(7486), RLBP1(6017), HEXA(3073), TEAD1(7003), HEXB(3074), PCDH15(65217), COQ9(57017), HGSNAT(138050), IMPDH1(3614), BEST1(7439), PROM1(8842), TERC(7012), TERT(7015), CLCNKB(1188), TIMM8A(1678), OPN1MW(2652), TFAP2A(7020), VHL(7428), ALDH3A2(224), CLN5(1203), TPP1(1200), CLN3(1201), APTX(54840), MTTP(4547), CABC1(56997), CLDN19(149461), PGK1(5230), BBS5(129880), SALL4(57167), CC2D2A(57545), EDNRB(1910), ATXN7(6314), USH2A(7399), IKBKG(8517), CP(1356), GUCY2D(3000), COX15(1355), USH1G(124590), ELOVL4(6785), ATXN2(6311), CLRN1(7401), UQCRB(7381), MYO7A(4647), SALL1(6299), CRX(1406), TMEM216(51259), PTGS1(5742), KIF1B(23095), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), MCOLN1(57192), SURF1(6834), NR2E3(10002), CREBBP(1387), CNNM4(26504), CACNA1F(778), MAN2B1(4125), APOB(338), HCCS(3052), C1QTNF5(114902), SDHD(6392), CNGB3(54714), KRIT1(889), SDHB(6390), INPP5E(56623), SDHA(6389), PDE6B(5158), COL11A1(1301), PDSS2(57107), APC(324), NDP(4693), NDUFA2(4695), COL4A1(1282), PDSS1(23590), USH1C(10083), COL2A1(1280), TTC8(123016), PEX26(55670), POMGNT1(55624), VPS13B(157680), COX6B1(1340), ABCC6(368), PORCN(64840), PEX3(8504), NDUFS3(4722), NDUFV1(4723), HADHB(3032), PANK2(80025), TYR(7299), BBS7(55212), ALMS1(7840), NDUFS4(4724), NDUFS8(4728), HADHA(3030), HSD17B10(3028), CHD7(55636), SLC25A15(10166), PEX19(5824), PLOD1(5351), EP300(2033), ABCD3(5825), PEX2(5828), LARGE(9215), PEX5(5830), TULP1(7287), CTNS(1497), FLNB(2317), IDS(3423), SOX10(6663), MITF(4286), UQCRQ(27089), PMM2(5373), NEU1(4758), POMT1(10585), PRPF8(10594), IQCB1(9657), TSC1(7248), TSC2(7249), NF2(4771), CTSD(1509), ASAH1(427), CDH3(1001), RS1(6247), PRPF3(9129), GSS(2937), ALG3(10195), VCAN(1462), MMACHC(25974), SEMA3E(9723), PHYH(5264), NOTCH3(4854)]
ABNORMALITY OF THE RETINAL PIGMENT EPITHELIUM(HP:0008051)	[SLC25A15(10166), RHO(6010), RBP4(5950), IMPDH1(3614), BEST1(7439), PROM1(8842), RP1(6101), VCAN(1462), RP9(6100), TSC1(7248), TSC2(7249), NR2E3(10002), FLNB(2317), EDNRB(1910), IDS(3423), ATXN7(6314), PRPH2(5961), SOX10(6663), APC(324), TRIM37(4591), COL4A1(1282), GSS(2937), JAG1(182)]
ABNORMALITY OF THE RETINAL VASCULATURE(HP:0008046)	[IKBKG(8517), BEST1(7439), PTGS1(5742), ABCC6(368), PRPF3(9129), TREX1(11277), CLCNKB(1188), KRIT1(889), COL4A1(1282), FZD4(8322), LRP5(4041)]
ABNORMALITY OF THE RIBS(HP:0000772)	[FBN1(2200), ARSB(411), ATR(545), NSD1(64324), MGP(4256), VDR(7421), FLNA(2316), GLI3(2737), FLNB(2317), CTNS(1497), SGSH(6448), IKBKG(8517), NOG(9241), SOX9(6662), SOX2(6657), MATN3(4148), ADAMTS10(81794), PTCH1(5727), SLC35D1(23169), NSDHL(50814), IHH(3549), GNPTAB(79158), GLB1(2720), CHRNA1(1134), GPC3(2719), DYNC2H1(79659), CRTAP(10491), GALNS(2588), ROR2(4920), DDR2(4921), LBR(3930), GJA1(2697), CHRNG(1146), CHRND(1144), RECQL4(9401), COL1A1(1277), PTH1R(5745), NAGLU(4669), JAG1(182), MAN2B1(4125), ATP7A(538), EXT2(2132), WHCR(7467), WHSC1(7468), EXT1(2131), RAPSN(5913), FGFR3(2261), EVC2(132884), MMP13(4322), PAX3(5077), CYP2R1(120227), LMX1B(4010), SLC26A2(1836), PTPN11(5781), RMRP(6023), GNS(2799), CYP27B1(1594), SBDS(51119), DYM(54808), COL2A1(1280), WNT7A(7476), EVC(2121), GDF6(392255), TBCE(6905), HGSNAT(138050), TRIP11(9321), SOST(50964), PORCN(64840), SEMA3E(9723), NIPBL(25836), LIFR(3977), RUNX2(860), DLL3(10683), FAM123B(139285), HOXD13(3239), DOK7(285489), SLC34A3(142680), ALPL(249), CUL7(9820), RPS19(6223), CHD7(55636), LEPRE1(64175)]
ABNORMALITY OF THE SACRUM(HP:0005107)	[WHCR(7467), CD96(10225), WHSC1(7468), TBX15(6913), ROR2(4920), FLNB(2317), TRPV4(59341), MED12(9968), SLC26A2(1836), LBR(3930), VANGL1(81839), RPS19(6223), FUCA1(2517), RAB23(51715), MNX1(3110)]
ABNORMALITY OF THE SALIVARY GLANDS(HP:0010286)	[TCOF1(6949), FGF10(2255), TP63(8626), FGFR3(2261)]
ABNORMALITY OF THE SCALP(HP:0001965)	[TFAP2A(7020)]
ABNORMALITY OF THE SCAPULAE(HP:0000782)	[VCP(7415), TRPS1(7227), EXT2(2132), LMNA(4000), TBX15(6913), EXT1(2131), FGFR1(2260), FGFR3(2261), TBX3(6926), SGCB(6443), CAPN3(825), FLNA(2316), PAX3(5077), LMX1B(4010), EYA1(2138), PTPN11(5781), SOX9(6662), MYH7(4625), PTCH1(5727), KCNJ2(3759), DYM(54808), NSDHL(50814), SLC35D1(23169), GNPTAB(79158), GDF6(392255), TRIP11(9321), SOST(50964), EFNB1(1947), RUNX2(860), LBR(3930), ATP6V0A2(23545), TPM2(7169), FHL1(2273), ACTB(60)]
ABNORMALITY OF THE SCHWANN CELLS(HP:0100008)	[HRAS(3265), NF2(4771)]
ABNORMALITY OF THE SCLERA(HP:0000591)	[PLOD1(5351), ABCC6(368), TGFBR2(7048), PYCR1(5831), CRTAP(10491), CLCNKB(1188), TGFBR1(7046), PTEN(5728), MVK(4598), SLC39A13(91252), H19(283120), COL5A2(1290), ESCO2(157570), HGD(3081), COL5A1(1289), GJA1(2697), ALPL(249), COL1A2(1278), ZNF469(84627), PPIB(5479), COL1A1(1277), KIAA1279(26128), ADAMTS2(9509), GHR(2690)]
ABNORMALITY OF THE SCROTUM(HP:0000045)	[BMP4(652), EP300(2033), SNRPN(6638), SALL1(6299), ATRX(546), OPHN1(4983), ZEB2(9839), ICK(22858), IRF6(3664), TBX3(6926), SRD5A2(6716), FGFR2(2263), UPB1(51733), EFNB1(1947), BUB1B(701), DHCR7(1717), NDN(4692), CREBBP(1387), POR(5447), HOXA13(3209), FGD1(2245), AR(367), WNT7A(7476)]
ABNORMALITY OF THE SELLA TURCICA(HP:0002679)	[ADAMTSL2(9719), RMRP(6023), GUSB(2990), TRIM37(4591), SLC17A5(26503), PTCH1(5727), LHX4(89884), DYM(54808), PLOD3(8985), GNPTAB(79158)]
ABNORMALITY OF THE SENSE OF SMELL(HP:0004408)	[UCHL1(7345), SHH(6469), SCN9A(6335), MFN2(9927), ARSE(415), DNAI1(27019), KAL1(3730), TBP(6908), FGFR1(2260), MAPT(4137), PEX7(5191), SEMA3E(9723), PTPN11(5781), PHYH(5264), LRRK2(120892), PROKR2(128674), DBH(1621), CHD7(55636)]
ABNORMALITY OF THE SEPTUM PELLUCIDUM(HP:0007375)	[WHCR(7467), L1CAM(3897), WHSC1(7468), DOK7(285489), HCCS(3052), HESX1(8820), RAPSN(5913), NSD1(64324), FGFR2(2263), HYLS1(219844)]
ABNORMALITY OF THE SHOULDER(HP:0003043)	[VCP(7415), HSPG2(3339), TRPS1(7227), FKRP(79147), MYOT(9499), LMNA(4000), TRIM32(22954), MYH3(4621), SALL4(57167), SGCB(6443), CAPN3(825), FLNA(2316), PAX3(5077), EYA1(2138), LMX1B(4010), PTPN11(5781), ALX3(257), MYH7(4625), PTCH1(5727), KCNJ2(3759), MATR3(9782), ANO5(203859), TBX5(6910), EFNB1(1947), SEMA3E(9723), TRPV4(59341), ATP6V0A2(23545), TPM2(7169), RECQL4(9401), CHD7(55636), FHL1(2273)]
ABNORMALITY OF THE SHOULDER GIRDLE MUSCULATURE(HP:0001435)	[VCP(7415), FKRP(79147), TRPS1(7227), MYOT(9499), TBX5(6910), LMNA(4000), TRIM32(22954), SALL4(57167), SGCB(6443), CAPN3(825), PAX3(5077), FLNA(2316), EYA1(2138), PTPN11(5781), ALX3(257), ATP6V0A2(23545), MYH7(4625), KCNJ2(3759), TPM2(7169), MATR3(9782), ANO5(203859), FHL1(2273)]
ABNORMALITY OF THE SINUSES(HP:0000245)	[ATRX(546), DNAI1(27019), ATM(472), TNFRSF13B(23495), NBN(4683), MGP(4256), COL11A1(1301), FLNA(2316), TRIM37(4591), ALX3(257), KCNJ2(3759), BTK(695), FUCA1(2517), DNMT3B(1789), ADA(100), AGA(175), TXNDC3(51314), IL2RG(3561), CFI(3426), RUNX2(860), TAP1(6890), TAP2(6891), FAM123B(139285), WAS(7454), TAPBP(6892), PNP(4860), CTSK(1513), ICOS(29851)]
ABNORMALITY OF THE SKIN(HP:0000951)	[FBN1(2200), FKRP(79147), SUCLG1(8802), TINF2(26277), VPS33B(26276), SPINK5(11005), PPOX(5498), CCBE1(147372), MCCC2(64087), FERMT3(83706), H19(283120), DPM1(8813), EDARADD(128178), ABCA1(19), HRAS(3265), SNAI2(6591), FANCD2(2177), DOLK(22845), CTSA(5476), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), FECH(2235), PPARG(5468), NOD2(64127), LYST(1130), SLC5A5(6528), B3GALTL(145173), SART3(9733), SLC29A3(55315), CHM(1121), MPL(4352), CHRNG(1146), MPV17(4358), POU1F1(5449), CHRND(1144), TNFRSF10B(8795), PUS1(80324), WNT10A(80326), SNRPN(6638), FH(2271), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN2A(1029), POLH(5429), FAM134B(54463), FGF10(2255), SOS1(6654), FGF3(2248), HOXA11(3207), CECR(1055), FGD1(2245), ACVRL1(94), EDAR(10913), FGA(2243), C8orf38(137682), ACVR1(90), PTRF(284119), FOXC2(2303), CNBP(7555), ADAR(103), MSH2(4436), HPGD(3248), CCM2(83605), CETP(1071), PMS2(5395), HPS1(3257), ALOXE3(59344), WNK1(65125), HSD3B7(80270), SPRED1(161742), CTSC(1075), SMPD1(6609), ERBB3(2065), PRNP(5621), ABCA12(26154), ERCC2(2068), TRIM32(22954), SFTPB(6439), ERCC3(2071), ERCC5(2073), SFTPC(6440), ERCC4(2072), ERCC6(2074), SEMA4A(64218), PROC(5624), PROS1(5627), MAP2K1(5604), SGSH(6448), MAP2K2(5605), SH3BP2(6452), BLOC1S3(388552), ABCC2(1244), HLCS(3141), MFRP(83552), AGA(175), AFP(174), SOX18(54345), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), PRKAR1A(5573), NR0B1(190), AGXT(189), COL1A2(1278), WNT4(54361), XPC(7508), ZNF469(84627), COL1A1(1277), PRKCA(5578), XPA(7507), MSX1(4487), GJB6(10804), WHCR(7467), HK1(3098), WHSC1(7468), ERCC8(1161), CEP290(80184), MVK(4598), MUTYH(4595), EYA1(2138), MED12(9968), HGD(3081), TRIM37(4591), ALDH1A1(216), ALDH2(217), NCF1(653361), WRN(7486), SLC17A3(10786), SLC2A2(6514), HEXA(3073), HEXB(3074), ABCD1(215), CFH(3075), SLC4A1(6521), HFE(3077), CLCNKA(1187), NOP10(55505), SMARCAL1(50485), BEST1(7439), F13A1(2162), F11(2160), CLCNKB(1188), FANCA(2175), WISP3(8838), ALDOB(229), SLC39A13(91252), ALDOA(226), ALDH3A2(224), VHL(7428), COX4I2(84701), PPP1R3A(5506), VWF(7450), WAS(7454), GORAB(92344), ALPL(249), F9(2158), CARD9(64170), F8(2157), ALOX12B(242), CPOX(1371), SCN9A(6335), CPN1(1369), CLDN1(9076), NSD1(64324), ANCR(282), HPS5(11234), VDR(7421), SCN2A(6326), ANK1(286), SLC6A19(340024), FERMT1(55612), ESCO2(157570), SLC7A7(9056), ABCB4(5244), ALX3(257), COX15(1355), PAPSS2(9060), GNE(10020), MC2R(4158), SALL1(6299), CRX(1406), SLC2A10(81031), PEX10(5192), PEX14(5195), SAT1(6303), PEX13(5194), AIP(9049), PEX1(5189), UROD(7389), PSTPIP1(9051), PEX7(5191), UROS(7390), IL2RG(3561), PEPD(5184), NR2E3(10002), C10orf2(56652), PFKM(5213), SLC17A5(26503), CREBBP(1387), ATP8B1(5205), MAN2B1(4125), MANBA(4126), APOB(338), APOA2(336), SDHD(6392), COL17A1(1308), SDHC(6391), SDHB(6390), NHP2(55651), SDHA(6389), APOE(348), COL8A2(1296), MECP2(4204), AMACR(23600), PDGFRA(5156), AIRE(326), COL5A2(1290), COL6A1(1291), APC(324), COL5A1(1289), COL7A1(1294), MEFV(4210), COL6A2(1292), COL6A3(1293), LEMD3(23592), COL4A1(1282), GPC6(10082), APOA1(335), COL2A1(1280), FUCA1(2517), UBE3A(7337), MEN1(4221), COL3A1(1281), COL4A5(1287), TTC8(123016), PEX26(55670), BSCL2(26580), LMNB2(84823), SLC37A4(2542), POMGNT1(55624), VPS13B(157680), SLC39A4(55630), ABCC6(368), G6PD(2539), GLMN(11146), G6PC(2538), PLOD3(8985), TMC8(147138), PANK2(80025), TYR(7299), IGHMBP2(3508), CDAN1(146059), FAS(355), TYROBP(7305), TYRP1(7306), UGT1A1(54658), CHD7(55636), ARSB(411), PLOD1(5351), ARSE(415), STS(412), RPS6KA3(6197), SERPINF2(5345), FLG(2312), CTNNB1(1499), FLNA(2316), PLOD2(5352), FLNB(2317), CTNS(1497), IDS(3423), TTR(7276), MITF(4286), TTPA(7274), FLT4(2324), PMM2(5373), TRMU(55687), OSMR(9180), PKLR(5313), CYBA(1535), TSC1(7248), CYB5A(1528), TSC2(7249), CFI(3426), ASAH1(427), ARX(170302), ADAMTS13(11093), ORAI1(84876), MBTPS2(51360), KITLG(4254), PLG(5340), CTSK(1513), POMP(51371), PLEC(5339), MGAT2(4247), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), BCMO1(53630), ATM(472), PIK3CA(5290), ATIC(471), LMBRD1(55788), PRKAG2(51422), TRH(7200), HR(55806), HYAL1(3373), DCLRE1C(64421), MLH1(4292), FTO(79068), PHYH(5264), PI3(5266), ANTXR2(118429), MMP2(4313), ATP2A2(488), HPS4(89781), TPM2(7169), RPS19(6223), MASTL(84930), PLCE1(51196), DDB1(1642), LRAT(9227), RET(5979), DDB2(1643), NPR2(4882), TGM1(7051), DDC(1644), ATR(545), TGFBR1(7046), TGFB1(7040), GLI3(2737), DCR(1637), GLE1(2733), NOG(9241), NPHS1(4868), KIT(3815), THPO(7066), NPC1(4864), CRLF1(9244), GLB1(2720), GLA(2717), RHO(6010), GPC3(2719), NTRK1(4914), MRPS22(56945), SEC23A(10484), ROR2(4920), RHAG(6005), GJB2(2706), SEC23B(10483), GJB3(2707), GTF2H5(404672), GJA1(2697), FST(10468), KDR(3791), ATP7A(538), NDUFS7(374291), GP1BA(2811), MKKS(8195), GP9(2815), GP1BB(2812), OCA2(4948), OCRL(4952), GDF5(8200), BCS1L(617), FGF23(8074), AAAS(8086), GPR143(4935), GNS(2799), RAG2(5897), CYP27A1(1593), RAG1(5896), TNFRSF1A(7132), DTNBP1(84062), CYP11B1(1584), OPA1(4976), ABHD5(51099), GNAS(2778), RBP4(5950), TNXB(7148), JUP(3728), TRIP11(9321), BBS1(582), BBS2(583), CYLD(1540), BBS4(585), CYBB(1536), NIPBL(25836), JAK2(3717), BBS10(79738), CCND1(595), SNAP29(9342), TPI1(7167), TGM5(9333), BTD(686), TBXAS1(6916), EFEMP2(30008), TBX15(6913), ARL6(84100), GATA1(2623), TBX3(6926), BRAF(673), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ALS2(57679), TREX1(11277), KL(9365), BTK(695), TCOF1(6949), PAH(5053), BMP4(652), GALE(2582), ITGA2B(3674), TMC6(11322), DKC1(1736), IRF6(3664), GALNT3(2591), DLD(1738), BLM(641), GALK1(2584), BPGM(669), MKS1(54903), DOCK8(81704), RECQL4(9401), MRPS16(51021), ETHE1(23474), HPS6(79803), BMPR2(659), ITGA6(3655), INSR(3643), EHMT1(79813), FLCN(201163), GGCX(2677), PAX3(5077), ZMPSTE24(10269), DGUOK(1716), DHCR7(1717), DGCR(1714), SAMD9(54809), CYB5R3(1727), EPM2A(7957), ING1(3621), C1R(715), HGSNAT(138050), C2(717), CLCF1(23529), PCNT(5116), TERC(7012), TERT(7015), C3(718), ROBLD3(28956), TFAP2A(7020), SERPING1(710), PCCB(5096), ATP6V0A2(23545), GBA(2629), GJB4(127534), GBE1(2632), C4A(720), CHST3(9469), PCCA(5095), C5(727), TGFA(7039), P2RY12(64805), GUSB(2990), LYZ(4069), BBS5(129880), SLURP1(57152), MYH3(4621), SETX(23064), EDN3(1908), EDNRB(1910), EDA(1896), IKBKG(8517), FOXP3(50943), IKBKAP(8518), PDE11A(50940), CDKL5(6792), STK11(6794), PTCH1(5727), MYH9(4627), RAB7A(7879), SMAD4(4089), ECM1(1893), SMAD9(4093), MSH6(2956), MYO5A(4644), PTGS1(5742), KIF1B(23095), LRP2(4036), PTEN(5728), SURF1(6834), AP3B1(8546), NAGA(4668), RAB23(51715), PTH1R(5745), NAGLU(4669), SUOX(6821), CACNA1F(778), ADAMTS2(9509), PRSS1(5644), HBG2(3048), LMNB1(4001), HCCS(3052), LMNA(4000), NPHS2(7827), KRIT1(889), LOX(4015), HBB(3043), NBN(4683), LOR(4014), NHLRC1(378884), LMX1B(4010), SLC26A2(1836), NCF2(4688), CUL4B(8450), LPL(4023), NDN(4692), DSP(1832), BSND(7809), TREM2(54209), NDUFA2(4695), DSG1(1828), TMPRSS15(5651), ALX4(60529), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), RUNX1(861), LIFR(3977), EBP(10682), TAP1(6890), NDUFS3(4722), TAP2(6891), NDUFV1(4723), LIPA(3988), OFD1(8481), BBS7(55212), HBA1(3039), TAPBP(6892), NDUFS4(4724), ALMS1(7840), DPAGT1(1798), CASP10(843), CXCR4(7852), NDUFS8(4728), CASP8(841), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), SLC19A2(10560), LDLR(3949), PEX5(5830), PYCR1(5831), ALDH18A1(5832), STOM(2040), RBM28(55131), SOX10(6663), SOX9(6662), NPC2(10577), NF1(4763), ENG(2022), NSDHL(50814), ABCB11(8647), NEU1(4758), SPTB(6710), LAMB3(3914), SPTA1(6708), LAMB1(3912), LAMB2(3913), GPI(2821), ELN(2006), PRPF8(10594), LAMC2(3918), AKR1D1(6718), NF2(4771), LAMA3(3909), LBR(3930), RAB27A(5873), MLC1(23209), MRAP(56246), NFKBIA(4792), KRT81(3887), CDK4(1019), NGF(4803), KRT17(3872), CDH3(1001), PTPN11(5781), ATP2C1(27032), FBLN5(10516), NME1(4830), GSN(2934), KRT86(3892), KRT83(3889), KRT85(3891), KRT6B(3854), ADAMTSL2(9719), ST14(6768), KRT5(3852), KRT6A(3853), STAT3(6774), KRT1(3848), KRT2(3849), NLRP3(114548), TP63(8626), KRAS(3845), SEMA3E(9723), EFNB1(1947), SUMF1(285362), KRT16(3868), AGPAT2(10555), KRT14(3861), PVRL1(5818), SPTLC1(10558), NOTCH3(4854), KRT10(3858), KRT9(3857)]
ABNORMALITY OF THE SKULL(HP:0000929)	[FBN1(2200), FBN2(2201), FKRP(79147), VPS33B(26276), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), EDARADD(128178), SLC16A2(6567), SLC35C1(55343), KCNQ1OT1(10984), ABAT(18), HRAS(3265), FANCD2(2177), FANCC(2176), DOLK(22845), PPIB(5479), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), ACADSB(36), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), C20orf7(79133), CHRNG(1146), MPV17(4358), POU1F1(5449), CHRNE(1145), CHRND(1144), POR(5447), PUS1(80324), ACTB(60), SNRPN(6638), FH(2271), UPF3B(65109), LHX4(89884), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN1C(1028), POLH(5429), FGF10(2255), FGF3(2248), CECR(1055), FGD1(2245), ASPM(259266), EDAR(10913), FOXC2(2303), ADA(100), HPGD(3248), SMCR(6600), ICK(22858), NDUFA11(126328), HOXD13(3239), CUL7(9820), SPRED1(161742), TUBB2B(347733), ERBB3(2065), ERCC2(2068), TRIM32(22954), ERCC3(2071), PRPS1(5631), STRA6(64220), ERCC6(2074), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), MTHFR(4524), ZIC1(7545), ADSL(158), MAPK10(5602), AGA(175), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), COL1A2(1278), ZNF469(84627), KIAA1279(26128), COL1A1(1277), JAG1(182), AGT(183), RAB3GAP1(22930), XPA(7507), CNTN1(1272), WHCR(7467), WHSC1(7468), SIX3(6496), ERCC8(1161), CEP290(80184), MVK(4598), MED12(9968), EIF2B2(8892), EIF2B5(8893), PPT1(5538), TRIM37(4591), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), WNT3(7473), HEXB(3074), PHGDH(26227), NOP10(55505), FRAS1(80144), SHH(6469), FANCA(2175), TSEN54(283989), SHOX(6473), COX4I2(84701), WAS(7454), GORAB(92344), ALPL(249), LEPRE1(64175), ANCR(282), NSD1(64324), VDR(7421), ESCO2(157570), ALX3(257), GNE(10020), IHH(3549), SC5DL(6309), SALL1(6299), TMEM216(51259), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), RAB39B(116442), PEX1(5189), PEX7(5191), IL2RG(3561), C10orf2(56652), SLC17A5(26503), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), MAN2B1(4125), PDHA1(5160), NHP2(55651), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), IGF1(3479), IGBP1(3476), GPC6(10082), IGF1R(3480), FUCA1(2517), UBE3A(7337), TTC8(123016), PEX26(55670), PQBP1(10084), POMGNT1(55624), VPS13B(157680), UBA1(7317), TXNDC3(51314), PLOD3(8985), ATPAF2(91647), CHD7(55636), ARSB(411), PLOD1(5351), ARSE(415), LARGE(9215), TWIST1(7291), RPS6KA3(6197), MGP(4256), BRWD3(254065), PLP1(5354), FLNA(2316), PLOD2(5352), FLNB(2317), CTNS(1497), IDS(3423), MID1(4281), PMM2(5373), NKX2-5(1482), FMR1(2332), AP4M1(9179), ASPA(443), LRPPRC(10128), TSHB(7252), SP110(3431), CFI(3426), CTSD(1509), ARX(170302), PLG(5340), CTSK(1513), MGAT2(4247), HSPG2(3339), TRPS1(7227), CD96(10225), ATM(472), ATIC(471), HSPD1(3329), PITX2(5308), ALG3(10195), PHEX(5251), CDK5RAP2(55755), FTO(79068), HYLS1(219844), CSF3R(1441), MMP2(4313), TPM2(7169), RPS19(6223), G6PC3(92579), CENPJ(55835), NPR2(4882), ATRX(546), TGFBR2(7048), ATR(545), TGFBR1(7046), ACE(1636), REN(5972), TGFB1(7040), GLI3(2737), DCR(1637), GLE1(2733), CRLF1(9244), ADAMTS10(81794), RPGRIP1L(23322), EMG1(10436), GLB1(2720), GPC3(2719), DYNC2H1(79659), CRTAP(10491), SEC23A(10484), ROR2(4920), DDR2(4921), MCPH1(79648), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), ATP7A(538), KCNJ11(3767), MKKS(8195), RAPSN(5913), COL18A1(80781), AAAS(8086), GNS(2799), CYP27B1(1594), RAG2(5897), RAG1(5896), KCNJ2(3759), KCNJ1(3758), GNAS(2778), TRIP11(9321), BBS1(582), TNFRSF11B(4982), BBS2(583), OPHN1(4983), TNNI2(7136), BBS4(585), NDUFAF4(29078), TNNT3(7140), NIPBL(25836), BBS10(79738), ZFPM2(23414), SNAP29(9342), KDM5C(8242), TMEM70(54968), FAM123B(139285), DOK7(285489), PLA2G6(8398), SLC25A22(79751), TBX15(6913), ZIC4(84107), ARL6(84100), GATA1(2623), TCF4(6925), BRAF(673), B4GALT7(11285), BUB1B(701), TREX1(11277), BTK(695), TCIRG1(10312), DNMT3B(1789), PAH(5053), TCOF1(6949), BMP4(652), PAFAH1B1(5048), DLAT(1737), DKC1(1736), BLM(641), PSAT1(29968), MKS1(54903), DLX3(1747), GNPAT(8443), RECQL4(9401), PDHX(8050), DMP1(1758), POMT2(29954), GAD1(2571), EHMT1(79813), B4GALT1(2683), TNFRSF13B(23495), PAX3(5077), ZMPSTE24(10269), INS(3630), DHCR24(1718), RMRP(6023), DGUOK(1716), CA2(760), DHCR7(1717), GDF1(2657), DGCR(1714), FAM20C(56975), DYM(54808), CYB5R3(1727), SH3PXD2B(285590), GFAP(2670), PAK3(5063), HGSNAT(138050), ALG1(56052), GCK(2645), PCNT(5116), SOST(50964), CHST14(113189), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), GCDH(2639), MYCN(4613), TBX4(9496), GUSB(2990), BBS5(129880), MYH3(4621), EDA(1896), IKBKG(8517), CDKL5(6792), MYH8(4626), PTCH1(5727), LRP2(4036), LRP5(4041), PTEN(5728), UPB1(51733), MCOLN1(57192), ABCC8(6833), AP3B1(8546), RAI1(10743), RAB23(51715), NAGLU(4669), PTH1R(5745), ICOS(29851), ADAMTS2(9509), LMNA(4000), HCCS(3052), NBN(4683), CYP2R1(120227), PRPS2(5634), SLC26A2(1836), NDN(4692), PHF6(84295), NDUFA1(4694), RELN(5649), SYN1(6853), ALX4(60529), ANKH(56172), TUBA8(51807), TBCE(6905), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), LIFR(3977), RUNX2(860), EBP(10682), DPYD(1806), TUBA1A(7846), TAP1(6890), NDUFV1(4723), DPYS(1807), TAP2(6891), NDUFS2(4720), OFD1(8481), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), TAPBP(6892), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), PEX5(5830), PYCR1(5831), ALDH18A1(5832), NDUFAF2(91942), RBM28(55131), SOX9(6662), SOX2(6657), NF1(4763), NSDHL(50814), SLC35D1(23169), POMT1(10585), NDUFAF3(25915), QDPR(5860), D2HGDH(728294), PNPO(55163), LBR(3930), MLC1(23209), GFM1(85476), NFKBIA(4792), SPR(6697), TNFSF11(8600), ZBTB16(7704), DNAI1(27019), PTPN11(5781), L1CAM(3897), EIF2B1(1967), FREM2(341640), RNASET2(8635), ADAMTSL2(9719), STAT3(6774), TP63(8626), KRAS(3845), PTS(5805), EFNB1(1947), MMACHC(25974), SEMA3E(9723), PNP(4860), SLC34A3(142680)]
ABNORMALITY OF THE SKULL BASE(HP:0002693)	[ANKH(56172), LBR(3930), ABAT(18), BUB1B(701), ZIC1(7545), ZIC4(84107), FGFR2(2263), HYLS1(219844), PTH1R(5745), TGFB1(7040), FLNA(2316)]
ABNORMALITY OF THE SMALL INTESTINE(HP:0002244)	[MYCN(4613), SAR1B(51128), PRSS1(5644), WHCR(7467), PEX2(5828), APOB(338), WHSC1(7468), FGFR1(2260), CCBE1(147372), GATA1(2623), DCR(1637), MPI(4351), SBDS(51119), ENG(2022), FREM2(341640), PEX26(55670), FRAS1(80144), SALL1(6299), GPC3(2719), AKR1D1(6718), PEX1(5189), SEMA3E(9723), COX4I2(84701), LIPA(3988), SPINK1(6690), HSD3B7(80270), PLG(5340), MTTP(4547), CHD7(55636)]
ABNORMALITY OF THE SPINAL CORD(HP:0002143)	[EP300(2033), ARSB(411), MYH3(4621), CCBE1(147372), SALL4(57167), SETX(23064), CCT5(22948), PRPS1(5631), FLNB(2317), IDS(3423), ABCA1(19), NF1(4763), PTCH1(5727), ENG(2022), GNPTAB(79158), GLB1(2720), AFP(174), IRF6(3664), GALNS(2588), PTEN(5728), NF2(4771), DDR2(4921), C10orf2(56652), GJA1(2697), CREBBP(1387), VANGL1(81839), RECQL4(9401), RAB23(51715), TNFRSF11A(8792), EXT2(2132), SQSTM1(8878), ENPP1(5167), COMP(1311), EXT1(2131), APP(351), APOE(348), POLG(5428), PAX3(5077), LMX1B(4010), PTPN11(5781), SLC26A2(1836), RMRP(6023), PSEN1(5663), NME1(4830), COL2A1(1280), ACVRL1(94), FOXC2(2303), PHEX(5251), PORCN(64840), RUNX2(860), TRPV4(59341), HOXD13(3239), FAM123B(139285), CUL7(9820), MNX1(3110)]
ABNORMALITY OF THE SPINAL DURA MATER(HP:0009744)	[FOXC2(2303)]
ABNORMALITY OF THE SPINAL MENINGES(HP:0010303)	[FOXC2(2303)]
ABNORMALITY OF THE SPLEEN(HP:0001743)	[MYCN(4613), GUSB(2990), CPOX(1371), LYZ(4069), SH2D1A(4068), FERMT3(83706), DPM1(8813), ANK1(286), ESCO2(157570), FAH(2184), ABCB4(5244), SLC7A7(9056), ABCA1(19), THPO(7066), NPC1(4864), CTSA(5476), GNE(10020), GNPTAB(79158), GLB1(2720), SC5DL(6309), GPC3(2719), LYST(1130), UROS(7390), SLC29A3(55315), SEC23B(10483), C10orf2(56652), MPL(4352), AP3B1(8546), MPV17(4358), SLC17A5(26503), ATP8B1(5205), NAGLU(4669), RAB23(51715), MAN2B1(4125), GP1BA(2811), HBB(3043), APOE(348), APOC2(344), PDGFRA(5156), AIRE(326), NCF2(4688), PSAP(5660), LPL(4023), GNS(2799), MEFV(4210), RAG2(5897), RAG1(5896), APOA1(335), FUCA1(2517), FGA(2243), PTRF(284119), BSCL2(26580), ADA(100), SLC39A4(55630), G6PD(2539), CYBB(1536), JAK2(3717), LIPA(3988), TPI1(7167), HSD3B7(80270), FAS(355), GAA(2548), CASP10(843), CASP8(841), CASR(846), SMPD1(6609), PIGM(93183), ABCD3(5825), ARSB(411), BTD(686), CD40LG(959), PEX2(5828), GATA1(2623), STRA6(64220), ERCC6(2074), ITK(3702), BRAF(673), CTNS(1497), MAP2K1(5604), IDS(3423), SGSH(6448), MAP2K2(5605), NPC2(10577), ZIC3(7547), TREX1(11277), ABCB11(8647), FMO3(2328), NEU1(4758), TCIRG1(10312), GALE(2582), GPI(2821), ABCG8(64241), PKLR(5313), ABCG5(64240), PKHD1(5314), AKR1D1(6718), CYBA(1535), LBR(3930), MKS1(54903), BPGM(669), ASAH1(427), TNFSF11(8600), WHCR(7467), HK1(3098), WHSC1(7468), DNAI1(27019), ERCC8(1161), TNFRSF13B(23495), MVK(4598), DGUOK(1716), CA2(760), NCF1(653361), WNT3(7473), HEXB(3074), NPHP3(27031), HFE(3077), SLC4A1(6521), HGSNAT(138050), ALG1(56052), DCLRE1C(64421), KRAS(3845), HYLS1(219844), ALDOA(226), CSF3R(1441), COX4I2(84701), GBA(2629), PNP(4860), AGPAT2(10555), GBE1(2632), G6PC3(92579)]
ABNORMALITY OF THE STERNUM(HP:0000766)	[FBN1(2200), RET(5979), FBN2(2201), ARSB(411), EP300(2033), GUSB(2990), EFEMP2(30008), TGFBR2(7048), RPS6KA3(6197), TGFBR1(7046), CCBE1(147372), VDR(7421), HSD17B4(3295), BRAF(673), PLOD2(5352), FLNA(2316), SLC16A2(6567), CTNS(1497), FLNB(2317), MAP2K1(5604), MAP2K2(5605), SOX10(6663), NOG(9241), BUB1B(701), SOX9(6662), HRAS(3265), PTCH1(5727), PPIB(5479), IHH(3549), FMR1(2332), GLB1(2720), GPC3(2719), SLC2A10(81031), CRTAP(10491), GALNS(2588), B3GALTL(145173), PTEN(5728), ROR2(4920), DDR2(4921), LBR(3930), FKTN(2218), RAB3GAP2(25782), GJA1(2697), CREBBP(1387), COL1A2(1278), PDHX(8050), MAN2B1(4125), MGAT2(4247), ATP7A(538), HSPG2(3339), TRPS1(7227), WHCR(7467), UPF3B(65109), CD96(10225), WHSC1(7468), ZEB2(9839), FGFR3(2261), EVC2(132884), LOX(4015), LMX1B(4010), PTPN11(5781), MED12(9968), SOS1(6654), FBLN5(10516), CYP27B1(1594), IGBP1(3476), DYM(54808), FGD1(2245), COL2A1(1280), IGF1R(3480), FREM2(341640), CBS(875), WNT7A(7476), EVC(2121), PQBP1(10084), ADAMTSL2(9719), FRAS1(80144), HPGD(3248), ABCC6(368), TBX5(6910), TNNT1(7138), KRAS(3845), NIPBL(25836), EFNB1(1947), TRPV4(59341), KDM5C(8242), FAM123B(139285), HOXD13(3239), SLC34A3(142680), ALPL(249), CUL7(9820), GNPTG(84572), TPM3(7170), SMS(6611)]
ABNORMALITY OF THE STOMACH(HP:0002577)	[FBN1(2200), ERBB2(2064), ATRX(546), DDC(1644), PYCR1(5831), TBX3(6926), BRAF(673), FLNA(2316), MTM1(4534), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), MID1(4281), IKBKAP(8518), NPHS1(4868), HRAS(3265), MAPK10(5602), TREX1(11277), TYMP(1890), LAMB3(3914), SALL1(6299), LAMC2(3918), SLC2A10(81031), TSPYL1(7259), C10orf2(56652), LAMA3(3909), IRF1(3659), GIF(2694), ATP7A(538), ITGA6(3655), WHCR(7467), CD96(10225), WHSC1(7468), PIK3CA(5290), MECP2(4204), FGFR2(2263), POLG(5428), MUTYH(4595), MED12(9968), AIRE(326), APC(324), DHCR7(1717), APOA1(335), MEN1(4221), CDH1(999), PTRF(284119), PORCN(64840), KRAS(3845), NIPBL(25836), TFAP2A(7020), WNK1(65125), FAM123B(139285), MCEE(84693), CASP10(843), KLF6(1316)]
ABNORMALITY OF THE STYLOID PROCESS(HP:0004035)	[COL2A1(1280)]
ABNORMALITY OF THE SUBUNGUAL REGION(HP:0009723)	[ATP2A2(488), TSC1(7248), TSC2(7249)]
ABNORMALITY OF THE SWEAT GLANDS(HP:0000971)	[PRNP(5621), RET(5979), DDC(1644), SLURP1(57152), TBX3(6926), ERCC6(2074), EDARADD(128178), CTNS(1497), EDA(1896), ITGB4(3691), IKBKAP(8518), TTR(7276), CRLF1(9244), LAMB3(3914), GLA(2717), LAMC2(3918), KIF1B(23095), NTRK1(4914), DKC1(1736), GJB2(2706), LAMA3(3909), NFKBIA(4792), MBTPS2(51360), WNT10A(80326), LMNB1(4001), COL17A1(1308), SDHD(6392), SDHC(6391), ERCC8(1161), SDHB(6390), NGF(4803), KRT17(3872), FAM134B(54463), AAAS(8086), COL6A1(1291), COL6A2(1292), COL6A3(1293), HEXB(3074), FUCA1(2517), EDAR(10913), KRT6B(3854), HPGD(3248), CLCF1(23529), TP63(8626), VHL(7428), WNK1(65125), IGHMBP2(3508), ATP2A2(488), KRT14(3861)]
ABNORMALITY OF THE SYNOVIA(HP:0005262)	[PRG4(10216)]
ABNORMALITY OF THE TALUS BONE(HP:0008365)	[PHEX(5251)]
ABNORMALITY OF THE TARSAL BONES(HP:0001850)	[PEX19(5824), PEX5(5830), RAPSN(5913), FGFR1(2260), FBLN1(2192), MYH3(4621), NSD1(64324), LMBR1(64327), GDF5(8200), FGFR2(2263), ERCC6(2074), COL11A2(1302), ZMPSTE24(10269), FLNA(2316), FLNB(2317), NOG(9241), MATN3(4148), HOXA13(3209), SLC35D1(23169), EMG1(10436), WNT7A(7476), PEX26(55670), CANT1(124583), PHEX(5251), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), TNNI2(7136), PEX3(8504), TNNT3(7140), EIF2AK3(9451), EBP(10682), LBR(3930), MMP2(4313), DOK7(285489), CHRNG(1146), HOXD10(3236), TPM2(7169), POR(5447), COL1A2(1278), PTH1R(5745), BMPR1B(658)]
ABNORMALITY OF THE TEETH(HP:0000164)	[FBN1(2200), TINF2(26277), ATRX(546), ATR(545), CCBE1(147372), EDARADD(128178), TGFB1(7040), GLI3(2737), SLC35C1(55343), ADAMTS10(81794), PPIB(5479), UBR1(197131), BBS9(27241), GNPTAB(79158), GLB1(2720), GPC3(2719), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), RAB3GAP2(25782), GJA1(2697), CHRNE(1145), TNFRSF11A(8792), CHRNB1(1140), WNT10A(80326), MKKS(8195), GP1BA(2811), SNRPN(6638), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), BBS12(166379), FGF23(8074), FAM83H(286077), FGF10(2255), CYP27B1(1594), FGF3(2248), FGD1(2245), KCNJ2(3759), EDAR(10913), ACVR1(90), GNAS(2778), BBS1(582), FOXC1(2296), TNFRSF11B(4982), BBS2(583), BBS4(585), NIPBL(25836), BBS10(79738), KDM5C(8242), HOXD13(3239), FAM123B(139285), CTSC(1075), SMS(6611), TRIM32(22954), TBX15(6913), ARL6(84100), TBX3(6926), TCF4(6925), ERCC6(2074), BRAF(673), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), ITGB2(3689), SH3BP2(6452), MAPK10(5602), KL(9365), TCIRG1(10312), BCOR(54880), SOX18(54345), GALNS(2588), DKC1(1736), IRF6(3664), GALNT3(2591), BLM(641), MKS1(54903), DLX3(1747), AHCY(191), COL1A2(1278), RECQL4(9401), ZNF469(84627), COL1A1(1277), MSX1(4487), ITGA6(3655), GJB6(10804), WHCR(7467), INSR(3643), WHSC1(7468), SIX3(6496), ERCC8(1161), CEP290(80184), MUSK(4593), ZMPSTE24(10269), EYA1(2138), MED12(9968), DHCR24(1718), RMRP(6023), CA2(760), TRIM37(4591), DHCR7(1717), SH3PXD2B(285590), EVC(2121), NOP10(55505), SMARCAL1(50485), FRAS1(80144), SHH(6469), PCNT(5116), TERC(7012), TERT(7015), SOST(50964), ALDOB(229), SLC39A13(91252), TFAP2A(7020), ALDH3A2(224), COX4I2(84701), ATP6V0A2(23545), ALPL(249), CHST3(9469), LEPRE1(64175), BBS5(129880), CLDN1(9076), ANCR(282), NSD1(64324), VDR(7421), EDA(1896), FERMT1(55612), IKBKG(8517), ALX3(257), CDKL5(6792), AMELY(266), AMELX(265), LRP5(4041), VSX1(30813), LTBP3(4054), AP3B1(8546), CREBBP(1387), CNNM4(26504), PTHLH(5744), RAB23(51715), PTH1R(5745), SUOX(6821), MAN2B1(4125), ADAMTS2(9509), LMNA(4000), COL17A1(1308), EVC2(132884), NHP2(55651), MECP2(4204), COL11A1(1301), COL5A2(1290), AIRE(326), APC(324), COL5A1(1289), NDN(4692), COL7A1(1294), DSP(1832), DSPP(1834), UBE3A(7337), COL3A1(1281), CBS(875), TTC8(123016), ANKH(56172), TBCE(6905), VPS13B(157680), PORCN(64840), LIFR(3977), RUNX2(860), OFD1(8481), BBS7(55212), ALMS1(7840), PLOD1(5351), EP300(2033), KLK4(9622), RPS6KA3(6197), RBM28(55131), FLNA(2316), FLNB(2317), IDS(3423), LAMB3(3914), LAMC2(3918), TSC1(7248), TSC2(7249), LAMA3(3909), ENAM(10117), LBR(3930), ARX(170302), NFKBIA(4792), MBTPS2(51360), PLG(5340), CTSK(1513), PLEC(5339), MGAT2(4247), TNFSF11(8600), CTDP1(9150), TRPS1(7227), NHS(4810), CD96(10225), KRT17(3872), CDH3(1001), PTPN11(5781), FREM2(341640), PITX2(5308), KRT6B(3854), ST14(6768), PHEX(5251), STAT3(6774), TP63(8626), KRAS(3845), MMP2(4313), KRT14(3861), PVRL1(5818)]
ABNORMALITY OF THE TESTIS(HP:0000035)	[FBN1(2200), GUSB(2990), ATRX(546), BBS5(129880), PROK2(60675), ATR(545), MYH3(4621), NELF(26012), CCBE1(147372), NSD1(64324), GLRB(2743), GLRA1(2741), H19(283120), DNAJC19(131118), GLI3(2737), ESCO2(157570), KCNQ1OT1(10984), KIT(3815), STK11(6794), FANCD2(2177), FANCC(2176), GNE(10020), FANCE(2178), UBR1(197131), GNPTAB(79158), BBS9(27241), AMH(268), GLB1(2720), AMHR2(269), SALL1(6299), GPC3(2719), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), SEC23A(10484), B3GALTL(145173), PTEN(5728), ROR2(4920), DCAF17(80067), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CREBBP(1387), POR(5447), RAB23(51715), MAN2B1(4125), ADAMTS2(9509), MKKS(8195), SNRPN(6638), RAPSN(5913), ZEB2(9839), FGFR1(2260), EVC2(132884), OCRL(4952), LOX(4015), TAC3(6866), MECP2(4204), FGFR2(2263), POLG(5428), CDKN1C(1028), BBS12(166379), TACR3(6870), COL5A2(1290), SLC26A2(1836), CUL4B(8450), SOS1(6654), COL5A1(1289), NDN(4692), PHF6(84295), POLA1(5422), GPC6(10082), FGD1(2245), COL2A1(1280), CBS(875), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), CYP11B1(1584), FOXC2(2303), HPRT1(3251), LHCGR(3973), TBCE(6905), UBA1(7317), SLC39A4(55630), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), TBX1(6899), ICK(22858), BBS4(585), PORCN(64840), PEX3(8504), NIPBL(25836), BBS10(79738), TMEM70(54968), KDM5C(8242), OFD1(8481), BBS7(55212), DOK7(285489), CUL7(9820), AR(367), SMS(6611), ATPAF2(91647), CHD7(55636), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), EP300(2033), DMPK(1760), PEX2(5828), PEX5(5830), STS(412), EFEMP2(30008), TRIM32(22954), RPS6KA3(6197), ARL6(84100), TBX3(6926), BRWD3(254065), ERCC6(2074), STRA6(64220), PLOD2(5352), FLNA(2316), MTM1(4534), FLNB(2317), IDS(3423), SOX10(6663), MID1(4281), BUB1B(701), SOX2(6657), FLT4(2324), NEU1(4758), FMR1(2332), TCOF1(6949), BMP4(652), ELN(2006), AGA(175), TSPYL1(7259), SOX18(54345), GALNS(2588), DKC1(1736), IRF6(3664), BLM(641), MKS1(54903), KISS1R(84634), NR0B1(190), ARX(170302), MBTPS2(51360), COL1A2(1278), RECQL4(9401), SLC6A5(9152), COL1A1(1277), RAB3GAP1(22930), HSPG2(3339), WHCR(7467), WFS1(7466), CD96(10225), ZBTB16(7704), WHSC1(7468), INSL3(3640), ERCC8(1161), CEP290(80184), PTPN11(5781), MED12(9968), GPHN(10243), DHCR7(1717), DGCR(1714), RXFP2(122042), FBLN5(10516), FREM2(341640), WNT7A(7476), EVC(2121), HFE(3077), PHGDH(26227), FRAS1(80144), F13A1(2162), TP63(8626), FANCA(2175), FTO(79068), SEMA3E(9723), TFAP2A(7020), ATP6V0A2(23545), TPM2(7169), G6PC3(92579), LEPRE1(64175)]
ABNORMALITY OF THE THENAR EMINENCE(HP:0001227)	[FGF10(2255), HOXA13(3209), SALL4(57167), FGFR3(2261)]
ABNORMALITY OF THE THIGH(HP:0001439)	[TBX4(9496), RET(5979), VDR(7421), PLOD2(5352), FLNA(2316), FLNB(2317), MATN3(4148), IHH(3549), LBR(3930), GNPAT(8443), POR(5447), COL1A2(1278), ACAN(176), COL1A1(1277), BMPR1B(658), TRAPPC2(6399), HSPG2(3339), TRPS1(7227), COMP(1311), LMNA(4000), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), MMP13(4322), COL11A2(1302), COL11A1(1301), CYP2R1(120227), LMX1B(4010), SLC26A2(1836), CYP27B1(1594), SBDS(51119), DYM(54808), COL2A1(1280), WNT7A(7476), ACVR1(90), SMARCAL1(50485), ADAMTSL2(9719), ANKH(56172), PHEX(5251), CLCN5(1184), PCNT(5116), WISP3(8838), PLOD3(8985), SLC39A13(91252), SEMA3E(9723), SHOX(6473), RUNX2(860), TRPV4(59341), GBA(2629), SLC34A3(142680), GNPTG(84572), CHD7(55636), LEPRE1(64175)]
ABNORMALITY OF THE THORAX(HP:0000765)	[FBN1(2200), RET(5979), FBN2(2201), FKRP(79147), NPR2(4882), TGFBR2(7048), ATR(545), CCBE1(147372), TGFBR1(7046), HSD17B4(3295), GLI3(2737), SLC16A2(6567), GLE1(2733), NOG(9241), HRAS(3265), ADAMTS10(81794), PPIB(5479), MATR3(9782), GNPTAB(79158), GLB1(2720), CHRNA1(1134), GPC3(2719), DYNC2H1(79659), CRTAP(10491), B3GALTL(145173), ROR2(4920), DDR2(4921), ACOX1(51), GTF2H5(404672), FKTN(2218), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), CHRNG(1146), CHRND(1144), ATP7A(538), ACTB(60), UPF3B(65109), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), SOS1(6654), GNS(2799), CYP27B1(1594), SBDS(51119), TNFRSF1A(7132), FGD1(2245), KCNJ2(3759), CYP21A2(1589), GDF6(392255), HPGD(3248), ADA(100), TRIP11(9321), ICK(22858), TNNT1(7138), NIPBL(25836), TRPV4(59341), KDM5C(8242), HOXD13(3239), FAM123B(139285), DOK7(285489), CUL7(9820), GNPTG(84572), SMS(6611), FHL1(2273), ERCC2(2068), TBX15(6913), EFEMP2(30008), ERCC3(2071), TRIM32(22954), TBX3(6926), SGCB(6443), STRA6(64220), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), BUB1B(701), GALNS(2588), WT1(7490), MSX2(4488), C20orf54(113278), COL1A2(1278), RECQL4(9401), PDHX(8050), COL1A1(1277), JAG1(182), EXT2(2132), WHCR(7467), WHSC1(7468), EXT1(2131), PAX3(5077), ZMPSTE24(10269), EYA1(2138), MED12(9968), RMRP(6023), DYM(54808), WNT3(7473), WNT7A(7476), EVC(2121), FRAS1(80144), HGSNAT(138050), SOST(50964), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), ALPL(249), CHST3(9469), LEPRE1(64175), VCP(7415), MYOT(9499), GUSB(2990), MYH3(4621), SALL4(57167), NSD1(64324), VDR(7421), CAPN3(825), IKBKG(8517), ALX3(257), MYH7(4625), MATN3(4148), PTCH1(5727), IFT80(57560), GNE(10020), IHH(3549), CANT1(124583), BAG3(9531), SEPN1(57190), SLC2A10(81031), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), LRP5(4041), PTEN(5728), SLC17A5(26503), CREBBP(1387), NAGLU(4669), PTH1R(5745), CPT2(1376), MAN2B1(4125), TRAPPC2(6399), LMNA(4000), HCCS(3052), EVC2(132884), LOX(4015), CYP2R1(120227), LMX1B(4010), SLC26A2(1836), IGBP1(3476), IGF1R(3480), COL2A1(1280), FUCA1(2517), CBS(875), PQBP1(10084), PEX26(55670), NEB(4703), TBCE(6905), UBA1(7317), TBX5(6910), ABCC6(368), PORCN(64840), PEX3(8504), PLOD3(8985), LIFR(3977), RUNX2(860), EBP(10682), DLL3(10683), OFD1(8481), IGHMBP2(3508), GAA(2548), AR(367), CASR(846), CHD7(55636), PEX19(5824), EP300(2033), ARSB(411), PEX5(5830), SERPINF2(5345), RPS6KA3(6197), MGP(4256), FLNA(2316), PLOD2(5352), FLNB(2317), CTNS(1497), SOX10(6663), SOX9(6662), SOX2(6657), NSDHL(50814), SLC35D1(23169), ANO5(203859), FMR1(2332), LAMB1(3912), EMD(2010), LBR(3930), CTSK(1513), MGAT2(4247), HSPG2(3339), TRPS1(7227), CD96(10225), MMP13(4322), PTPN11(5781), FBLN5(10516), NME1(4830), FREM2(341640), ADAMTSL2(9719), KRAS(3845), HYLS1(219844), EFNB1(1947), SEMA3E(9723), MMP2(4313), SLC34A3(142680), TPM2(7169), RPS19(6223), TPM3(7170)]
ABNORMALITY OF THE THUMB(HP:0001172)	[FBN2(2201), EP300(2033), MYH3(4621), SALL4(57167), NSD1(64324), LMBR1(64327), MGP(4256), FLNA(2316), GLI3(2737), FLNB(2317), ESCO2(157570), NOG(9241), CRLF1(9244), FANCD2(2177), FANCC(2176), IHH(3549), FANCE(2178), CANT1(124583), BMP4(652), SALL1(6299), AP4M1(9179), GPC3(2719), B3GALTL(145173), PTEN(5728), ROR2(4920), SLC9A6(10479), CREBBP(1387), RECQL4(9401), RAB23(51715), MGAT2(4247), ZBTB16(7704), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), SLC26A2(1836), MED12(9968), FGF10(2255), DHCR7(1717), L1CAM(3897), HOXA13(3209), COL2A1(1280), FREM2(341640), PHGDH(26227), ACVR1(90), FRAS1(80144), ALG3(10195), PCNT(5116), TBX5(6910), FANCA(2175), CHST14(113189), HYLS1(219844), SEMA3E(9723), NIPBL(25836), TFAP2A(7020), LIFR(3977), OFD1(8481), HOXD13(3239), TPM2(7169), RPS19(6223), CHD7(55636)]
ABNORMALITY OF THE THYMUS(HP:0000777)	[FRAS1(80144), ABCD3(5825), AK2(204), ADA(100), PEX2(5828), ATM(472), DCLRE1C(64421), TBX1(6899), IL2RG(3561), DGCR(1714), RAG2(5897), RAG1(5896), FREM2(341640)]
ABNORMALITY OF THE THYROID GLAND(HP:0000820)	[RET(5979), FOXE1(2304), TRIM24(8805), CCBE1(147372), GATA1(2623), HSD17B3(3293), NRAS(4893), GLI3(2737), CTNS(1497), PROP1(5626), DCR(1637), TRIM33(51592), SLC16A2(6567), IYD(389434), FOXP3(50943), TTR(7276), THRB(7068), NPHS1(4868), CCDC6(8030), THRA(7067), NCOA4(8031), DUOX2(50506), NSDHL(50814), PMM2(5373), UBR1(197131), NKX2-5(1482), BMP4(652), SALL1(6299), NKX2-1(7080), DIO1(1733), NTRK1(4914), TSHB(7252), TSHR(7253), SLC5A5(6528), PTEN(5728), TSC1(7248), TSC2(7249), KISS1R(84634), PRKAR1A(5573), POU1F1(5449), JAG1(182), WFS1(7466), LHX4(89884), MINPP1(9562), APOE(348), CDC73(79577), EYA1(2138), APC(324), DGCR(1714), MEN1(4221), TRH(7200), SLC26A4(5172), GNAS(2778), TBX1(6899), PCM1(5108), DUOXA2(405753), ALMS1(7840), TPO(7173), GOLGA5(9950), TG(7038), PAX8(7849)]
ABNORMALITY OF THE TIBIA(HP:0002992)	[CLCN5(1184), PHEX(5251), PCNT(5116), LMBR1(64327), VDR(7421), GDF5(8200), HYLS1(219844), MMP13(4322), COL11A1(1301), FLNA(2316), CYP2R1(120227), SHOX(6473), LIFR(3977), FLNB(2317), SOX9(6662), CYP27B1(1594), NF1(4763), SLC34A3(142680), GPC6(10082), IHH(3549), COL1A1(1277), LEPRE1(64175)]
ABNORMALITY OF THE TOENAILS(HP:0008388)	[LBR(3930), NOG(9241), RAB3GAP2(25782), FGFR1(2260), PORCN(64840), GDF5(8200), CPT2(1376)]
ABNORMALITY OF THE TOES(HP:0001780)	[MYCN(4613), FBN1(2200), TBX4(9496), NPR2(4882), BBS5(129880), SACS(26278), ATR(545), MYH3(4621), SALL4(57167), FBLN1(2192), NSD1(64324), LMBR1(64327), HSD17B4(3295), GLI3(2737), SLC16A2(6567), NOG(9241), MYH8(4626), RAB7A(7879), RPGRIP1L(23322), GNE(10020), IHH(3549), BBS9(27241), SC5DL(6309), CANT1(124583), SBF2(81846), SALL1(6299), GPC3(2719), NOD2(64127), KIF1B(23095), ROR2(4920), RAB3GAP2(25782), MPZ(4359), GJA1(2697), CREBBP(1387), RAB23(51715), ADAMTS2(9509), MKKS(8195), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), BBS12(166379), SLC26A2(1836), FGF10(2255), DSP(1832), PHF6(84295), HOXA13(3209), KCNJ2(3759), COL2A1(1280), TTC8(123016), ACVR1(90), BSCL2(26580), GNAS(2778), BBS1(582), BBS2(583), PORCN(64840), BBS4(585), NIPBL(25836), LIFR(3977), BBS10(79738), OFD1(8481), HOXD13(3239), BBS7(55212), FAM123B(139285), PMP22(5376), SMS(6611), EP300(2033), TWIST1(7291), TRIM32(22954), TBX15(6913), NEFL(4747), ARL6(84100), TBX3(6926), MGP(4256), GARS(2617), FLNA(2316), FLNB(2317), BMP4(652), BCOR(54880), PRX(57716), MKS1(54903), LBR(3930), ARX(170302), BMPR1B(658), HSPG2(3339), MBD5(55777), WHCR(7467), CD96(10225), WHSC1(7468), CEP290(80184), MED12(9968), RMRP(6023), EGR2(1959), DHCR7(1717), WNT7A(7476), EVC(2121), MFN2(9927), TP63(8626), HYLS1(219844), EFNB1(1947), SUMF1(285362), PVRL1(5818)]
ABNORMALITY OF THE TONGUE(HP:0000157)	[SH3TC2(79628), PEX19(5824), ARSB(411), FKRP(79147), ATRX(546), TBX15(6913), PEX5(5830), MYH3(4621), GATA1(2623), ANCR(282), NSD1(64324), H19(283120), SLC6A19(340024), GLI3(2737), DCR(1637), IDS(3423), KCNQ1OT1(10984), IKBKAP(8518), CDKL5(6792), HRAS(3265), ALS2(57679), ENG(2022), GNPTAB(79158), DNMT3B(1789), BMP4(652), GPC3(2719), AGA(175), PEX10(5192), PEX14(5195), PEX13(5194), TSPYL1(7259), TSHB(7252), PEX1(5189), SLC5A5(6528), PTEN(5728), ROR2(4920), GJB2(2706), MKS1(54903), POU1F1(5449), C20orf54(113278), WNT10A(80326), MAN2B1(4125), EHMT1(79813), INPP5E(56623), MECP2(4204), CDKN1C(1028), LMBRD1(55788), TRIM37(4591), HEXB(3074), FUCA1(2517), FREM2(341640), UBE3A(7337), ACVRL1(94), PEX26(55670), SMN1(6606), FRAS1(80144), FTO(79068), PEX3(8504), LIFR(3977), WNK1(65125), OFD1(8481), TBX22(50945), KDM5C(8242), GAA(2548), PAX8(7849)]
ABNORMALITY OF THE TRACHEA(HP:0002778)	[ADAMTSL2(9719), FGFR1(2260), HYLS1(219844), FGFR2(2263), DDR2(4921), FLNB(2317), EBP(10682), SLC26A2(1836), IDS(3423), LBR(3930), RAB3GAP2(25782), SOX9(6662), HRAS(3265), GJA1(2697), FAM123B(139285), COL2A1(1280)]
ABNORMALITY OF THE TRACHEOBRONCHIAL SYSTEM(HP:0005607)	[DNAI1(27019), ATM(472), FGFR1(2260), TNFRSF13B(23495), NBN(4683), FGFR2(2263), FLNB(2317), IDS(3423), SLC26A2(1836), COL4A6(1288), SOX9(6662), HRAS(3265), COL2A1(1280), DNMT3B(1789), ADAMTSL2(9719), CD8A(925), DNAH11(8701), HYLS1(219844), BLM(641), DDR2(4921), EBP(10682), TAP1(6890), LBR(3930), TAP2(6891), RAB3GAP2(25782), CFTR(1080), GJA1(2697), FAM123B(139285), TAPBP(6892), SCNN1G(6340), POR(5447), ICOS(29851), SCNN1A(6337), SCNN1B(6338)]
ABNORMALITY OF THE TRICUSPID VALVE(HP:0001702)	[FBN1(2200), ADAMTSL2(9719), FLNA(2316)]
ABNORMALITY OF THE ULNA(HP:0002997)	[ZBTB16(7704), SALL4(57167), FGFR1(2260), TBX3(6926), FGFR3(2261), GDF5(8200), LMBR1(64327), FGFR2(2263), MMP13(4322), FLNA(2316), COL11A1(1301), FLNB(2317), B2M(567), FGF10(2255), HOXA11(3207), COL2A1(1280), IHH(3549), WNT7A(7476), PCNT(5116), SEMA3E(9723), SHOX(6473), RAB3GAP2(25782), POR(5447), RECQL4(9401), JAG1(182), BMPR1B(658), CHD7(55636)]
ABNORMALITY OF THE UMBILICUS(HP:0001551)	[FBN1(2200), ARSB(411), GUSB(2990), ATRX(546), EFEMP2(30008), CCBE1(147372), GLRB(2743), NSD1(64324), GLRA1(2741), GLI3(2737), IDS(3423), GNPTAB(79158), SALL1(6299), GPC3(2719), SLC2A10(81031), LRP2(4036), TSHB(7252), SLC5A5(6528), B3GALTL(145173), ROR2(4920), LBR(3930), CHRNG(1146), SLC6A5(9152), RAB23(51715), COL1A1(1277), ADAMTS2(9509), HSPG2(3339), LOX(4015), COL5A2(1290), MED12(9968), SLC26A2(1836), GPHN(10243), COL5A1(1289), DGCR(1714), FBLN5(10516), GPC6(10082), FGD1(2245), COL2A1(1280), FREM2(341640), BSCL2(26580), PTRF(284119), FRAS1(80144), TBX1(6899), PORCN(64840), FTO(79068), NIPBL(25836), EFNB1(1947), SEMA3E(9723), AGPAT2(10555), CHD7(55636), PAX8(7849)]
ABNORMALITY OF THE UPPER ARM(HP:0001454)	[FGFR1(2260), SALL4(57167), TBX3(6926), LMBR1(64327), GDF5(8200), FGFR2(2263), FLNA(2316), LMX1B(4010), FLNB(2317), TRPV4(59341), NOG(9241), GNPAT(8443), DYM(54808), POR(5447), GPC6(10082), RECQL4(9401), CHST3(9469), IHH(3549), GNPTAB(79158), ATP7A(538)]
ABNORMALITY OF THE UPPER LIMBS(HP:0002817)	[FBN1(2200), FKRP(79147), FBN2(2201), ATRX(546), NPR2(4882), TGFBR2(7048), ATR(545), SACS(26278), FBLN1(2192), CCBE1(147372), TGFBR1(7046), HSD17B4(3295), DCTN1(1639), H19(283120), DPM1(8813), DCR(1637), GLI3(2737), B2M(567), ABCA1(19), NOG(9241), KIT(3815), HRAS(3265), HESX1(8820), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), MATR3(9782), FANCE(2178), EMG1(10436), UBR1(197131), GNPTAB(79158), BBS9(27241), GLB1(2720), SBF2(81846), GLA(2717), NOD2(64127), GPC3(2719), HSPB1(3315), NTRK1(4914), B3GALTL(145173), ROR2(4920), DDR2(4921), GJB2(2706), SLC29A3(55315), SLC9A6(10479), RAB3GAP2(25782), MPZ(4359), GJA1(2697), CHRNG(1146), POR(5447), ATP7A(538), KCNJ11(3767), MKKS(8195), SNRPN(6638), UPF3B(65109), RAPSN(5913), NDRG1(10397), FGFR1(2260), FGFR3(2261), OCRL(4952), GDF5(8200), CDKN1B(1027), FGFR2(2263), BBS12(166379), FAM134B(54463), FGF10(2255), SOS1(6654), CYP27B1(1594), HOXA11(3207), CECR(1055), TUBB3(10381), KCNJ2(3759), HOXA13(3209), FGD1(2245), ACVRL1(94), ACVR1(90), GNAS(2778), HPGD(3248), TRIP11(9321), SFTPA2(729238), BBS1(582), BBS2(583), TNNI2(7136), ICK(22858), BBS4(585), KCNA1(3736), TNNT3(7140), NIPBL(25836), WNK1(65125), TRPV4(59341), BBS10(79738), ZFPM2(23414), KDM5C(8242), FAM123B(139285), HOXD13(3239), DOK7(285489), CUL7(9820), GNPTG(84572), CTSC(1075), PMP22(5376), SMS(6611), FHL1(2273), ABCA12(26154), TRIM32(22954), TBX15(6913), SFTPB(6439), CCT5(22948), GATA1(2623), ARL6(84100), SFTPC(6440), TBX3(6926), SGCB(6443), TCF4(6925), ERCC6(2074), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), ALS2(57679), TREX1(11277), BMP4(652), GALNS(2588), BLM(641), PRX(57716), MKS1(54903), PRKAR1A(5573), MIPOL1(145282), GNPAT(8443), C20orf54(113278), RECQL4(9401), KIAA1279(26128), JAG1(182), BMPR1A(657), CNTN1(1272), BMPR1B(658), GJB6(10804), EXT2(2132), WHCR(7467), WFS1(7466), INSR(3643), EHMT1(79813), WHSC1(7468), GGCX(2677), EXT1(2131), ERCC8(1161), CEP290(80184), ZMPSTE24(10269), PAX3(5077), EYA1(2138), INS(3630), DHCR24(1718), WNT10B(7480), MED12(9968), RMRP(6023), GDF1(2657), DHCR7(1717), DYM(54808), GDAP1(54332), WNT7A(7476), EVC(2121), PHGDH(26227), FRAS1(80144), CLCN5(1184), GCK(2645), CLCF1(23529), PCNT(5116), SHFM1(7979), SOST(50964), FANCA(2175), WISP3(8838), CHST14(113189), TFAP2B(7021), SLC39A13(91252), TFAP2A(7020), EIF2AK3(9451), SHOX(6473), ALDH3A2(224), ATP6V0A2(23545), CHST3(9469), LEPRE1(64175), VCP(7415), MYCN(4613), MYOT(9499), GUSB(2990), BBS5(129880), SALL4(57167), MYH3(4621), NSD1(64324), VDR(7421), LMBR1(64327), CAPN3(825), ESCO2(157570), ALX3(257), CDKL5(6792), MYH7(4625), MATN3(4148), STK11(6794), PTCH1(5727), SMAD4(4089), IFT80(57560), IHH(3549), SC5DL(6309), CANT1(124583), SALL1(6299), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), AIP(9049), LRP5(4041), GNASAS(149775), PTEN(5728), UROS(7390), ABCC8(6833), CREBBP(1387), SIL1(64374), PTHLH(5744), SLC12A6(9990), RAB23(51715), PTH1R(5745), CPT2(1376), ADAMTS2(9509), COMP(1311), LMNA(4000), COL17A1(1308), COL9A3(1299), EVC2(132884), COL9A2(1298), INPP5E(56623), COL11A2(1302), COL11A1(1301), CYP2R1(120227), LMX1B(4010), PDGFRA(5156), SLC26A2(1836), COL6A1(1291), NDN(4692), PHF6(84295), COL7A1(1294), DSP(1832), IGF1(3479), COL6A2(1292), TREM2(54209), COL6A3(1293), GPC6(10082), COL2A1(1280), IGF1R(3480), MEN1(4221), CBS(875), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), TBCE(6905), VPS13B(157680), TBX5(6910), TBX1(6899), PORCN(64840), PEX3(8504), PLOD3(8985), LIFR(3977), RUNX2(860), EBP(10682), DPYS(1807), OFD1(8481), IGHMBP2(3508), BBS7(55212), ALMS1(7840), MOGS(7841), DPAGT1(1798), TYROBP(7305), CHD7(55636), HSD17B10(3028), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), EP300(2033), PEX2(5828), ARSE(415), TWIST1(7291), LARGE(9215), PEX5(5830), NEFL(4747), RPS6KA3(6197), MGP(4256), RBM28(55131), FLNA(2316), FLNB(2317), IDS(3423), SOX9(6662), ENG(2022), SLC35D1(23169), ANO5(203859), NKX2-5(1482), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), AP4M1(9179), LAMC2(3918), EMD(2010), LAMA3(3909), LBR(3930), ARX(170302), STX16(8675), CTSK(1513), MGAT2(4247), CTDP1(9150), HSPG2(3339), TRPS1(7227), NHS(4810), CD96(10225), ZBTB16(7704), NGF(4803), MMP13(4322), CDH3(1001), PTPN11(5781), EGR2(1959), L1CAM(3897), PRG4(10216), FREM2(341640), ADAMTSL2(9719), ALG3(10195), TP63(8626), KRAS(3845), HYLS1(219844), SEMA3E(9723), EFNB1(1947), SUMF1(285362), SSTR5(6755), MMP2(4313), ATP2A2(488), SLC34A3(142680), AGPAT2(10555), TPM2(7169), RPS19(6223)]
ABNORMALITY OF THE URETERS(HP:0000069)	[MKKS(8195), CD96(10225), WFS1(7466), ATRX(546), SALL4(57167), CCBE1(147372), H19(283120), FLNA(2316), ZMPSTE24(10269), EYA1(2138), PAX2(5076), HNF1B(6928), STK11(6794), FANCD2(2177), HOXA13(3209), FANCC(2176), NPHP3(27031), FANCE(2178), SALL1(6299), FANCA(2175), TP63(8626), PORCN(64840), B3GALTL(145173), NIPBL(25836), MKS1(54903), HOXD13(3239), APRT(353), RAB23(51715), MNX1(3110), CPT2(1376), ATP7A(538)]
ABNORMALITY OF THE URETHRA(HP:0000795)	[SALL1(6299), DKC1(1736), WNT3(7473), H19(283120), PLEC(5339), GLI3(2737)]
ABNORMALITY OF THE URINARY TRACT(HP:0000079)	[PLCE1(51196), SLC34A1(6569), FKRP(79147), RET(5979), AUH(549), ATRX(546), VPS33B(26276), SACS(26278), CCBE1(147372), HSD17B4(3295), NRAS(4893), AVPR2(554), H19(283120), REEP1(65055), ACE(1636), REN(5972), GLI3(2737), FAH(2184), KCNQ1OT1(10984), NPHS1(4868), HRAS(3265), NPHP1(4867), COQ2(27235), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GLB1(2720), GLA(2717), GPC3(2719), DYNC2H1(79659), KIF5A(3798), CRTAP(10491), MRPS22(56945), ATP6V1B1(525), B3GALTL(145173), ROR2(4920), RFX5(5993), FKTN(2218), SLC9A6(10479), RFXAP(5994), SLC12A3(6559), SLC12A1(6557), VANGL1(81839), POR(5447), ATP7B(540), PROKR2(128674), DBH(1621), AXIN2(8313), ATP7A(538), KCNJ10(3766), NPHP4(261734), CYP11A1(1583), MKKS(8195), FH(2271), FGFR1(2260), FGFR3(2261), OCRL(4952), BCS1L(617), CDKN1B(1027), FGFR2(2263), FGF23(8074), CDKN1C(1028), BBS12(166379), CDKN2A(1029), FAM134B(54463), FGF10(2255), ATXN10(25814), CECR(1055), SBDS(51119), HOXA13(3209), KCNJ1(3758), CYP21A2(1589), DTNBP1(84062), FGA(2243), CYP11B2(1585), CYP11B1(1584), HPRT1(3251), ADA(100), KAL1(3730), SMCR(6600), BBS1(582), BBS2(583), BBS4(585), HPS1(3257), NIPBL(25836), BBS10(79738), CCND1(595), FAM123B(139285), HOXD13(3239), FASTKD2(22868), OGG1(4968), TP53(7157), AMN(81693), ERBB3(2065), PRNP(5621), TBXAS1(6916), ATL1(51062), EFEMP2(30008), SFTPB(6439), TBX15(6913), TRIM32(22954), HNF1A(6927), ARL6(84100), SFTPC(6440), PRPS1(5631), STRA6(64220), ERCC6(2074), BRCA2(675), PRODH(5625), KIAA0196(9897), BRAF(673), MAP2K1(5604), MAP2K2(5605), BUB1B(701), TMEM67(91147), BLOC1S3(388552), HMBS(3145), HNF1B(6928), KL(9365), ALS2(57679), CUBN(8029), BTK(695), SLC9A3R1(9368), BMP4(652), PRKCSH(5589), SPG11(80208), XDH(7498), GRHPR(9380), AFP(174), DKC1(1736), GALNT3(2591), WT2(7491), ETFDH(2110), WT1(7490), ETFB(2109), ETFA(2108), MKS1(54903), AGTR1(185), NR0B1(190), SLC22A12(116085), AGXT(189), RECQL4(9401), JAG1(182), AGT(183), HPS6(79803), POMT2(29954), ZFYVE26(23503), AKT1(207), WFS1(7466), FLCN(201163), INSL3(3640), ERCC8(1161), CEP290(80184), CYP7B1(9420), ZMPSTE24(10269), MUT(4594), EYA1(2138), PAX2(5076), HGD(3081), GPHN(10243), TRIM37(4591), SLC3A1(6519), DHCR7(1717), DGCR(1714), RXFP2(122042), SLC17A3(10786), AHI1(54806), SLC2A2(6514), SLC5A2(6524), WNT3(7473), HEXB(3074), PRCC(5546), ABCD1(215), CFH(3075), SLC4A1(6521), EVC(2121), CLCNKA(1187), SMARCAL1(50485), FRAS1(80144), C1R(715), COQ9(57017), SHH(6469), CLCN5(1184), CLCNKB(1188), C3(718), PCK1(5105), FANCA(2175), ALDOB(229), SI(6476), PCK2(5106), TFAP2A(7020), EIF2AK3(9451), VHL(7428), GATA3(2625), WAS(7454), ALPL(249), GBE1(2632), C4A(720), APTX(54840), PC(5091), MNX1(3110), CABC1(56997), PGK1(5230), CLDN19(149461), LYZ(4069), BBS5(129880), PGAM2(5224), SALL4(57167), HPS5(11234), NSD1(64324), SLC6A19(340024), RNF139(11236), AMBP(259), ESCO2(157570), IKBKAP(8518), SLC7A7(9056), STK11(6794), MYH9(4627), ATXN1(6310), ATXN2(6311), SC5DL(6309), UQCRB(7381), UPK3A(7380), NIPA1(123606), SALL1(6299), TMEM216(51259), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), AIP(9049), PEX7(5191), PTEN(5728), UPB1(51733), SLC17A5(26503), SEC63(11231), UMPS(7372), RAI1(10743), PTH1R(5745), RAB23(51715), CPT2(1376), UMOD(7369), SLC6A20(54716), LMNB1(4001), NPHS2(7827), SDHD(6392), SDHB(6390), EVC2(132884), INPP5E(56623), NBN(4683), LOX(4015), HBB(3043), PDGFRL(5157), LMX1B(4010), PRPS2(5634), PSAP(5660), PDSS2(57107), COL4A6(1288), APC(324), MEFV(4210), PRTN3(5657), BSND(7809), TREM2(54209), APOA1(335), PDSS1(23590), COL2A1(1280), COL3A1(1281), COL4A4(1286), COL4A5(1287), PQBP1(10084), PEX26(55670), TTC8(123016), COL4A3(1285), LMNB2(84823), TBCE(6905), SLC37A4(2542), ABCC6(368), COX6B1(1340), G6PC(2538), HPS3(84343), TBP(6908), TBX1(6899), PORCN(64840), PEX3(8504), SLC7A9(11136), EBP(10682), AQP2(359), OFD1(8481), PANK2(80025), IGHMBP2(3508), CLDN16(10686), BBS7(55212), APRT(353), ALMS1(7840), SCNN1G(6340), CASP10(843), TYROBP(7305), CASR(846), SCNN1A(6337), CHD7(55636), SCNN1B(6338), PEX19(5824), ARSA(410), ABCD3(5825), PLOD1(5351), EP300(2033), SLC4A4(8671), PEX2(5828), DIRC2(84925), LARGE(9215), PEX5(5830), SCARB2(950), LDHA(3939), SPG7(6687), PYGM(5837), FLNA(2316), FLNB(2317), CIITA(4261), SPAST(6683), CTNS(1497), TTR(7276), SOX9(6662), ATXN3(4287), NF1(4763), UQCRQ(27089), NSDHL(50814), PMM2(5373), NEU1(4758), FN1(2335), POMT1(10585), SLC36A2(153201), LPIN1(23175), LAMB2(3913), PKHD1(5314), IQCB1(9657), TSC1(7248), TSC2(7249), CFI(3426), LCAT(3931), INVS(27130), ASAH1(427), ARX(170302), ADAMTS13(11093), MBTPS2(51360), PLG(5340), PLEC(5339), CD96(10225), PIK3CA(5290), HSPD1(3329), CDC73(79577), PTPN11(5781), PINK1(65018), FBLN5(10516), GSN(2934), MLH3(27030), NPHP3(27031), FREM2(341640), PKD2(5311), MOCS2(4338), PKD1(5310), MOCS1(4337), STAR(6770), CHMP2B(25978), PHEX(5251), PTPRJ(5795), NLRP3(114548), TP63(8626), KRAS(3845), RFXANK(8625), HYLS1(219844), SEMA3E(9723), MMACHC(25974), PHYH(5264), SLC34A3(142680), PNP(4860), HPS4(89781), FXYD2(486), NOTCH3(4854)]
ABNORMALITY OF THE UTERUS(HP:0000130)	[SRY(6736), RET(5979), WHCR(7467), FH(2271), WHSC1(7468), HCCS(3052), RPS6KA3(6197), STRA6(64220), ESCO2(157570), DHCR7(1717), HNF1B(6928), FREM2(341640), COL3A1(1281), WNT7A(7476), CYP11B1(1584), UPK3A(7380), FRAS1(80144), FOXC2(2303), SALL1(6299), LRP2(4036), IRF6(3664), B3GALTL(145173), HYLS1(219844), DCAF17(80067), MKS1(54903), DHH(50846), WNT4(54361), AR(367), MNX1(3110), BMPR1B(658)]
ABNORMALITY OF THE UVEA(HP:0000553)	[FBN1(2200), FKRP(79147), FBN2(2201), SALL4(57167), HPS5(11234), ANCR(282), EDN3(1908), DCR(1637), EDNRB(1910), IKBKG(8517), CDKL5(6792), SNAI2(6591), STIM1(6786), SALL1(6299), CRX(1406), NOD2(64127), TMEM216(51259), LYST(1130), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), MYOC(4653), LRP5(4041), B3GALTL(145173), CHML(1122), CHM(1121), FKTN(2218), GJA8(2703), GJA1(2697), AP3B1(8546), CREBBP(1387), HCCS(3052), CYP4V2(285440), ZEB2(9839), INPP5E(56623), MECP2(4204), LMX1B(4010), NDP(4693), RAG2(5897), UROC1(131669), IGBP1(3476), CECR(1055), RAG1(5896), COL4A1(1282), UBE3A(7337), OAT(4942), DTNBP1(84062), PEX26(55670), RBP4(5950), FOXE3(2301), VPS13B(157680), CYP1B1(1545), FOXC1(2296), HPS3(84343), PORCN(64840), HPS1(3257), PEX3(8504), TYR(7299), CRB1(23418), CHD7(55636), PEX19(5824), SLC25A15(10166), EP300(2033), ABCD3(5825), RPGR(6103), PEX2(5828), LARGE(9215), RP2(6102), PEX5(5830), GATA1(2623), ERCC6(2074), SOX10(6663), BLOC1S3(388552), MITF(4286), NF1(4763), POMT1(10585), PAH(5053), LAMB2(3913), MKS1(54903), JAG1(182), HPS6(79803), POMT2(29954), WHCR(7467), PAX6(5080), WHSC1(7468), PAX3(5077), MED12(9968), RS1(6247), TRIM37(4591), TEAD1(7003), PITX2(5308), SHH(6469), ALG3(10195), BEST1(7439), VCAN(1462), CLCNKB(1188), TP63(8626), TFAP2A(7020), SEMA3E(9723), HPS4(89781)]
ABNORMALITY OF THE UVULA(HP:0000172)	[FOXC2(2303), BMP4(652), TBCE(6905), ALG3(10195), SIX3(6496), HYAL1(3373), TGFBR2(7048), BCOR(54880), TBX1(6899), TP63(8626), TGFBR1(7046), IRF6(3664), FTO(79068), FGFR2(2263), ROR2(4920), SLC39A13(91252), COL11A1(1301), B4GALT7(11285), EYA1(2138), TBX22(50945), DGCR(1714), FAM123B(139285), RECQL4(9401), SMS(6611)]
ABNORMALITY OF THE VAGINA(HP:0000142)	[RET(5979), MKKS(8195), BBS5(129880), TRIM32(22954), FGFR1(2260), SALL4(57167), ARL6(84100), FGFR2(2263), CEP290(80184), BBS12(166379), PAX3(5077), DHCR7(1717), HOXA13(3209), WNT3(7473), FREM2(341640), UBR1(197131), BBS9(27241), TTC8(123016), CYP11B1(1584), UPK3A(7380), FRAS1(80144), SALL1(6299), BBS1(582), BCOR(54880), BBS2(583), TP63(8626), IRF6(3664), BBS4(585), HYLS1(219844), BBS10(79738), MKS1(54903), BBS7(55212), POR(5447), WNT4(54361), RECQL4(9401), MNX1(3110)]
ABNORMALITY OF THE VASCULATURE(HP:0002597)	[FBN1(2200), FBN2(2201), RET(5979), TGFBR2(7048), TGFBR1(7046), GLI3(2737), MYH11(4629), ABCA1(19), MYH9(4627), SMAD4(4089), HRG(3273), SMAD9(4093), GLB1(2720), GLA(2717), PPARG(5468), SLC2A10(81031), KIF1B(23095), CRTAP(10491), GJA5(2702), GJA1(2697), KCNQ1(3784), ATP7A(538), PRSS1(5644), ENPP1(5167), SERPIND1(3053), HCCS(3052), LMNA(4000), APOB(338), ZEB2(9839), SDHD(6392), APOA2(336), APP(351), SDHB(6390), LOX(4015), APOE(348), FGFR2(2263), FGF23(8074), PDGFRA(5156), COL5A2(1290), COL5A1(1289), LPL(4023), PRTN3(5657), CECR(1055), CYP27A1(1593), GPC6(10082), COL4A1(1282), APOA1(335), ACVRL1(94), COL3A1(1281), CBS(875), FOXC2(2303), SLC37A4(2542), ABCC6(368), SFTPA2(729238), FOXF1(2294), TBX1(6899), PLOD3(8985), LIFR(3977), JAK2(3717), LIPC(3990), LIPA(3988), FAS(355), GAA(2548), CASP10(843), PIGM(93183), LDLR(3949), SFTPB(6439), EFEMP2(30008), MGP(4256), STRA6(64220), PROC(5624), FLNA(2316), PROS1(5627), FLNB(2317), TTR(7276), NF1(4763), TREX1(11277), KL(9365), ENG(2022), PKP2(5318), ELN(2006), ABCG8(64241), ABCG5(64240), TSPYL1(7259), GALNT3(2591), PLAT(5327), CFI(3426), MKS1(54903), SPINK1(6690), DOCK8(81704), AGXT(189), CRELD1(78987), COL1A2(1278), COL1A1(1277), JAG1(182), BMPR2(659), RYR2(6262), MED12(9968), PTPN11(5781), MPI(4351), DHCR24(1718), SERPINC1(462), HGD(3081), DHCR7(1717), DGCR(1714), FBLN5(10516), PRPF3(9129), SLC17A3(10786), WNT3(7473), CFH(3075), PKD2(5311), PKD1(5310), SMARCAL1(50485), BEST1(7439), PCNT(5116), MMACHC(25974), VHL(7428), PPP1R3A(5506), WAS(7454), ATP6V0A2(23545), GBA(2629), PNP(4860), C4A(720), RPS19(6223), NOTCH3(4854)]
ABNORMALITY OF THE VASCULATURE OF THE CONJUNCTIVA(HP:0008054)	[ATM(472), ENG(2022), SETX(23064), CTSA(5476), FUCA1(2517), ACVRL1(94), MANBA(4126)]
ABNORMALITY OF THE VASCULATURE OF THE EYE(HP:0008047)	[BEST1(7439), PTGS1(5742), ABCC6(368), ATM(472), CLCNKB(1188), SETX(23064), KRIT1(889), FZD4(8322), LRP5(4041), IKBKG(8517), PRPF3(9129), TREX1(11277), ENG(2022), COL4A1(1282), CTSA(5476), FUCA1(2517), ACVRL1(94), MANBA(4126)]
ABNORMALITY OF THE VENTRICULAR SEPTUM(HP:0010438)	[ERBB3(2065), FBN1(2200), PEX19(5824), FBN2(2201), EP300(2033), ATRX(546), VPS33B(26276), PEX5(5830), CCBE1(147372), SALL4(57167), NSD1(64324), MGP(4256), STRA6(64220), GLI3(2737), FLNB(2317), ESCO2(157570), SOX2(6657), HRAS(3265), ADAMTS10(81794), ZIC3(7547), UBR1(197131), GLA(2717), SALL1(6299), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), BCOR(54880), PEX1(5189), LRP5(4041), B3GALTL(145173), ROR2(4920), SLC29A3(55315), LBR(3930), GJA1(2697), CREBBP(1387), CRELD1(78987), RAB23(51715), JAG1(182), MGAT2(4247), WHCR(7467), CD96(10225), WHSC1(7468), HCCS(3052), ZEB2(9839), FGFR2(2263), MED12(9968), PTPN11(5781), DHCR7(1717), SOS1(6654), DGCR(1714), GPC6(10082), PQBP1(10084), PEX26(55670), SMN1(6606), FOXC2(2303), TBX5(6910), TBX1(6899), TP63(8626), FTO(79068), PEX3(8504), HYLS1(219844), NODAL(4838), NIPBL(25836), SEMA3E(9723), HOXD13(3239), FAM123B(139285), CHST3(9469), RPS19(6223), CHD7(55636)]
ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925)	[SH3TC2(79628), FBN1(2200), RET(5979), FBN2(2201), FKRP(79147), HIBCH(26275), ATRX(546), NPR2(4882), TGFBR2(7048), ATR(545), CCBE1(147372), TGFBR1(7046), TGFB1(7040), GLI3(2737), SLC16A2(6567), DCR(1637), GLE1(2733), NOG(9241), HRAS(3265), ADAMTS10(81794), CRLF1(9244), PPIB(5479), GNPTAB(79158), GLB1(2720), SBF2(81846), CHRNA1(1134), COLQ(8292), ACADS(35), GPC3(2719), KIF5A(3798), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), DDR2(4921), RAB3GAP2(25782), MPZ(4359), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), VANGL1(81839), ACTA1(58), TNFRSF11A(8792), ATP7A(538), ACTB(60), SNRPN(6638), UPF3B(65109), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), SOS1(6654), GNS(2799), HSPB8(26353), SBDS(51119), FGD1(2245), KCNJ2(3759), GDF6(392255), ACVR1(90), PTRF(284119), FOXC2(2303), ADA(100), GNAS(2778), TRIP11(9321), SMCR(6600), TNNI2(7136), TNNT3(7140), NIPBL(25836), TRPV4(59341), FAM123B(139285), HOXD13(3239), DOK7(285489), CUL7(9820), GNPTG(84572), PMP22(5376), SMS(6611), FHL1(2273), ATL1(51062), TBX15(6913), GATA1(2623), SGCB(6443), ROBO3(64221), SGCA(6442), ERCC6(2074), SGCG(6445), GARS(2617), SGSH(6448), BUB1B(701), FAM126A(84668), ALS2(57679), LHX3(8022), TCIRG1(10312), BMP4(652), PRKCSH(5589), AGA(175), AFP(174), GALNS(2588), MTMR2(8898), FGD4(121512), PRX(57716), MKS1(54903), PRKAR1A(5573), GNPAT(8443), C20orf54(113278), COL1A2(1278), RECQL4(9401), ZNF469(84627), ACAN(176), COL1A1(1277), KIAA1279(26128), DMD(1756), JAG1(182), RAB3GAP1(22930), GAD1(2571), WHCR(7467), SQSTM1(8878), WHSC1(7468), SIX3(6496), ERCC8(1161), PAX3(5077), ZMPSTE24(10269), MED12(9968), RMRP(6023), HGD(3081), DGCR(1714), DYM(54808), SH3PXD2B(285590), GDAP1(54332), SMARCAL1(50485), CLCN7(1186), HGSNAT(138050), MFN2(9927), CLCF1(23529), SOST(50964), WISP3(8838), SLC39A13(91252), TFAP2A(7020), ALDOA(226), EIF2AK3(9451), SHOX(6473), ALDH3A2(224), ATP6V0A2(23545), GBA(2629), GORAB(92344), ALPL(249), CHST3(9469), APTX(54840), MNX1(3110), LEPRE1(64175), VCP(7415), BIN1(274), GUSB(2990), SETX(23064), SALL4(57167), MYH3(4621), NSD1(64324), ANCR(282), MAPT(4137), IKBKG(8517), ESCO2(157570), IKBKAP(8518), PDE11A(50940), CDKL5(6792), MATN3(4148), PAPSS2(9060), PTCH1(5727), GNE(10020), IHH(3549), SC5DL(6309), CANT1(124583), BAG3(9531), SEPN1(57190), AIP(9049), PEX7(5191), LRP5(4041), PTEN(5728), UROS(7390), UPB1(51733), SEC63(11231), CREBBP(1387), SIL1(64374), RAI1(10743), SLC12A6(9990), PTH1R(5745), RAB23(51715), NAGLU(4669), MAN2B1(4125), TOR1A(1861), TRAPPC2(6399), COMP(1311), ENPP1(5167), LMNA(4000), COL9A1(1297), MECP2(4204), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), COL6A1(1291), SPG20(23111), CUL4B(8450), NDN(4692), PHF6(84295), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), COL2A1(1280), FUCA1(2517), UBE3A(7337), CBS(875), PQBP1(10084), NEB(4703), ANKH(56172), VPS13B(157680), UBA1(7317), ABCC6(368), TBX5(6910), TBX1(6899), PORCN(64840), PLOD3(8985), LIFR(3977), RUNX2(860), EBP(10682), DLL3(10683), OFD1(8481), ALMS1(7840), MOGS(7841), CHD7(55636), HSD17B10(3028), ARSB(411), PLOD1(5351), EP300(2033), ARSE(415), PYCR1(5831), RPS6KA3(6197), ALDH18A1(5832), SPG7(6687), RBM28(55131), FLNA(2316), PLOD2(5352), SPAST(6683), FLNB(2317), IDS(3423), SOX9(6662), SOX2(6657), NF1(4763), NSDHL(50814), SLC35D1(23169), PMM2(5373), POMT1(10585), FMR1(2332), PLEKHG5(57449), NF2(4771), LAMA2(3908), LBR(3930), ARX(170302), MBTPS2(51360), CTSK(1513), MGAT2(4247), CTDP1(9150), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), MMP13(4322), PTPN11(5781), EGR2(1959), L1CAM(3897), FXN(2395), PHEX(5251), STAT3(6774), FTO(79068), SEMA3E(9723), EFNB1(1947), MMP2(4313), TPM2(7169), RPS19(6223), TPM3(7170)]
ABNORMALITY OF THE VERTEBRAL ENDPLATES(HP:0005106)	[TRAPPC2(6399), COMP(1311), PAPSS2(9060), GNPAT(8443), SOST(50964), WISP3(8838), CHST3(9469), COL2A1(1280), COL9A1(1297), SLC39A13(91252), MMP13(4322), EIF2AK3(9451)]
ABNORMALITY OF THE VERTEBRAL SPINOUS PROCESSES(HP:0008516)	[LBR(3930)]
ABNORMALITY OF THE VIIITH CRANIAL NERVE(HP:0009591)	[HRAS(3265), NF2(4771)]
ABNORMALITY OF THE VITREOUS HUMOR(HP:0004327)	[ERBB3(2065), TTR(7276), BEST1(7439), NDP(4693), BCOR(54880), RB1(5925), FZD4(8322), LRP5(4041), PROC(5624)]
ABNORMALITY OF THE VOCAL CORDS(HP:0008777)	[TRPV4(59341), MYCN(4613), MFN2(9927), SDHD(6392), C20orf54(113278), SDHC(6391), GDAP1(54332), MATR3(9782), PMP22(5376), DCTN1(1639), SDHAF2(54949)]
ABNORMALITY OF THE VOICE(HP:0001608)	[CHAT(1103), SLC19A2(10560), MYH3(4621), NSD1(64324), ANCR(282), MAPT(4137), TCF4(6925), MGP(4256), DCTN1(1639), FLNA(2316), CTNS(1497), IDS(3423), EDA(1896), CDKL5(6792), HRAS(3265), CRLF1(9244), MATR3(9782), ECM1(1893), GNPTAB(79158), BAG3(9531), CHRNA1(1134), COLQ(8292), SEPN1(57190), AGA(175), TSPYL1(7259), TSHB(7252), PRKRA(8575), SRD5A2(6716), BLM(641), LAMA3(3909), ASAH1(427), CHRNE(1145), CHRND(1144), C20orf54(113278), ACTA1(58), RAI1(10743), CHRNB1(1140), DBH(1621), THAP1(55145), GHR(2690), HSPG2(3339), TRPS1(7227), SNRPN(6638), UCHL1(7345), UPF3B(65109), SDHD(6392), ZEB2(9839), RAPSN(5913), SDHC(6391), MECP2(4204), KRT17(3872), POLG(5428), MUSK(4593), SLC26A2(1836), MED12(9968), CUL4B(8450), TRIM37(4591), NDN(4692), DGCR(1714), LEMD3(23592), GDAP1(54332), TRH(7200), UBE3A(7337), FTL(2512), KRT6B(3854), SMARCAL1(50485), ADAMTSL2(9719), PCNT(5116), SMCR(6600), TBP(6908), TBX1(6899), NIPBL(25836), TFAP2A(7020), LIFR(3977), SDHAF2(54949), TRPV4(59341), PANK2(80025), IGHMBP2(3508), FAM123B(139285), ALPL(249), AR(367), SMS(6611), PAX8(7849)]
ABNORMALITY OF THE WRIST(HP:0003019)	[HSPG2(3339), ADAMTSL2(9719), CLCN5(1184), COMP(1311), TBX15(6913), SALL4(57167), MYH3(4621), TNNI2(7136), GALNS(2588), OCRL(4952), VDR(7421), TNNT3(7140), CYP2R1(120227), FLNA(2316), SHOX(6473), ESCO2(157570), MMP2(4313), CYP27B1(1594), TUBB3(10381), SLC34A3(142680), TPM2(7169), PRG4(10216), GLB1(2720)]
ABNORMALITY OF THE ZYGOMATIC ARCH(HP:0005557)	[FBN1(2200), PEX19(5824), ABCD3(5825), FKRP(79147), ATRX(546), PEX2(5828), TWIST1(7291), PEX5(5830), TGFBR2(7048), PYCR1(5831), MYH3(4621), CCBE1(147372), GATA1(2623), TGFBR1(7046), MGP(4256), FLNA(2316), DCR(1637), FLNB(2317), BUB1B(701), NF1(4763), SLC35D1(23169), DNMT3B(1789), CANT1(124583), TCOF1(6949), BMP4(652), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), SEC23A(10484), PEX7(5191), BLM(641), ROR2(4920), DDR2(4921), SLC6A8(6535), LBR(3930), GJA1(2697), POU1F1(5449), COL1A2(1278), POR(5447), AGL(178), RAI1(10743), PTH1R(5745), RAB23(51715), COL1A1(1277), MAN2B1(4125), HSPG2(3339), EHMT1(79813), LMNA(4000), SIX3(6496), FGFR1(2260), FGFR3(2261), FGFR2(2263), MECP2(4204), COL11A2(1302), PAX3(5077), COL11A1(1301), SLC26A2(1836), GPC6(10082), KCNJ2(3759), COL2A1(1280), PAK3(5063), PQBP1(10084), PEX26(55670), SHH(6469), POMGNT1(55624), SMCR(6600), FOXC1(2296), SOST(50964), TP63(8626), ICK(22858), PEX3(8504), PLOD3(8985), TFAP2A(7020), LIFR(3977), RUNX2(860), EBP(10682), ATP6V0A2(23545), GORAB(92344), PVRL1(5818)]
ABNORMALITY OF THROMBOCYTES(HP:0001872)	[MMAA(166785), TINF2(26277), SH2D1A(4068), ATR(545), SALL4(57167), FOXP3(50943), SLC7A7(9056), THPO(7066), MYH9(4627), FANCD2(2177), FANCC(2176), FANCE(2178), HRG(3273), SMAD9(4093), STIM1(6786), LYST(1130), SLC2A10(81031), PSTPIP1(9051), UROS(7390), C10orf2(56652), GJA5(2702), MPL(4352), AP3B1(8546), MPV17(4358), KCNQ1(3784), PRSS1(5644), GP1BA(2811), SERPIND1(3053), GP9(2815), GP1BB(2812), NDRG1(10397), NHP2(55651), NBN(4683), APOE(348), HOXA11(3207), SBDS(51119), RAG2(5897), RAG1(5896), CBS(875), COL4A5(1287), ADA(100), NIPBL(25836), RUNX1(861), JAK2(3717), IVD(3712), FAS(355), CASP10(843), PIGM(93183), TBXAS1(6916), CD40LG(959), CD36(948), GATA1(2623), SCARB2(950), ITK(3702), PROC(5624), PROS1(5627), FLNA(2316), ITGB3(3690), TREX1(11277), SLC46A1(113235), HLCS(3141), PMM2(5373), TCIRG1(10312), ITGA2(3673), GALC(2581), TCN2(6948), ITGA2B(3674), ABCG8(64241), ABCG5(64240), DKC1(1736), PLAT(5327), LBR(3930), ELANE(1991), ADAMTS13(11093), SPINK1(6690), BMPR2(659), TNFSF11(8600), WFS1(7466), ACAD9(28976), MVK(4598), LMBRD1(55788), MUT(4594), PTPN11(5781), MPI(4351), SERPINC1(462), DGUOK(1716), CFH(3075), PHGDH(26227), NOP10(55505), SMARCAL1(50485), MMAB(326625), TERC(7012), TERT(7015), DCLRE1C(64421), FANCA(2175), MMACHC(25974), VHL(7428), VWF(7450), PCCB(5096), FCGR2C(9103), WAS(7454), GBA(2629), PNP(4860), RPS19(6223), SLC35A1(10559), MASTL(84930), G6PC3(92579), PCCA(5095)]
ABNORMALITY OF THYROID LABORATORY RESULTS(HP:0002926)	[SMARCAL1(50485), IYD(389434), THRB(7068), NKX2-1(7080), DUOX2(50506), TSHR(7253), SLC5A5(6528), DCAF17(80067), SLC16A2(6567), PAX8(7849)]
ABNORMALITY OF TIBIAL EPIPHYSES(HP:0006508)	[COL11A1(1301)]
ABNORMALITY OF UPPER LIP(HP:0000177)	[FKRP(79147), AVP(551), ATRX(546), TGIF1(7050), CCBE1(147372), MYH3(4621), NSD1(64324), HSD17B4(3295), GLI3(2737), ESCO2(157570), NOG(9241), ALX3(257), MYH8(4626), CRLF1(9244), PTCH1(5727), RPGRIP1L(23322), GNE(10020), GNPTAB(79158), SC5DL(6309), SLC2A10(81031), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), ABCC8(6833), FKTN(2218), RAB3GAP2(25782), AP3B1(8546), GJA1(2697), CHRNG(1146), PROKR2(128674), ATP7A(538), ACTB(60), KCNJ11(3767), SNRPN(6638), PDHA1(5160), RAPSN(5913), FGFR1(2260), EVC2(132884), NBN(4683), FGFR2(2263), COL11A1(1301), LMX1B(4010), NDN(4692), FGD1(2245), GPC6(10082), KCNJ2(3759), IGF1R(3480), PQBP1(10084), FOXC2(2303), TBCE(6905), VPS13B(157680), OPHN1(4983), TNNI2(7136), TBX1(6899), ICK(22858), PORCN(64840), PLOD3(8985), TNNT3(7140), NIPBL(25836), OFD1(8481), KDM5C(8242), FAM123B(139285), DOK7(285489), CUL7(9820), SMS(6611), CHD7(55636), LARGE(9215), MGP(4256), ERCC6(2074), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), MID1(4281), BUB1B(701), ADSL(158), PMM2(5373), POMT1(10585), BMP4(652), BCOR(54880), IRF6(3664), MKS1(54903), MSX2(4488), ARX(170302), KIAA1279(26128), POMT2(29954), TRPS1(7227), WHCR(7467), CD96(10225), WHSC1(7468), SIX3(6496), ATIC(471), LMBRD1(55788), PAX3(5077), INS(3630), MED12(9968), DHCR7(1717), DGCR(1714), WNT3(7473), FREM2(341640), EVC(2121), PAK3(5063), PITX2(5308), ADAMTSL2(9719), FRAS1(80144), SHH(6469), GCK(2645), TP63(8626), KRAS(3845), HYLS1(219844), TFAP2B(7021), EFNB1(1947), TFAP2A(7020), MMACHC(25974), SEMA3E(9723), PCCB(5096), ATP6V0A2(23545), TPM2(7169), RPS19(6223), PVRL1(5818), PCCA(5095)]
ABNORMALITY OF VISION(HP:0000504)	[FBN1(2200), LRAT(9227), DDB2(1643), FKRP(79147), MERTK(10461), CLN6(54982), HSD17B4(3295), TGFBI(7045), DPM1(8813), TGFB1(7040), PRPH2(5961), ABCA1(19), COQ2(27235), ADAMTS10(81794), RDH5(5959), SPATA7(55812), OPN1LW(5956), RHO(6010), GRK1(6011), LYST(1130), GJB2(2706), CHM(1121), C20orf7(79133), NPHP4(261734), FH(2271), OCA2(4948), CYP4V2(285440), RAPSN(5913), OCRL(4952), FGFR2(2263), POLG(5428), POLH(5429), FGF14(2259), COL18A1(80781), AAAS(8086), GPR143(4935), TUBB3(10381), POLA1(5422), OAT(4942), DTNBP1(84062), OPA1(4976), FOXC2(2303), RBP4(5950), GNAS(2778), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), GM2A(2760), PRNP(5621), BTD(686), PLA2G6(8398), SLC25A22(79751), RPGR(6103), ERCC2(2068), RP2(6102), RP1(6101), RP9(6100), PRPS1(5631), ERCC6(2074), SEMA4A(64218), BLOC1S3(388552), SH3BP2(6452), CLN8(2055), TREX1(11277), TCIRG1(10312), GALC(2581), TCOF1(6949), MFSD8(256471), SPG11(80208), BCOR(54880), CNGA3(1261), CNGB1(1258), AGXT(189), RPE65(6121), XPC(7508), ZNF469(84627), OPA3(80207), XPA(7507), HPS6(79803), ZFYVE26(23503), GJB6(10804), PAX6(5080), ST3GAL5(8869), FZD4(8322), CEP290(80184), EIF2B2(8892), EIF2B5(8893), CA2(760), PPT1(5538), DGCR(1714), AHI1(54806), EIF2B4(8890), RLBP1(6017), EIF2B3(8891), HEXA(3073), HEXB(3074), CFH(3075), ABCD1(215), EPM2A(7957), FRAS1(80144), COQ9(57017), SHH(6469), FRMD7(90167), IMPDH1(3614), MFN2(9927), BEST1(7439), PROM1(8842), SOST(50964), TIMM8A(1678), OPN1MW(2652), ALDH3A2(224), CLN5(1203), TPP1(1200), CLN3(1201), APTX(54840), CABC1(56997), PITPNM3(83394), PGK1(5230), TACSTD2(4070), SCN1A(6323), HPS5(11234), MAPT(4137), EDNRA(1909), GUCA1A(2978), ATXN7(6314), USH2A(7399), GUCY2D(3000), ELOVL4(6785), CLRN1(7401), MYO7A(4647), CRX(1406), TMEM216(51259), SAT1(6303), LRP2(4036), LRP5(4041), PEX7(5191), PTEN(5728), MCOLN1(57192), SAG(6295), NR2E3(10002), CACNA1A(773), AP3B1(8546), CNNM4(26504), NAGA(4668), CACNA1F(778), C1QTNF5(114902), CNGB3(54714), NYX(60506), INPP5E(56623), PDE6B(5158), NHLRC1(378884), PDSS2(57107), PIKFYVE(200576), PHF6(84295), NDP(4693), NDUFA1(4694), IGBP1(3476), COL4A1(1282), PDSS1(23590), COL2A1(1280), PQBP1(10084), POMGNT1(55624), CHST6(4166), VPS13B(157680), ABCC6(368), HPS3(84343), TBX1(6899), NDUFS1(4719), NDUFV1(4723), PDE6C(5146), NDUFS2(4720), TYR(7299), NDUFS6(4726), ALMS1(7840), NDUFS4(4724), PLOD1(5351), PHOX2A(401), NDUFAF2(91942), CTNS(1497), TTR(7276), ATXN3(4287), MITF(4286), NEU1(4758), ASPA(443), LAMB2(3913), PRPF8(10594), NDUFAF3(25915), TSC1(7248), CTSD(1509), ARX(170302), MBTPS2(51360), PLG(5340), LAMP2(3920), TNFSF11(8600), NHS(4810), ATP1A2(477), GRM6(2916), ATIC(471), RS1(6247), CDH3(1001), PRPF3(9129), EIF2B1(1967), FREM2(341640), FXN(2395), ST14(6768), ALG3(10195), VCAN(1462), TP63(8626), MMACHC(25974), PHYH(5264), HPS4(89781), SERPINI1(5274), NOTCH3(4854)]
ABNORMALITY OF VISION EVOKED POTENTIALS(HP:0000649)	[OPA1(4976), GALC(2581), AAAS(8086), PLA2G6(8398), FKRP(79147), SLC25A22(79751), POMGNT1(55624), MFN2(9927), FXN(2395), POLG(5428), NOTCH3(4854)]
ABNORMALITY OF VITAMIN B12 METABOLISM(HP:0004341)	[SUCLA2(8803), MMAB(326625), MMADHC(27249), MMAA(166785), MTRR(4552), MCEE(84693), MTR(4548), LMBRD1(55788), MMACHC(25974), MUT(4594)]
ABNORMALLY FOLDED HELIX(HP:0008544)	[MED12(9968)]
ABNORMALLY LAX OR HYPEREXTENSIBLE SKIN(HP:0008067)	[PEX19(5824), FBN1(2200), PLOD1(5351), CD96(10225), NPR2(4882), PEX5(5830), EFEMP2(30008), PYCR1(5831), RPS6KA3(6197), ALDH18A1(5832), NSD1(64324), FGFR3(2261), LOX(4015), FGFR2(2263), MED12(9968), SLC7A7(9056), FGF10(2255), COL5A1(1289), HRAS(3265), FBLN5(10516), GSN(2934), COL3A1(1281), PEX26(55670), LAMB1(3912), ELN(2006), SLC2A10(81031), TNXB(7148), OSMR(9180), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), SLC39A13(91252), ATP6V0A2(23545), GORAB(92344), COL1A2(1278), ZNF469(84627), COL1A1(1277), ADAMTS2(9509), ATP7A(538)]
ABNORMALLY POINTED UPPER LATERAL INCISORS(HP:0006345)	[B3GALTL(145173)]
ABNORMALLY PROMINENT LINE OF SCHWALBE(HP:0007873)	[PTEN(5728), PITX2(5308)]
ABNORMALLY SHAPED CARPAL BONES(HP:0006014)	[GPC3(2719), COMP(1311), NSD1(64324), GDF5(8200), FGFR2(2263), EIF2AK3(9451)]
ABOLISHED ELECTRORETINOGRAM (ERG)(HP:0000550)	[MYO7A(4647), ACOX1(51), LRAT(9227), FKRP(79147), PPT1(5538), RBP4(5950), TPP1(1200), CLN3(1201), POMGNT1(55624), PROM1(8842), HSD17B4(3295), NR2E3(10002)]
ABORMALITY OF PHENYLALANINE AND TYROSINE METABOLISM(HP:0004338)	[PAH(5053), FAH(2184), GCH1(2643), QDPR(5860), HPD(3242), PTS(5805), PCBD1(5092), SPR(6697)]
ABSCESS FORMATION IN ANY ORGAN(HP:0002722)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
ABSENCE OF ACOUSTIC MIDDLE EAR MUSCLE REFLEXES(HP:0008595)	[OTOF(9381)]
ABSENCE OF BACTERICIDAL OXIDATIVE 'RESPIRATORY BURST' IN PHAGOCYTES(HP:0002723)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
ABSENCE OF CORTICOMEDULLARY DIFFERENTIATION(HP:0005564)	[INVS(27130), PKHD1(5314)]
ABSENCE OF INCISORS(HP:0006485)	[B3GALTL(145173), BLM(641)]
ABSENCE OF INTRINSIC FACTOR BY IMMUNOASSAY OF GASTRIC JUICES(HP:0005219)	[GIF(2694)]
ABSENCE OF LABIA MAJORA(HP:0008729)	[CHRNG(1146)]
ABSENCE OF PECTORALIS MINOR MUSCLE(HP:0005255)	[LMX1B(4010)]
ABSENCE OF PERMANENT TEETH(HP:0006349)	[OFD1(8481), RECQL4(9401), LRP5(4041), RAB23(51715), UBR1(197131), MSX1(4487)]
ABSENCE OF PUBERTAL DEVELOPMENT(HP:0008197)	[NR0B1(190)]
ABSENCE OF RADIUS AND ULNA(HP:0005012)	[ESCO2(157570)]
ABSENCE OF SECONDARY SEX CHARACTERISTICS(HP:0008187)	[GNRH1(2796)]
ABSENCE OF SPONTANEOUS RESPIRATION(HP:0005958)	[NEB(4703)]
ABSENCE OF STENSEN DUCT(HP:0000198)	[FGF10(2255), TP63(8626), FGFR3(2261)]
ABSENCE OF SUBCUTANEOUS FAT(HP:0007485)	[LMNA(4000)]
ABSENCE SEIZURES(HP:0002121)	[GABRG2(2566), CSTB(1476), SCN1A(6323), ALDH5A1(7915), EPM2A(7957), NHLRC1(378884)]
ABSENT ANKLE REFLEXES(HP:0003438)	[MYOT(9499), ATXN3(4287), DYSF(8291), SACS(26278)]
ABSENT ANTERIOR EYE CHAMBER(HP:0008037)	[LRP5(4041)]
ABSENT AXILLARY HAIR(HP:0002221)	[GJB6(10804), APOE(348), AR(367)]
ABSENT B CELLS(HP:0002856)	[ADA(100), RAG2(5897), DCLRE1C(64421), RAG1(5896)]
ABSENT BRAINSTEM AUDITORY RESPONSES(HP:0004463)	[SOX10(6663), OTOF(9381)]
ABSENT CARPAL BONES/ABSENT OSSIFICATION OF THE CARPAL BONES(HP:0004231)	[RECQL4(9401), LMBR1(64327)]
ABSENT CARPALS, METACARPALS, AND PHALANGES(HP:0005056)	[RECQL4(9401)]
ABSENT CELLULAR IMMUNITY(HP:0005354)	[AK2(204)]
ABSENT CONE AND ROD FUNCTIONS BY ELECTRORETINOGRAM(HP:0008280)	[IMPDH1(3614), RP1(6101), RP9(6100)]
ABSENT DEEP TENDON REFLEXES(HP:0001314)	[PRNP(5621), GAA(2548), JAG1(182), ATXN1(6310), CNTN1(1272), LIFR(3977), C10orf2(56652)]
ABSENT DISTAL PHALANGES(HP:0005807)	[NOG(9241)]
ABSENT EXTERNAL GENITALIA(HP:0000042)	[WNT3(7473)]
ABSENT EYEBROWS(HP:0002223)	[MAP2K1(5604), EDA(1896), MAP2K2(5605), FRAS1(80144), SAT1(6303), SOX18(54345), KRAS(3845), FREM2(341640), BRAF(673)]
ABSENT EYEBROWS AND EYELASHES(HP:0002288)	[MAP2K1(5604), MAP2K2(5605), FRAS1(80144), SAT1(6303), SOX18(54345), KRAS(3845), FREM2(341640), BRAF(673)]
ABSENT EYELASHES(HP:0000561)	[MAP2K1(5604), MAP2K2(5605), FRAS1(80144), SAT1(6303), SOX18(54345), KRAS(3845), FREM2(341640), BRAF(673)]
ABSENT FACIAL HAIR(HP:0002550)	[AR(367)]
ABSENT FINGERNAILS(HP:0001817)	[PORCN(64840)]
ABSENT FOREARM(HP:0005632)	[LMBR1(64327)]
ABSENT FRONTAL SINUSES(HP:0002688)	[TRIM37(4591), ATRX(546), DNAI1(27019), CTSK(1513), COL11A1(1301), FLNA(2316), RUNX2(860)]
ABSENT HAIR(HP:0002298)	[WNT10A(80326)]
ABSENT HANDS(HP:0004050)	[LMBR1(64327)]
ABSENT LACRIMAL PUNCTA(HP:0001092)	[FGF10(2255), TP63(8626), FGFR3(2261), UBR1(197131)]
ABSENT MICROVILLI ON THE SURFACE OF PERIPHERAL BLOOD LYMPHOCYTES(HP:0002971)	[WAS(7454)]
ABSENT NASAL SEPTAL CARTILAGE(HP:0005273)	[TGIF1(7050), SIX3(6496)]
ABSENT NIPPLES(HP:0002561)	[EDA(1896), TP63(8626)]
ABSENT OF SMALL FRONTAL SINUS(HP:0005475)	[TRIM37(4591)]
ABSENT OR HYPOPLASTIC RADII(HP:0004989)	[RECQL4(9401)]
ABSENT OR MALFORMED LACRIMAL DUCTS(HP:0007993)	[FRAS1(80144), FREM2(341640)]
ABSENT OR MINIMALLY OSSIFIED VERTEBRAL BODIES(HP:0004599)	[SLC26A2(1836), LBR(3930), TRIP11(9321), ALPL(249), COL2A1(1280)]
ABSENT OR RUDIMENTARY FALLOPIAN TUBES(HP:0008655)	[WNT4(54361)]
ABSENT OR SCANTY EYELASHES AND EYEBROWS(HP:0004555)	[EDA(1896), GJB2(2706)]
ABSENT OR SEVERELY REDUCED LEVELS OF SERUM IMMUNOGLOBULINS(HP:0008328)	[BTK(695)]
ABSENT OR SMALL DYSPLASTIC THYMUS(HP:0005359)	[ADA(100)]
ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974)	[SALL4(57167), FANCA(2175), FGFR3(2261), LMBR1(64327), FLNB(2317), ESCO2(157570), FGF10(2255), HOXD13(3239), MIPOL1(145282), CECR(1055), FANCD2(2177), FANCC(2176), FANCE(2178)]
ABSENT OSSIFICATION/ABSENT FOREARM BONES(HP:0003953)	[SALL4(57167), FANCA(2175), FGFR3(2261), LMBR1(64327), FLNB(2317), ESCO2(157570), FGF10(2255), HOXD13(3239), MIPOL1(145282), CECR(1055), FANCD2(2177), FANCC(2176), FANCE(2178), WNT7A(7476)]
ABSENT OSSIFICATION/ABSENT ULNA(HP:0003982)	[LMBR1(64327), WNT7A(7476)]
ABSENT PARANASAL SINUSES(HP:0002689)	[RUNX2(860)]
ABSENT PATELLAR REFLEXES(HP:0006844)	[LIFR(3977)]
ABSENT PERIPHERAL BLOOD B CELLS(HP:0005365)	[RAG2(5897), RAG1(5896)]
ABSENT PERIPHERAL BLOOD T CELLS(HP:0005379)	[RAG2(5897), RAG1(5896)]
ABSENT PIGMENTATION OF VENTRAL CHEST, ABDOMEN AND LIMBS(HP:0007542)	[SNAI2(6591)]
ABSENT PRIMARY METAPHYSEAL SPONGIOSA(HP:0003332)	[TRPV4(59341)]
ABSENT PROXIMAL FINGER FLEXION CREASES(HP:0006077)	[TBX15(6913)]
ABSENT PUBIC AND AXILLARY HAIR(HP:0004556)	[AR(367)]
ABSENT PUBIC HAIR(HP:0002555)	[GJB6(10804), AR(367)]
ABSENT PUBIC OSSIFICATION IN INFANCY(HP:0008827)	[COL2A1(1280)]
ABSENT PULMONARY ARTERY(HP:0004960)	[CRTAP(10491)]
ABSENT ROD-AND CONE-MEDIATED RESPONSES ON ERG(HP:0007688)	[NR2E3(10002)]
ABSENT SEPTUM PELLUCIDUM(HP:0001331)	[WHCR(7467), L1CAM(3897), WHSC1(7468), DOK7(285489), HCCS(3052), HESX1(8820), RAPSN(5913), NSD1(64324), FGFR2(2263), HYLS1(219844)]
ABSENT SPECIFIC ANTIBODY RESPONSE(HP:0005424)	[ADA(100)]
ABSENT SPEECH(HP:0001617)	[CUL4B(8450), CDKL5(6792), ZEB2(9839), ANCR(282), TCF4(6925), MECP2(4204), UBE3A(7337)]
ABSENT SPEECH DEVELOPMENT(HP:0001344)	[ST3GAL5(8869), TCF4(6925), PRPS1(5631), PRPS2(5634)]
ABSENT STERNAL MINERALIZATION(HP:0006654)	[SOX9(6662)]
ABSENT STYLOID PROCESSES(HP:0005068)	[COL2A1(1280)]
ABSENT TALUS AND CALCANEAL OSSIFICATION IN INFANCY(HP:0008142)	[COL2A1(1280)]
ABSENT TOENAILS(HP:0001802)	[LBR(3930), PORCN(64840)]
ABSENT UPPER LATERAL INCISORS(HP:0000690)	[B3GALTL(145173), BLM(641)]
ABSENT URINARY UROTHIONE(HP:0003606)	[GPHN(10243), MOCS2(4338), MOCS1(4337)]
ABSENT UTERUS(HP:0000151)	[WHCR(7467), WHSC1(7468), WNT4(54361), AR(367), WNT7A(7476)]
ABSENT UVULA(HP:0010292)	[ROR2(4920)]
ABSENT VAGINA(HP:0003250)	[WNT4(54361), PAX3(5077)]
ABSENT VERTEBRAL BODY MINERALIZATION(HP:0004605)	[COL2A1(1280)]
ABSENT VESTIBULAR FUNCTION(HP:0008555)	[MYO7A(4647)]
ABSENT-HYPOPLASTIC ULNAE(HP:0006410)	[FLNB(2317)]
ABSENT-SMALL CAPITAL FEMORAL EPIPHYSES(HP:0005003)	[COL11A2(1302)]
ABSENT/HYPOPLASTIC COCCYX(HP:0008436)	[FUCA1(2517)]
ABSENT/HYPOPLASTIC PARANASAL SINUSES(HP:0005453)	[FAM123B(139285), FUCA1(2517)]
ABSENT/HYPOPLASTIC TEETH(HP:0000688)	[RPS6KA3(6197), ERCC8(1161), ERCC6(2074)]
ABSENT/HYPOPLASTIC UTERUS(HP:0008684)	[SRY(6736), WHCR(7467), HCCS(3052), WHSC1(7468), IRF6(3664), B3GALTL(145173), DCAF17(80067), HNF1B(6928), DHH(50846), WNT4(54361), AR(367), WNT7A(7476), BMPR1B(658), CYP11B1(1584)]
ABSENT/POOR CORTICOMEDULLARY DIFFERENTIATION(HP:0005565)	[NIPBL(25836)]
ACANTHOSIS NIGRICANS(HP:0000956)	[PPP1R3A(5506), BSCL2(26580), PPARG(5468), INSR(3643), HRAS(3265), LMNA(4000), ALMS1(7840), AGPAT2(10555), FGFR2(2263), PTEN(5728), TGFA(7039)]
ACCELERATED ATHEROSCLEROSIS(HP:0004943)	[ABCC6(368)]
ACCELERATED BONE AGE AFTER PUBERTY(HP:0002805)	[TRPS1(7227)]
ACCELERATED SKELETAL MATURATION(HP:0005616)	[BSCL2(26580), TRPS1(7227), GPC3(2719), NSD1(64324), TSHR(7253), CDKN1C(1028), H19(283120), GLI3(2737), KCNQ1OT1(10984), ALMS1(7840), AGPAT2(10555), CYP19A1(1588), MC2R(4158), CYP11B1(1584), CANT1(124583)]
ACCESSORY CARPAL BONES(HP:0004232)	[FLNA(2316), FLNB(2317)]
ACCESSORY PHALANX OF THE THUMB(HP:0009619)	[SALL1(6299), FGF10(2255), HOXD13(3239), TBX5(6910), SALL4(57167), FGFR3(2261), RPS19(6223), LMBR1(64327)]
ACCESSORY SPLEEN(HP:0001747)	[MYCN(4613), MKS1(54903), ESCO2(157570), WHCR(7467), WHSC1(7468), HYLS1(219844)]
ACCIDENTAL INJURY AND ULCERATION OF THE LIPS AND TONGUE DUE TO DECREASED SENSATION(HP:0002713)	[NTRK1(4914), NGF(4803)]
ACCUMULATION OF MELANOSOMES IN MELANOCYTES(HP:0001008)	[RAB27A(5873), MYO5A(4644), LYST(1130)]
ACETABULAR DYSPLASIA(HP:0008807)	[GUSB(2990), AP3B1(8546)]
ACETABULAR SPURS(HP:0010454)	[COL2A1(1280)]
ACHALASIA(HP:0002571)	[AAAS(8086), ACTB(60)]
ACHILLES TENDON CONTRACTURES(HP:0001771)	[FKRP(79147), MYOT(9499), HRAS(3265), LMNA(4000), LARGE(9215), COL6A2(1292), ALS2(57679), EMD(2010)]
ACHILLES TENDON CONTRACTURES, MILD(HP:0005031)	[LARGE(9215)]
ACHROMATIC RETINAL PATCHES(HP:0009727)	[TSC1(7248), TSC2(7249)]
ACIDOSIS(HP:0001941)	[CPT1A(1374), SUCLG1(8802), FBP1(2203), AUH(549), SUCLA2(8803), MMAA(166785), VPS33B(26276), POLG2(11232), MCCC1(56922), SLC7A7(9056), COX15(1355), COQ2(27235), TYMP(1890), GYS2(2998), UQCRB(7381), TK2(7084), ACADM(34), ACADS(35), MRPS22(56945), ATP6V1B1(525), NEUROG3(50674), GK(2710), SURF1(6834), C10orf2(56652), SCO2(9997), C20orf7(79133), DBT(1629), MPV17(4358), UMPS(7372), PUS1(80324), NDUFS7(374291), PDHA1(5160), FH(2271), SDHA(6389), BCS1L(617), POLG(5428), TSFM(10102), PDP1(54704), PDSS2(57107), NDUFA1(4694), NDUFA2(4695), PDSS1(23590), C8orf38(137682), SLC37A4(2542), COX6B1(1340), G6PC(2538), ARG1(383), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), TAZ(6901), BCKDHA(593), WNK1(65125), NDUFS3(4722), NDUFV1(4723), DPYS(1807), HADHB(3032), NDUFS2(4720), TMEM70(54968), BCKDHB(594), NDUFS6(4726), CLDN16(10686), IVD(3712), FASTKD2(22868), NDUFS4(4724), OGDH(4967), HPD(3242), NDUFS8(4728), ATPAF2(91647), HADHA(3030), SDHAF1(644096), MLYCD(23417), HSD17B10(3028), BTD(686), SLC4A4(8671), LCT(3938), LDHA(3939), NDUFAF2(91942), HMGCL(3155), CTNS(1497), GALT(2592), UQCRQ(27089), HLCS(3141), FN1(2335), TRMU(55687), LRPPRC(10128), NDUFAF3(25915), DLAT(1737), DLD(1738), ETFDH(2110), ETFB(2109), PNPO(55163), ETFA(2108), INVS(27130), ADAMTS13(11093), GFM1(85476), AGXT(189), PDHX(8050), MRPS16(51021), ETHE1(23474), ISCU(23479), MUT(4594), DGUOK(1716), CA2(760), SLC2A2(6514), SLC17A3(10786), GSS(2937), SLC4A1(6521), SLC5A1(6523), COQ9(57017), MMAB(326625), ALDOB(229), PHKG2(5261), MMACHC(25974), WNK4(65266), PCCB(5096), MCEE(84693), APTX(54840), PC(5091), PCCA(5095), CABC1(56997), GCDH(2639)]
ACNE(HP:0001061)	[RBP4(5950), AGA(175), DGCR(1714), PAPSS2(9060), TBX1(6899), WNT4(54361), PSTPIP1(9051), FGFR2(2263)]
ACRAL HYPERTROPHY(HP:0008856)	[INSR(3643)]
ACRAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION OF THE DIGITS(HP:0001226)	[NTRK1(4914), NGF(4803)]
ACRAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION OF THE DIGITS (FEET)(HP:0001862)	[NTRK1(4914), NGF(4803)]
ACRAL ULCERATION LEADING TO AUTOAMPUTATION OF DIGITS(HP:0006121)	[FAM134B(54463), WNK1(65125)]
ACROBRACHYCEPHALY(HP:0004487)	[FGFR2(2263)]
ACROCYANOSIS(HP:0001063)	[JAK2(3717), IKBKAP(8518), MPL(4352), THPO(7066), AGXT(189), RPS6KA3(6197), TREX1(11277), ETHE1(23474)]
ACROKERATOSIS(HP:0200016)	[ATP2A2(488)]
ACROMEGALY(HP:0000845)	[SSTR5(6755), GNAS(2778), PRKAR1A(5573), AIP(9049), CDKN1B(1027), MEN1(4221)]
ACROMESOMELIA(HP:0003086)	[NPR2(4882), GDF5(8200)]
ACROOSTEOLYSIS (FEET)(HP:0001842)	[WNK1(65125), LMNA(4000), COL3A1(1281), ZMPSTE24(10269)]
ACROOSTEOLYSIS OF DISTAL PHALANGES (FEET)(HP:0001870)	[LMNA(4000), ZMPSTE24(10269)]
ACTH-INDEPENDENT HYPERCORTISOLEMIA(HP:0001579)	[PDE11A(50940), PRKAR1A(5573)]
ACTION AND POSTURAL TREMOR(HP:0007197)	[ATXN2(6311)]
ACTION TREMOR(HP:0002345)	[PPP2R2B(5521), MPZ(4359), ITPR1(3708), JPH3(57338), SCARB2(950), PMP22(5376)]
ACUTE ENCEPHALOPATHY(HP:0006846)	[SLC25A15(10166), NDUFAF3(25915), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), NDUFAF2(91942), PCCB(5096), NDUFV1(4723), NDUFS2(4720), C20orf7(79133), NDUFS6(4726), NDUFS4(4724), NDUFA1(4694), ACY1(95), PCCA(5095)]
ACUTE EPISODES OF NEUROPATHIC SYMPTOMS(HP:0003489)	[CPOX(1371), HMBS(3145)]
ACUTE HEPATIC FAILURE(HP:0006554)	[TRMU(55687), FAH(2184), HADH(3033), GFM1(85476), SH2D1A(4068)]
ACUTE LEUKEMIA(HP:0002488)	[ARHGEF12(2