#Format: entrez-gene-id	entrez-gene-symbol	[HPOTermName1(HPO-ID1), HPOTermName2(HPO-ID2)] (tab is used as a separator, pound sign - start of a comment)
2	A2M	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
9	NAT1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
18	ABAT	[RETROGNATHIA(HP:0000278), POSTERIOR FOSSA CYSTS(HP:0007291), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERREFLEXIA(HP:0001347), PSYCHOMOTOR RETARDATION(HP:0001255), LETHARGY(HP:0001254), SEIZURES(HP:0001250), SEVERE MUSCULAR HYPOTONIA(HP:0006829), AGENESIS OF CORPUS CALLOSUM(HP:0001274), EARLY DEATH(HP:0001432), METABOLISM ABNORMALITY(HP:0001939), LEUKODYSTROPHY(HP:0002415), CEREBELLAR HYPOPLASIA(HP:0001321), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), INCREASED LINEAR GROWTH(HP:0003515)]
19	ABCA1	[NEUROPATHY(HP:0003407), DRY SKIN(HP:0000958), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SYRINGOMYELIA(HP:0003396), MYOCARDIAL INFARCTION(HP:0001658), ABNORMALITY OF THE MOUTH(HP:0000153), HYPOCHOLESTEROLEMIA(HP:0003146), FACIAL DIPLEGIA(HP:0001349), VISUAL LOSS(HP:0000572), CORNEAL CLOUDING(HP:0000515), SPLENOMEGALY(HP:0001744), HYPOREFLEXIA(HP:0001265), ECTROPION(HP:0000656), HYPERSPLENISM(HP:0001971), DISTAL MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0006864), AMYOTROPHY INVOLVING THE MUSCULATURE OF THE HAND(HP:0009130), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), HEPATOMEGALY(HP:0002240), NAIL DYSPLASIA(HP:0002164), AXONAL PERIPHERAL NEUROPATHY(HP:0007169), DEMYELINATION(HP:0003381)]
21	ABCA3	[RESPIRATORY DISTRESS(HP:0002098), HETEROGENEOUS(HP:0001425), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DESQUAMATIVE INTERSTITIAL PNEUMONITIS(HP:0005942), APNEA(HP:0002104), FAILURE TO THRIVE(HP:0001508), ONSET AT BIRTH(HP:0003577), TACHYPNEA(HP:0002789), RESPIRATORY INSUFFICIENCY(HP:0002093)]
22	ABCB7	[DYSMETRIA(HP:0001310), DYSDIADOCHOKINESIS(HP:0002075), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPERREFLEXIA(HP:0001347), BABINSKI SIGN(HP:0003487), SPINOCEREBELLAR ATAXIA(HP:0002513), HYPOCHROMIC, MICROCYTIC ANEMIA(HP:0004840), SPINOCEREBELLAR ATROPHY(HP:0007263), METABOLISM ABNORMALITY(HP:0001939), DYSARTHRIA(HP:0001260), CLONUS(HP:0002169), CEREBELLAR ATAXIA, NONPROGRESSIVE(HP:0002470), INTENTION TREMOR(HP:0002080), ONSET IN EARLY CHILDHOOD(HP:0003580)]
24	ABCA4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CENTRAL RETINITIS PIGMENTOSA(HP:0008506), SENILE MACULAR DEGENERATION(HP:0007868)]
25	ABL1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CHRONIC MYELOGENOUS LEUKEMIA(HP:0005506)]
33	ACADL	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SUDDEN CARDIAC DEATH(HP:0001645), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), NONKETOTIC HYPOGLYCEMIA(HP:0001958), HEPATOMEGALY(HP:0002240), DICARBOXYLIC ACIDURIA(HP:0003215), MUSCULAR HYPOTONIA(HP:0001252), HEPATIC STEATOSIS(HP:0001397), VOMITING(HP:0002013), DECREASED PLASMA CARNITINE(HP:0003234), MUSCLE WEAKNESS(HP:0001324), ONSET IN INFANCY(HP:0003576)]
34	ACADM	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD METABOLIC ACIDOSIS(HP:0004895), ELEVATED LIVER ENZYMES(HP:0003293), FATTY INFILTRATION OF LIVER(HP:0002252), GLYCINURIA(HP:0002931), CEREBRAL EDEMA(HP:0002181), HEPATOMEGALY(HP:0002240), PSYCHOMOTOR RETARDATION(HP:0001255), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), VOMITING(HP:0002013), MEDIUM CHAIN DICARBOXYLIC ACIDURIA(HP:0008309), DECREASED PLASMA CARNITINE(HP:0003234)]
35	ACADS	[CONTRACTURES(HP:0001371), EXTERNAL OPHTHALMOPLEGIA(HP:0000544), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), HIGHLY VARIABLE PHENOTYPE(HP:0003815), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), FAILURE TO THRIVE(HP:0001508), METABOLIC ACIDOSIS, EPISODIC(HP:0004911), HYPOKINESIA(HP:0002375), ETHYLMALONIC ACIDURIA(HP:0003219), ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500), FACIAL MUSCLE WEAKNESS(HP:0010628), SPEECH DELAY(HP:0002117), SCOLIOSIS(HP:0002650), PSYCHOSIS(HP:0000709), ONSET AT BIRTH OR EARLY CHILDHOOD(HP:0003595)]
36	ACADSB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOTHERMIA(HP:0002045), GENERALIZED AMYOTROPHY(HP:0003700), EXOTROPIA(HP:0000577), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), APNEIC EPISODES IN INFANCY(HP:0005949), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), MOTOR RETARDATION(HP:0001270), MICROCEPHALY(HP:0000252), ONSET IN INFANCY(HP:0003576)]
37	ACADVL	[SUDDEN CARDIAC DEATH(HP:0001645), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HEPATOCELLULAR NECROSIS(HP:0001404), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), RHABDOMYOLYSIS WITH EXERCISE(HP:0009045), MUSCLE STIFFNESS(HP:0003552), HEPATIC STEATOSIS(HP:0001397), ONSET BEFORE AGE 2 YEARS(HP:0003667), VOMITING(HP:0002013), MYOGLOBINURIA, EXERCISE-INDUCED(HP:0008305), NONKETOTIC HYPOGLYCEMIA(HP:0001958), HEPATOMEGALY(HP:0002240), TACHYPNEA(HP:0002789), DICARBOXYLIC ACIDURIA(HP:0003215), EXERCISE-INDUCED MYALGIA(HP:0003738), DECREASED PLASMA CARNITINE(HP:0003234), MUSCLE WEAKNESS(HP:0001324), INCREASED SERUM CREATINE KINASE(HP:0002147), EARLY ONSET(HP:0003593)]
38	ACAT1	[MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KETOACIDOSIS, EPISODIC(HP:0005974), DEHYDRATION(HP:0001944), VOMITING(HP:0002013)]
51	ACOX1	[ABOLISHED ELECTRORETINOGRAM (ERG)(HP:0000550), TAPETORETINAL DEGENERATION(HP:0000547), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), FRONTAL BOSSING(HP:0002007), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), HYPERTELORISM(HP:0000316), DYSPHAGIA(HP:0002015), INVERTED NIPPLES(HP:0003186), HEPATIC STEATOSIS, DIFFUSE(HP:0006555), FLATTENED NASAL BRIDGE(HP:0000425), BROAD NASAL BRIDGE(HP:0000431), HYPERTONIA(HP:0001276), ONSET IN INFANCY(HP:0003576), IRRITABILITY(HP:0000737), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), HEPATOMEGALY(HP:0002240), NO SOCIAL INTERACTION(HP:0008763), PIGMENTARY RETINOPATHY(HP:0000580), LOW-SET EARS(HP:0000369), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), LEUKODYSTROPHY(HP:0002415), DYSTONIA(HP:0001332), HEARING LOSS, SENSORINEURAL, BILATERAL(HP:0008619), FLATTENED OR ABSENT ELECTRORETINOGRAM(HP:0007845), BRACHYCEPHALY(HP:0000248), STRABISMUS(HP:0000486), DEMYELINATION(HP:0003381), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), NEONATAL HYPOTONIA(HP:0001319)]
53	ACP2	[MUSCULAR HYPOTONIA(HP:0001252), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VOMITING(HP:0002013), OPISTHOTONUS(HP:0002179), BLEEDING DIATHESIS(HP:0001892)]
58	ACTA1	[CONGENITAL HIP DISLOCATION(HP:0001374), JOINT CONTRACTURES(HP:0001372), RETROGNATHIA(HP:0000278), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NARROW, HIGH-ARCHED PALATE(HP:0009080), HIGHLY VARIABLE PHENOTYPE(HP:0003815), VARIABLE SEVERITY(HP:0003814), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178), WEAK CRY(HP:0001612), NEMALINE BODIES(HP:0003798), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES WITHOUT DYSTROPHIC OR INFLAMMATORY CHANGES(HP:0003802), GENERALIZED MUSCLE WEAKNESS(HP:0003324), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), ARTHROGRYPOSIS(HP:0001390), EMG SHOWS MYOPATHIC CHANGES EARLY IN DISEASE(HP:0009021), LONG, THIN FACE(HP:0000334), BULBAR PALSY(HP:0001283), MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211), TYPE 1 FIBERS ARE AT LEAST 12% SMALLER THAN TYPE 2 FIBERS(HP:0003755), WADDLING GAIT(HP:0002515), AREFLEXIA(HP:0001284), DISTAL LIMB MUSCLE WEAKNESS OCCURS LATER(HP:0003728), POLYHYDRAMNIOS(HP:0001561), OPHTHALMOPLEGIA(HP:0000602), DECREASED FETAL MOVEMENT(HP:0001558), NECK FLEXOR WEAKNESS(HP:0003722), NEONATAL HYPOTONIA(HP:0001319), PES CAVUS(HP:0001761), PROXIMAL MUSCLE WEAKNESS(HP:0003701), LIMB MUSCLE WEAKNESS(HP:0003690), MYOPATHIC FACIES(HP:0002058), CENTRALIZED NUCLEI(HP:0003687), ASTHENIC HABITUS(HP:0001533), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), FREQUENT FALLS(HP:0002359), HYPOREFLEXIA(HP:0001265), POOR FEEDING DUE TO MUSCLE WEAKNESS(HP:0002568), RESPIRATORY INSUFFICIENCY(HP:0002093), HETEROGENEOUS(HP:0001425), ONSET USUALLY AT BIRTH(HP:0003624), LUMBAR HYPERLORDOSIS(HP:0002938), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), LIMB CONTRACTURES(HP:0003121), SCOLIOSIS(HP:0002650)]
60	ACTB	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEARING LOSS, SENSORINEURAL(HP:0000407), CATARACT(HP:0000518), CLEFT PALATE(HP:0000175), DEVELOPMENTAL RETARDATION(HP:0001263), MENTAL RETARDATION, MILD(HP:0001256), LOW BIRTH WEIGHT(HP:0001518), ACHALASIA(HP:0002571), EXTERNALLY ROTATED HIPS(HP:0008796), CLEFT LIP(HP:0000204), HYPOPLASTIC SCAPULAE(HP:0000882), HIGH FOREHEAD(HP:0000348), ABNORMALITY OF THE PELVIS(HP:0002644), DYSTONIA(HP:0001332)]
70	ACTC1	[ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639)]
71	ACTG1	[HEARING LOSS, SENSORINEURAL, BILATERAL, PROGRESSIVE(HP:0008601), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
90	ACVR1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOPLASTIC/SHORT 1ST METACARPAL(HP:0010034), SMALL CERVICAL VERTEBRAL BODIES(HP:0004629), PROGRESSIVE CERVICAL VERTEBRAL SPINE FUSION(HP:0008449), ALOPECIA(HP:0001596), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), HALLUX VALGUS(HP:0001822), METAPHYSEAL WIDENING(HP:0003016), ABNORMALITY OF MUSCULATURE(HP:0003011), WIDELY SPACED TEETH(HP:0000687), HEARING LOSS, SENSORINEURAL(HP:0000407), HEARING LOSS, CONDUCTIVE(HP:0000405), MENTAL RETARDATION(HP:0001249), BROAD FEMORAL NECK(HP:0006429), RESPIRATORY INSUFFICIENCY(HP:0002093), MEAN AGE OF ONSET 18 YEARS(HP:0003628), HYDROPS(HP:0000990), SCOLIOSIS(HP:0002650), EDEMA(HP:0000969)]
94	ACVRL1	[HYPERTENSION(HP:0000822), HEPATIC ARTERIOVENOUS MALFORMATION(HP:0006574), SPONTANEOUS, RECURRENT EPISTAXIS(HP:0004406), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ERYTHROCYTOSIS(HP:0001901), ANEMIA(HP:0001903), CONJUNCTIVAL TELANGIECTASIA(HP:0000524), PALATE TELANGIECTASIA(HP:0002707), CIRRHOSIS(HP:0001394), PULMONARY ARTERIOVENOUS MALFORMATION(HP:0006548), MELENA(HP:0002249), HEMATEMESIS(HP:0002248), CLUBBING(HP:0001217), FINGERPAD TELANGIECTASES(HP:0006107), MIGRAINE(HP:0002076), NAIL BED TELANGIECTASES(HP:0001232), TRANSIENT ISCHEMIC ATTACK(HP:0002326), TELANGIECTASES (STOMACH, DUODENUM, SMALL BOWEL, COLON)(HP:0002604), SEIZURES(HP:0001250), NASAL MUCOSA TELANGIECTASES(HP:0000434), HEMATOCHEZIA(HP:0002573), DYSPNEA(HP:0002094), PULMONARY HYPERTENSION(HP:0002092), HETEROGENEOUS(HP:0001425), GASTROINTESTINAL ANGIODYSPLASIA(HP:0000471), ISCHEMIC STROKE(HP:0002140), SUBARACHNOID HEMORRHAGE(HP:0002138), SPINAL ARTERIOVENOUS MALFORMATION(HP:0002390), LIP TELANGIECTASES(HP:0000214), CEREBRAL ARTERIOVENOUS MALFORMATION(HP:0002408), TONGUE TELANGIECTASES(HP:0000227), GASTROINTESTINAL ARTERIOVENOUS MALFORMATION(HP:0002629), CYANOSIS(HP:0000961), RIGHT-TO-LEFT SHUNT(HP:0001694)]
95	ACY1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), DELAYED MYELINATION(HP:0002188), VARIABLE PHENOTYPE(HP:0003813), CEREBRAL ATROPHY(HP:0002059), PSYCHOMOTOR RETARDATION(HP:0001255), ACUTE ENCEPHALOPATHY(HP:0006846), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), HYPERTELORISM(HP:0000316), BROAD NASAL ROOT(HP:0000424), CEREBELLAR ATROPHY(HP:0001272), HYPOKINESIA(HP:0002375), HYPERACTIVITY(HP:0000752), METABOLISM ABNORMALITY(HP:0001939), MUSCLE WEAKNESS(HP:0001324)]
100	ADA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABSENT OR SMALL DYSPLASTIC THYMUS(HP:0005359), ABSENT B CELLS(HP:0002856), LYMPHOPENIA(HP:0001888), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), PLATYSPONDYLY(HP:0000926), ASTHMA(HP:0002099), EOSINOPHILIA(HP:0001880), DIARRHEA(HP:0002014), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), PNEUMONIA(HP:0002090), ABSENT SPECIFIC ANTIBODY RESPONSE(HP:0005424), DIFFUSE MESANGIAL SCLEROSIS(HP:0001967), LYMPHOMA(HP:0002665), HEPATOMEGALY(HP:0002240), INCREASED IGE LEVEL(HP:0003212), ABNORMALITY OF THE PELVIS(HP:0002644), IDIOPATHIC THROMBOCYTOPENIA(HP:0001936), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), COMBINED IMMUNODEFICIENCY(HP:0005387), SOMATIC MOSAICISM(HP:0001442), RECURRENT BACTERIAL, VIRAL, AND FUNGAL INFECTIONS(HP:0005388), SINUSITIS(HP:0000246), SEVERE COMBINED IMMUNODEFICIENCY(HP:0004430), LATE ONSET(HP:0003584)]
103	ADAR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERPIGMENTED/HYPOPIGMENTED MACULES(HP:0007441), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579)]
158	ADSL	[GAIT ATAXIA(HP:0002066), POOR EYE CONTACT(HP:0000817), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROMINENT METOPIC SUTURE(HP:0005487), WIDE MOUTH(HP:0000154), OPISTHOTONUS(HP:0002179), BRISK REFLEXES(HP:0001348), CEREBRAL ATROPHY(HP:0002059), NASAL HYPOPLASIA(HP:0003196), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), HYPOMYELINATION(HP:0003429), FLAT PHILTRUM(HP:0000319), MENTAL RETARDATION, MILD(HP:0001256), GROWTH RETARDATION(HP:0001510), ONSET IN INFANCY(HP:0003576), CEREBELLAR ATROPHY(HP:0001272), INAPPROPRIATE LAUGHTER(HP:0000748), ENCEPHALOPATHY(HP:0001298), SELF-MUTILATION(HP:0000742), NARES, ANTEVERTED(HP:0000463), THIN UPPER LIP(HP:0000219), HYPERACTIVITY(HP:0000752), NYSTAGMUS(HP:0000639), INABILITY TO WALK(HP:0002540), MYOCLONUS(HP:0001336), AUTISM(HP:0000717), LOW-SET EARS(HP:0000369), METABOLISM ABNORMALITY(HP:0001939), AGGRESSIVE BEHAVIOR(HP:0000718), MICROCEPHALY(HP:0000252), INTEROSSEUS MUSCLE ATROPHY(HP:0007181), BRACHYCEPHALY(HP:0000248), STRABISMUS(HP:0000486), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
174	AFP	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TELANGIECTASIA(HP:0001009), ATAXIA(HP:0001251), METABOLISM ABNORMALITY(HP:0001939), HEPATOCELLULAR CARCINOMA(HP:0001402), SPINA BIFIDA(HP:0002414), TERATOMA(HP:0009792), OMPHALOCELE(HP:0001539), CONGENITAL NEPHROSIS(HP:0008677)]
175	AGA	[DELAYED SKELETAL MATURATION(HP:0002750), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BROAD FACE(HP:0000283), COARSE FACIAL FEATURES(HP:0000280), HYPOPLASTIC FRONTAL SINUSES(HP:0002738), MITRAL REGURGITATION(HP:0001653), HOARSE VOICE(HP:0001609), CATARACT(HP:0000518), RECURRENT INFECTIONS(HP:0002719), NEUTROPENIA(HP:0001875), JOINT LAXITY(HP:0001388), SPONDYLOLISTHESIS(HP:0003302), MACROORCHIDISM(HP:0000053), SPONDYLOLYSIS(HP:0003304), KYPHOSIS(HP:0002808), HEPATOMEGALY(HP:0002240), MENTAL DETERIORATION IN CHILDHOOD(HP:0006854), ANGIOKERATOMA CORPORIS DIFFUSUM(HP:0001071), ACNE(HP:0001061), PATHOLOGIC FRACTURE(HP:0002756), WIDE MOUTH(HP:0000154), DYSOSTOSIS MULTIPLEX(HP:0000943), MACROGLOSSIA(HP:0000158), CEREBRAL ATROPHY(HP:0002059), FULL LIPS(HP:0000170), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DIARRHEA(HP:0002014), LOW NASAL BRIDGE(HP:0000428), SPASTIC DIPLEGIA(HP:0001264), DECREASED BODY HEIGHT(HP:0004322), THICKENED CALVARIA(HP:0002684), NARES, ANTEVERTED(HP:0000463), SPEECH DELAY(HP:0002117), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), FLATTENING AND ANTERIOR BEAKING OF VERTEBRAL BODIES(HP:0004569), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), VACUOLATED LYMPHOCYTES(HP:0001922), BRACHYCEPHALY(HP:0000248)]
176	ACAN	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), GENU VALGUM(HP:0002857), PLATYSPONDYLY(HP:0000926), FLAT CAPITAL FEMORAL EPIPHYSES(HP:0003370), SHORT STATURE, PROPORTIONATE(HP:0003499), SPONDYLOEPIPHYSEAL DYSPLASIA(HP:0002655), GENU VARUM(HP:0002970)]
178	AGL	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), DISTAL AMYOTROPHY(HP:0003693), MYOPATHY(HP:0003198), HEPATIC FIBROSIS(HP:0001395), BROAD UPTURNED NASAL TIP(HP:0004501), FLATTENED NASAL BRIDGE(HP:0000425), VENTRICULAR HYPERTROPHY ON ECG(HP:0005167), DECREASED BODY HEIGHT(HP:0004322), HYPERLIPIDEMIA(HP:0003077), HEPATOMEGALY(HP:0002240), HYPOGLYCEMIA(HP:0001943), THIN VERMILLION BORDER(HP:0000233), MUSCLE WEAKNESS(HP:0001324), INCREASED SERUM CREATINE KINASE(HP:0002147), DEEP SET EYES(HP:0000490), ELEVATED TRANSAMINASES(HP:0002910)]
182	JAG1	[AXENFELD ANOMALY(HP:0001492), INTRAHEPATIC DUCT DEFICIENCY(HP:0006571), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), BUTTERFLY VERTEBRAL ARCH(HP:0004617), TETRALOGY OF FALLOT(HP:0001636), SHORT ULNA(HP:0002998), HEPATOCELLULAR CARCINOMA(HP:0001402), CHOLESTASIS(HP:0001396), LONG NOSE(HP:0003189), MENTAL RETARDATION, MILD(HP:0001256), CHORIORETINAL ATROPHY(HP:0000533), FAILURE TO THRIVE(HP:0001508), ABNORMALITY OF THE RIBS(HP:0000772), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), MEDULLARY CYSTIC DISEASE(HP:0005569), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), PROMINENT EYES(HP:0000536), BROAD FOREHEAD(HP:0000337), PREAURICULAR SINUS(HP:0004467), POSTERIOR EMBRYOTOXON(HP:0000627), TRIANGULAR FACIES(HP:0000325), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), HEMIVERTEBRAE(HP:0002937), RETINAL PIGMENT CLUMPING(HP:0007821), RENAL DYSPLASIA(HP:0000110), LEARNING DISABILITY(HP:0001328), PAPILLARY THYROID CARCINOMA(HP:0002895), HYPERCHOLESTEROLEMIA(HP:0003124), ABNORMALITY OF THE ANTERIOR CHAMBER(HP:0000593), COARCTATION OF AORTA(HP:0001680), DEEP SET EYES(HP:0000490), PERIPHERAL PULMONARY ARTERY STENOSIS(HP:0004969), ABSENT DEEP TENDON REFLEXES(HP:0001314), STRABISMUS(HP:0000486), HYPERTRIGLYCERIDEMIA(HP:0002155), ELEVATED TRANSAMINASES(HP:0002910)]
183	AGT	[HYPOTENSION(HP:0002615), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE URINARY TRACT(HP:0000079), POTTER FACIES(HP:0002009), MICROCEPHALY(HP:0000252), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), OLIGOHYDRAMNIOS(HP:0001562), PULMONARY HYPOPLASIA(HP:0002089), RESPIRATORY INSUFFICIENCY(HP:0002093)]
185	AGTR1	[MULTIFACTORIAL(HP:0001426), HYPOTENSION(HP:0002615), ELEVATED DIASTOLIC BLOOD PRESSURE(HP:0005117), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), POTTER FACIES(HP:0002009), ABNORMALITY OF THE URINARY TRACT(HP:0000079), ELEVATED SYSTOLIC BLOOD PRESSURE(HP:0004421), MICROCEPHALY(HP:0000252), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), OLIGOHYDRAMNIOS(HP:0001562), PULMONARY HYPOPLASIA(HP:0002089), ELEVATED MEAN ARTERIAL PRESSURE(HP:0004972), RESPIRATORY INSUFFICIENCY(HP:0002093)]
189	AGXT	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPEROXALURIA(HP:0003159), DEATH IN CHILDHOOD(HP:0003819), HEMATURIA(HP:0000790), CALCIUM OXALATE UROLITHIASIS(HP:0008700), OPTIC ATROPHY(HP:0000648), OSTEOSCLEROSIS(HP:0010738), OPTIC NEUROPATHY(HP:0001138), LIVEDO RETICULARIS(HP:0001037), CALCINOSIS(HP:0003761), PERIPHERAL NEUROPATHY(HP:0009830), ABNORMAL URINARY AMINO-ACID FINDINGS(HP:0003355), RENAL FAILURE(HP:0000083), PERIPHERAL VASCULAR INSUFFICIENCY(HP:0005309), METABOLIC ACIDOSIS(HP:0001942), HEART BLOCK(HP:0001668), IMPAIRED VISION(HP:0000505), BONE PAIN(HP:0002653), ACROCYANOSIS(HP:0001063), RETINOPATHY(HP:0000488), INTERMITTENT CLAUDICATION(HP:0004417), PATHOLOGIC FRACTURE(HP:0002756), NEPHROCALCINOSIS(HP:0000121)]
190	NR0B1	[DELAYED PUBERTY(HP:0000823), HYPERPIGMENTATION(HP:0000953), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRYPTORCHIDISM(HP:0000028), MUSCULAR DYSTROPHY(HP:0003560), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), FAILURE TO THRIVE(HP:0001508), MINERALOCORTICOID INSUFFICIENCY(HP:0008190), ABSENCE OF PUBERTAL DEVELOPMENT(HP:0008197), LOW GONADOTROPINS (SECONDARY HYPOGONADISM)(HP:0003335), X-LINKED RECESSIVE INHERITANCE(HP:0001419), GLUCOCORTICOID INSUFFICIENCY(HP:0000874), CONTIGUOUS GENE SYNDROME(HP:0001466), DEHYDRATION(HP:0001944), ADRENAL HYPOPLASIA(HP:0000835), HYPONATREMIA(HP:0002902), RENAL SALT WASTING(HP:0000127), ADRENAL INSUFFICIENCY(HP:0000846), LATE ONSET(HP:0003584), PRIMARY ADRENOCORTICAL FAILURE(HP:0008252)]
191	AHCY	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), HAIR ABNORMALITY(HP:0001595), PSYCHOMOTOR RETARDATION(HP:0001255), ABNORMALITY OF THE TEETH(HP:0000164), HYPERMETHIONINEMIA(HP:0003235), FAILURE TO THRIVE(HP:0001508), FACIAL DYSMORPHISM(HP:0001999)]
203	AK1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEMOLYTIC ANEMIA(HP:0001878)]
204	AK2	[LEUKOPENIA(HP:0001882), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABSENT CELLULAR IMMUNITY(HP:0005354), CONGENITAL AGRANULOCYTOSIS(HP:0005541), LYMPHOPENIA(HP:0001888), ABNORMALITY OF THE THYMUS(HP:0000777)]
207	AKT1	[MULTIFACTORIAL(HP:0001426), HETEROGENEOUS(HP:0001425), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RENAL CELL CARCINOMA(HP:0005584), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), BREAST CANCER(HP:0003002)]
208	AKT2	[NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), INSULIN RESISTANCE(HP:0000855), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LATE ONSET(HP:0003584)]
210	ALAD	[NEUROPATHY(HP:0003407), RESPIRATORY PARALYSIS(HP:0002203), ELEVATED URINARY DELTA-AMINOLEVULINIC ACID(HP:0003163), PARESTHESIA(HP:0003401), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PARALYSIS(HP:0003470), MUSCULAR HYPOTONIA(HP:0001252), HEMOLYTIC ANEMIA(HP:0001878), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508)]
212	ALAS2	[MACROCYTIC ANEMIA(HP:0001972), INEFFECTIVE ERYTHROPOIESIS(HP:0005553), HYPOCHROMIC, MICROCYTIC ANEMIA(HP:0004840), SIDEROBLASTIC ANEMIA(HP:0001924), VARIABLE SEVERITY(HP:0003814), HYPOCHOLESTEROLEMIA(HP:0003146), X-LINKED INHERITANCE(HP:0001417), HYPOCHROMIC ANEMIA(HP:0001931)]
215	ABCD1	[HYPERPIGMENTATION(HP:0000953), HYPOGONADISM(HP:0000135), SPHINCTER DISTURBANCE(HP:0000018), IMPOTENCE(HP:0000802), SLURRED SPEECH(HP:0001350), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), SPASTIC PARAPLEGIA(HP:0001258), POLYNEUROPATHY(HP:0001271), ELEVATED LONG CHAIN FATTY ACIDS(HP:0003455), BLINDNESS(HP:0000618), PRIMARY ADRENAL INSUFFICIENCY(HP:0008207), X-LINKED INHERITANCE(HP:0001417), LIMB AND TRUNCAL ATAXIA(HP:0007014), HEARING LOSS(HP:0000365)]
216	ALDH1A1	[FACIAL FLUSHING AFTER ALCOHOL INTAKE(HP:0001033), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DELAYED OXIDATION OF ACETALDEHYDE(HP:0003533)]
217	ALDH2	[FACIAL FLUSHING AFTER ALCOHOL INTAKE(HP:0001033), MITOCHONDRIAL INHERITANCE(HP:0001427), DELAYED OXIDATION OF ACETALDEHYDE(HP:0003533)]
224	ALDH3A2	[ABNORMALITY OF THE FEET(HP:0001760), ICHTHYOSIS(HP:0000955), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), SPASTICITY(HP:0001257), ONSET AT BIRTH(HP:0003577), ABNORMALITY OF THE HAND(HP:0001155), MACULAR DEGENERATION(HP:0000608), PHOTOPHOBIA(HP:0000613), DECREASED BODY HEIGHT(HP:0004322), DEMYELINATION IN CENTRAL WHITE MATTER(HP:0007222), ABNORMALITY OF THE NAILS(HP:0001597), HAIR ABNORMALITY(HP:0001595), CONGENITAL ICHTHYOSIS(HP:0007484), THORACIC KYPHOSIS(HP:0002942), METABOLISM ABNORMALITY(HP:0001939), SUPERFICIAL CORNEAL OPACITIES(HP:0007727)]
226	ALDOA	[DELAYED PUBERTY(HP:0000823), JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), NORMOCYTIC ANEMIA(HP:0001897), NORMOCHROMIC ANEMIA(HP:0001895), MENTAL RETARDATION(HP:0001249), SPLENOMEGALY(HP:0001744), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0004824), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), LOW POSTERIOR HAIRLINE(HP:0002162), CHOLECYSTITIS(HP:0001082), CHOLELITHIASIS(HP:0001081)]
229	ALDOB	[JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FRUCTOSE INTOLERANCE(HP:0005973), HYPERURICOSURIA(HP:0003149), PROXIMAL RENAL TUBULAR ACIDOSIS(HP:0002049), NAUSEA(HP:0002018), TRANSIENT AMINOACIDURIA(HP:0008273), MALNUTRITION(HP:0004395), ABDOMINAL PAIN(HP:0002027), LETHARGY(HP:0001254), SEIZURES(HP:0001250), GASTROINTESTINAL HEMORRHAGE(HP:0002239), HEPATIC STEATOSIS(HP:0001397), COMA(HP:0001259), CIRRHOSIS(HP:0001394), ABNORMALITY OF THE TEETH(HP:0000164), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), BICARBONATURIA(HP:0003646), HETEROGENEOUS(HP:0001425), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), GLYCOSURIA(HP:0003076), HEPATOMEGALY(HP:0002240), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), HYPOPHOSPHATEMIA(HP:0002148), HYPERURICEMIA(HP:0002149), HYPERBILIRUBINEMIA(HP:0002904), HYPERPHOSPHATURIA(HP:0003109)]
242	ALOX12B	[MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA(HP:0007431), PARALYSIS(HP:0003470), GROWTH RETARDATION(HP:0001510), HAIR ABNORMALITY(HP:0001595), GENITAL HYPOPLASIA(HP:0003241), CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA(HP:0007479)]
249	ALPL	[RICKETS(HP:0002748), ABNORMALITY OF THE FEET(HP:0001760), OSTEOMALACIA(HP:0002749), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LOW ALKALINE PHOSPHATASE(HP:0003282), ANOREXIA(HP:0002039), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PREMATURE DECIDUOUS TOOTH LOSS(HP:0006323), MICROMELIA(HP:0002983), CRANIOSTENOSIS(HP:0001365), CONSTIPATION(HP:0002019), ANEMIA(HP:0001903), CHONDROCALCINOSIS(HP:0000934), STILLBORN OR DEATH IN INFANCY(HP:0003823), DOLICHOCEPHALY(HP:0000268), POORLY OSSIFIED CALVARIA(HP:0005474), PLATYSPONDYLY(HP:0000926), ABNORMALITY OF THE VOICE(HP:0001608), VERTEBRAL CLEFTS(HP:0008428), MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), FRONTAL BOSSING(HP:0002007), APNEA(HP:0002104), PROPTOSIS(HP:0000520), SEVERE DENTAL CARIES(HP:0006295), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), STILLBIRTH(HP:0001624), SHORT RIBS(HP:0000773), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), RACHITIC ROSARY(HP:0000897), BOWED, SHORT LOWER EXTREMITIES(HP:0006428), UNOSSIFIED VERTEBRAL BODIES(HP:0004606), SHORT, BOWED LIMBS(HP:0003054), SKIN DIMPLE OVER APEX OF LONG BONE ANGULATION(HP:0001024), IRRITABILITY(HP:0000737), HYPERCALCEMIA(HP:0003072), WADDLING GAIT(HP:0002515), ELEVATED PLASMA AND URINE INORGANIC PYROPHOSPHATE (PPI)(HP:0003491), METAPHYSEAL CUPPING(HP:0003021), PREMATURE LOSS OF SECONDARY TEETH(HP:0006357), INTRACRANIAL HEMORRHAGE(HP:0002170), FEVER(HP:0001945), HYPERCALCIURIA(HP:0002150), BLUE SCLERAE(HP:0000592), SHORT LIMB DWARFISM(HP:0003505), PREMATURE LOSS OF PRIMARY TEETH(HP:0006351), POLYHYDRAMNIOS(HP:0001561), PHOSPHOETHANOLAMINURIA(HP:0003239), RECURRENT FRACTURES(HP:0002757), PATHOLOGIC FRACTURE(HP:0002756), NEPHROCALCINOSIS(HP:0000121)]
257	ALX3	[HYPOPLASTIC FRONTAL SINUSES(HP:0002738), EPICANTHUS(HP:0000286), TETRALOGY OF FALLOT(HP:0001636), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), HYPERTELORISM(HP:0000316), WIDOW'S PEAK(HP:0000349), CENTRAL INCISOR GAP(HP:0001570), HYPOPLASIA OF THE MAXILLA(HP:0000327), MUSCLE HYPOPLASIA(HP:0009004), LOW-SET EARS(HP:0000369), COLOBOMA(HP:0000589), CRANIUM BIFIDUM OCCULTUM(HP:0004423), CAMPTODACTYLY (HANDS)(HP:0010563), HEARING LOSS, CONDUCTIVE(HP:0000405), LIPOMA OF CORPUS CALLOSUM(HP:0006931), FRONTAL CUTANEOUS LIPOMA(HP:0007541), PREAURICULAR SKIN TAG(HP:0000384), COLUMELLA, SHORT(HP:0002000), MENTAL RETARDATION(HP:0001249), MEDIAN CLEFT LIP(HP:0000161), BROAD NASAL ROOT(HP:0000424), BROAD NASAL BRIDGE(HP:0000431), AGENESIS OF CORPUS CALLOSUM(HP:0001274), BROAD NOTCHED NASAL TIP(HP:0005282), CLINODACTYLY OF HANDS(HP:0001157), BRACHYDACTYLY(HP:0001156), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), ANTERIOR BASAL ENCEPHALOCELE(HP:0006992), BIFID NASAL TIP(HP:0000456), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), PECTORAL MUSCLE HYPOPLASIA/APLASIA(HP:0005258), MEDIAN CLEFT PALATE(HP:0009099)]
259	AMBP	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RENAL TUBULAR DYSFUNCTION(HP:0000124)]
265	AMELX	[AMELOGENESIS IMPERFECTA, HYPOPLASTIC(HP:0006331), METABOLISM ABNORMALITY(HP:0001939), X-LINKED DOMINANT INHERITANCE(HP:0001423), MICRODONTIA(HP:0000691)]
266	AMELY	[Y-LINKED INHERITANCE(HP:0001450), ABNORMALITY OF THE TEETH(HP:0000164)]
268	AMH	[METABOLISM ABNORMALITY(HP:0001939), BILATERAL CRYPTORCHIDISM(HP:0008689), INGUINAL HERNIA(HP:0000023)]
269	AMHR2	[METABOLISM ABNORMALITY(HP:0001939), BILATERAL CRYPTORCHIDISM(HP:0008689), INGUINAL HERNIA(HP:0000023)]
270	AMPD1	[MYOPATHY(HP:0003198), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MUSCLE WEAKNESS(HP:0001324), NEONATAL HYPOTONIA(HP:0001319)]
274	BIN1	[MUSCLE WEAKNESS, PREDOMINANTLY PROXIMAL(HP:0009075), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACIAL MUSCLE WEAKNESS(HP:0010628), GENERALIZED AMYOTROPHY(HP:0003700), DISTAL MUSCLE WEAKNESS(HP:0002460), FEEDING DIFFICULTIES(HP:0002022), VARIABLE AGE AT ONSET(HP:0003618), CENTRALIZED NUCLEI(HP:0003687), AREFLEXIA(HP:0001284), PTOSIS(HP:0000508), SCOLIOSIS(HP:0002650), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), OPHTHALMOPLEGIA(HP:0000602), NEONATAL HYPOTONIA(HP:0001319)]
275	AMT	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IRRITABILITY(HP:0000737), HYPERACTIVITY(HP:0000752), HYPERREFLEXIA(HP:0001347), LETHARGY(HP:0001254), MYOCLONUS(HP:0001336), MUSCULAR HYPOTONIA(HP:0001252), NONKETOTIC HYPERGLYCINEMIA(HP:0008288), SEIZURES(HP:0001250), DEATH IN INFANCY(HP:0001522), MENTAL RETARDATION(HP:0001249), AGGRESSIVE BEHAVIOR(HP:0000718), RESTLESSNESS(HP:0000711), HYPOREFLEXIA(HP:0001265), AGENESIS OF CORPUS CALLOSUM(HP:0001274), HYPERGLYCINURIA(HP:0003108)]
282	ANCR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MICROCEPHALY, POSTNATAL(HP:0005484), HYPERREFLEXIA(HP:0001347), OCCIPITAL PLAGIOCEPHALY(HP:0005469), ABSENT SPEECH(HP:0001617), MILD CORTICAL ATROPHY ON CT OR MRI(HP:0006823), BLOND HAIR(HP:0002214), MANDIBULAR PROGNATHIA(HP:0000303), MICROBRACHYCEPHALY(HP:0002258), HYPOPLASIA OF THE MAXILLA(HP:0000327), BLUE IRIDES(HP:0000635), NYSTAGMUS(HP:0000639), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), WIDELY SPACED TEETH(HP:0000687), CLUMSINESS(HP:0002312), CONSTIPATION(HP:0002019), MACROGLOSSIA(HP:0000158), FEEDING DIFFICULTIES(HP:0002022), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), EEG ABNORMALITIES(HP:0002353), PROGRESSIVE GAIT ATAXIA(HP:0007240), OBESITY(HP:0001513), MACROSTOMIA(HP:0000181), SLEEP-WAKE CYCLE DISTURBANCE(HP:0006979), PAROXYSMAL BURSTS OF LAUGHTER(HP:0000749), DELAYED MOTOR MILESTONES(HP:0002130), HYPOPIGMENTATION OF THE SKIN(HP:0001010), BROAD-BASED GAIT(HP:0002136), HYPERACTIVITY(HP:0000752), ISOLATED CASES(HP:0001420), SCOLIOSIS(HP:0002650), DEEP SET EYES(HP:0000490), STRABISMUS(HP:0000486)]
286	ANK1	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SPHEROCYTOSIS(HP:0004444), HEMOLYTIC ANEMIA(HP:0001878), SPLENOMEGALY(HP:0001744), CHOLELITHIASIS(HP:0001081), RETICULOCYTOSIS(HP:0001923), HYPERBILIRUBINEMIA(HP:0002904)]
287	ANK2	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), ATRIAL FIBRILLATION(HP:0005110), PROLONGED QT INTERVAL ON EKG(HP:0001657), SYNCOPE(HP:0001279), SINUS BRADYCARDIA(HP:0001688)]
291	SLC25A4	[HYPOKINESIA(HP:0002375), HETEROGENEOUS(HP:0001425), SUDDEN DEATH(HP:0001699), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGESTIVE HEART FAILURE(HP:0001635), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), FACIAL MUSCLE WEAKNESS(HP:0010628), HEARING LOSS, SENSORINEURAL(HP:0000407), RAGGED-RED MUSCLE FIBERS(HP:0003200), MUSCLE BIOPSY SHOWS DECREASED ACTIVITY OF CYTOCHROME C OXIDASE(HP:0003688), MUSCLE BIOPSY SHOWS MULTIPLE MITOCHONDRIAL DNA (MTDNA) DELETIONS(HP:0003689), ELECTRON MICROSCOPY SHOWS SUBSARCOLEMMAL ACCUMULATIONS OF ABNORMALLY SHAPED MITOCHONDRIA(HP:0003548), EXERCISE INTOLERANCE(HP:0003546), PTOSIS(HP:0000508), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), METABOLISM ABNORMALITY(HP:0001939), PROGRESSIVE DISORDER(HP:0003676), GENERALIZED MUSCLE WEAKNESS(HP:0003324), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), EXTERNAL OPHTHALMOPLEGIA, PROGRESSIVE (PEO)(HP:0000590), SUBAORTIC STENOSIS(HP:0001682), ONSET IN ADULTHOOD(HP:0003581)]
324	APC	[TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), MULTIPLE ADENOMATOUS COLON POLYPS(HP:0005227), CONGENITAL HYPERTROPHY OF RETINAL PIGMENT EPITHELIUM(HP:0007649), KELOIDS(HP:0010562), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCREASED SKIN PIGMENTATION(HP:0007527), LIPOMAS(HP:0001012), SUPERNUMERARY TEETH(HP:0000672), SMALL INTESTINE CARCINOID(HP:0006722), COLON CANCER(HP:0003003), MULTIPLE GASTRIC POLYPS(HP:0004394), MULTIPLE DUODENAL POLYPS(HP:0004783), CHRONIC ATROPHIC GASTRITIS(HP:0002582), HEPATOBLASTOMA(HP:0002884), RENAL CELL CARCINOMA(HP:0005584), ASTROCYTOMA(HP:0009592), MEDULLOBLASTOMA(HP:0002885), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), UNERUPTED TEETH(HP:0000706), ADRENAL CARCINOMA(HP:0002889), PAPILLARY THYROID CARCINOMA(HP:0002895), CARIOUS TEETH(HP:0000670), ABNORMALITY OF THE BREASTS(HP:0000769)]
326	AIRE	[KERATOCONJUNCTIVITIS(HP:0001096), DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPARATHYROIDISM(HP:0000829), HYPOGONADISM, FEMALE(HP:0000134), ANEMIA(HP:0001903), CHRONIC MUCOCUTANEOUS CANDIDIASIS(HP:0002728), MALABSORPTION(HP:0002024), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CHRONIC ATROPHIC GASTRITIS(HP:0002582), DIARRHEA(HP:0002014), ASPLENIA(HP:0001746), HYPOALDOSTERONISM, TRANSIENT, ISOLATED(HP:0008184), ONSET IN CHILDHOOD(HP:0003578), ALOPECIA(HP:0001596), VITILIGO(HP:0001045), ADDISON DISEASE(HP:0000862), CHOLELITHIASIS(HP:0001081), ADRENAL INSUFFICIENCY(HP:0000846), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
335	APOA1	[HYPERTENSION(HP:0000822), RENAL AMYLOIDOSIS(HP:0001917), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGESTIVE HEART FAILURE(HP:0001635), PEPTIC ULCER(HP:0004398), HEMATURIA(HP:0000790), CORNEAL CLOUDING(HP:0000515), CHOLESTASIS(HP:0001396), SPLENOMEGALY(HP:0001744), POLYNEUROPATHY(HP:0001271), GENERALIZED AMYLOID DEPOSITION(HP:0003216), CORONARY ATHEROSCLEROSIS(HP:0004929), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), HEPATOMEGALY(HP:0002240), NEPHROTIC SYNDROME(HP:0000100), SKIN RASH(HP:0000988), EDEMA(HP:0000969), NEPHROPATHY(HP:0000112)]
336	APOA2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), XANTHELASMA(HP:0001114), HYPERCHOLESTEROLEMIA(HP:0003124), CORNEAL ARCUS(HP:0001084), CORONARY ARTERY DISEASE PRESENTING AFTER AGE 30 YEARS IN HETEROZYGOTES, IN CHILDHOOD IN HOMOZYGOTES(HP:0005138)]
337	APOA4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
338	APOB	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), XANTHELASMA(HP:0001114), INCREASED LDL CHOLESTEROL(HP:0008343), RETINITIS PIGMENTOSA(HP:0000510), ATAXIA(HP:0001251), CORONARY ARTERY DISEASE(HP:0001677), HYPOBETALIPOPROTEINEMIA(HP:0003563), HYPERCHOLESTEROLEMIA(HP:0003124), RED CELL ACANTHOCYTOSIS(HP:0001927), FAT MALABSORPTION(HP:0002630), CORNEAL ARCUS(HP:0001084), WEAK OR ABSENT DEEP TENDON REFLEXES(HP:0001316)]
344	APOC2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ERUPTIVE XANTHOMAS(HP:0001013), HEPATOMEGALY(HP:0002240), PANCREATITIS(HP:0001733), SPLENOMEGALY(HP:0001744), LIPEMIA RETINALIS(HP:0000660), HYPERTRIGLYCERIDEMIA(HP:0002155)]
348	APOE	[HYPOTHYROIDISM(HP:0000821), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD THROMBOCYTOPENIA(HP:0001906), NEUROFIBRILLARY TANGLES(HP:0002185), CIRRHOSIS(HP:0001394), SPLENOMEGALY(HP:0001744), ABSENT AXILLARY HAIR(HP:0002221), OBESITY(HP:0001513), ALZHEIMER DISEASE(HP:0002511), ABNORMALITY OF THE EYES(HP:0000478), MILD HYPERTRIGLYCERIDEMIA(HP:0008332), PARKINSONISM(HP:0001300), PREMATURE PERIPHERAL VASCULAR DISEASE(HP:0005299), ABNORMAL GLUCOSE TOLERANCE(HP:0001952), SPORADIC(HP:0003745), HYPERLIPIDEMIA(HP:0003077), XANTHOMATOSIS(HP:0000991), NEUROFIBRILLARY TANGLES COMPOSED OF DISORDERED MICROTUBULES IN NEURONS(HP:0003132), LONG-TRACT SIGNS(HP:0002423), ANGINA PECTORIS(HP:0001681), LATE ONSET(HP:0003584), DEMENTIA(HP:0000726)]
351	APP	[ALZHEIMER DISEASE(HP:0002511), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), STROKE(HP:0001297), DEMENTIA, PROGRESSIVE, WITH ONSET OF DISEASE(HP:0007283), PARKINSONISM(HP:0001300), NEUROFIBRILLARY TANGLES(HP:0002185), TORTUOUS CEREBRAL ARTERIES(HP:0004938), LONG-TRACT SIGNS(HP:0002423), RECURRENT CEREBRAL AND CEREBELLAR HEMORRHAGE(HP:0004968), CEREBRAL ISCHEMIA(HP:0002637)]
353	APRT	[ABNORMALITY OF THE URETERS(HP:0000069), METABOLISM ABNORMALITY(HP:0001939), RENAL FAILURE(HP:0000083), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
355	FAS	[INCREASED PROPORTION OF HLA DR+ AND CD57+ T CELLS(HP:0002853), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCREASED NUMBER OF CD4-/CD8- T CELLS EXPRESSING ALPHA/BETA T-CELL RECEPTORS(HP:0002851), AUTOIMMUNE NEUTROPENIA(HP:0001904), DEFECTIVE LYMPHOCYTE APOPTOSIS(HP:0002731), DIRECT COOMBS POSITIVE(HP:0003539), CHRONIC NONINFECTIOUS LYMPHADENOPATHY(HP:0002730), LYMPH NODES SHOW FLORID REACTIVE FOLLICULAR HYPERPLASIA AND MARKED PARACORTICAL EXPANSION WITH IMMUNOBLASTS AND PLASMA CELLS(HP:0002729), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), IRON DEFICIENCY ANEMIA(HP:0001891), EOSINOPHILIA(HP:0001880), SPLENOMEGALY(HP:0001744), NEUTROPHIL ANTIBODY POSITIVE(HP:0003453), REDUCED DELAYED HYPERSENSITIVITY(HP:0002972), PLATELET ANTIBODY POSITIVE(HP:0003454), INCREASED NUMBER OF PERIPHERAL CD3+ T CELLS(HP:0002845), IMMUNE THROMBOCYTOPENIA(HP:0001973), URTICARIA(HP:0001025), RHEUMATOID FACTOR POSITIVE(HP:0002923), HEPATOMEGALY(HP:0002240), PHOSPHOLIPID ANTIBODY POSITIVE(HP:0003613), ANTINUCLEAR ANTIBODY POSITIVE(HP:0003493), INCREASED IGM LEVEL(HP:0003496), SMOOTH MUSCLE ANTIBODY POSITIVE(HP:0003262), INCREASED IGA LEVEL(HP:0003261), INCREASED IGG LEVEL(HP:0003237), VASCULITIS(HP:0002633)]
359	AQP2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONSTIPATION(HP:0002019), FEEDING DIFFICULTIES(HP:0002022), SEIZURES(HP:0001250), VOMITING(HP:0002013), HYPERTONIC DEHYDRATION(HP:0001986), FAILURE TO THRIVE(HP:0001508), LOWER URINARY TRACT DILATATION MAY OCCUR OVER TIME(HP:0002838), MENTAL RETARDATION CAN OCCUR IN PATIENTS WITH REPEATED EPISODES OF DEHYDRATION(HP:0002482), HETEROGENEOUS(HP:0001425), IRRITABILITY(HP:0000737), HYPERNATREMIA(HP:0003228), DECREASED BODY HEIGHT(HP:0004322), POLYDIPSIA(HP:0001959), UNEXPLAINED FEVERS(HP:0001955), ONSET IN FIRST WEEKS OF LIFE(HP:0003622), DIABETES INSIPIDUS(HP:0000873), POLYURIA(HP:0000103)]
367	AR	[NEUROPATHY(HP:0003407), WEAKNESS(HP:0002309), CALF HYPERTROPHY(HP:0003703), MUSCLE CRAMPS(HP:0003394), HYPOGONADISM(HP:0000135), ABNORMALITY OF THE MOUTH(HP:0000153), INGUINAL HERNIA(HP:0000023), AZOOSPERMIA(HP:0000027), TESTICULAR ATROPHY(HP:0000029), CRYPTORCHIDISM(HP:0000028), ABSENT UTERUS(HP:0000151), ABNORMALITY OF THE VOICE(HP:0001608), INFERTILITY(HP:0000789), SPARSE TO ABSENT PUBIC HAIR(HP:0004778), SLOW PROGRESSION(HP:0003677), PRIMARY AMENORRHEA(HP:0000786), MALE PSEUDOHERMAPHRODITISM(HP:0000037), OLIGOSPERMIA(HP:0000798), GENERALIZED MUSCLE WEAKNESS(HP:0003324), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), PERINEAL HYPOSPADIAS(HP:0000051), BIFID SCROTUM(HP:0000048), MICROPENIS(HP:0000054), GYNECOMASTIA(HP:0000771), GROWTH ABNORMALITY(HP:0001507), HYPOREFLEXIA(HP:0001265), ONSET IN CHILDHOOD(HP:0003578), FASCICULATIONS(HP:0002380), SENSORY NEUROPATHY(HP:0000763), X-LINKED RECESSIVE INHERITANCE(HP:0001419), BULBAR PALSY(HP:0001283), NEOPLASIA(HP:0002664), TREMOR(HP:0001337), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), ELEVATED FOLLICLE STIMULATING HORMONE(HP:0008232), ABSENT PUBIC AND AXILLARY HAIR(HP:0004556), INTEROSSEUS MUSCLE ATROPHY(HP:0007181), INCREASED SERUM CREATINE KINASE(HP:0002147), ABSENT FACIAL HAIR(HP:0002550), FEMALE EXTERNAL GENITALIA IN MALES(HP:0008730), SPARSE TO ABSENT AXILLARY HAIR(HP:0004545)]
368	ABCC6	[ANGIOID STREAKS(HP:0001102), HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MITRAL VALVE PROLAPSE(HP:0001634), CONGESTIVE HEART FAILURE(HP:0001635), HIGH-ARCHED PALATE(HP:0000156), RETINAL HEMORRHAGE(HP:0000573), GASTROINTESTINAL HEMORRHAGE(HP:0002239), CALCIFICATION OF FALX CEREBRI(HP:0005462), KYPHOSIS(HP:0002808), MACULAR DEGENERATION(HP:0000608), HYPERPIGMENTED MACULES(HP:0001034), STROKE(HP:0001297), MITRAL STENOSIS(HP:0001718), PREMATURE OCCLUSIVE VASCULAR DISEASE(HP:0005297), ABNORMALITY OF THE STERNUM(HP:0000766), RENAL FAILURE(HP:0000083), ACCELERATED ATHEROSCLEROSIS(HP:0004943), RESTRICTIVE CARDIOMYOPATHY(HP:0001723), IMPAIRED VISION(HP:0000505), CEREBRAL HEMORRHAGE(HP:0001342), SCOLIOSIS(HP:0002650), BLUE SCLERAE(HP:0000592), ANGINA PECTORIS(HP:0001681), INTERMITTENT CLAUDICATION(HP:0004417), MEDIAL CALCIFICATION OF MEDIUM-SIZED AND MAJOR ARTERIES(HP:0004966), ARTERIOSCLEROSIS(HP:0002634), CENTRAL SCOTOMA(HP:0000603)]
369	ARAF	[METABOLISM ABNORMALITY(HP:0001939), X-LINKED INHERITANCE(HP:0001417), NEOPLASIA(HP:0002664)]
383	ARG1	[OROTICACIDURIA(HP:0003218), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANOREXIA(HP:0002039), IRRITABILITY(HP:0000737), ORNITHINURIA(HP:0003532), DIAMINOACIDURIA(HP:0008339), HYPERACTIVITY(HP:0000752), CYSTINURIA(HP:0003131), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), PROGRESSIVE SPASTIC QUADRIPLEGIA(HP:0002478), DEVELOPMENTAL RETARDATION(HP:0001263), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), GROWTH FAILURE(HP:0001517), LYSINURIA(HP:0002158)]
401	PHOX2A	[EXOTROPIA(HP:0000577), CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES(HP:0001491), BILATERAL PTOSIS(HP:0001488), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AMBLYOPIA(HP:0000646), RESTRICTIVE OPHTHALMOPLEGIA(HP:0007846), SEVERE LIMITATIONS OF EYE MOVEMENTS(HP:0007959)]
410	ARSA	[NEUROPATHY(HP:0003407), TETRAPLEGIA(HP:0002445), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CHOREA(HP:0002072), URINARY INCONTINENCE(HP:0000020), GALLBLADDER DYSFUNCTION(HP:0005609), HYPERREFLEXIA(HP:0001347), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), DYSARTHRIA(HP:0001260), MENTAL DETERIORATION(HP:0001268), HYPOREFLEXIA(HP:0001265), EMG SHOWS NEUROPATHIC CHANGES(HP:0003445), ONSET IN ADULTHOOD(HP:0003581), SPASTIC TETRAPLEGIA(HP:0002510), DELUSIONS(HP:0000746), HYPOKINESIA(HP:0002375), LOSS OF SPEECH(HP:0002371), HALLUCINATIONS(HP:0000738), INCREASED CSF PROTEIN(HP:0002922), ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), GAIT DISTURBANCE(HP:0001288), PROGRESSIVE PERIPHERAL NEUROPATHY(HP:0007133), BULBAR PALSY(HP:0001283), JUVENILE ONSET(HP:0003621), BABINSKI SIGN(HP:0003487), EMOTIONAL LABILITY(HP:0000712), METABOLISM ABNORMALITY(HP:0001939), DYSTONIA(HP:0001332), CHOLECYSTITIS(HP:0001082), POOR SCHOOL PERFORMANCE(HP:0000730), ONSET IN ADOLESCENCE(HP:0003590), DEMYELINATION(HP:0003381)]
411	ARSB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILDLY COARSE FACIES(HP:0000281), CARDIOMYOPATHY(HP:0001638), MACROCEPHALY(HP:0000256), INGUINAL HERNIA(HP:0000023), ABNORMALITY OF THE HEART VALVES(HP:0001654), DOLICHOCEPHALY(HP:0000268), HYPOPLASTIC ACETABULAE(HP:0003274), CORNEAL CLOUDING(HP:0000515), DERMATAN SULFATE EXCRETION IN URINE(HP:0008301), OVOID VERTEBRAL BODIES(HP:0003300), HIP DYSPLASIA(HP:0001385), JOINT STIFFNESS(HP:0001387), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), BROAD RIBS(HP:0000885), PROMINENT STERNUM(HP:0000884), HEPATOMEGALY(HP:0002240), UMBILICAL HERNIA(HP:0001537), SHORT-TRUNKED DWARFISM(HP:0003500), HEARING LOSS(HP:0000365), CERVICAL MYELOPATHY(HP:0002318), GENU VALGUM(HP:0002857), DYSOSTOSIS MULTIPLEX(HP:0000943), MACROGLOSSIA(HP:0000158), FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740), SPLENOMEGALY(HP:0001744), WIDENED, IRREGULAR METAPHYSES(HP:0005038), SMALL, FLARED ILIAC WINGS(HP:0003181), LOW NASAL BRIDGE(HP:0000428), ANTERIOR WEDGING OF L1 AND L2(HP:0008432), EPIPHYSEAL DYSPLASIA(HP:0002656), ECTRODACTYLY (HANDS)(HP:0001171), HIRSUTISM(HP:0001007), LUMBAR HYPERLORDOSIS(HP:0002938), HYDROCEPHALUS(HP:0000238), GLAUCOMA(HP:0000501)]
412	STS	[ICHTHYOSIS(HP:0000955), CORNEAL OPACITIES ON SLIT-LAMP EXAM(HP:0007896), HYPOGONADISM(HP:0000135), CONGENITAL ICHTHYOSIS(HP:0007484), CORNEAL OPACITIES, NOT IMPAIRING VISUAL ACUITY(HP:0007759), HYPERTROPHIC ICHTHYOSIS, ESP SCALP, EARS, NECK AND FLEXURES(HP:0007547), X-LINKED RECESSIVE INHERITANCE(HP:0001419), NEOPLASIA(HP:0002664), CRYPTORCHIDISM(HP:0000028), METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION(HP:0001249)]
415	ARSE	[ICHTHYOSIS(HP:0000955), HYPOGONADISM(HP:0000135), CATARACT(HP:0000518), NASAL HYPOPLASIA(HP:0003196), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), DEVELOPMENTAL RETARDATION(HP:0001263), FLATTENED NASAL BRIDGE(HP:0000425), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), SHORT NASAL SEPTUM(HP:0000420), DECREASED BODY HEIGHT(HP:0004322), ANOSMIA(HP:0000458), STIPPLING OF THE EPIPHYSES(HP:0010655), X-LINKED RECESSIVE INHERITANCE(HP:0001419), MICROCEPHALY(HP:0000252), HEARING LOSS(HP:0000365)]
427	ASAH1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MENTAL RETARDATION(HP:0001249), CHERRY RED SPOT OF THE MACULA(HP:0010729), HOARSE CRY(HP:0001615), SPLENOMEGALY(HP:0001744), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), JOINT SWELLING(HP:0001386), RESPIRATORY INSUFFICIENCY(HP:0002093), PERIARTICULAR SUBCUTANEOUS NODULES(HP:0007470), IRRITABILITY(HP:0000737), HEPATOMEGALY(HP:0002240), METABOLISM ABNORMALITY(HP:0001939), NEPHROPATHY(HP:0000112)]
429	ASCL1	[ABNORMALITY OF THE MOUTH(HP:0000153), CONGENITAL MEGACOLON(HP:0002251), LOW-SET EARS(HP:0000369), NEUROLOGICAL ABNORMALITY(HP:0000707), POSTERIORLY ROTATED EARS(HP:0000358), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626)]
435	ASL	[PROTEIN AVOIDANCE(HP:0002038), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ARGININE DEFICIENCY(HP:0005961), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), ATAXIA(HP:0001251), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), HEPATIC FIBROSIS(HP:0001395), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508), TRICHORRHEXIS NODOSA(HP:0009886), HIGH PLASMA GLUTAMINE(HP:0003217), IRRITABILITY(HP:0000737), ABNORMAL URINARY AMINO-ACID FINDINGS(HP:0003355), ONSET IN NEONATAL PERIOD(HP:0003623), HEPATOMEGALY(HP:0002240), RESPIRATORY ALKALOSIS(HP:0001950), EPISODIC AMMONIA INTOXICATION(HP:0001951)]
440	ASNS	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
443	ASPA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GENERALIZED SEIZURES(HP:0002197), DEAFNESS(HP:0000404), MACROCEPHALY(HP:0000256), DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476), OPISTHOTONUS(HP:0002179), CEREBRAL ATROPHY(HP:0002059), MUSCULAR HYPOTONIA(HP:0001252), OPTIC ATROPHY(HP:0000648), LOSS OF VERY EARLY MILESTONES(HP:0007242), HYPOKINESIA(HP:0002375), BLINDNESS(HP:0000618), HYPODYSPLASIA OF THE CORPUS CALLOSUM(HP:0006849), NYSTAGMUS(HP:0000639), METABOLISM ABNORMALITY(HP:0001939), DEMYELINATION(HP:0003381)]
445	ASS1	[PROTEIN AVOIDANCE(HP:0002038), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), ATAXIA(HP:0001251), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), CIRRHOSIS(HP:0001394), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508), HIGH PLASMA GLUTAMINE(HP:0003217), IRRITABILITY(HP:0000737), ABNORMAL URINARY AMINO-ACID FINDINGS(HP:0003355), ONSET IN NEONATAL PERIOD(HP:0003623), HEPATOMEGALY(HP:0002240), RESPIRATORY ALKALOSIS(HP:0001950), EPISODIC AMMONIA INTOXICATION(HP:0001951)]
462	SERPINC1	[PULMONARY EMBOLISM(HP:0002204), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ANTITHROMBIN III DEFICIENCY(HP:0001976), ABNORMALITY OF THE ABDOMEN(HP:0001438), THROMBOSIS(HP:0001977), CEREBRAL VENOUS THROMBOSIS(HP:0005305), NEUROLOGICAL ABNORMALITY(HP:0000707), DEEP VENOUS THROMBOSIS(HP:0002625), RECURRENT THROMBOPHLEBITIS(HP:0004419)]
471	ATIC	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951), WIDE MOUTH(HP:0000154), MENTAL RETARDATION, PROFOUND(HP:0002187), CONGENITAL BLINDNESS(HP:0007875), HIGH NASAL BRIDGE(HP:0000442), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), FRONTAL BOSSING(HP:0002007), ATRIAL SEPTAL DEFECT(HP:0001631), CLITOROMEGALY(HP:0000057), FUSED LABIA MINORA(HP:0000063), NARES, ANTEVERTED(HP:0000463), THIN UPPER LIP(HP:0000219), LOW-SET EARS(HP:0000369), METABOLISM ABNORMALITY(HP:0001939), BRACHYCEPHALY(HP:0000248)]
472	ATM	[DELAYED PUBERTY(HP:0000823), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), LYMPHOPENIA(HP:0001888), CONJUNCTIVAL TELANGIECTASIA(HP:0000524), THYMUS HYPOPLASIA(HP:0000778), HAIR ABNORMALITY(HP:0001595), OCULOMOTOR ABNORMALITIES(HP:0006860), NYSTAGMUS(HP:0000639), DECREASED NUMBER OF CD8+ T CELLS(HP:0005415), REDUCED NUMBER OF T CELLS(HP:0005403), GLUCOSE INTOLERANCE(HP:0000833), WEAK OR ABSENT DEEP TENDON REFLEXES(HP:0001316), CAFE-AU-LAIT SPOTS(HP:0000957), IMPAIRED SPERMATOGENESIS(HP:0008669), DEFECTIVE B CELL DIFFERENTIATION(HP:0005357), HYPOGONADISM, FEMALE(HP:0000134), CEREBELLAR ATAXIA(HP:0001253), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), BRONCHIECTASIS(HP:0002110), BRONCHITIS(HP:0002837), CHOREOATHETOSIS(HP:0001266), DECREASED BODY HEIGHT(HP:0004322), REDUCED IGA LEVELS(HP:0008350), REDUCED IGG LEVELS, PARTICULARLY THE IGG2 SUBCLASS(HP:0008348), ELEVATED ALPHA-FETOPROTEIN(HP:0006254), LYMPHOMA(HP:0002665), SINUSITIS(HP:0000246), STRABISMUS(HP:0000486)]
477	ATP1A2	[REDUCED PENETRANCE(HP:0003830), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), TETRAPLEGIA(HP:0002445), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MIGRAINE WITH AURA(HP:0002077), HEARING LOSS, SENSORINEURAL(HP:0000407), VERTIGO(HP:0002321), APRAXIA(HP:0002186), DROWSINESS(HP:0002329), CEREBRAL EDEMA(HP:0002181), CEREBROVASCULAR ACCIDENT(HP:0002452), DIPLOPIA(HP:0000651), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), HEMIANOPIC BLURRING OF VISION(HP:0001125), COMA(HP:0001259), HEMIPARESIS(HP:0001269), DYSPHASIA(HP:0002357), CHOREOATHETOSIS(HP:0001266), HETEROGENEOUS(HP:0001425), APHASIA(HP:0002381), BLURRED VISION(HP:0000622), CONFUSION(HP:0001289), CEREBELLAR ATAXIA DURING EPISODES(HP:0007214), NYSTAGMUS(HP:0000639), HEMIPLEGIA(HP:0002301), DYSTONIA(HP:0001332), FEVER(HP:0001945), COGNITIVE DECLINE, PROGRESSIVE(HP:0007155), QUADRIPLEGIA(HP:0010552)]
478	ATP1A3	[DROOLING(HP:0002307), BRADYKINESIA(HP:0002067), REDUCED PENETRANCE(HP:0003830), HYPOMIMIC FACE(HP:0000338), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TORTICOLLIS(HP:0000473), ANXIETY(HP:0000739), UNSTEADY GAIT(HP:0002317), PARKINSONISM(HP:0001300), EMOTIONAL LABILITY(HP:0000712), MUTISM(HP:0002300), DEPRESSION(HP:0000716), DYSARTHRIA(HP:0001260), POSTURAL INSTABILITY(HP:0002172), DYSTONIA(HP:0001332), DYSPHAGIA(HP:0002015), FEVER(HP:0001945), LATE ONSET(HP:0003584), ONSET IN CHILDHOOD(HP:0003578)]
486	FXYD2	[HYPOMAGNESEMIA(HP:0002917), SEIZURES(HP:0001250), RENAL MAGNESIUM WASTING(HP:0005567), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
487	ATP2A1	[MUSCULAR HYPOTONIA(HP:0001252), METABOLISM ABNORMALITY(HP:0001939), MYALGIA(HP:0003326), MUSCLE CRAMPS(HP:0003394)]
488	ATP2A2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), ABNORMALITY OF THE MOUTH(HP:0000153), SUBUNGUAL HYPERKERATOTIC FRAGMENTS(HP:0008410), AGE OF ONSET(HP:0003674), MACULES(HP:0200031), SEIZURES(HP:0001250), ACROKERATOSIS(HP:0200016), MENTAL RETARDATION, MILD(HP:0001256), PLANTAR PITS(HP:0010612), PALMAR PITS(HP:0010610), DIAPHORESIS(HP:0001064), PRURITUS(HP:0000989), HYPERHIDROSIS(HP:0000975), BIPOLAR AFFECTIVE DISORDER(HP:0007302), LONGITUDINAL RIDGING(HP:0001801)]
501	ALDH7A1	[STATUS EPILEPTICUS(HP:0002133), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SPEECH DELAY(HP:0002117), MYOCLONIC SEIZURES(HP:0002123), RESPIRATORY DISTRESS(HP:0002098), NEONATAL RESPIRATORY DISTRESS(HP:0002643), MUSCULAR HYPOTONIA(HP:0001252), METABOLISM ABNORMALITY(HP:0001939), PRENATAL MOVEMENT ABNORMALITY(HP:0001557), EPILEPSY(HP:0001275)]
525	ATP6V1B1	[KIDNEY STONES(HP:0000787), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RENAL TUBULAR ACIDOSIS(HP:0001947), HEARING LOSS, SENSORINEURAL(HP:0000407)]
538	ATP7A	[BLADDER DIVERTICULA(HP:0000015), DISTAL MUSCLE WEAKNESS(HP:0002460), PELVIC EXOSTOSES(HP:0003276), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178), URETERAL OBSTRUCTION(HP:0006000), JOINT LAXITY(HP:0001388), NARROW CHEST(HP:0000774), PECTUS CARINATUM(HP:0000768), ONSET IN FIRST DECADE(HP:0003582), COARSE HAIR(HP:0002208), LIMITED ELBOW EXTENSION(HP:0001377), SPARSE HAIR(HP:0008070), LOOSE, REDUNDANT SKIN(HP:0001582), LONG PHILTRUM(HP:0000343), KYPHOSIS(HP:0002808), BROAD RIBS(HP:0000885), HIGH FOREHEAD(HP:0000348), PERSISTENT OPEN ANTERIOR FONTANELLE(HP:0004474), SENSORY IMPAIRMENT(HP:0003474), LIMITED KNEE EXTENSION(HP:0003066), SHORT, BROAD CLAVICLES(HP:0006651), LONG, THIN FACE(HP:0000334), LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS(HP:0003483), SHORT HUMERI(HP:0003014), HYDRONEPHROSIS(HP:0000126), MILDLY EXTENSIBLE SKIN(HP:0007578), PES PLANUS(HP:0001763), PES CAVUS(HP:0001761), HIATUS HERNIA(HP:0002036), BLADDER CARCINOMA(HP:0002862), HYPOTHERMIA(HP:0002045), GENU VALGUM(HP:0002857), UNSTEADY GAIT(HP:0002317), HIGH-ARCHED PALATE(HP:0000156), OSTEOPOROSIS(HP:0000939), DISTAL AMYOTROPHY(HP:0003693), SPINAL MUSCULAR ATROPHY(HP:0007269), CHRONIC DIARRHEA(HP:0002028), CAPITATE-HAMATE FUSION(HP:0001241), SLOW PROGRESSION(HP:0003677), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), INTRAUTERINE GROWTH RETARDATION(HP:0001511), HYPOREFLEXIA(HP:0001265), ORTHOSTATIC HYPOTENSION(HP:0001278), HYPERTONIA(HP:0001276), COXA VALGA(HP:0002673), LONG NECK(HP:0000472), EARLY DEATH(HP:0001432), HYPOPIGMENTATION OF THE SKIN(HP:0001010), DECREASED BODY HEIGHT(HP:0004322), PECTUS EXCAVATUM(HP:0000767), ELONGATED, TORTUOUS CAROTID ARTERIES(HP:0005302), X-LINKED RECESSIVE INHERITANCE(HP:0001419), DISTAL SENSORY IMPAIRMENT(HP:0002936), MILD PLATYSPONDYLY(HP:0002940), WORMIAN BONES(HP:0002645), ECCHYMOSES(HP:0000978), SOFT SKIN(HP:0000977), INTRACRANIAL HEMORRHAGE(HP:0002170), MICROCEPHALY(HP:0000252), BRACHYCEPHALY(HP:0000248), METAPHYSEAL WIDENING WITH SPURS(HP:0005088)]
540	ATP7B	[DROOLING(HP:0002307), OSTEOMALACIA(HP:0002749), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPARATHYROIDISM(HP:0000829), ESOPHAGEAL VARICES(HP:0002040), OSTEOPOROSIS(HP:0000939), CHONDROCALCINOSIS(HP:0000934), KIDNEY STONES(HP:0000787), HEPATIC FAILURE(HP:0001399), DYSARTHRIA(HP:0001260), COMA(HP:0001259), HEMOLYTIC ANEMIA(HP:0001878), DYSPHAGIA(HP:0002015), CIRRHOSIS(HP:0001394), POLYNEUROPATHY(HP:0001271), JOINT HYPERMOBILITY(HP:0001382), ABNORMALITY OF THE EYES(HP:0000478), PERSONALITY CHANGES(HP:0000751), PROTEINURIA(HP:0000093), GLYCOSURIA(HP:0003076), HEPATOMEGALY(HP:0002240), TREMOR(HP:0001337), DYSTONIA(HP:0001332), MIXED DEMYELINATING AND AXONAL POLYNEUROPATHY(HP:0007327), HYPERCALCIURIA(HP:0002150), AMINOACIDURIA(HP:0002903), RENAL TUBULAR DYSFUNCTION(HP:0000124), POOR MOTOR COORDINATION(HP:0002275), DEMENTIA(HP:0000726), HYPERPHOSPHATURIA(HP:0003109), OSTEOARTHRITIS(HP:0002758)]
545	ATR	[DELAYED SKELETAL MATURATION(HP:0002750), LARGE BASAL GANGLIA(HP:0007048), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LARGE EYES(HP:0001090), CRYPTORCHIDISM(HP:0000028), HYPOSPADIAS(HP:0000047), CLITOROMEGALY(HP:0000057), SELECTIVE TOOTH AGENESIS(HP:0001592), BLEPHAROPHIMOSIS(HP:0000581), PES PLANUS(HP:0001763), HYPOPLASIA OF PROXIMAL RADIUS(HP:0006434), DENTAL OVERCROWDING(HP:0000678), HYPOPLASIA OF PROXIMAL FIBULA(HP:0006442), HIGH-ARCHED PALATE(HP:0000156), DENTAL MALOCCLUSION(HP:0000689), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), ABNORMAL FINGER FLEXION CREASES(HP:0006143), DISLOCATED RADIAL HEAD(HP:0003083), HYPERACTIVITY(HP:0000752), MICROGNATHIA(HP:0000210), SMALL ANTERIOR FONTANELLE(HP:0000237), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), ELBOW CONTRACTURES(HP:0002987), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), TALIPES(HP:0001883), PANCYTOPENIA(HP:0001876), GAP BETWEEN FIRST AND SECOND TOES(HP:0001852), SLOPING FOREHEAD(HP:0000340), PACHYGYRIA(HP:0001302), FACIAL ASYMMETRY(HP:0000324), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), 11 PAIRS OF RIBS(HP:0000878), LOW-SET EARS(HP:0000369), SHORT STATURE, PROPORTIONATE(HP:0003499), ABNORMAL FORM OF EARS(HP:0000377), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), TRANSVERSE PALMAR CREASES(HP:0000954), IVORY EPIPHYSES(HP:0010583), BEAKED NOSE(HP:0000444), DISLOCATED HIPS(HP:0002827), PRENATAL GROWTH DEFICIENCY(HP:0001515), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), PROMINENT NOSE(HP:0000448), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
546	ATRX	[DELAYED SKELETAL MATURATION(HP:0002750), KYPHOSCOLIOSIS(HP:0002751), VARIABLE PHENOTYPE(HP:0003813), CRYPTORCHIDISM(HP:0000028), SCROTAL HYPOPLASIA(HP:0000046), HYPOSPADIAS(HP:0000047), SHAWL SCROTUM(HP:0000049), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), ABSENT FRONTAL SINUSES(HP:0002688), VESICOURETERAL REFLUX(HP:0000076), RENAL HYPOPLASIA(HP:0000089), EXOTROPIA(HP:0000577), UPSLANTING PALPEBRAL FISSURES(HP:0000582), UMBILICAL HERNIA(HP:0001537), RENAL AGENESIS(HP:0000104), WIDELY-SPACED UPPER INCISORS(HP:0001566), DECREASED TESTICULAR SIZE(HP:0008734), HYDRONEPHROSIS(HP:0000126), PES PLANUS(HP:0001763), SLENDER, TAPERING FINGERS(HP:0006098), TALIPES EQUINOVARUS(HP:0001762), HYPOGONADISM(HP:0000135), HIGH-ARCHED PALATE(HP:0000156), MACROGLOSSIA(HP:0000158), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), CEREBRAL ATROPHY(HP:0002059), FULL LIPS(HP:0000170), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), 'CARP-LIKE' MOUTH(HP:0000186), PROMINENT LOWER LIP(HP:0000179), HYPERTONIA(HP:0001276), MACROSTOMIA(HP:0000181), COXA VALGA(HP:0002673), CLINODACTYLY OF HANDS(HP:0001157), BRACHYDACTYLY(HP:0001156), PAROXYSMAL BURSTS OF LAUGHTER(HP:0000749), OPEN MOUTH(HP:0000194), THIN UPPER LIP(HP:0000219), HYPERACTIVITY(HP:0000752), MICROGNATHIA(HP:0000210), MICROCEPHALY(HP:0000252), MALAR HYPOPLASIA(HP:0000272), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), HYPERREFLEXIA(HP:0001347), DOLICHOCEPHALY(HP:0000268), DELAYED DEVELOPMENTAL MILESTONES(HP:0002473), TALIPES CALCANEOVALGUS(HP:0001884), BITEMPORAL NARROWING(HP:0000314), HYPERTELORISM(HP:0000316), LOW-SET EARS(HP:0000369), POSTERIORLY ROTATED EARS(HP:0000358), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), DROOLING(HP:0002307), SMALL EARS(HP:0000409), GENU VALGUM(HP:0002857), HEARING LOSS, SENSORINEURAL(HP:0000407), CONSTIPATION(HP:0002019), GASTROESOPHAGEAL REFLUX(HP:0002020), VOMITING(HP:0002013), FLAT, BROAD NASAL BRIDGE(HP:0000439), LOW NASAL BRIDGE(HP:0000428), GASTROINTESTINAL REFLUX(HP:0004793), OBESITY(HP:0001513), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), NARES, ANTEVERTED(HP:0000463), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HEMIVERTEBRAE(HP:0002937), TRIANGULAR NASAL TIP(HP:0000451), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), MILD HYPOCHROMIC MICROCYTIC ANEMIA(HP:0004842), METABOLISM ABNORMALITY(HP:0001939), SMALL TRIANGULAR NOSE(HP:0005270)]
549	AUH	[ATHETOSIS(HP:0002305), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HIGHLY VARIABLE PHENOTYPE(HP:0003815), URINARY INCONTINENCE(HP:0000020), HYPERREFLEXIA(HP:0001347), CEREBELLAR ATAXIA(HP:0001253), OPTIC ATROPHY(HP:0000648), DYSARTHRIA(HP:0001260), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), LEUKOENCEPHALOPATHY(HP:0002352), ONSET IN ADULTHOOD(HP:0003581), ONSET IN INFANCY(HP:0003576), HYPOKINESIA(HP:0002375), SPASTIC TETRAPLEGIA(HP:0002510), FEBRILE SEIZURES(HP:0002373), COGNITIVE IMPAIRMENT(HP:0002128), SHORT ATTENTION SPAN(HP:0000736), SPEECH DELAY(HP:0002117), METABOLIC ACIDOSIS(HP:0001942), DYSTONIA(HP:0001332), CEREBRAL ATROPHY, PROGRESSIVE(HP:0002422)]
551	AVP	[LONG PHILTRUM(HP:0000343), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), OSTEOPENIA(HP:0000938), METABOLISM ABNORMALITY(HP:0001939), GLIOSIS(HP:0002171), CENTRAL DIABETES INSIPIDUS(HP:0000863), HYPERTELORISM(HP:0000316), SHORT, BROAD NOSE(HP:0000438)]
554	AVPR2	[IRRITABILITY(HP:0000737), HYPERNATREMIA(HP:0003228), DECREASED BODY HEIGHT(HP:0004322), SYSTOLIC HYPERTENSION, MILD(HP:0004956), POLYDIPSIA(HP:0001959), CONSTIPATION(HP:0002019), UNEXPLAINED FEVERS(HP:0001955), FEEDING DIFFICULTIES(HP:0002022), X-LINKED RECESSIVE INHERITANCE(HP:0001419), ONSET IN FIRST WEEKS OF LIFE(HP:0003622), POLYURIA(HP:0000103), INCREASED URINARY SODIUM(HP:0003608), SEIZURES(HP:0001250), LOW PLASMA RENIN ACTIVITY(HP:0003263), VOMITING(HP:0002013), LOWER URINARY TRACT DILATATION MAY OCCUR OVER TIME(HP:0002838), HYPERTONIC DEHYDRATION(HP:0001986), FAILURE TO THRIVE(HP:0001508), HYPONATREMIA(HP:0002902), MENTAL RETARDATION CAN OCCUR IN PATIENTS WITH REPEATED EPISODES OF DEHYDRATION(HP:0002482)]
567	B2M	[GENU VARUS(HP:0003052), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BOWING OF THE LEGS(HP:0002979), SHORT ULNA(HP:0002998), HYPOPROTEINEMIA(HP:0003075), DECREASED SERUM IGG(HP:0008340), GENU VARUM(HP:0002970)]
582	BBS1	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
583	BBS2	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
585	BBS4	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
590	BCHE	[HYPOKINESIA(HP:0002375), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RESPIRATORY ARREST(HP:0005943), APNEA(HP:0002104)]
593	BCKDHA	[MENTAL RETARDATION IF UNTREATED(HP:0003767), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HALLUCINATIONS(HP:0000738), ELEVATED PLASMA BRANCHED CHAIN AMINO ACIDS(HP:0008344), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PANCREATITIS(HP:0001733), SEIZURES(HP:0001250), COMA(HP:0001259), KETOSIS(HP:0001946), VOMITING(HP:0002013), GROWTH ABNORMALITY(HP:0001507), HYPERTONIA(HP:0001276)]
594	BCKDHB	[MENTAL RETARDATION IF UNTREATED(HP:0003767), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HALLUCINATIONS(HP:0000738), ELEVATED PLASMA BRANCHED CHAIN AMINO ACIDS(HP:0008344), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PANCREATITIS(HP:0001733), SEIZURES(HP:0001250), COMA(HP:0001259), KETOSIS(HP:0001946), VOMITING(HP:0002013), GROWTH ABNORMALITY(HP:0001507), HYPERTONIA(HP:0001276)]
595	CCND1	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MULTIPLE RENAL CYSTS(HP:0005562), HEARING LOSS, SENSORINEURAL(HP:0000407), VERTIGO(HP:0002321), ERYTHROCYTOSIS(HP:0001901), PHEOCHROMOCYTOMA(HP:0002666), PULMONARY CAPILLARY HEMANGIOMATOSIS(HP:0005954), METABOLISM ABNORMALITY(HP:0001939), PAPILLARY CYSTADENOMA OF THE EPIDIDYMIS(HP:0009715), SPINAL HEMANGIOBLASTOMA(HP:0009713), RENAL CELL CARCINOMA(HP:0005584), PANCREATIC CYSTS(HP:0001737), NEOPLASIA OF THE PANCREAS(HP:0002894), ABNORMALITY OF THE LIVER(HP:0001392), PARATHYROID ADENOMA(HP:0002897), RETINAL HEMANGIOBLASTOMA(HP:0009711), CEREBELLAR HEMANGIOBLASTOMA(HP:0006880), HEMANGIOBLASTOMA, SPORADIC CEREBELLAR(HP:0006761), TINNITUS(HP:0000360)]
596	BCL2	[METABOLISM ABNORMALITY(HP:0001939), SOMATIC MUTATION(HP:0001428), LYMPHOMA(HP:0002665), CHRONIC LYMPHATIC LEUKEMIA(HP:0005550)]
602	BCL3	[CHRONIC LYMPHATIC LEUKEMIA(HP:0005550)]
611	OPN1SW	[ABNORMAL ELECTRORETINOGRAM(HP:0000512), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
613	BCR	[SOMATIC MUTATION(HP:0001428), CHRONIC MYELOGENOUS LEUKEMIA(HP:0005506), PH-POSITIVE ACUTE LYMPHOBLASTIC LEUKEMIA(HP:0004848), LOW LEUKOCYTE ALKALINE PHOSPHATASE(HP:0004852)]
617	BCS1L	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), MITOCHONDRIAL ENCEPHALOPATHY(HP:0006789), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), CATARACT(HP:0000518), CHOLESTASIS(HP:0001396), INCREASED CSF LACTATE(HP:0002490), DECREASED COMPLEX III ACTIVITY IN LIVER TISSUE(HP:0006558), COARSE HAIR(HP:0002208), GONADOTROPIN DEFICIENCY(HP:0008192), ABNORMALITY OF THE URINARY TRACT(HP:0000079), RHABDOMYOLYSIS(HP:0003201), RAGGED-RED MUSCLE FIBERS(HP:0003200), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ALOPECIA(HP:0001596), NYSTAGMUS(HP:0000639), ISOLATED HYPOGONADOTROPIC HYPOGONADISM(HP:0008224), PIGMENTARY RETINOPATHY(HP:0000580), DYSTONIA(HP:0001332), MUSCLE WEAKNESS(HP:0001324), OPHTHALMOPLEGIA(HP:0000602), DEAFNESS(HP:0000404), FEEDING DIFFICULTIES(HP:0002022), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), PROGRESSIVE DISORDER(HP:0003676), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), DYSARTHRIA(HP:0001260), SPASTICITY(HP:0001257), EEG ABNORMALITIES(HP:0002353), FAILURE TO THRIVE(HP:0001508), CEREBELLAR ATROPHY(HP:0001272), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), HALLUCINATIONS(HP:0000738), HAIR SHAFTS FLATTENED AT IRREGULAR INTERVALS AND TWISTED THROUGH 180 DEGREES ABOUT THEIR AXES(HP:0003329), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), DECREASED LIVER FUNCTION(HP:0001410), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), MICROVESICULAR STEATOSIS(HP:0001414), HYPERTRICHOSIS(HP:0000998), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), EMOTIONAL LABILITY(HP:0000712), RETINITIS PIGMENTOSA(HP:0000510), LACTIC ACIDEMIA(HP:0003128), DEPRESSION(HP:0000716), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), INCREASED SERUM LACTATE(HP:0002151), COAGULOPATHY(HP:0001925), AMINOACIDURIA(HP:0002903), DEMYELINATION(HP:0003381)]
627	BDNF	[ABNORMALITY OF THE MOUTH(HP:0000153), CONGENITAL MEGACOLON(HP:0002251), LOW-SET EARS(HP:0000369), NEUROLOGICAL ABNORMALITY(HP:0000707), POSTERIORLY ROTATED EARS(HP:0000358), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626)]
641	BLM	[NARROW FACE(HP:0000275), NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), AZOOSPERMIA(HP:0000027), CRYPTORCHIDISM(HP:0000028), DOLICHOCEPHALY(HP:0000268), DECREASED IGA(HP:0002720), CHRONIC LUNG DISEASE(HP:0006528), HIGH PITCHED VOICE(HP:0001620), TENDENCY TO CHROMOSOMAL BREAKAGE(HP:0003220), DECREASED FERTILITY IN FEMALES(HP:0000868), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), LEARNING DISABILITY(HP:0001328), CAFE-AU-LAIT SPOTS(HP:0000957), PROMINENT EARS(HP:0000412), SQUAMOUS CELL CARCINOMA(HP:0002860), ABSENT UPPER LATERAL INCISORS(HP:0000690), SPOTTY HYPOPIGMENTATION(HP:0005590), SPOTTY HYPERPIGMENTATION(HP:0005585), FACIAL TELANGIECTASIA IN BUTTERFLY MIDFACE DISTRIBUTION(HP:0005598), BRONCHIECTASIS(HP:0002110), MENTAL RETARDATION, MILD(HP:0001256), GROWTH FAILURE(HP:0001517), PRENATAL GROWTH DEFICIENCY(HP:0001515), SYNDACTYLY(HP:0001159), POLYDACTYLY (HANDS)(HP:0001161), PHOTOSENSITIVITY(HP:0000992), LYMPHOMA(HP:0002665), HYPERTRICHOSIS(HP:0000998), PROMINENT NOSE(HP:0000448), MICROCEPHALY(HP:0000252)]
652	BMP4	[HYPOTHYROIDISM(HP:0000821), SMALL EARS(HP:0000409), MALAR HYPOPLASIA(HP:0000272), RETROGNATHIA(HP:0000278), TRANSVERSE PALMAR CREASES(HP:0000954), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TOE SYNDACTYLY(HP:0001770), LARGE EARS(HP:0000400), HYPOPITUITARISM(HP:0000830), CRANIOSYNOSTOSIS(HP:0001363), UPLIFTED EARLOBES(HP:0009909), PLAGIOCEPHALY(HP:0001357), HIGH-ARCHED PALATE(HP:0000156), ANOPHTHALMIA, CLINICAL(HP:0001485), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), PSYCHOMOTOR RETARDATION(HP:0001255), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), CLEFT PALATE(HP:0000175), HYPOSPADIAS(HP:0000047), SEVERE MUSCULAR HYPOTONIA(HP:0006829), BIFID SCROTUM(HP:0000048), MICROPENIS(HP:0000054), CLEFT LIP(HP:0000204), CLINODACTYLY OF HANDS(HP:0001157), HIGH FOREHEAD(HP:0000348), BIFID UVULA(HP:0000193), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), FACIAL ASYMMETRY(HP:0000324), PREAXIAL POLYDACTYLY (HANDS)(HP:0001177), CEREBRAL CORTICAL ATROPHY(HP:0002120), RENAL HYPOPLASIA(HP:0000089), MICROGNATHIA(HP:0000210), LOW-SET EARS(HP:0000369), SMALL TONGUE(HP:0000226), ADRENAL HYPOPLASIA(HP:0000835), POSTERIORLY ROTATED EARS(HP:0000358), BRACHYCEPHALY(HP:0000248)]
657	BMPR1A	[RECTAL PROLAPSE(HP:0002035), CLUBBING(HP:0001217), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECTAL BLEEDING(HP:0002609), ANEMIA(HP:0001903), COLON CANCER(HP:0003003), HYPOALBUMINEMIA(HP:0003073), ABDOMINAL PAIN(HP:0002027), INTUSSUSCEPTION(HP:0002576), DIARRHEA(HP:0002014), FAILURE TO THRIVE(HP:0001508), INTESTINAL POLYPS(HP:0005266), HYPOKALEMIA(HP:0002900)]
658	BMPR1B	[FIBULAR APLASIA(HP:0002990), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPLASTIC UTERUS(HP:0000013), SHORT ULNA(HP:0002998), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), PRIMARY AMENORRHEA(HP:0000786), BRACKET EPIPHYSIS OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009514), APLASIA/HYPOPLASIA INVOLVING THE METACARPAL BONES(HP:0005914), SHORT, BROAD LATERALLY DEVIATED HALLUCES(HP:0004700), HYPOPLASTIC/SMALL 2ND FINGER(HP:0009536), MEDIALLY DEVIATED SECOND TOE(HP:0008096), SHORT FEMORAL NECK(HP:0003032), TRIANGULAR SHAPED MIDDLE PHALANX OF THE 2ND FINGER(HP:0009575), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009568), TALIPES EQUINOVARUS(HP:0001762), BROAD FEET(HP:0001769), BRACKET EPIPHYSIS OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0009204), VARIABLE FIFTH FINGER CLINODACTYLY(HP:0006083), TYPE A BRACHYDACTYLY(HP:0009370), TRIANGULAR SHAPED MIDDLE PHALANX OF THE 5TH FINGER(HP:0009182), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0009161), WIDENED PROXIMAL TIBIAL METAPHYSES(HP:0005028), SYNDACTYLY(HP:0001159), APLASIA OF THE PROXIMAL PHALANGES OF THE HAND(HP:0010242), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), SHORT LIMB DWARFISM, DISPROPORTIONATE(HP:0008881), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANGES OF THE TOES(HP:0010194), SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702), SEVERE BRACHYDACTYLY(HP:0001201), SYNOSTOSIS INVOLVING TARSAL BONES(HP:0008368), ULNAR DEVIATION OF THE 2ND FINGER(HP:0009464), RADIAL DEVIATION OF THE 2ND FINGER(HP:0009467)]
659	BMPR2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TELANGIECTASIA(HP:0001009), RIGHT VENTRICULAR FAILURE(HP:0001708), THROMBOSIS(HP:0001977), PULMONARY VENOOCCLUSIVE DISEASE(HP:0006518), ELEVATED RIGHT ATRIAL PRESSURE(HP:0005168), PULMONARY ARTERY VASOCONSTRICTION(HP:0005308), INCREASED PULMONARY VASCULAR RESISTANCE(HP:0005317), ARTERIES SHOW INTIMAL FIBROSIS(HP:0005312), METABOLISM ABNORMALITY(HP:0001939), RIGHT VENTRICULAR HYPERTROPHY(HP:0001667), ARTERIES SHOW MEDIAL HYPERTROPHY(HP:0004964), DYSPNEA(HP:0002094), PULMONARY HYPERTENSION(HP:0002092)]
668	FOXL2	[AMENORRHEA(HP:0000141), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HIGH-ARCHED PALATE(HP:0000156), SIMPLE EARS(HP:0000390), MICROPHTHALMOS(HP:0000568), FLAT, BROAD NASAL BRIDGE(HP:0000439), ABNORMALITY OF THE BREASTS(HP:0000769), HYPERMETROPIA(HP:0000540), EPICANTHUS INVERSUS(HP:0000537), PREMATURE OVARIAN FAILURE(HP:0008209), HAIR ABNORMALITY(HP:0001595), NYSTAGMUS(HP:0000639), FEMALE INFERTILITY(HP:0008222), PTOSIS(HP:0000508), BLEPHAROPHIMOSIS(HP:0000581), TELECANTHUS(HP:0000506), MENSTRUAL IRREGULARITIES(HP:0000858), CUP-SHAPED EARS(HP:0000378), ELEVATED GONADOTROPINS(HP:0000837), STRABISMUS(HP:0000486), MICROCORNEA(HP:0000482)]
669	BPGM	[JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NORMOCYTIC ANEMIA(HP:0001897), NORMOCHROMIC ANEMIA(HP:0001895), METABOLISM ABNORMALITY(HP:0001939), SPLENOMEGALY(HP:0001744), CHOLECYSTITIS(HP:0001082), CHOLELITHIASIS(HP:0001081), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
673	BRAF	[PULMONIC STENOSIS(HP:0001642), DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), OPTIC NERVE DYSPLASIA(HP:0001093), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), SLOW-GROWING HAIR(HP:0002217), ATRIAL SEPTAL DEFECT(HP:0001631), PREMATURE BIRTH(HP:0001622), CURLY HAIR(HP:0002212), CAVERNOUS HEMANGIOMA(HP:0001048), NYSTAGMUS(HP:0000639), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), ABSENT EYEBROWS AND EYELASHES(HP:0002288), POLYHYDRAMNIOS(HP:0001561), MULTIPLE PLANTAR CREASES(HP:0008113), HYDRONEPHROSIS(HP:0000126), SEVERE ATOPIC DERMATITIS(HP:0007533), EARLOBE CREASE(HP:0009908), HIGH-ARCHED PALATE(HP:0000156), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), EXOPHTHALMOS(HP:0000645), ABNORMALITY OF THE TEETH(HP:0000164), SPLENOMEGALY(HP:0001744), MULTIPLE PALMAR CREASES(HP:0006114), RESPIRATORY ABNORMALITY(HP:0002086), RELATIVE MACROCEPHALY(HP:0004482), HYPERTONIA(HP:0001276), SUBMUCOUS CLEFT PALATE(HP:0000176), OCULOMOTOR APRAXIA(HP:0000657), CLINODACTYLY OF HANDS(HP:0001157), ALVEOLAR CELL CARCINOMA(HP:0006519), PECTUS EXCAVATUM(HP:0000767), CEREBRAL CORTICAL ATROPHY(HP:0002120), MICROGNATHIA(HP:0000210), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), HYPEREXTENSIBILITY OF THE FINGER JOINTS(HP:0001187), HYDROCEPHALUS(HP:0000238), ONSET IN UTERO OR AT BIRTH(HP:0003601), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), DOLICHOCEPHALY(HP:0000268), PROMINENT PHILTRUM(HP:0000305), BITEMPORAL NARROWING(HP:0000314), HYPERTELORISM(HP:0000316), PECTUS CARINATUM(HP:0000768), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), HYPOPLASTIC FRONTAL LOBES(HP:0007333), POSTERIORLY ROTATED EARS(HP:0000358), HEARING LOSS(HP:0000365), ICHTHYOSIS(HP:0000955), CONSTIPATION(HP:0002019), GASTROESOPHAGEAL REFLUX(HP:0002020), OSTEOPENIA(HP:0000938), FEEDING DIFFICULTIES(HP:0002022), SHORT, UPTURNED NOSE(HP:0000441), BULBOUS NASAL TIP(HP:0000443), FRONTAL BOSSING(HP:0002007), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), SHALLOW ORBITAL RIDGES(HP:0005337), DECREASED BODY HEIGHT(HP:0004322), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), HYPERKERATOSIS(HP:0000962), STRABISMUS(HP:0000486)]
675	BRCA2	[HETEROGENEOUS(HP:0001425), EARLY ONSET(HP:0003593), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SOMATIC MUTATION(HP:0001428), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667)]
686	BTD	[METABOLIC KETOACIDOSIS(HP:0005979), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), DIFFUSE CEREBELLAR ATROPHY(HP:0006928), FEEDING DIFFICULTIES(HP:0002022), VISUAL LOSS(HP:0000572), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), DEVELOPMENTAL RETARDATION(HP:0001263), APNEA(HP:0002104), DIARRHEA(HP:0002014), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), ORGANIC ACIDURIA(HP:0001992), RECURRENT SKIN INFECTIONS(HP:0001581), MILD HYPERAMMONEMIA(HP:0008334), DIFFUSE CEREBRAL ATROPHY(HP:0002506), SEBORRHEIC DERMATITIS(HP:0001051), ALOPECIA(HP:0001596), HEPATOMEGALY(HP:0002240), TACHYPNEA(HP:0002789), CONJUNCTIVITIS(HP:0000509), SKIN RASH(HP:0000988)]
695	BTK	[DELAYED SKELETAL MATURATION(HP:0002750), SEVERE ENTEROVIRAL INFECTIONS(HP:0002743), SMALL LYMPH NODES(HP:0002732), PROSTATITIS(HP:0000024), COR PULMONALE(HP:0001648), EPIDIDYMITIS(HP:0000031), RECURRENT BACTERIAL INFECTIONS(HP:0002718), SUSCEPTIBILITY TO INFECTION(HP:0002964), DELAYED SPEECH ACQUISITION(HP:0002498), URINARY TRACT INFECTIONS(HP:0000094), MENINGITIS(HP:0001287), ENTEROVIRAL DERMATOMYOSITIS SYNDROME(HP:0003729), AGAMMAGLOBULINEMIA(HP:0004432), ISOLATED GROWTH HORMONE DEFICIENCY(HP:0000861), HEARING LOSS(HP:0000365), CHRONIC OTITIS MEDIA(HP:0000389), PANHYPOGAMMAGLOBULINEMIA(HP:0003139), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), DIARRHEA(HP:0002014), PNEUMONIA(HP:0002090), ABSENT OR SEVERELY REDUCED LEVELS OF SERUM IMMUNOGLOBULINS(HP:0008328), ENCEPHALITIS(HP:0002383), DECREASED BODY HEIGHT(HP:0004322), SEPTIC ARTHRITIS(HP:0003095), ENTEROVIRAL HEPATITIS(HP:0001412), X-LINKED RECESSIVE INHERITANCE(HP:0001419), NEOPLASIA(HP:0002664), PYODERMA(HP:0000999), CONJUNCTIVITIS(HP:0000509), SINUSITIS(HP:0000246)]
701	BUB1B	[MALAR HYPOPLASIA(HP:0000272), POSTERIOR FOSSA MALFORMATIONS(HP:0006809), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), EPICANTHUS(HP:0000286), MENTAL RETARDATION, PROFOUND(HP:0002187), VARIABLE PHENOTYPE(HP:0003813), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), HYPERTELORISM(HP:0000316), HYPOSPADIAS(HP:0000047), BIFID SCROTUM(HP:0000048), MICROPENIS(HP:0000054), AMBIGUOUS GENITALIA(HP:0000062), LONG PHILTRUM(HP:0000343), DANDY-WALKER MALFORMATION(HP:0001305), HIGH FOREHEAD(HP:0000348), GENERALIZED HYPOTONIA(HP:0001290), HYPODYSPLASIA OF THE CORPUS CALLOSUM(HP:0006849), NYSTAGMUS(HP:0000639), SHORT STERNUM(HP:0000879), LOW-SET EARS(HP:0000369), UPSLANTING PALPEBRAL FISSURES(HP:0000582), RENAL CYSTS(HP:0000107), COMBINED IMMUNODEFICIENCY(HP:0005387), CEREBELLAR HYPOPLASIA(HP:0001321), POSTERIORLY ROTATED EARS(HP:0000358), OLIGOHYDRAMNIOS(HP:0001562), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), RHABDOMYOSARCOMA(HP:0002859), FEEDING DIFFICULTIES(HP:0002022), CLEFT PALATE(HP:0000175), PREMATURE CHROMATID SEPARATION(HP:0200024), RENAL CELL CARCINOMA(HP:0005584), DEVELOPMENTAL RETARDATION(HP:0001263), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), FLATTENED NASAL BRIDGE(HP:0000425), LOW BIRTH WEIGHT(HP:0001518), AGENESIS OF CORPUS CALLOSUM(HP:0001274), TRIANGULAR MOUTH(HP:0000207), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), NARES, ANTEVERTED(HP:0000463), GROWTH RETARDATION, PRENATAL AND POSTNATAL(HP:0008893), VENTRICULOMEGALY(HP:0002119), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), MICROGNATHIA(HP:0000210), HYDROCEPHALUS(HP:0000238), UTERINE LEIOMYOSARCOMA(HP:0002891), MICROCEPHALY(HP:0000252), BRACHYCEPHALY(HP:0000248)]
710	SERPING1	[METABOLISM ABNORMALITY(HP:0001939), INTESTINAL EDEMA(HP:0005225), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE LARYNX(HP:0001600), ERYTHEMA(HP:0010783), ANXIETY(HP:0000739), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), DIARRHEA(HP:0002014), VOMITING(HP:0002013), EDEMA(HP:0000969), AXONAL PERIPHERAL NEUROPATHY(HP:0007169), NERVE BIOPSY SHOWS AXONAL DEGENERATION(HP:0007304), SYSTEMIC LUPUS ERYTHEMATOSUS(HP:0002725), ABDOMINAL PAIN(HP:0002027)]
712	C1QA	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOIMMUNE DISEASE(HP:0002960)]
715	C1R	[METABOLISM ABNORMALITY(HP:0001939), RHEUMATOID ARTHRITIS(HP:0001370), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ARTHRALGIA(HP:0002829), DISCOID LUPUS ERYTHEMATOSUS(HP:0007417), RESPIRATORY ABNORMALITY(HP:0002086), NEPHRITIS(HP:0000123), AUTOIMMUNE DISEASE(HP:0002960)]
717	C2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PURPURA(HP:0000979), SYSTEMIC LUPUS ERYTHEMATOSUS(HP:0002725)]
718	C3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUSCEPTIBILITY TO PYOGENIC INFECTION(HP:0005367), PROTEINURIA(HP:0000093), LIPODYSTROPHY(HP:0009125), HEMATURIA(HP:0000790), SKIN RASH(HP:0000988), ERYTHEMA(HP:0010783), MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS(HP:0000793), MICROSCOPIC HEMATURIA(HP:0002907)]
720	C4A	[METABOLISM ABNORMALITY(HP:0001939), GLOMERULONEPHRITIS(HP:0000099), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PURPURA(HP:0000979), VASCULITIS(HP:0002633), PHOTOSENSITIVITY(HP:0000992), SYSTEMIC LUPUS ERYTHEMATOSUS(HP:0002725)]
727	C5	[METABOLISM ABNORMALITY(HP:0001939), RECURRENT LOCAL AND SYSTEMIC INFECTIONS, ESP GRAM-NEGATIVE(HP:0005395), INTRACTABLE DIARRHEA(HP:0002041), DISCOID LUPUS ERYTHEMATOSUS(HP:0007417), GENERALIZED SEBORRHEIC DERMATITIS(HP:0007569), GROWTH ABNORMALITY(HP:0001507), SYSTEMIC LUPUS ERYTHEMATOSUS(HP:0002725)]
729	C6	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
730	C7	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AUTOIMMUNE DISEASE(HP:0002960)]
731	C8A	[C8 DEFICIENCY(HP:0004434), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EPISODES OF NEISSERIAL INFECTION(HP:0005378), SYSTEMIC LUPUS ERYTHEMATOSUS(HP:0002725), MENINGITIS(HP:0001287)]
732	C8B	[C8 DEFICIENCY(HP:0004434), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECURRENT NEISSERIAL INFECTIONS(HP:0005430), MENINGITIS(HP:0001287)]
760	CA2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELEVATED SERUM ACID PHOSPHATASE(HP:0003148), ANEMIA(HP:0001903), PERIODIC HYPOKALEMIC PARESIS(HP:0008153), VISUAL LOSS(HP:0000572), DENTAL MALOCCLUSION(HP:0000689), MENTAL RETARDATION(HP:0001249), BASAL GANGLIA CALCIFICATION(HP:0002135), HEPATOSPLENOMEGALY(HP:0001433), DECREASED BODY HEIGHT(HP:0004322), EXTRAMEDULLARY HEMATOPOIESIS(HP:0001978), RENAL TUBULAR ACIDOSIS, TYPE I(HP:0008341), CRANIAL HYPEROSTOSIS(HP:0004437), DIAPHYSEAL SCLEROSIS(HP:0003034), HYPOKALEMIA(HP:0002900), VISUAL IMPAIRMENT FROM OPTIC NERVE COMPRESSION(HP:0008495)]
762	CA4	[RETINITIS PIGMENTOSA(HP:0000510), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
767	CA8	[TREMOR(HP:0001337), CEREBELLAR ATAXIA(HP:0001253), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MENTAL RETARDATION, MILD(HP:0001256), SLURRED SPEECH(HP:0001350), STRABISMUS(HP:0000486)]
773	CACNA1A	[NEUROPATHY(HP:0003407), DYSCALCULIA(HP:0002442), INTERICTAL VESTIBULAR DYSFUNCTION(HP:0006917), IMPAIRED SMOOTH PURSUIT(HP:0007772), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), PARESTHESIA(HP:0003401), INCOMPLETE PENETRANCE(HP:0003829), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), MIGRAINE WITH AURA(HP:0002077), VERTIGO(HP:0002321), ABNORMAL VESTIBULOOCULAR REFLEX(HP:0007670), DROWSINESS(HP:0002329), CEREBROVASCULAR ACCIDENT(HP:0002452), DIPLOPIA(HP:0000651), DYSARTHRIA(HP:0001260), HEMIANOPIC BLURRING OF VISION(HP:0001125), COMA(HP:0001259), GAZE-EVOKED NYSTAGMUS(HP:0000640), DYSPHAGIA(HP:0002015), HEMIPARESIS(HP:0001269), DYSPHASIA(HP:0002357), MYOTONIA(HP:0002486), CEREBELLAR ATROPHY(HP:0001272), VISUAL HALLUCINATIONS(HP:0002367), SACCADIC SMOOTH PURSUIT(HP:0001152), HETEROGENEOUS(HP:0001425), ATAXIA, EPISODIC(HP:0002131), ANXIETY(HP:0000739), BLURRED VISION(HP:0000622), CONFUSION(HP:0001289), AUDITORY HALLUCINATIONS(HP:0008765), ONSET USUALLY IN CHILDHOOD OR ADOLESCENCE(HP:0003620), AGITATION(HP:0000713), ATROPHY OF CEREBELLAR VERMIS(HP:0007312), HEMIPLEGIA(HP:0002301), PROGRESSIVE ATAXIA(HP:0001329), GENETIC ANTICIPATION(HP:0003743), PSYCHOSIS(HP:0000709), DYSTONIA(HP:0001332), RESTLESSNESS(HP:0000711), FEVER(HP:0001945), DOWNBEAT NYSTAGMUS(HP:0010545), TINNITUS(HP:0000360)]
775	CACNA1C	[SUDDEN DEATH(HP:0001699), SYNDACTYLY(HP:0001159), PROLONGED QT INTERVAL ON EKG(HP:0001657)]
778	CACNA1F	[HETEROGENEOUS(HP:0001425), ALBINISM(HP:0001022), MYOPIA(HP:0000545), X-LINKED INHERITANCE(HP:0001417), NYSTAGMUS(HP:0000639), FOVEAL HYPOPLASIA(HP:0007750), METABOLISM ABNORMALITY(HP:0001939), SEVERE VISUAL IMPAIRMENT(HP:0001141), CONGENITAL STATIONARY NIGHT BLINDNESS(HP:0007642), ASTIGMATISM(HP:0000483)]
779	CACNA1S	[MYOPATHY(HP:0003198), REDUCED PENETRANCE(HP:0003830), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), GENERALIZED MUSCLE WEAKNESS(HP:0003324), PARALYSIS(HP:0003470), VARIABLE PHENOTYPE(HP:0003813), HYPOKALEMIA(HP:0002900), FLACCID WEAKNESS OR PARALYSIS, EPISODIC ATTACKS(HP:0003752)]
783	CACNB2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEUROLOGICAL ABNORMALITY(HP:0000707)]
788	SLC25A20	[HYPOTENSION(HP:0002615), VENTRICULAR HYPERTROPHY ON ECG(HP:0005167), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), VENTRICULAR EXTRASYSTOLES(HP:0006682), BRADYCARDIA(HP:0001662), VENTRICULAR TACHYCARDIA(HP:0004756), HEPATOMEGALY(HP:0002240), HYPOGLYCEMIA(HP:0001943), CARDIORESPIRATORY ARREST(HP:0006543), SEIZURES(HP:0001250), ATRIOVENTRICULAR BLOCK(HP:0001678), APNEA(HP:0002104), COMA(HP:0001259), KETOSIS(HP:0001946), HYPERAMMONEMIA(HP:0001987), MUSCLE WEAKNESS(HP:0001324)]
795	S100G	[X-LINKED INHERITANCE(HP:0001417)]
825	CAPN3	[CONTRACTURES(HP:0001371), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CLUMSINESS(HP:0002312), SCAPULAR WINGING(HP:0003691), SYMMETRIC PROXIMAL MUSCULAR ATROPHY(HP:0008980), EOSINOPHILIA(HP:0001880), DIFFICULTY WALKING(HP:0002355), INCREASED SERUM CREATINE KINASE(HP:0002147)]
841	CASP8	[HETEROGENEOUS(HP:0001425), SUBACUTE PROGRESSIVE VIRAL HEPATITIS(HP:0006572), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RECURRENT SINOPULMONARY INFECTIONS(HP:0005425), DECREASED BODY HEIGHT(HP:0004322), DECREASED T CELL ACTIVATION(HP:0005419), MICRONODULAR CIRRHOSIS(HP:0001413), LYMPHADENOPATHY(HP:0002716), ASTHMA(HP:0002099), METABOLISM ABNORMALITY(HP:0001939), HEPATOCELLULAR CARCINOMA(HP:0001402), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), DIARRHEA(HP:0002014), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), DEFECTIVE B CELL ACTIVATION(HP:0005384), PNEUMONIA(HP:0002090), ECZEMA(HP:0000964)]
843	CASP10	[INCREASED PROPORTION OF HLA DR+ AND CD57+ T CELLS(HP:0002853), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCREASED NUMBER OF CD4-/CD8- T CELLS EXPRESSING ALPHA/BETA T-CELL RECEPTORS(HP:0002851), AUTOIMMUNE NEUTROPENIA(HP:0001904), DEFECTIVE LYMPHOCYTE APOPTOSIS(HP:0002731), DIRECT COOMBS POSITIVE(HP:0003539), CHRONIC NONINFECTIOUS LYMPHADENOPATHY(HP:0002730), LYMPH NODES SHOW FLORID REACTIVE FOLLICULAR HYPERPLASIA AND MARKED PARACORTICAL EXPANSION WITH IMMUNOBLASTS AND PLASMA CELLS(HP:0002729), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), IRON DEFICIENCY ANEMIA(HP:0001891), EOSINOPHILIA(HP:0001880), CHRONIC ATROPHIC GASTRITIS(HP:0002582), SPLENOMEGALY(HP:0001744), NEUTROPHIL ANTIBODY POSITIVE(HP:0003453), REDUCED DELAYED HYPERSENSITIVITY(HP:0002972), PLATELET ANTIBODY POSITIVE(HP:0003454), INCREASED NUMBER OF PERIPHERAL CD3+ T CELLS(HP:0002845), ONSET IN INFANCY OR CHILDHOOD(HP:0003583), IMMUNE THROMBOCYTOPENIA(HP:0001973), URTICARIA(HP:0001025), RHEUMATOID FACTOR POSITIVE(HP:0002923), NEOPLASIA(HP:0002664), HEPATOMEGALY(HP:0002240), PHOSPHOLIPID ANTIBODY POSITIVE(HP:0003613), NEPHROTIC SYNDROME(HP:0000100), ANTINUCLEAR ANTIBODY POSITIVE(HP:0003493), INCREASED NUMBER OF B CELLS(HP:0005404), INCREASED IGM LEVEL(HP:0003496), SMOOTH MUSCLE ANTIBODY POSITIVE(HP:0003262), INCREASED IGA LEVEL(HP:0003261), INCREASED IGG LEVEL(HP:0003237), VASCULITIS(HP:0002633), NEPHRITIS(HP:0000123)]
846	CASR	[ELEVATED SERUM PARATHYROID HORMONE (PTH) LEVEL(HP:0003165), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOPARATHYROIDISM(HP:0000829), CONSTIPATION(HP:0002019), FEEDING DIFFICULTIES(HP:0002022), ANEMIA(HP:0001903), CATARACT(HP:0000518), MUSCULAR HYPOTONIA(HP:0001252), PANCREATITIS(HP:0001733), KIDNEY STONES(HP:0000787), SEIZURES(HP:0001250), SPLENOMEGALY(HP:0001744), NARROW CHEST(HP:0000774), FAILURE TO THRIVE(HP:0001508), DYSPNEA(HP:0002094), HYPERMAGNESEMIA(HP:0002918), CALCINOSIS(HP:0003761), POLYDIPSIA(HP:0001959), HYPERCALCEMIA(HP:0003072), TETANY(HP:0001281), HEPATOMEGALY(HP:0002240), TACHYPNEA(HP:0002789), POLYURIA(HP:0000103), INTRACEREBRAL CALCIFICATION ON CT SCAN(HP:0005806), HYPOCALCIURIA(HP:0003127), HYPERCALCIURIA(HP:0002150), HYPOPHOSPHATEMIA(HP:0002148), AMINOACIDURIA(HP:0002903), HYPOCALCEMIA(HP:0002901), HYPERPHOSPHATEMIA(HP:0002905), IRREGULAR METAPHYSES(HP:0003025), RECURRENT FRACTURES(HP:0002757), HYPERPHOSPHATURIA(HP:0003109), NEONATAL PRIMARY HYPERPARATHYROIDISM(HP:0008254)]
847	CAT	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
859	CAV3	[MUSCLE CRAMPS WITH EXERCISE(HP:0003710), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), CALF HYPERTROPHY(HP:0003703), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), LIMB-GIRDLE MUSCULAR DYSTROPHY(HP:0006785), MUSCLE HYPERIRRITABILITY(HP:0003559), MUSCULAR DYSTROPHY(HP:0003560), ONSET IN FIRST DECADE(HP:0003582), HETEROGENEOUS(HP:0001425), SUDDEN DEATH(HP:0001699), PERCUSSION-INDUCED RAPID ROLLING MUSCLE CONTRACTIONS (PIRC)(HP:0003760), MEAN AGE OF ONSET 18 YEARS(HP:0003628), MUSCLE ACTIVITY IS ELECTRICALLY SILENT ON EMG(HP:0003753), INCREASED CREATINE KINASE(HP:0003078), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), DECREASED CAVEOLIN-3 EXPRESSION ON MUSCLE BIOPSY(HP:0003735), EXERCISE-INDUCED MYALGIA(HP:0003738), MUSCLE MOUNDING(HP:0003719), EXERCISE-INDUCED MUSCLE STIFFNESS(HP:0008967), MUSCLE HYPERTROPHY(HP:0003712), INCREASED SERUM CREATINE KINASE(HP:0002147), SUBAORTIC STENOSIS(HP:0001682), GOWER SIGN(HP:0003391), ELEVATED SERUM CREATINE PHOSPHOKINASE(HP:0003236)]
860	RUNX2	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NARROW, HIGH-ARCHED PALATE(HP:0009080), HYPOPLASTIC FRONTAL SINUSES(HP:0002738), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), HYPERTELORISM(HP:0000316), NARROW CHEST(HP:0000774), LARGE FORAMEN MAGNUM(HP:0002700), SPONDYLOLISTHESIS(HP:0003302), SHORT RIBS(HP:0000773), DELAYED MINERALIZATION OF PUBIC BONE(HP:0008795), ABSENT PARANASAL SINUSES(HP:0002689), OSTEOSCLEROSIS(HP:0010738), ABSENT FRONTAL SINUSES(HP:0002688), SPONDYLOLYSIS(HP:0003304), KYPHOSIS(HP:0002808), COXA VARA(HP:0002812), CERVICAL RIBS(HP:0000891), ANTERIOR FONTANELLE OPEN IN ADULTS(HP:0004475), SHORT FEMORAL NECK(HP:0003032), DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680), SYRINGOMYELIA(HP:0003396), DEAFNESS(HP:0000404), SUPERNUMERARY TEETH(HP:0000672), APLASTIC CLAVICLES(HP:0006660), DELAYED ERUPTION OF SECONDARY TEETH(HP:0000696), HYPOPLASTIC ILIAC WINGS(HP:0002866), RESPIRATORY DISTRESS(HP:0002098), CLEFT PALATE(HP:0000175), FRONTAL BOSSING(HP:0002007), WIDE PUBIC SYMPHYSIS(HP:0003183), SHORT SCAPULAE(HP:0000906), LOW NASAL BRIDGE(HP:0000428), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), THICKENED CALVARIA(HP:0002684), LONG SECOND METACARPAL(HP:0006040), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), MICROGNATHIA(HP:0000210), WORMIAN BONES(HP:0002645), SCOLIOSIS(HP:0002650), ABNORMAL FACILITY IN OPPOSING THE SHOULDERS(HP:0005259), PARIETAL BOSSING(HP:0000242), MODERATELY SHORT STATURE(HP:0008848)]
861	RUNX1	[ACUTE MYELOID LEUKEMIA(HP:0004808), MYELODYSPLASIA(HP:0002863), NEUROBLASTOMA(HP:0003006), ABNORMAL PLATELET AGGREGATION(HP:0003540), LYMPHOMA(HP:0002665), CHRONIC LYMPHATIC LEUKEMIA(HP:0005550), FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), ACUTE MONOCYTIC LEUKEMIA(HP:0004845), ECCHYMOSES(HP:0000978), PROLONGED BLEEDING TIME(HP:0003010), THROMBOCYTOPENIA(HP:0001873), ONSET BEFORE AGE 2 YEARS(HP:0003667), AUTOSOMAL DOMINANT SOMATIC CELL MUTATION(HP:0001444), EPISTAXIS(HP:0000421)]
866	SERPINA6	[HYPOTENSION(HP:0002615), HYPERTENSION(HP:0000822), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MUSCLE FATIGUE(HP:0003750), VARIABLE PHENOTYPE(HP:0003813)]
875	CBS	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), MITRAL VALVE PROLAPSE(HP:0001634), THROMBOEMBOLISM(HP:0001907), MYOCARDIAL INFARCTION(HP:0001658), INGUINAL HERNIA(HP:0000023), CEREBROVASCULAR ACCIDENT(HP:0002452), CODFISH VERTEBRAE(HP:0002952), DECREASED MOBILITY OF JOINTS(HP:0001376), FATTY INFILTRATION OF LIVER(HP:0002252), FINE, BRITTLE HAIR(HP:0002299), ECTOPIA LENTIS(HP:0001083), NORMAL TO TALL STATURE(HP:0003516), DENTAL OVERCROWDING(HP:0000678), HIGH-ARCHED PALATE(HP:0000156), OSTEOPOROSIS(HP:0000939), PANCREATITIS(HP:0001733), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), FAILURE TO THRIVE IN INFANCY(HP:0001531), DOLICHOSTENOMELIA(HP:0001519), PSYCHIATRIC DISORDERS(HP:0002368), ARACHNODACTYLY(HP:0001166), PECTUS EXCAVATUM(HP:0000767), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), GLAUCOMA(HP:0000501), HOMOCYSTINURIA(HP:0002156)]
889	KRIT1	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCOMPLETE PENETRANCE(HP:0003829), HEADACHE(HP:0002315), ABNORMALITY OF THE SKIN(HP:0000951), SPORADIC(HP:0003745), HEPATIC VASCULAR MALFORMATIONS(HP:0006576), CEREBRAL CALCIFICATION(HP:0002514), SEIZURES(HP:0001250), ABNORMALITY OF MUSCULATURE(HP:0003011), INTRACRANIAL HEMORRHAGE(HP:0002170), RETINAL VASCULAR MALFORMATIONS(HP:0007797)]
916	CD3E	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LYMPHOPENIA(HP:0001888), MODERATELY SEVERE IMMUNODEFICIENCY(HP:0005371)]
917	CD3G	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IMMUNODEFICIENCY(HP:0002721)]
919	CD247	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715), FAILURE TO THRIVE(HP:0001508), RESPIRATORY ABNORMALITY(HP:0002086), MALABSORPTION(HP:0002024), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), CHRONIC DIARRHEA(HP:0002028)]
920	CD4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
925	CD8A	[RECURRENT BACTERIAL INFECTIONS(HP:0002718), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BRONCHIECTASIS(HP:0002110), ISOLATED ABSENCE OF CD8+ T CELLS(HP:0005422), RECURRENT VIRAL INFECTIONS(HP:0004429), ONSET AT BIRTH(HP:0003577)]
930	CD19	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED IGG LEVEL(HP:0004315), SUSCEPTIBILITY TO INFECTION(HP:0002964)]
948	CD36	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ENDOCRINE ABNORMALITY(HP:0000818), THROMBOCYTOPENIA(HP:0001873), VARIABLE BLEEDING TENDENCIES(HP:0008183), GIANT PLATELETS(HP:0001902), PROLONGED BLEEDING TIME 15-TO->30 MINUTES(HP:0008337)]
950	SCARB2	[INFREQUENT GENERALIZED SEIZURES(HP:0007114), GAIT ATAXIA(HP:0002066), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), MYOCLONUS(HP:0001336), NEPHROTIC SYNDROME(HP:0000100), FOCAL SEGMENTAL GLOMERULOSCLEROSIS(HP:0000097), ACTION TREMOR(HP:0002345), POSTURAL TREMOR(HP:0002174), THROMBOCYTOPENIA(HP:0001873), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), INTENTION TREMOR(HP:0002080), NEPHROPATHY(HP:0000112), CEREBELLAR ATROPHY(HP:0001272)]
958	CD40	[SERUM IGA, IGG, AND IGE SEVERELY DEFICIENT(HP:0002854), LYMPH NODES LACK GERMINAL CENTERS(HP:0002849), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERACTIVITY(HP:0000752), IMMUNODEFICIENCY(HP:0002721), NEUTROPENIA(HP:0001875), PRIMARY DYSFUNCTION OF B-LYMPHOCYTE ISOTYPE SWITCHING AND MEMORY B-CELL GENERATION(HP:0002847), NORMAL OR INCREASED IGM(HP:0002962), HYPERKINESIS(HP:0002487)]
959	CD40LG	[SERUM IGA, IGG, AND IGE SEVERELY DEFICIENT(HP:0002854), LYMPH NODES LACK GERMINAL CENTERS(HP:0002849), IMMUNODEFICIENCY(HP:0002721), RECURRENT BACTERIAL INFECTIONS(HP:0002718), NEUTROPENIA(HP:0001875), THROMBOCYTOPENIA(HP:0001873), DIARRHEA(HP:0002014), HEMOLYTIC ANEMIA(HP:0001878), SPLENOMEGALY(HP:0001744), PRIMARY DYSFUNCTION OF B-LYMPHOCYTE ISOTYPE SWITCHING AND MEMORY B-CELL GENERATION(HP:0002847), NORMAL OR INCREASED IGM(HP:0002962), HYPERKINESIS(HP:0002487), DYSGAMMAGLOBULINEMIA(HP:0002961), DECREASED T CELL ACTIVATION(HP:0005419), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPERACTIVITY(HP:0000752), HEPATOMEGALY(HP:0002240), GINGIVITIS(HP:0000230), STOMATITIS(HP:0010280)]
984	CDK11B	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
999	CDH1	[CHRONIC ATROPHIC GASTRITIS(HP:0002582), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
1001	CDH3	[WIDELY SPACED TEETH(HP:0000687), SYNDACTYLY(HP:0001159), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CAMPTODACTYLY (HANDS)(HP:0010563), BLINDNESS(HP:0000618), ABNORMALITY OF THE SKIN(HP:0000951), ABNORMALITY OF THE NAILS(HP:0001597), ECTRODACTYLY (HANDS)(HP:0001171), CONGENITAL HYPOTRICHOSIS(HP:0004525), SELECTIVE TOOTH AGENESIS(HP:0001592), MICRODONTIA(HP:0000691), SPARSE EYELASHES(HP:0000653), PILI TORTI(HP:0003777), SPARSE EYEBROWS(HP:0000535), PROGRESSIVE JUVENILE MACULAR DYSTROPHY(HP:0007999), SPARSE SCALP HAIR(HP:0002209)]
1019	CDK4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MALIGNANT MELANOMA(HP:0002861), ATYPICAL NEVI (>5MM WITH IRREGULAR EDGE AND PIGMENTATION)(HP:0001062), NUMEROUS NEVI(HP:0001054), ATYPICAL NEVI OFTEN PRESENT IN NON-SUN EXPOSED AREAS(HP:0001074), ISOLATED CASES(HP:0001420)]
1027	CDKN1B	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE URINARY TRACT(HP:0000079), PITUITARY ADENOMA(HP:0002893), ACROMEGALY(HP:0000845)]
1028	CDKN1C	[CARDIOMEGALY(HP:0001640), ACCELERATED SKELETAL MATURATION(HP:0005616), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COARSE FACIAL FEATURES(HP:0000280), CARDIOMYOPATHY(HP:0001638), MACROGLOSSIA(HP:0000158), CRYPTORCHIDISM(HP:0000028), GONADOBLASTOMA(HP:0000150), PROMINENT OCCIPUT(HP:0000269), HEMIHYPERTROPHY(HP:0001528), ADRENOCORTICAL CYTOMEGALY(HP:0008186), PANCREATIC HYPERPLASIA(HP:0006277), NEONATAL HYPOGLYCEMIA(HP:0001998), ABNORMALITY OF THE EYES(HP:0000478), HETEROGENEOUS(HP:0001425), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), HEPATOMEGALY(HP:0002240), LARGE FONTANELLES(HP:0000239), OVERGROWTH(HP:0001548), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), HEPATOBLASTOMA(HP:0002884), DIASTASIS RECTI(HP:0001540), ADRENAL CARCINOMA(HP:0002889), ENLARGED KIDNEYS(HP:0000105), OMPHALOCELE(HP:0001539), ABNORMALITY OF THE EARS(HP:0000598), OVERGROWTH OF EXTERNAL GENITALIA(HP:0003247)]
1029	CDKN2A	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ASTROCYTOMA(HP:0009592), SQUAMOUS CELL CARCINOMA(HP:0002860), ADRENOCORTICAL CARCINOMA(HP:0006744), MALIGNANT MELANOMA(HP:0002861), ACUTE LEUKEMIA(HP:0002488), PANCREATIC ADENOCARCINOMA(HP:0006725), EARLY ONSET(HP:0003593), BREAST CANCER(HP:0003002), COLON CANCER(HP:0003003), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), OSTEOGENIC SARCOMA(HP:0002669)]
1038	CDR1	[IMMUNOLOGICAL ABNORMALITY(HP:0002715), NEUROLOGICAL ABNORMALITY(HP:0000707), X-LINKED INHERITANCE(HP:0001417)]
1041	CDSN	[HYPOTRICHOSIS OF THE SCALP(HP:0004782), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1048	CEACAM5	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
1050	CEBPA	[ACUTE MYELOID LEUKEMIA(HP:0004808), FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
1053	CEBPE	[MITOCHONDRIAL INHERITANCE(HP:0001427), RECURRENT INFECTIONS(HP:0002719), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF NEUTROPHIL(HP:0001874)]
1055	CECR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402), ANAL ATRESIA(HP:0002023), PREAURICULAR SKIN TAG(HP:0000384), MICROPHTHALMOS(HP:0000568), CLEFT PALATE(HP:0000175), HYPERTELORISM(HP:0000316), MENTAL RETARDATION, MILD(HP:0001256), CARDIAC MALFORMATION(HP:0002564), INTESTINAL MALROTATION(HP:0002566), GROWTH ABNORMALITY(HP:0001507), CHOROID COLOBOMA(HP:0000611), TOTAL ANOMALOUS PULMONARY VENOUS RETURN(HP:0005160), IRIS COLOBOMA(HP:0000612), BILIARY DUCT ATRESIA(HP:0005912), PREAURICULAR SINUS(HP:0004467), MICROGNATHIA(HP:0000210), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), LOW-SET EARS(HP:0000369), RENAL AGENESIS(HP:0000104), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
1066	CES1	[METABOLISM ABNORMALITY(HP:0001939), RHEUMATOID ARTHRITIS(HP:0001370), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715), LYMPHOMA(HP:0002665), CHRONIC LYMPHATIC LEUKEMIA(HP:0005550)]
1071	CETP	[ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), METABOLISM ABNORMALITY(HP:0001939), NEUROLOGICAL ABNORMALITY(HP:0000707), ABNORMALITY OF THE SKIN(HP:0000951)]
1075	CTSC	[PES PLANUS(HP:0001763), HETEROGENEOUS(HP:0001425), OSTEOLYTIC DEFECTS OF THE PHALANGES OF THE HAND(HP:0009771), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ARACHNODACTYLY(HP:0001166), LOSS OF TEETH(HP:0000701), CONGENITAL PALMOPLANTAR KERATOSIS(HP:0007545), ATROPHY OF ALVEOLAR RIDGES(HP:0006308), TAPERED, POINTED DISTAL PHALANGES(HP:0006224), RECURRENT BACTERIAL SKIN INFECTIONS(HP:0005406), ONYCHOGRYPOSIS(HP:0001819), SEVERE PERIODONTITIS(HP:0000166), CHOROID PLEXUS CALCIFICATION(HP:0006960), LATE ONSET(HP:0003584)]
1080	CFTR	[MECONIUM ILEUS(HP:0004401), BILIARY CIRRHOSIS(HP:0002613), HETEROGENEOUS(HP:0001425), RECTAL PROLAPSE(HP:0002035), DISTAL INTESTINAL OBSTRUCTION SYNDROME(HP:0002610), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AZOOSPERMIA(HP:0000027), COR PULMONALE(HP:0001648), BRONCHOPULMONARY INFECTION(HP:0006538), ASTHMA(HP:0002099), PANCREATIC INSUFFICIENCY(HP:0002581), MALE INFERTILITY(HP:0003251), CHRONIC LUNG DISEASE(HP:0006528), BRONCHIECTASIS(HP:0002110), DEHYDRATION(HP:0001944), HYPERCALCIURIA(HP:0002150), FAILURE TO THRIVE(HP:0001508), RECURRENT PNEUMONIA(HP:0002095)]
1103	CHAT	[POOR SUCK(HP:0002033), DECREASED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003402), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), EMG SHOWS DECREMENTAL RESPONSE OF COMPOUND MUSCLE ACTION POTENTIAL (CMAP) TO REPETITIVE NERVE STIMULATION(HP:0003403), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GENERALIZED HYPOTONIA DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003397), APNEIC EPISODES PRECIPITATED BY ILLNESS, FATIGUE, STRESS(HP:0002872), RESPIRATORY DISTRESS(HP:0002098), WEAK CRY(HP:0001612), IMMUNOLOGICAL ABNORMALITY(HP:0002715), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), DYSPHAGIA(HP:0002015), POOR FEEDING DUE TO MUSCLE WEAKNESS(HP:0002568), MILD-MODERATE FATIGABLE WEAKNESS OF LIMB MUSCLES(HP:0003473), BULBAR PALSY(HP:0001283), PTOSIS(HP:0000508), SUDDEN EPISODIC APNEA, SEVERE, MAY CAUSE DEATH(HP:0002882), OPHTHALMOPARESIS(HP:0000597), ONSET AT BIRTH OR EARLY CHILDHOOD(HP:0003595), STRABISMUS(HP:0000486), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759)]
1121	CHM	[CHOROIDAL DEGENERATION(HP:0007945), ABNORMALITY OF SKIN PIGMENTATION(HP:0001000), X-LINKED INHERITANCE(HP:0001417), CONSTRICTED VISUAL FIELDS(HP:0001133), CHOROIDAL SCLEROSIS(HP:0001150), PROGRESSIVE VISUAL LOSS(HP:0000529), NIGHT BLINDNESS(HP:0000662), CHOROIDEREMIA(HP:0001139)]
1122	CHML	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CHOROIDEREMIA(HP:0001139)]
1130	LYST	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANEMIA(HP:0001903), NEURODEGENERATION(HP:0002180), MACULAR HYPOPLASIA(HP:0001104), LYMPHADENOPATHY(HP:0002716), LEUKOPENIA(HP:0001882), DECREASED DEEP TENDON REFLEXES(HP:0002467), THROMBOCYTOPENIA(HP:0001873), CRANIAL NERVE PARALYSIS(HP:0006824), PHOTOPHOBIA(HP:0000613), RECURRENT CUTANEOUS AND SYSTEMIC PYOGENIC INFECTIONS(HP:0005429), GAIT DISTURBANCE(HP:0001288), PROGRESSIVE PERIPHERAL NEUROPATHY(HP:0007133), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), TREMOR(HP:0001337), MUSCLE WEAKNESS(HP:0001324), JAUNDICE(HP:0000952), MILD/SEVERE SKIN HYPOPIGMENTATION(HP:0005589), SEIZURES(HP:0001250), HAIR HYPOPIGMENTATION(HP:0005599), GIANT MELANOSOMES IN MELANOCYTES(HP:0005592), SPLENOMEGALY(HP:0001744), MENTAL DEFICIENCY(HP:0001267), MARKEDLY DELAYED NERVE CONDUCTION VELOCITIES(HP:0007218), IMPAIRED VISION(HP:0000505), GINGIVITIS(HP:0000230), REDUCED IRIS PIGMENTATION(HP:0007730), FOOT DROP(HP:0003377), STRABISMUS(HP:0000486)]
1134	CHRNA1	[JOINT DISLOCATION(HP:0001373), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), INTERMITTENT EPISODES OF RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0004889), VARIABLE SEVERITY(HP:0003814), WEAK CRY(HP:0001612), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), IMMUNOLOGICAL ABNORMALITY(HP:0002715), VERTEBRAL FUSION(HP:0002948), HYPERTELORISM(HP:0000316), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), THIN RIBS(HP:0000883), ABNORMAL CERVICAL CURVATURE(HP:0005905), PROLONGED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003479), MULTIPLE PTERYGIA(HP:0001040), BULBAR PALSY(HP:0001283), LOW-SET EARS(HP:0000369), POLYHYDRAMNIOS(HP:0001561), OPHTHALMOPARESIS(HP:0000597), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759), POOR SUCK(HP:0002033), AKINESIA(HP:0002304), DECREASED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003402), LARGE EARS(HP:0000400), MICROBRACHYDACTYLY(HP:0005630), MALIGNANT HYPERTHERMIA(HP:0002047), HIGH-ARCHED PALATE(HP:0000156), MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), PROGRESSIVE DISORDER(HP:0003676), GENERALIZED MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003428), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), EARLY SEVERE FETAL AKINESIA SEQUENCE(HP:0001989), PULMONARY HYPOPLASIA(HP:0002089), FACIAL DYSMORPHISM(HP:0001999), POOR FEEDING DUE TO MUSCLE WEAKNESS(HP:0002568), MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443), RESPIRATORY INSUFFICIENCY(HP:0002093), CYSTIC HYGROMA OF THE NECK(HP:0000476), GENERALIZED AMYOPLASIA(HP:0003634), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), FLAT NOSE(HP:0000457), VARIABLE AGE AT ONSET(HP:0003618), HYPOPLASTIC HEART(HP:0001961), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), HYDROPS(HP:0000990), SCOLIOSIS(HP:0002650), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391)]
1135	CHRNA2	[SEIZURES(HP:0001250), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PSYCHIATRIC DISORDERS(HP:0002368)]
1137	CHRNA4	[HETEROGENEOUS(HP:0001425), MENTAL RETARDATION(HP:0001249), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PARTIAL SEIZURES(HP:0007359), SEIZURES OCCUR IN CLUSTERS(HP:0002279), EPILEPSY(HP:0001275), ONSET IN CHILDHOOD(HP:0003578), CEREBROVASCULAR ACCIDENT(HP:0002452)]
1140	CHRNB1	[EMG SHOWS DECREMENTAL RESPONSE OF COMPOUND MUSCLE ACTION POTENTIAL (CMAP) TO REPETITIVE NERVE STIMULATION(HP:0003403), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LONG FACE(HP:0000276), MUSCLE CRAMPS(HP:0003394), INTERMITTENT EPISODES OF RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0004889), HIGH-ARCHED PALATE(HP:0000156), VARIABLE SEVERITY(HP:0003814), FEEDING DIFFICULTIES(HP:0002022), NONPROGRESSIVE DISORDER(HP:0003680), DENTAL MALOCCLUSION(HP:0000689), DECREASED MUSCLE MASS(HP:0003199), MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), WEAK CRY(HP:0001612), PROGRESSIVE DISORDER(HP:0003676), IMMUNOLOGICAL ABNORMALITY(HP:0002715), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), GENERALIZED MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003428), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), ONSET IN INFANCY(HP:0003576), MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443), ONSET IN CHILDHOOD(HP:0003578), RESPIRATORY INSUFFICIENCY(HP:0002093), MANDIBULAR PROGNATHIA(HP:0000303), FACIAL MUSCLE WEAKNESS(HP:0010628), PROLONGED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003479), VARIABLE AGE AT ONSET(HP:0003618), PTOSIS(HP:0000508), OPHTHALMOPARESIS(HP:0000597), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391), STRABISMUS(HP:0000486), DECREASED FETAL MOVEMENT(HP:0001558), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759)]
1144	CHRND	[JOINT DISLOCATION(HP:0001373), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), INTERMITTENT EPISODES OF RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0004889), VARIABLE SEVERITY(HP:0003814), WEAK CRY(HP:0001612), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), IMMUNOLOGICAL ABNORMALITY(HP:0002715), VERTEBRAL FUSION(HP:0002948), HYPERTELORISM(HP:0000316), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), THIN RIBS(HP:0000883), ABNORMAL CERVICAL CURVATURE(HP:0005905), PROLONGED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003479), MULTIPLE PTERYGIA(HP:0001040), BULBAR PALSY(HP:0001283), LOW-SET EARS(HP:0000369), POLYHYDRAMNIOS(HP:0001561), OPHTHALMOPARESIS(HP:0000597), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759), POOR SUCK(HP:0002033), AKINESIA(HP:0002304), DECREASED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003402), LARGE EARS(HP:0000400), MICROBRACHYDACTYLY(HP:0005630), MALIGNANT HYPERTHERMIA(HP:0002047), HIGH-ARCHED PALATE(HP:0000156), MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), PROGRESSIVE DISORDER(HP:0003676), GENERALIZED MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003428), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), EARLY SEVERE FETAL AKINESIA SEQUENCE(HP:0001989), PULMONARY HYPOPLASIA(HP:0002089), FACIAL DYSMORPHISM(HP:0001999), POOR FEEDING DUE TO MUSCLE WEAKNESS(HP:0002568), MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443), RESPIRATORY INSUFFICIENCY(HP:0002093), CYSTIC HYGROMA OF THE NECK(HP:0000476), GENERALIZED AMYOPLASIA(HP:0003634), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), FLAT NOSE(HP:0000457), VARIABLE AGE AT ONSET(HP:0003618), HYPOPLASTIC HEART(HP:0001961), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), HYDROPS(HP:0000990), SCOLIOSIS(HP:0002650), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391)]
1145	CHRNE	[POOR SUCK(HP:0002033), DECREASED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003402), EMG SHOWS DECREMENTAL RESPONSE OF COMPOUND MUSCLE ACTION POTENTIAL (CMAP) TO REPETITIVE NERVE STIMULATION(HP:0003403), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LONG FACE(HP:0000276), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LARGE EARS(HP:0000400), MUSCLE CRAMPS(HP:0003394), INTERMITTENT EPISODES OF RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0004889), HIGH-ARCHED PALATE(HP:0000156), VARIABLE SEVERITY(HP:0003814), NONPROGRESSIVE DISORDER(HP:0003680), DENTAL MALOCCLUSION(HP:0000689), DECREASED MUSCLE MASS(HP:0003199), MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), WEAK CRY(HP:0001612), PROGRESSIVE DISORDER(HP:0003676), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), IMMUNOLOGICAL ABNORMALITY(HP:0002715), GENERALIZED MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003428), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), POOR FEEDING DUE TO MUSCLE WEAKNESS(HP:0002568), MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443), RESPIRATORY INSUFFICIENCY(HP:0002093), MANDIBULAR PROGNATHIA(HP:0000303), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), FACIAL MUSCLE WEAKNESS(HP:0010628), PROLONGED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003479), BULBAR PALSY(HP:0001283), VARIABLE AGE AT ONSET(HP:0003618), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), SCOLIOSIS(HP:0002650), OPHTHALMOPARESIS(HP:0000597), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391), STRABISMUS(HP:0000486), DECREASED FETAL MOVEMENT(HP:0001558), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759)]
1146	CHRNG	[LONG FACE(HP:0000276), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANTECUBITAL PTERYGIUM(HP:0009760), EPICANTHUS(HP:0000286), ANTERIOR CLEFTING OF VERTEBRAL BODIES(HP:0009761), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), DOWNTURNED CORNERS OF MOUTH(HP:0002714), TALIPES CALCANEOVALGUS(HP:0001884), FUSED CERVICAL VERTEBRAE(HP:0002949), HYPERTELORISM(HP:0000316), HYPOSPADIAS(HP:0000047), NECK PTERYGIA(HP:0009759), INTERCRURAL PTERYGIUM(HP:0009757), POPLITEAL PTERYGIUM(HP:0009756), DIAPHRAGMATIC HERNIA(HP:0000776), LONG PHILTRUM(HP:0000343), THIN RIBS(HP:0000883), KYPHOSIS(HP:0002808), LONG CLAVICLES(HP:0000890), ARTHROGRYPOSIS MULTIPLEX CONGENITA(HP:0002804), ABNORMAL CERVICAL CURVATURE(HP:0005905), CAMPTODACTYLY (FEET)(HP:0001836), MULTIPLE PTERYGIA(HP:0001040), EXTERNAL AUDITORY CANAL EXOSTOSES(HP:0004459), LOW-SET EARS(HP:0000369), UMBILICAL HERNIA(HP:0001537), AXILLARY PTERYGIA(HP:0001060), HYPOPLASTIC NIPPLES(HP:0002557), POLYHYDRAMNIOS(HP:0001561), ABSENCE OF LABIA MAJORA(HP:0008729), TALIPES EQUINOVARUS(HP:0001762), AKINESIA(HP:0002304), BILATERAL CAMPTODACTYLY(HP:0005617), PATELLAR APLASIA(HP:0006443), MICROBRACHYDACTYLY(HP:0005630), MALIGNANT HYPERTHERMIA(HP:0002047), DYSPLASTIC PATELLA(HP:0006446), HEARING LOSS, CONDUCTIVE(HP:0000405), HIGH-ARCHED PALATE(HP:0000156), CLEFT PALATE(HP:0000175), MICROSTOMIA(HP:0000160), DISLOCATED HIPS(HP:0002827), INTRAUTERINE GROWTH RETARDATION(HP:0001511), EARLY SEVERE FETAL AKINESIA SEQUENCE(HP:0001989), RIB FUSION(HP:0000902), PULMONARY HYPOPLASIA(HP:0002089), CYSTIC HYGROMA OF THE NECK(HP:0000476), SYNDACTYLY(HP:0001159), DECREASED BODY HEIGHT(HP:0004322), GENERALIZED AMYOPLASIA(HP:0003634), ARACHNODACTYLY(HP:0001166), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), DISLOCATED RADIAL HEAD(HP:0003083), FLAT NOSE(HP:0000457), CONGENITAL VERTICAL TALUS(HP:0010218), HYPOPLASTIC HEART(HP:0001961), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), NEONATAL RESPIRATORY DISTRESS(HP:0002643), HYDROPS(HP:0000990), DIAPHRAGMATIC EVENTRATION(HP:0009110), SCOLIOSIS(HP:0002650), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
1161	ERCC8	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SMALL, SQUARED OFF PELVIS(HP:0003278), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), CORNEAL CLOUDING(HP:0000515), SALT AND PEPPER RETINAL PIGMENTATION(HP:0001124), MICROPENIS(HP:0000054), HYPERMETROPIA(HP:0000540), KYPHOSIS(HP:0002808), INCREASED CELLULAR SENSITIVITY TO UV LIGHT(HP:0003224), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), REDUCED SUBCUTANEOUS ADIPOSE TISSUE(HP:0003758), DECREASED LACRIMATION(HP:0000633), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), PIGMENTARY RETINOPATHY(HP:0000580), DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680), SEVERE POSTNATAL GROWTH DEFICIENCY(HP:0008932), HYPOGONADISM(HP:0000135), DISTURBED VISUAL AND BRAINSTEM AUDITORY EVOKED RESPONSES INDICATIVE OF CNS DEMYELINATION(HP:0003151), CEREBRAL ATROPHY(HP:0002059), ABSENT/HYPOPLASTIC TEETH(HP:0000688), DENTAL MALOCCLUSION(HP:0000689), ATAXIA(HP:0001251), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), PREMATURELY AGED APPEARANCE(HP:0007495), DYSARTHRIA(HP:0001260), SPLENOMEGALY(HP:0001744), POLYNEUROPATHY(HP:0001271), CARIOUS TEETH(HP:0000670), BASAL GANGLIA CALCIFICATION(HP:0002135), MILD TO MODERATE JOINT LIMITATION(HP:0003101), THICKENED CALVARIA(HP:0002684), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), ABNORMAL MYELINATION IN SURAL NERVE BIOPSIES(HP:0003130), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), MICROCEPHALY(HP:0000252), DEMENTIA(HP:0000726), XERODERMA PIGMENTOSUM(HP:0007415), HYPERTENSION(HP:0000822), LOSS OF FACIAL ADIPOSE TISSUE(HP:0000292), MANDIBULAR PROGNATHIA(HP:0000303), DYSMYELINATION(HP:0003469), GAIT DISTURBANCE(HP:0001288), WIZENED FACE(HP:0000335), TREMOR(HP:0001337), MENSTRUAL IRREGULARITIES(HP:0000858), ABNORMAL FORM OF EARS(HP:0000377), PATCHY DEMYELINATION OF SUBCORTICAL WHITE MATTER(HP:0002545), DRY SKIN(HP:0000958), WEAKNESS(HP:0002309), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPLASTIC ILIAC WINGS(HP:0002866), NORMAL PRESSURE HYDROCEPHALUS(HP:0002343), INTRAUTERINE GROWTH RETARDATION(HP:0001511), SLENDER NOSE(HP:0000417), CACHECTIC DWARFISM(HP:0001424), IVORY EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010234), ABNORMALITY OF SKIN PIGMENTATION(HP:0001000), THYMIC HORMONE DECREASED(HP:0003357), PHOTOSENSITIVITY(HP:0000992), ATYPICAL SCARRING(HP:0000987), ANHIDROSIS(HP:0000970), STRABISMUS(HP:0000486)]
1180	CLCN1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOTONIA IS MOST PRONOUNCED IN THE EXTREMITIES(HP:0003632), DELAYED RELAXATION OF MUSCLE FIBERS AFTER CONTRACTION(HP:0003754), HIGHLY VARIABLE PHENOTYPE AND SEVERITY(HP:0003821), MYOTONIA (USUALLY OCCURS DURING RAPID VOLUNTARY MUSCLE MOVEMENTS AFTER A PERIOD OF REST)(HP:0003792), MUSCLE STIFFNESS(HP:0003552), EMG SHOWS SPONTANEOUS, REPETITIVE ELECTRICAL ACTIVITY ('MYOTONIC RUNS')(HP:0003730), MYOTONIA IMPROVES WITH CONTINUED ACTIVITY ('WARM-UP PHENOMENON')(HP:0003740), MYALGIA(HP:0003326), DYSPHAGIA(HP:0002015), MUSCLE WEAKNESS(HP:0001324), ONSET IN CHILDHOOD OR ADOLESCENCE(HP:0003661), PERCUSSION MYOTONIA(HP:0010548), MUSCLE HYPERTROPHY OF THE LOWER EXTREMITIES(HP:0008968)]
1184	CLCN5	[RICKETS(HP:0002748), OSTEOMALACIA(HP:0002749), FOCAL GLOMERULOSCLEROSIS(HP:0004747), RENAL INSUFFICIENCY, PROGRESSIVE(HP:0001918), INTERSTITIAL FIBROSIS(HP:0000129), INCREASED SERUM 1,25-DIHYDROXYVITAMIN D3(HP:0003152), CURVATURES OF THE FEMUR, TIBIA, FIBULA(HP:0002976), BOWING OF THE LEGS(HP:0002979), ENLARGED EPIPHYSES(HP:0010580), VARIABLE PHENOTYPE(HP:0003813), SLOW PROGRESSION(HP:0003677), KIDNEY STONES(HP:0000787), HYPOPHOSPHATEMIC RICKETS(HP:0004912), DECREASED BODY HEIGHT(HP:0004322), RENAL FAILURE IN ADULTHOOD(HP:0000084), LATE OSSIFYING EPIPHYSES(HP:0002663), X-LINKED RECESSIVE INHERITANCE(HP:0001419), TUBULAR ATROPHY(HP:0000092), GLYCOSURIA(HP:0003076), FRAYED, IRREGULAR METAPHYSES(HP:0003017), ENLARGEMENT OF THE WRISTS(HP:0003020), BONE PAIN(HP:0002653), LOW-MOLECULAR-WEIGHT PROTEINURIA(HP:0003126), 'BULGING' EPIPHYSES(HP:0003013), HYPERCALCIURIA(HP:0002150), A SUBSET OF PATIENTS DEVELOP RENAL INSUFFICIENCY WITH DECREASED CREATININE CLEARANCE(HP:0004723), DECREASED RENAL TUBULAR PHOSPHATE REABSORPTION(HP:0000117), AMINOACIDURIA(HP:0002903), PROXIMAL RENAL TUBULE DEFECT(HP:0000114), MICROSCOPIC HEMATURIA(HP:0002907), THIN BONY CORTEX(HP:0002753), SPARSE BONE TRABECULAE(HP:0002752), RECURRENT FRACTURES(HP:0002757), NEPHROCALCINOSIS(HP:0000121), HYPERPHOSPHATURIA(HP:0003109), ENLARGEMENT OF THE ANKLES(HP:0003029)]
1186	CLCN7	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ELEVATED SERUM ACID PHOSPHATASE(HP:0003148), FACIAL PARALYSIS DUE TO CRANIAL NERVE VII COMPRESSION(HP:0007209), FRACTURES OF THE LONG BONES(HP:0003084), OSTEOSCLEROSIS, DIFFUSE SYMMETRICAL(HP:0005789), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), HIP OSTEOARTHRITIS(HP:0008843), ABNORMALITY OF THE PELVIS(HP:0002644), MANDIBULAR OSTEOMYELITIS(HP:0007626), ONSET IN CHILDHOOD(HP:0003578)]
1187	CLCNKA	[HEARING LOSS, SENSORINEURAL(HP:0000407), HYPERALDOSTERONISM(HP:0005975), MUSCULAR HYPOTONIA(HP:0001252), MENTAL RETARDATION(HP:0001249), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), ONSET IN UTERO(HP:0003660), HYPOREFLEXIA(HP:0001265), HYPOKALEMIC HYPOCHLOREMIC METABOLIC ALKALOSIS(HP:0004909), PREMATURE BIRTH(HP:0001622), INCREASED URINARY CHLORIDE(HP:0002914), HETEROGENEOUS(HP:0001425), INCREASED URINARY POTASSIUM(HP:0003081), RENAL FAILURE(HP:0000083), POLYURIA(HP:0000103), HYDROPS(HP:0000990), INCREASED URINARY SODIUM(HP:0003608), HYPOCHLOREMIA(HP:0003113), POLYHYDRAMNIOS(HP:0001561), HYPONATREMIA(HP:0002902), FETAL POLYURIA(HP:0001563), HYPOKALEMIA(HP:0002900), RENAL SALT WASTING(HP:0000127)]
1188	CLCNKB	[HYPOTENSION(HP:0002615), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RENAL POTASSIUM WASTING(HP:0000128), HYPERALDOSTERONISM(HP:0005975), HEARING LOSS, SENSORINEURAL(HP:0000407), GLOBAL GLOMERULOSCLEROSIS(HP:0004737), HYDROPS FETALIS(HP:0001789), MUSCULAR HYPOTONIA(HP:0001252), MENTAL RETARDATION(HP:0001249), ABNORMALITY OF THE RETINAL VASCULATURE(HP:0008046), GENERALIZED MUSCLE WEAKNESS(HP:0003324), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), LOSS OF DEFINITION OF CORTICOMEDULLARY DIFFERENTIATION(HP:0005573), ONSET IN UTERO(HP:0003660), HYPOREFLEXIA(HP:0001265), HYPOKALEMIC HYPOCHLOREMIC METABOLIC ALKALOSIS(HP:0004909), IMPAIRED REABSORPTION OF CHLORIDE(HP:0005579), PREMATURE BIRTH(HP:0001622), ABNORMALITY OF THE CHOROID(HP:0000610), INCREASED URINARY CHLORIDE(HP:0002914), HETEROGENEOUS(HP:0001425), INCREASED URINARY POTASSIUM(HP:0003081), RENAL FAILURE(HP:0000083), POLYURIA(HP:0000103), INCREASED PLASMA RENIN(HP:0000848), HYDROPS(HP:0000990), INCREASED URINARY SODIUM(HP:0003608), RENAL BIOPSY SHOWS TUBULOINTERSTITIAL FIBROSIS(HP:0004714), HYPOCALCIURIA(HP:0003127), DEHYDRATION(HP:0001944), ABNORMALITY OF THE SCLERA(HP:0000591), HYPERCALCIURIA(HP:0002150), HYPOCHLOREMIA(HP:0003113), POLYHYDRAMNIOS(HP:0001561), HYPONATREMIA(HP:0002902), FETAL POLYURIA(HP:0001563), HYPOKALEMIA(HP:0002900), HYPERACTIVE RENIN-ANGIOTENSIN SYSTEM(HP:0000841), NEPHROCALCINOSIS(HP:0000121)]
1200	TPP1	[ABOLISHED ELECTRORETINOGRAM (ERG)(HP:0000550), RETINAL DEGENERATION(HP:0000546), NEUROPHYSIOLOGICAL ABNORMALITY(HP:0001311), LIPOPIGMENT IN EXTRANEURONAL CELLS(HP:0003463), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074), 'CURVILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003205), SPEECH AND LANGUAGE DIFFICULTIES(HP:0002399), CEREBRAL ATROPHY(HP:0002059), MYOCLONUS(HP:0001336), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL REGRESSION AFTER AGE 2 YEARS(HP:0006828), PROGRESSIVE VISUAL LOSS(HP:0000529)]
1201	CLN3	[ABOLISHED ELECTRORETINOGRAM (ERG)(HP:0000550), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074), PROGRESSIVE VISUAL LOSS (4 TO 10 YEARS)(HP:0000560), CEREBRAL ATROPHY(HP:0002059), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), PSYCHOMOTOR DEGENERATION(HP:0002361), MACULAR DEGENERATION(HP:0000608), LIPOPIGMENT IN EXTRANEURONAL CELLS(HP:0003463), PROGRESSIVE INABILITY TO WALK(HP:0002505), ANXIETY(HP:0000739), BLINDNESS(HP:0000618), MOOD ALTERATIONS(HP:0001296), PARKINSONISM(HP:0001300), 'CURVILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003205), 'FINGERPRINT' PROFILES ULTRASTRUCTURALLY(HP:0003208), MYOCLONUS(HP:0001336), RETINITIS PIGMENTOSA(HP:0000510), PSYCHOSIS(HP:0000709), VACUOLATED LYMPHOCYTES(HP:0001922), ABNORMALITY OF THE CEREBELLUM(HP:0001317), DEMENTIA(HP:0000726)]
1203	CLN5	[RETINAL DEGENERATION(HP:0000546), NEUROPHYSIOLOGICAL ABNORMALITY(HP:0001311), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), 'RECTILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003226), CLUMSINESS(HP:0002312), AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074), DEVELOPMENTAL REGRESSION(HP:0002376), 'CURVILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003205), 'FINGERPRINT' PROFILES ULTRASTRUCTURALLY(HP:0003208), MOTOR DETERIORATION(HP:0002333), MYOCLONUS(HP:0001336), ATAXIA(HP:0001251), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), PROGRESSIVE VISUAL LOSS(HP:0000529)]
1244	ABCC2	[JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BILIARY TRACT ABNORMALITY(HP:0001080), CONJUGATED HYPERBILIRUBINEMIA(HP:0002908)]
1258	CNGB1	[RETINITIS PIGMENTOSA(HP:0000510), CONSTRICTED VISUAL FIELDS(HP:0001133), NIGHT BLINDNESS(HP:0000662)]
1261	CNGA3	[PHOTOPHOBIA(HP:0000613), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BLINDNESS(HP:0000618), NYSTAGMUS(HP:0000639)]
1272	CNTN1	[POOR SUCK(HP:0002033), AKINESIA(HP:0002304), JOINT CONTRACTURES(HP:0001372), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CAMPTODACTYLY (HANDS)(HP:0010563), SCAPHOCEPHALY(HP:0000258), HIGH-ARCHED PALATE(HP:0000156), DEATH IN INFANCY(HP:0001522), HYPERTELORISM(HP:0000316), LOW BIRTH WEIGHT(HP:0001518), OVAL FACE(HP:0000300), ARACHNODACTYLY(HP:0001166), POLYHYDRAMNIOS(HP:0001561), ABSENT DEEP TENDON REFLEXES(HP:0001314), DECREASED FETAL MOVEMENT(HP:0001558), OVERLAPPING FINGERS(HP:0010557), NEONATAL HYPOTONIA(HP:0001319)]
1277	COL1A1	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), MITRAL VALVE PROLAPSE(HP:0001634), CONGESTIVE HEART FAILURE(HP:0001635), BOWEL DIVERTICULA(HP:0005222), DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), SMALL, IRREGULARLY PLACED TEETH(HP:0009081), TIBIAL BOWING(HP:0002982), EPICANTHUS(HP:0000286), PULMONARY INSUFFICIENCY(HP:0010444), WIDE ANTERIOR FONTANEL(HP:0000260), INGUINAL HERNIA(HP:0000023), CODFISH VERTEBRAE(HP:0002952), CONGENITAL BILATERAL HIP DISLOCATION(HP:0008780), BICONCAVE FLATTENED VERTEBRAE(HP:0003321), JOINT LAXITY(HP:0001388), SOFT CALVARIA(HP:0002701), PLATYBASIA(HP:0002691), BREECH PRESENTATION(HP:0001623), PREMATURE BIRTH(HP:0001622), KYPHOSIS(HP:0002808), FRAGILE SKIN(HP:0001030), TRIANGULAR FACIES(HP:0000325), MILD OSTEOPENIA(HP:0002799), SEVERE OSTEOPOROSIS(HP:0005897), SPORADIC(HP:0003745), THIN, GRACILE LONG BONES(HP:0003060), BROAD CRUMPLED LONG BONES(HP:0006367), BOWING OF LIMBS DUE TO MULTIPLE FRACTURES(HP:0003023), POOR WOUND HEALING(HP:0001058), SHORT-LIMB DWARFISM IDENTIFIABLE AT BIRTH(HP:0001536), UMBILICAL HERNIA(HP:0001537), MILD TO MODERATE SHORT STATURE(HP:0003503), ECTOPIA LENTIS(HP:0001083), BLUE SCLERAE(HP:0000592), CIGARETTE-PAPER SCARS(HP:0001073), RECURRENT FRACTURES(HP:0002757), OTOSCLEROSIS(HP:0000362), PES PLANUS(HP:0001763), HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), AORTIC ROOT DILATATION(HP:0002616), DENTINOGENESIS IMPERFECTA(HP:0000703), LOP EARS(HP:0000394), FEMORAL BOWING PRESENT AT BIRTH, STRAIGHTENING WITH TIME(HP:0005005), OCCASIONAL FEMORAL BOWING(HP:0004998), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), NONIMMUNE HYDROPS FETALIS(HP:0001790), MULTIPLE PRENATAL FRACTURES(HP:0005855), BEAKED NOSE(HP:0000444), FRONTAL BOSSING(HP:0002007), BEADED RIBS(HP:0000923), NARROW MAXILLA(HP:0002010), PROTRUSIO ACETABULI(HP:0003179), MILD JOINT HYPERMOBILITY(HP:0005034), LOW BIRTH WEIGHT(HP:0001518), PULMONARY HYPERTENSION(HP:0002092), RESPIRATORY INSUFFICIENCY(HP:0002093), PREMATURE OSTEOARTHRITIS(HP:0003088), MOLLUSCOID PSEUDOTUMORS(HP:0000993), MICROGNATHIA(HP:0000210), LARGE FONTANELLES(HP:0000239), HYDROPS(HP:0000990), WORMIAN BONES(HP:0002645), ECCHYMOSES(HP:0000978), SCOLIOSIS(HP:0002650), SOFT SKIN(HP:0000977), FEVER(HP:0001945), EDEMA(HP:0000969), SOMATIC MOSAICISM(HP:0001442), PREMATURE BIRTH FOLLOWING PREMATURE RUPTURE OF FETAL MEMBRANES(HP:0005100), HYPEREXTENSIBLE SKIN(HP:0000974), THIN SKIN(HP:0000963)]
1278	COL1A2	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MITRAL VALVE PROLAPSE(HP:0001634), DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), AORTIC INSUFFICIENCY(HP:0001659), INGUINAL HERNIA(HP:0000023), MITRAL REGURGITATION(HP:0001653), CONGENITAL BILATERAL HIP DISLOCATION(HP:0008780), BICONCAVE FLATTENED VERTEBRAE(HP:0003321), JOINT LAXITY(HP:0001388), BREECH PRESENTATION(HP:0001623), KYPHOSIS(HP:0002808), CALCANEOVALGUS DEFORMITIES(HP:0001848), MILD OSTEOPENIA(HP:0002799), POOR WOUND HEALING(HP:0001058), MILD TO MODERATE SHORT STATURE(HP:0003503), BLUE SCLERAE(HP:0000592), ATROPHIC SCARS(HP:0001075), RECURRENT FRACTURES(HP:0002757), OTOSCLEROSIS(HP:0000362), PES PLANUS(HP:0001763), HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), OCCASIONAL FEMORAL BOWING(HP:0004998), MUSCULAR HYPOTONIA(HP:0001252), GENU RECURVATUM(HP:0002816), ABNORMALITY OF THE TEETH(HP:0000164), MILD JOINT HYPERMOBILITY(HP:0005034), PREMATURE OSTEOARTHRITIS(HP:0003088), PECTUS EXCAVATUM(HP:0000767), AORTIC DILATATION(HP:0001724), WORMIAN BONES(HP:0002645), METABOLISM ABNORMALITY(HP:0001939), ECCHYMOSES(HP:0000978), SCOLIOSIS(HP:0002650), SOFT SKIN(HP:0000977), HYPEREXTENSIBLE SKIN(HP:0000974), THIN SKIN(HP:0000963)]
1280	COL2A1	[MALAR HYPOPLASIA(HP:0000272), SHORT STATURE, DISPROPORTIONATE (SHORT TRUNK)(HP:0003521), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MITRAL VALVE PROLAPSE(HP:0001634), ACETABULAR SPURS(HP:0010454), ABNORMAL CARTILAGE COLLAGEN ON EM(HP:0008271), ABSENT TALUS AND CALCANEAL OSSIFICATION IN INFANCY(HP:0008142), LUMBAR KYPHOSCOLIOSIS(HP:0004619), HYPOPLASTIC PELVIC BONES(HP:0008816), INGUINAL HERNIA(HP:0000023), ABSENT PUBIC OSSIFICATION IN INFANCY(HP:0008827), SHORT ULNA(HP:0002998), PROGRESSIVE MYOPIA(HP:0001110), HIP CONTRACTURES(HP:0003273), CATARACT(HP:0000518), ROUND FACE(HP:0000311), ANTERIOR BEAKING OF VERTEBRAL BODIES(HP:0003313), C1-C2 SUBLUXATION(HP:0003320), STILLBORN OR DEATH SHORTLY AFTER BIRTH(HP:0001625), IRREGULAR VERTEBRAL ENDPLATES(HP:0003301), OVOID VERTEBRAL BODIES(HP:0003300), PECTUS CARINATUM(HP:0000768), DELAYED PUBIC BONE OSSIFICATION(HP:0008788), JOINT STIFFNESS(HP:0001387), DETACHED RETINA(HP:0000541), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), PROMINENT EYES(HP:0000536), LIMITED ELBOW EXTENSION(HP:0001377), 'PUGILISTIC FACIES'(HP:0000339), COXA VARA(HP:0002812), BLINDNESS(HP:0000618), ARTHROPATHY(HP:0003040), SHORT, HORIZONTAL RIBS(HP:0000888), FLATTENED EPIPHYSES(HP:0003071), WADDLING GAIT(HP:0002515), HYPOPLASIA OF THE TOES(HP:0004701), MILD SPONDYLOEPIPHYSEAL DYSPLASIA(HP:0002776), SPLAYED EPIPHYSES AND METAPHYSES(HP:0004978), TRACHEOMALACIA(HP:0002779), ANTERIORLY SPLAYED RIBS(HP:0006601), UMBILICAL HERNIA(HP:0001537), PROTUBERANT ABDOMEN(HP:0001538), POLYHYDRAMNIOS(HP:0001561), MARKED MICROMELIC DWARFISM(HP:0003509), ENLARGED JOINTS(HP:0003037), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), RENAL TUBULAR DYSFUNCTION(HP:0000124), CONDUCTIVE DEAFNESS(HP:0000367), BARREL-SHAPED CHEST(HP:0001552), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), SHORT FEET(HP:0001766), RECURRENT OTITIS MEDIA(HP:0000403), CERVICAL MYELOPATHY(HP:0002318), GENU VALGUM(HP:0002857), HEARING LOSS, SENSORINEURAL(HP:0000407), CORONAL CLEFT VERTEBRAE(HP:0003417), SHORT, BROAD THUMBS(HP:0001240), HYDROPS FETALIS(HP:0001789), SHORT TRUNK(HP:0001524), RESPIRATORY DISTRESS(HP:0002098), VITREORETINAL DEGENERATION(HP:0000655), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), CLUB-SHAPED PROXIMAL FEMURS(HP:0006406), SHORT TUBULAR BONES (HAND)(HP:0001248), VERY SHORT, BROAD TUBULAR BONES(HP:0005044), ARTHRALGIA(HP:0002829), FLATTENED, SQUARED-OFF EPIPHYSES OF TUBULAR BONES(HP:0006172), DISLOCATED HIPS(HP:0002827), FLAT, IRREGULAR FEMORAL EPIPHYSES(HP:0006412), FLATTENED NASAL BRIDGE(HP:0000425), SHORT PROXIMAL AND MIDDLE PHALANGES(HP:0006144), BRACHYDACTYLY E-LIKE CHANGES(HP:0006115), LOW NASAL BRIDGE(HP:0000428), RESTRICTIVE LUNG DISEASE(HP:0002091), DOLICHOSTENOMELIA(HP:0001519), DIMINISHED JOINT MOBILITY AT ELBOWS, KNEES, AND HIPS(HP:0005030), HYPOPLASTIC PUBIC BONES(HP:0003173), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), HORIZONTAL ACETABULAR ROOF(HP:0003171), ABSENT VERTEBRAL BODY MINERALIZATION(HP:0004605), CYSTIC HYGROMA OF THE NECK(HP:0000476), PIERRE-ROBIN SEQUENCE(HP:0000201), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), DELAYED MOTOR MILESTONES(HP:0002130), SHORT NECK(HP:0000470), PLATYSPONDYLY WITH ANTERIOR WEDGING(HP:0004595), DWARFISM, SHORT-TRUNK, SHORT-LIMBED(HP:0008867), ARACHNODACTYLY(HP:0001166), NARES, ANTEVERTED(HP:0000463), BROAD HANDS(HP:0001169), EPIPHYSEAL DYSPLASIA(HP:0002656), PECTUS EXCAVATUM(HP:0000767), LATE OSSIFYING EPIPHYSES(HP:0002663), ABSENT STYLOID PROCESSES(HP:0005068), LUMBAR HYPERLORDOSIS(HP:0002938), SCLEROTIC, IRREGULAR METAPHYSES(HP:0005062), MILD PLATYSPONDYLY(HP:0002940), SHORT, DUMBBELL APPEARANCE OF LONG BONES(HP:0005061), FLAT CAPITAL FEMORAL EPIPHYSES(HP:0003370), HYDROPS(HP:0000990), HIP OSTEOARTHRITIS(HP:0008843), METABOLISM ABNORMALITY(HP:0001939), NARROW GREATER SACROSCIATIC NOTCHES(HP:0003375), GLAUCOMA(HP:0000501), SMALL ILIAC WINGS WITH CONCAVE INFERIOR AND MEDIAL MARGIN(HP:0008837), SOMATIC MOSAICISM(HP:0001442), SHORT-TRUNK DWARFISM IDENTIFIABLE AT BIRTH(HP:0008857)]
1281	COL3A1	[TALIPES EQUINOVARUS(HP:0001762), JOINT DISLOCATION(HP:0001373), UTERINE PROLAPSE(HP:0000139), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), OSTEOLYTIC DEFECTS OF THE PHALANGES OF THE HAND(HP:0009771), MITRAL VALVE PROLAPSE(HP:0001634), HYPERMOBILITY OF DISTAL INTERPHALANGEAL JOINTS(HP:0006201), LOSS OF TEETH(HP:0000701), KERATOCONUS(HP:0000563), INGUINAL HERNIA(HP:0000023), LOBELESS EARS(HP:0000387), MILD SKIN HYPEREXTENSIBILITY(HP:0007493), HEMOPTYSIS(HP:0002105), SPONTANEOUS PNEUMOTHORAX(HP:0002108), JOINT LAXITY(HP:0001388), CEREBRAL ANEURYSM(HP:0004944), ABNORMALITY OF THE URINARY TRACT(HP:0000079), DECREASED BODY HEIGHT(HP:0004322), FRAGILE SKIN(HP:0001030), ACROOSTEOLYSIS (FEET)(HP:0001842), MOLLUSCOID PSEUDOTUMORS(HP:0000993), THIN LIPS(HP:0000213), STRIAE DISTENSAE(HP:0001065), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), ECCHYMOSES(HP:0000978), PERIODONTAL DISEASE(HP:0000704), SOFT SKIN(HP:0000977), ALOPECIA OF SCALP(HP:0002293), PREMATURE DELIVERY BECAUSE OF CERVICAL INSUFFICIENCY OR MEMBRANE FRAGILITY(HP:0005267), CIGARETTE-PAPER SCARS(HP:0001073), OSTEOARTHRITIS(HP:0002758)]
1282	COL4A1	[AXENFELD ANOMALY(HP:0001492), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOPIGMENTATION OF THE FUNDUS(HP:0007894), RIEGER ANOMALY(HP:0000558), MIGRAINE WITH AURA(HP:0002077), VARIABLE SEVERITY(HP:0003814), SCOTOMA(HP:0000575), LIMB DYSTONIA(HP:0002451), AGE OF ONSET(HP:0003674), CONGENITAL CATARACT(HP:0000519), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), AMBLYOPIA(HP:0000646), SPASTICITY(HP:0001257), HEMIPARESIS(HP:0001269), DETACHED RETINA(HP:0000541), NEUROPSYCHOLOGIC COGNITIVE ABNORMALITIES(HP:0006972), RETINAL ARTERIOLAR TORTUOSITY(HP:0001136), PORENCEPHALY(HP:0002132), ISCHEMIC STROKE(HP:0002140), HYPOPIGMENTATION OF THE SKIN(HP:0001010), POSTERIOR LEUKOENCEPHALOPATHY(HP:0006859), BABINSKI SIGN(HP:0003487), EXOTROPIA(HP:0000577), HYDROCEPHALUS(HP:0000238), HEMIPLEGIA(HP:0002301), BLURRED VISION, EPISODIC(HP:0007723), PARTIAL ALBINISM(HP:0007443), TETRAPARESIS(HP:0002273)]
1285	COL4A3	[HEMATURIA(HP:0000790), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RENAL FAILURE(HP:0000083), HEARING LOSS(HP:0000365), NEPHRITIS(HP:0000123)]
1286	COL4A4	[HEMATURIA(HP:0000790), HETEROGENEOUS(HP:0001425), RENAL FAILURE(HP:0000083), HEARING LOSS(HP:0000365), NEPHRITIS(HP:0000123)]
1287	COL4A5	[HYPERTENSION(HP:0000822), ICHTHYOSIS(HP:0000955), HYPOPARATHYROIDISM(HP:0000829), HEARING LOSS, SENSORINEURAL(HP:0000407), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), X-LINKED INHERITANCE(HP:0001417), CONGENITAL CATARACT(HP:0000519), THROMBOCYTOPENIA(HP:0001873), DIFFUSE LEIOMYOMATOSIS(HP:0006756), MICROSCOPIC HEMATURIA(HP:0002907), LENTICONUS(HP:0001142), NEPHRITIS(HP:0000123)]
1288	COL4A6	[IMPAIRED RENAL FUNCTION(HP:0000087), PROTEINURIA(HP:0000093), TRACHEOBRONCHIAL LEIOMYOMATOSIS(HP:0006524), HEMATURIA(HP:0000790), CATARACT(HP:0000518), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), DIFFUSE LEIOMYOMATOSIS(HP:0006756), LENTICONUS(HP:0001142), DYSPNEA(HP:0002094), HIGH-TONE SENSORINEURAL DEAFNESS(HP:0001757)]
1289	COL5A1	[PES PLANUS(HP:0001763), JOINT DISLOCATION(HP:0001373), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), MITRAL VALVE PROLAPSE(HP:0001634), BOWEL DIVERTICULA(HP:0005222), SMALL, IRREGULARLY PLACED TEETH(HP:0009081), VARICOSE VEINS(HP:0002619), EPICANTHUS(HP:0000286), AORTIC ROOT DILATATION(HP:0002616), LOP EARS(HP:0000394), INGUINAL HERNIA(HP:0000023), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), NARROW MAXILLA(HP:0002010), JOINT LAXITY(HP:0001388), DECREASED BODY HEIGHT(HP:0004322), FRAGILE SKIN(HP:0001030), MOLLUSCOID PSEUDOTUMORS(HP:0000993), ECCHYMOSES(HP:0000978), POOR WOUND HEALING(HP:0001058), SOFT SKIN(HP:0000977), UMBILICAL HERNIA(HP:0001537), ECTOPIA LENTIS(HP:0001083), BLUE SCLERAE(HP:0000592), PREMATURE BIRTH FOLLOWING PREMATURE RUPTURE OF FETAL MEMBRANES(HP:0005100), HYPEREXTENSIBLE SKIN(HP:0000974), CIGARETTE-PAPER SCARS(HP:0001073), OSTEOARTHRITIS(HP:0002758)]
1290	COL5A2	[JOINT DISLOCATION(HP:0001373), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), MITRAL VALVE PROLAPSE(HP:0001634), BOWEL DIVERTICULA(HP:0005222), SMALL, IRREGULARLY PLACED TEETH(HP:0009081), EPICANTHUS(HP:0000286), INGUINAL HERNIA(HP:0000023), JOINT HYPERMOBILITY(HP:0001382), FRAGILE SKIN(HP:0001030), POOR WOUND HEALING(HP:0001058), UMBILICAL HERNIA(HP:0001537), ECTOPIA LENTIS(HP:0001083), BLUE SCLERAE(HP:0000592), CIGARETTE-PAPER SCARS(HP:0001073), OSTEOARTHRITIS(HP:0002758), PES PLANUS(HP:0001763), AORTIC ROOT DILATATION(HP:0002616), LOP EARS(HP:0000394), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), NARROW MAXILLA(HP:0002010), DECREASED BODY HEIGHT(HP:0004322), MOLLUSCOID PSEUDOTUMORS(HP:0000993), ECCHYMOSES(HP:0000978), SOFT SKIN(HP:0000977), PREMATURE BIRTH FOLLOWING PREMATURE RUPTURE OF FETAL MEMBRANES(HP:0005100)]
1291	COL6A1	[RECURRENT CHEST INFECTIONS(HP:0004884), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RESPIRATORY FAILURE DUE TO MUSCLE WEAKNESS MAY OCCUR IN LATE STAGES(HP:0004888), VARIABLE SEVERITY(HP:0003814), DISTAL MUSCLE WEAKNESS(HP:0002460), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), LONG, HYPEREXTENSIBLE FINGERS(HP:0006010), ROUND FACE(HP:0000311), DECREASED FETAL MOVEMENTS MAY OCCUR(HP:0007631), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), LIMB-GIRDLE MUSCLE WEAKNESS(HP:0003325), JOINT LAXITY(HP:0001388), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), ONSET IN EARLY CHILDHOOD(HP:0003580), ONSET IN INFANCY(HP:0003576), SPINAL RIGIDITY(HP:0003306), TORTICOLLIS, CONGENITAL(HP:0005988), KYPHOSIS(HP:0002808), MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211), LOW WEIGHT(HP:0001823), MUSCLE WEAKNESS, SEVERE(HP:0008979), MUSCLE FIBER NECROSIS(HP:0003713), FACIAL MUSCLE WEAKNESS, MILD(HP:0000353), NEONATAL HYPOTONIA(HP:0001319), TALIPES EQUINOVARUS(HP:0001762), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES(HP:0003705), PROMINENT EARS(HP:0000412), PROXIMAL MUSCLE WEAKNESS(HP:0003701), GENERALIZED AMYOTROPHY(HP:0003700), HIGH-ARCHED PALATE(HP:0000156), FEEDING DIFFICULTIES(HP:0002022), NOCTURNAL HYPOVENTILATION(HP:0002877), INCREASED LAXITY OF ANKLES(HP:0006460), FOLLICULAR HYPERKERATOSIS(HP:0007502), SLOW PROGRESSION(HP:0003677), PROGRESSIVE DISORDER(HP:0003676), ASTHENIC HABITUS(HP:0001533), DISLOCATED HIPS(HP:0002827), FAILURE TO THRIVE(HP:0001508), INCREASED LAXITY OF FINGERS(HP:0006149), RESPIRATORY INSUFFICIENCY(HP:0002093), DELAYED MOTOR MILESTONES(HP:0002130), HYPEREXTENSIBILITY AT WRISTS(HP:0005072), CONTRACTURES OF THE ANKLES(HP:0006466), SCOLIOSIS(HP:0002650), HYPERHIDROSIS(HP:0000975), INTEROSSEUS MUSCLE ATROPHY(HP:0007181), INCREASED SERUM CREATINE KINASE(HP:0002147)]
1292	COL6A2	[RECURRENT CHEST INFECTIONS(HP:0004884), JOINT CONTRACTURES(HP:0001372), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RESPIRATORY FAILURE DUE TO MUSCLE WEAKNESS MAY OCCUR IN LATE STAGES(HP:0004888), VARIABLE SEVERITY(HP:0003814), DISTAL MUSCLE WEAKNESS(HP:0002460), DECREASED PULMONARY FUNCTION(HP:0005952), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), LONG, HYPEREXTENSIBLE FINGERS(HP:0006010), ROUND FACE(HP:0000311), DECREASED FETAL MOVEMENTS MAY OCCUR(HP:0007631), LIMB-GIRDLE MUSCLE WEAKNESS(HP:0003325), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), THORACOLUMBAR SCOLIOSIS(HP:0002944), JOINT LAXITY(HP:0001388), INCREASED CONNECTIVE TISSUE(HP:0009025), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), RESTRICTED NECK MOVEMENT DUE TO CONTRACTURES(HP:0005997), ONSET IN EARLY CHILDHOOD(HP:0003580), ONSET IN INFANCY(HP:0003576), TORTICOLLIS, CONGENITAL(HP:0005988), SPINAL RIGIDITY(HP:0003306), KYPHOSIS(HP:0002808), MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211), LOW WEIGHT(HP:0001823), MUSCLE WEAKNESS, SEVERE(HP:0008979), MUSCLE FIBER NECROSIS(HP:0003713), FACIAL MUSCLE WEAKNESS, MILD(HP:0000353), NEONATAL HYPOTONIA(HP:0001319), TALIPES EQUINOVARUS(HP:0001762), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES(HP:0003705), PROMINENT EARS(HP:0000412), ACHILLES TENDON CONTRACTURES(HP:0001771), PROXIMAL MUSCLE WEAKNESS(HP:0003701), GENERALIZED AMYOTROPHY(HP:0003700), HIGH-ARCHED PALATE(HP:0000156), FEEDING DIFFICULTIES(HP:0002022), NOCTURNAL HYPOVENTILATION(HP:0002877), INCREASED LAXITY OF ANKLES(HP:0006460), FOLLICULAR HYPERKERATOSIS(HP:0007502), SLOW PROGRESSION(HP:0003677), PROGRESSIVE DISORDER(HP:0003676), ASTHENIC HABITUS(HP:0001533), DISLOCATED HIPS(HP:0002827), FAILURE TO THRIVE(HP:0001508), INCREASED LAXITY OF FINGERS(HP:0006149), RESPIRATORY INSUFFICIENCY(HP:0002093), DELAYED MOTOR MILESTONES(HP:0002130), HYPEREXTENSIBILITY AT WRISTS(HP:0005072), DECREASED BODY HEIGHT(HP:0004322), LUMBAR HYPERLORDOSIS(HP:0002938), CONTRACTURES OF THE ANKLES(HP:0006466), INTEROSSEUS MUSCLE ATROPHY(HP:0007181), HYPERHIDROSIS(HP:0000975), INCREASED SERUM CREATINE KINASE(HP:0002147)]
1293	COL6A3	[RECURRENT CHEST INFECTIONS(HP:0004884), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RESPIRATORY FAILURE DUE TO MUSCLE WEAKNESS MAY OCCUR IN LATE STAGES(HP:0004888), VARIABLE SEVERITY(HP:0003814), DISTAL MUSCLE WEAKNESS(HP:0002460), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), LONG, HYPEREXTENSIBLE FINGERS(HP:0006010), ROUND FACE(HP:0000311), DECREASED FETAL MOVEMENTS MAY OCCUR(HP:0007631), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), LIMB-GIRDLE MUSCLE WEAKNESS(HP:0003325), JOINT LAXITY(HP:0001388), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), ONSET IN EARLY CHILDHOOD(HP:0003580), ONSET IN INFANCY(HP:0003576), SPINAL RIGIDITY(HP:0003306), TORTICOLLIS, CONGENITAL(HP:0005988), KYPHOSIS(HP:0002808), MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211), LOW WEIGHT(HP:0001823), MUSCLE WEAKNESS, SEVERE(HP:0008979), MUSCLE FIBER NECROSIS(HP:0003713), FACIAL MUSCLE WEAKNESS, MILD(HP:0000353), NEONATAL HYPOTONIA(HP:0001319), TALIPES EQUINOVARUS(HP:0001762), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES(HP:0003705), PROMINENT EARS(HP:0000412), PROXIMAL MUSCLE WEAKNESS(HP:0003701), GENERALIZED AMYOTROPHY(HP:0003700), HIGH-ARCHED PALATE(HP:0000156), FEEDING DIFFICULTIES(HP:0002022), NOCTURNAL HYPOVENTILATION(HP:0002877), INCREASED LAXITY OF ANKLES(HP:0006460), FOLLICULAR HYPERKERATOSIS(HP:0007502), SLOW PROGRESSION(HP:0003677), PROGRESSIVE DISORDER(HP:0003676), ASTHENIC HABITUS(HP:0001533), DISLOCATED HIPS(HP:0002827), FAILURE TO THRIVE(HP:0001508), INCREASED LAXITY OF FINGERS(HP:0006149), RESPIRATORY INSUFFICIENCY(HP:0002093), DELAYED MOTOR MILESTONES(HP:0002130), HYPEREXTENSIBILITY AT WRISTS(HP:0005072), CONTRACTURES OF THE ANKLES(HP:0006466), SCOLIOSIS(HP:0002650), HYPERHIDROSIS(HP:0000975), INTEROSSEUS MUSCLE ATROPHY(HP:0007181), INCREASED SERUM CREATINE KINASE(HP:0002147)]
1294	COL7A1	[JOINT CONTRACTURES(HP:0001372), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SQUAMOUS CELL CARCINOMA(HP:0002860), CORNEAL SCARRING(HP:0000559), ESOPHAGEAL STRICTURE(HP:0002043), FRAGILE SKIN(HP:0001030), CONSTIPATION(HP:0002019), ALOPECIA(HP:0001596), ANEMIA(HP:0001903), MALNUTRITION(HP:0004395), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CONJUNCTIVITIS(HP:0000509), CATARACT(HP:0000518), CONGENITAL LOCALIZED ABSENCE OF SKIN(HP:0007383), NAIL DYSPLASIA(HP:0002164), METABOLISM ABNORMALITY(HP:0001939), MILIA(HP:0001056), MICROSTOMIA(HP:0000160), DYSPHAGIA(HP:0002015), GROWTH RETARDATION(HP:0001510), ATROPHIC SCARS(HP:0001075), MITTEN DEFORMITY(HP:0004057), ONSET AT BIRTH(HP:0003577), SPONTANEOUS ESOPHAGEAL PERFORATION(HP:0005203)]
1296	COL8A2	[CORNEAL DEGENERATION(HP:0007705), CORNEAL DYSTROPHY(HP:0001131), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EDEMA(HP:0000969), EARLY ONSET(HP:0003593), SPORADIC(HP:0003745)]
1297	COL9A1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DIABETES MELLITUS(HP:0000819), IRREGULAR EPIPHYSES(HP:0010582), ABNORMALITY OF THE PELVIS(HP:0002644), ARTHRALGIA(HP:0002829), MULTIPLE EPIPHYSEAL DYSPLASIA(HP:0002654), IRREGULAR VERTEBRAL ENDPLATES(HP:0003301), ONSET IN CHILDHOOD(HP:0003578), OSTEOARTHRITIS(HP:0002758)]
1298	COL9A2	[HETEROGENEOUS(HP:0001425), KNEE OSTEOARTHRITIS(HP:0005086), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SMALL HANDS(HP:0001165), EPIPHYSEAL DYSPLASIA(HP:0002656), WADDLING GAIT(HP:0002515), FLAT, IRREGULAR EPIPHYSES(HP:0004982), MILD SHORT STATURE(HP:0003502)]
1299	COL9A3	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROXIMAL MUSCLE WEAKNESS(HP:0003701), EPIPHYSEAL DYSPLASIA(HP:0002656), LATE OSSIFYING EPIPHYSES(HP:0002663), HIP OSTEOARTHRITIS(HP:0008843), ABNORMALITY OF THE PELVIS(HP:0002644), MUSCLE STIFFNESS(HP:0003552), MILD SHORT STATURE(HP:0003502), SMALL, IRREGULAR EPIPHYSES(HP:0003039), MILDLY ELEVATED CREATINE PHOSPHOKINASE(HP:0008180), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049)]
1301	COL11A1	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RADIAL BOWING(HP:0002986), EPICANTHUS(HP:0000286), ESOTROPIA(HP:0000565), SEVERE MYOPIA (> -6.00 DIOPTERS)(HP:0000569), CONGENITAL CATARACT(HP:0000519), HYPERTELORISM(HP:0000316), DETACHED RETINA(HP:0000541), JOINT HYPERMOBILITY(HP:0001382), ABSENT FRONTAL SINUSES(HP:0002688), LONG PHILTRUM(HP:0000343), ARTHROPATHY(HP:0003040), MILD SPONDYLOEPIPHYSEAL DYSPLASIA(HP:0002776), LOW-SET EARS(HP:0000369), IRREGULAR FEMORAL EPIPHYSES(HP:0006361), ULNAR BOWING(HP:0003031), PROMINENT UPPER CENTRAL INCISORS(HP:0000675), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPLASTIC ILIA(HP:0000946), SMALL, IRREGULAR PROXIMAL TIBIAL EPIPHYSES(HP:0006456), WIDE TUFTS OF DISTAL PHALANGES(HP:0006095), FULL LIPS(HP:0000170), VITREORETINAL DEGENERATION(HP:0000655), NASAL HYPOPLASIA(HP:0003196), SMALL, IRREGULAR DISTAL FEMORAL EPIPHYSES(HP:0006407), CLEFT PALATE(HP:0000175), FLATTENED NASAL BRIDGE(HP:0000425), LENS DISLOCATION(HP:0000665), COXA VALGA(HP:0002673), PIERRE-ROBIN SEQUENCE(HP:0000201), DECREASED BODY HEIGHT(HP:0004322), BIFID UVULA(HP:0000193), THICKENED CALVARIA(HP:0002684), ARACHNODACTYLY(HP:0001166), NARES, ANTEVERTED(HP:0000463), MILD PLATYSPONDYLY(HP:0002940), MICROGNATHIA(HP:0000210), GLAUCOMA(HP:0000501)]
1302	COL11A2	[MIXED HEARING LOSS(HP:0000410), JOINT CONTRACTURES(HP:0001372), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), ENLARGED EPIPHYSES(HP:0010580), PLATYSPONDYLY (CHILDHOOD)(HP:0003421), ABSENT-SMALL CAPITAL FEMORAL EPIPHYSES(HP:0005003), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), CORONAL CLEFT VERTEBRAE(HP:0003417), CONGENITAL SENSORINEURAL HEARING LOSS(HP:0008527), PSYCHOMOTOR RETARDATION(HP:0001255), BULBOUS NASAL TIP(HP:0000443), CLEFT PALATE(HP:0000175), ARTHRALGIA(HP:0002829), PROPTOSIS(HP:0000520), HYPERTELORISM(HP:0000316), FLATTENED NASAL BRIDGE(HP:0000425), RHIZOMELIC SHORTENING(HP:0002968), RECURRENT PNEUMONIA(HP:0002095), PIERRE-ROBIN SEQUENCE(HP:0000201), LARGE TARSAL BONES(HP:0004679), PREMATURE OSTEOARTHRITIS(HP:0003088), SMALL HANDS(HP:0001165), DECREASED BODY HEIGHT(HP:0004322), MANDIBULAR HYPOPLASIA(HP:0000347), NARES, ANTEVERTED(HP:0000463), EPIPHYSEAL DYSPLASIA(HP:0002656), DUMBBELL WIDENING OF LONG BONE METAPHYSES(HP:0005071), LUMBAR HYPERLORDOSIS(HP:0002938), CONGENITAL NON-PROGRESSIVE, NON-SYNDROMIC SENSORINEURAL HEARING LOSS(HP:0004457), MILD PLATYSPONDYLY(HP:0002940), MICROGNATHIA(HP:0000210), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), PROMINENT INTERPHALANGEAL JOINTS(HP:0006237), METAPHYSEAL FLARING(HP:0003015), ENLARGED JOINTS(HP:0003037), SHORT LONG BONES(HP:0003026), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049)]
1308	COL17A1	[HETEROGENEOUS(HP:0001425), ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), PALMAR HYPERHIDROSIS(HP:0006089), ATYPICAL SCARRING(HP:0000987), NAIL DYSPLASIA(HP:0002164), PLANTAR HYPERKERATOSIS(HP:0007556), FRAGILE NAILS(HP:0001808), HYPODONTIA(HP:0000668), CARIOUS TEETH(HP:0000670), ONSET IN CHILDHOOD(HP:0003578), MILD FINGER CONTRACTURES(HP:0006218)]
1311	COMP	[SHORT-LIMB DWARFISM IDENTIFIABLE DURING CHILDHOOD(HP:0003523), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE FACE(HP:0000271), SHORT, WIDE FEMORAL NECK(HP:0008781), JOINT LAXITY(HP:0001388), OVOID VERTEBRAL BODIES(HP:0003300), JOINT STIFFNESS(HP:0001387), LIGAMENTOUS LAXITY(HP:0001380), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), ULNAR DEVIATION OF THE WRIST(HP:0003049), KYPHOSIS(HP:0002808), WADDLING GAIT(HP:0002515), CERVICAL CORD COMPRESSION MYELOPATHY(HP:0007145), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), MILD TO MODERATE SHORT STATURE(HP:0003503), GENERALIZED JOINT LAXITY(HP:0002761), SMALL, IRREGULAR EPIPHYSES(HP:0003039), SHORT LONG BONES(HP:0003026), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), CARPAL BONE HYPOPLASIA(HP:0001498), GENU VALGUM(HP:0002857), ATLANTOAXIAL DISLOCATION(HP:0003414), PLATYSPONDYLY(HP:0000926), ONSET BEFORE AGE 2 YEARS(HP:0003667), IRREGULAR MUSHROOMED METAPHYSES(HP:0005032), HETEROGENEOUS(HP:0001425), LIMITED ELBOW AND HIP EXTENSION(HP:0003093), EPIPHYSEAL DYSPLASIA(HP:0002656), LATE OSSIFYING EPIPHYSES(HP:0002663), LUMBAR HYPERLORDOSIS(HP:0002938), MILD IRREGULARITY OF VERTEBRAL ENDPLATES(HP:0004583), MILD SHORT-LIMB DWARFISM(HP:0008880), ANTERIOR FLATTENING AND/OR BEAKING OF VERTEBRAE(HP:0004577), FRAGMENTED, IRREGULAR EPIPHYSES(HP:0005063), HIP OSTEOARTHRITIS(HP:0008843), SCOLIOSIS(HP:0002650), SMALL, IRREGULAR CARPALS(HP:0006072)]
1312	COMT	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
1316	KLF6	[CHRONIC ATROPHIC GASTRITIS(HP:0002582), EARLY ONSET(HP:0003593), NEOPLASIA(HP:0002664)]
1326	MAP3K8	[ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
1340	COX6B1	[RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIVER BIOPSY SHOWS INCREASED LIPID DROPLETS(HP:0006565), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), ANEMIA(HP:0001903), LIVER DYSFUNCTION(HP:0004393), EXERCISE INTOLERANCE(HP:0003546), EXERTIONAL DYSPNEA(HP:0002875), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RENAL FANCONI SYNDROME(HP:0001994), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HYPOKINESIA(HP:0002375), HETEROGENEOUS(HP:0001425), MUSCLE BIOPSY SHOWS DECREASE OR ABSENCE OF CYTOCHROME C OXIDASE(HP:0009006), PROTEINURIA(HP:0000093), GLYCOSURIA(HP:0003076), HEPATOMEGALY(HP:0002240), PTOSIS(HP:0000508), RESPIRATORY DIFFICULTIES(HP:0002880), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), INCREASED SERUM LACTATE(HP:0002151), AMINOACIDURIA(HP:0002903), RENAL TUBULAR DYSFUNCTION(HP:0000124), HYPERPHOSPHATURIA(HP:0003109)]
1355	COX15	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERREFLEXIA(HP:0001347), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), HYPERTRICHOSIS(HP:0000998), EMOTIONAL LABILITY(HP:0000712), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381)]
1356	CP	[RETINAL DEGENERATION(HP:0000546), INCREASED SERUM FERRITIN(HP:0003281), DIABETES MELLITUS(HP:0000819), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TORTICOLLIS(HP:0000473), CHOREA(HP:0002072), COGWHEEL RIGIDITY(HP:0002396), ATAXIA(HP:0001251), ONSET BEFORE AGE 2 YEARS(HP:0003667), DYSARTHRIA(HP:0001260), BLEPHAROSPASM(HP:0000643), SCANNING SPEECH(HP:0002168), MILD ANEMIA(HP:0001926), DEMENTIA, PROGRESSIVE(HP:0002274)]
1369	CPN1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951)]
1371	CPOX	[NEUROPATHY(HP:0003407), HYPERTENSION(HP:0000822), RESPIRATORY PARALYSIS(HP:0002203), JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TACHYCARDIA(HP:0001649), ABDOMINAL PAIN(HP:0002027), DIARRHEA(HP:0002014), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), SEVERE CONSTIPATION(HP:0003786), NEONATAL HEMOLYTIC ANEMIA(HP:0004811), ANXIETY(HP:0000739), HALLUCINATIONS(HP:0000738), CONFUSION(HP:0001289), PHOTOSENSITIVITY(HP:0000992), HEPATOMEGALY(HP:0002240), ACUTE EPISODES OF NEUROPATHIC SYMPTOMS(HP:0003489), METABOLISM ABNORMALITY(HP:0001939), DEPRESSION(HP:0000716)]
1373	CPS1	[PROTEIN AVOIDANCE(HP:0002038), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IRRITABILITY(HP:0000737), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), ATAXIA(HP:0001251), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), RESPIRATORY ALKALOSIS(HP:0001950), EPISODIC AMMONIA INTOXICATION(HP:0001951), COMA(HP:0001259), VOMITING(HP:0002013), LOW PLASMA CITRULLINE(HP:0003572), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508)]
1374	CPT1A	[CARDIOMEGALY(HP:0001640), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PRENATAL MATERNAL ABNORMALITY(HP:0002686), TRANSIENT HYPERLIPIDEMIA(HP:0008279), ENCEPHALOPATHY, RECURRENT(HP:0007335), FEEDING DIFFICULTIES(HP:0002022), HEPATOMEGALY(HP:0002240), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), SEIZURES(HP:0001250), HEPATIC STEATOSIS(HP:0001397), COMA(HP:0001259), DIARRHEA(HP:0002014), RENAL TUBULAR ACIDOSIS(HP:0001947), HYPERAMMONEMIA(HP:0001987), HYPOKETOTIC HYPOGLYCEMIA(HP:0001985), INCREASED SERUM CREATINE KINASE(HP:0002147), ELEVATED TRANSAMINASES(HP:0002910)]
1376	CPT2	[CARDIOMEGALY(HP:0001640), ABNORMALITY OF THE FEET(HP:0001760), BULBOUS NOSE(HP:0000414), DILATED CARDIOMYOPATHY(HP:0001644), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED LIVER FUNCTION TESTS(HP:0003156), LIPID ACCUMULATION IN HEPATOCYTES(HP:0006561), MUSCLE CRAMPS(HP:0003394), DYSPLASTIC OR ABSENT CORPUS CALLOSUM(HP:0006800), KNEE CONTRACTURES(HP:0002978), LIPID ACCUMULATION IN SKELETAL MUSCLE(HP:0009058), BASAL GANGLIA CYSTS(HP:0006799), HIGH-ARCHED PALATE(HP:0000156), FEEDING DIFFICULTIES(HP:0002022), OVERFOLDED HELICES(HP:0000396), LETHARGY(HP:0001254), RESPIRATORY DISTRESS(HP:0002098), LONG-CHAIN DICARBOXYLIC ACIDURIA(HP:0008293), MUSCLE STIFFNESS(HP:0003552), SEIZURES(HP:0001250), MACROVESICULAR STEATOSIS(HP:0001403), MYALGIA(HP:0003326), APNEA(HP:0002104), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), INCREASED TOTAL BILIRUBIN(HP:0003573), HYPOKETOTIC HYPOGLYCEMIA(HP:0001985), ELEVATED LONG CHAIN FATTY ACIDS(HP:0003455), LIVER CALCIFICATIONS(HP:0006559), ONSET IN INFANCY(HP:0003576), LONG TAPERED FINGERS(HP:0006125), DECREASED PLASMA TOTAL AND FREE CARNITINE(HP:0008315), ABNORMALITY OF THE EYES(HP:0000478), MYOGLOBINURIA(HP:0002913), NEURONAL MIGRATION DISORDER(HP:0002269), HIGH, SLOPING FOREHEAD(HP:0000342), INTRACEREBRAL PERIVENTRICULAR CALCIFICATIONS(HP:0007229), URETERAL DUPLICATION(HP:0000073), RHABDOMYOLYSIS(HP:0003201), VENTRICULOMEGALY(HP:0002119), NONKETOTIC HYPOGLYCEMIA(HP:0001958), RENAL FAILURE(HP:0000083), POLYMICROGYRIA(HP:0002126), HEPATOMEGALY(HP:0002240), INCREASED CREATINE KINASE(HP:0003078), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), LOW-SET EARS(HP:0000369), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), RESPIRATORY ARREST(HP:0005943), ANTENATAL INTRACEREBRAL HEMORRHAGE(HP:0007023), ENLARGED POLYCYSTIC KIDNEYS(HP:0004716), MICROCEPHALY(HP:0000252), POSTERIORLY ROTATED EARS(HP:0000358), MUSCLE WEAKNESS(HP:0001324), HYPOPLASTIC TOENAILS(HP:0001800), OLIGOHYDRAMNIOS(HP:0001562), HYDRONEPHROSIS(HP:0000126), WIDE INTERMAMILLARY DISTANCE(HP:0006610), NEONATAL HYPOTONIA(HP:0001319)]
1387	CREBBP	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DEVIATED NASAL SEPTUM(HP:0004411), THICK EYEBROWS(HP:0000574), CRYPTORCHIDISM(HP:0000028), CHORIORETINAL DYSTROPHY(HP:0001135), CATARACT(HP:0000518), RECURRENT INFECTIONS(HP:0002719), FRONTAL HAIR UPSWEEP(HP:0002236), LONG EYELASHES(HP:0000527), HYPOSPADIAS(HP:0000047), LARGE FORAMEN MAGNUM(HP:0002700), SHAWL SCROTUM(HP:0000049), VENTRICULAR SEPTAL DEFECT(HP:0001629), PARIETAL FORAMINA(HP:0002697), SPINA BIFIDA OCCULTA(HP:0003298), ATRIAL SEPTAL DEFECT(HP:0001631), HIGHLY ARCHED EYEBROWS(HP:0001584), NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579), COLOBOMA(HP:0000589), PLANTAR CREASE BETWEEN FIRST AND SECOND TOES(HP:0008107), PES PLANUS(HP:0001763), DENTAL OVERCROWDING(HP:0000678), HIGH-ARCHED PALATE(HP:0000156), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), SMALL, FLARED ILIAC WINGS(HP:0003181), ENOPHTHALMOS(HP:0000663), AGENESIS OF CORPUS CALLOSUM(HP:0001274), SYNDACTYLY(HP:0001159), POLYDACTYLY (HANDS)(HP:0001161), SHORT ATTENTION SPAN(HP:0000736), SPEECH DELAY(HP:0002117), ABNORMALITY OF THE STERNUM(HP:0000766), MICROGNATHIA(HP:0000210), LOW POSTERIOR HAIRLINE(HP:0002162), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), PROMINENT FINGERTIP PADS(HP:0001212), RETROGNATHIA(HP:0000278), EPICANTHUS(HP:0000286), WIDE ANTERIOR FONTANEL(HP:0000260), DISLOCATION OF PATELLA(HP:0002999), DELAYED CLOSURE OF FONTANELLES(HP:0000270), HYPERREFLEXIA(HP:0001347), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), POOR SPEECH(HP:0002465), LOW FRONTAL HAIRLINE(HP:0000294), JOINT HYPERMOBILITY(HP:0001382), HYPOPLASIA OF THE MAXILLA(HP:0000327), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), LOW-SET EARS(HP:0000369), ABNORMAL FORM OF EARS(HP:0000377), HEARING LOSS(HP:0000365), BROAD HALLUX(HP:0010055), CAFE-AU-LAIT SPOTS(HP:0000957), TRANSVERSE PALMAR CREASES(HP:0000954), UNSTEADY GAIT(HP:0002317), CONSTIPATION(HP:0002019), BROAD PHALANGES OF THE THUMB(HP:0009651), COLUMELLA, SHORT(HP:0002000), BEAKED NOSE(HP:0000444), FRONTAL BOSSING(HP:0002007), EEG ABNORMALITIES(HP:0002353), BROAD NASAL BRIDGE(HP:0000431), POOR COORDINATION(HP:0002370), DECREASED BODY HEIGHT(HP:0004322), HIRSUTISM(HP:0001007), INCREASED RISK OF LEUKEMIA(HP:0006726), CAPILLARY HEMANGIOMAS(HP:0005306), PTOSIS(HP:0000508), GLAUCOMA(HP:0000501), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
1392	CRH	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438), HYPOGLYCEMIA(HP:0001943), SEIZURES(HP:0001250), SECONDARY GROWTH HORMONE DEFICIENCY(HP:0008240), ADRENAL INSUFFICIENCY(HP:0000846), AGENESIS OF CORPUS CALLOSUM(HP:0001274), FACIAL DYSMORPHISM(HP:0001999)]
1406	CRX	[RETINITIS PIGMENTOSA(HP:0000510), CONE-ROD DYSTROPHY(HP:0000548), CONSTRICTED VISUAL FIELDS(HP:0001133), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BLINDNESS(HP:0000618), CHORIORETINAL ATROPHY(HP:0000533), ABNORMALITY OF SKIN PIGMENTATION(HP:0001000), PERIPHERAL VISUAL FIELD LOSS(HP:0007994), NIGHT BLINDNESS(HP:0000662)]
1410	CRYAB	[HYPOREFLEXIA AT ANKLE JOINTS(HP:0009072), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), PROXIMAL MUSCLE WEAKNESS OCCURS LATER(HP:0003694), DISTAL MUSCLE WEAKNESS(HP:0002460), MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES(HP:0003544), CATARACT(HP:0000518), SLOW PROGRESSION(HP:0003677), MUSCLE FIBER SPLITTING(HP:0003555), LIMB-GIRDLE MUSCLE WEAKNESS(HP:0003325), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), ONSET IN ADULTHOOD(HP:0003581), RESPIRATORY INSUFFICIENCY(HP:0002093), NECK MUSCLE WEAKNESS(HP:0000467), AUTOPHAGIC VACUOLES(HP:0003736), INCREASED SERUM CREATINE KINASE(HP:0002147), FOOT DROP(HP:0003377)]
1411	CRYBA1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUTURAL CATARACT(HP:0010695), LAMELLAR CATARACT(HP:0007971)]
1421	CRYGD	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NONNUCLEAR POLYMORPHIC CONGENITAL CATARACT(HP:0007692)]
1438	CSF2RA	[HEMATOLOGICAL ABNORMALITY(HP:0001871)]
1441	CSF3R	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEPATOSPLENOMEGALY(HP:0001433), THICKENED CALVARIA(HP:0002684), MYELODYSPLASTIC SYNDROME(HP:0006730), HEMATOLOGICAL ABNORMALITY(HP:0001871), ELEVATED LEUKOCYTE ALKALINE PHOSPHATASE(HP:0008318)]
1462	VCAN	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), VISUAL LOSS(HP:0000572), CATARACT(HP:0000518), VITREORETINAL DEGENERATION(HP:0000655), OPTIC ATROPHY(HP:0000648), GLAUCOMA(HP:0000501), VISUAL FIELD DEFECTS(HP:0001123), CHORIORETINAL ATROPHY(HP:0000533), LOSS OF RETINAL PIGMENT EPITHELIUM(HP:0007722), PERIPHERAL TRACTION RETINAL DETACHMENT(HP:0007643)]
1471	CST3	[GENERALIZED AMYLOID DEPOSITION(HP:0003216), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), STROKE(HP:0001297), INTRACRANIAL HEMORRHAGE(HP:0002170), DEMENTIA(HP:0000726)]
1476	CSTB	[MYOCLONUS(HP:0001336), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), ATAXIA(HP:0001251), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DYSARTHRIA(HP:0001260), ABSENCE SEIZURES(HP:0002121), MILD MENTAL DETERIORATION(HP:0007264)]
1482	NKX2-5	[HYPOTHYROIDISM(HP:0000821), ECTOPIC THYROID(HP:0100028), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BROAD FOREHEAD(HP:0000337), PREAURICULAR SINUS(HP:0004467), TETRALOGY OF FALLOT(HP:0001636), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), METABOLISM ABNORMALITY(HP:0001939), GROWTH RETARDATION(HP:0001510), ATRIAL SEPTAL DEFECT(HP:0001631), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), PROMINENT EYES(HP:0000536), HYPOPLASTIC THYROID(HP:0005990)]
1491	CTH	[MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CYSTATHIONINURIA(HP:0003153)]
1497	CTNS	[DELAYED SKELETAL MATURATION(HP:0002750), RICKETS(HP:0002748), DELAYED PUBERTY(HP:0000823), DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GENU VALGUM(HP:0002857), RECURRENT EPISODES OF ACIDOSIS(HP:0005963), CEREBRAL ATROPHY(HP:0002059), PANCREATIC INSUFFICIENCY(HP:0002581), ABNORMALITY OF THE VOICE(HP:0001608), MYOPATHY(HP:0003198), HYPOPHOSPHATEMIC RICKETS(HP:0004912), KIDNEY STONES(HP:0000787), FRONTAL BOSSING(HP:0002007), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), DYSPHAGIA(HP:0002015), SPLENOMEGALY(HP:0001744), CORNEAL CRYSTALS(HP:0000531), ABNORMALITY OF HAIR PIGMENTATION(HP:0009887), RENAL FANCONI SYNDROME(HP:0001994), RACHITIC ROSARY(HP:0000897), PHOTOPHOBIA(HP:0000613), END STAGE RENAL DISEASE(HP:0003774), DECREASED BODY HEIGHT(HP:0004322), ABNORMALITY OF SKIN PIGMENTATION(HP:0001000), POLYDIPSIA(HP:0001959), AMYOTROPHY(HP:0003202), ELEVATED WHITE BLOOD CELL CYSTINE(HP:0003358), PROTEINURIA(HP:0000093), JUVENILE ONSET(HP:0003621), GLYCOSURIA(HP:0003076), HEPATOMEGALY(HP:0002240), MALE INFERTILITY(HP:0003251), POLYURIA(HP:0000103), METAPHYSEAL WIDENING(HP:0003016), IMPAIRED VISION(HP:0000505), PERIPHERAL RETINOPATHY(HP:0007869), DEHYDRATION(HP:0001944), FAILURE TO THRIVE IN FIRST YEAR OF LIFE(HP:0008863), RECURRENT CORNEAL EROSIONS(HP:0000495), PRIMARY HYPOTHYROIDISM(HP:0000832), RETINOPATHY(HP:0000488), HYPONATREMIA(HP:0002902), NEPHROPATHY(HP:0000112), MICROSCOPIC HEMATURIA(HP:0002907), ONSET IN ADOLESCENCE(HP:0003590), LATE ONSET(HP:0003584), HYPOHIDROSIS(HP:0000966), GENERALIZED AMINOACIDURIA(HP:0002909)]
1499	CTNNB1	[HETEROGENEOUS(HP:0001425), NEOPLASIA OF THE SKIN(HP:0008069), SUBACUTE PROGRESSIVE VIRAL HEPATITIS(HP:0006572), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SOMATIC MUTATION(HP:0001428), MICRONODULAR CIRRHOSIS(HP:0001413), BREAST CANCER(HP:0003002), OVARIAN PAPILLARY ADENOCARCINOMA(HP:0006774), METABOLISM ABNORMALITY(HP:0001939), HEPATOCELLULAR CARCINOMA(HP:0001402)]
1509	CTSD	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074), VISUAL LOSS(HP:0000572), CEREBRAL ATROPHY(HP:0002059), RETINAL ATROPHY(HP:0001105), RIGIDITY(HP:0002063), ATAXIA(HP:0001251), APNEA(HP:0002104), OBLITERATED FONTANELLES(HP:0005458), SPASTICITY(HP:0001257), BROAD NASAL BRIDGE(HP:0000431), CEREBELLAR ATROPHY(HP:0001272), RESPIRATORY INSUFFICIENCY(HP:0002093), STATUS EPILEPTICUS(HP:0002133), SLOPING FOREHEAD(HP:0000340), EARLY DEATH(HP:0001432), RETINITIS PIGMENTOSA(HP:0000510), LOW-SET EARS(HP:0000369), NEURONAL LOSS(HP:0002400), METABOLISM ABNORMALITY(HP:0001939), MICROCEPHALY(HP:0000252), ONSET AT BIRTH OR EARLY CHILDHOOD(HP:0003595), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
1513	CTSK	[DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951), DELAYED ERUPTION OF SECONDARY TEETH(HP:0000696), HYPODONTIA(HP:0000668), SPONDYLOLISTHESIS(HP:0003302), CARIOUS TEETH(HP:0000670), FRONTAL AND OCCIPITAL PROMINENCE(HP:0004489), NARROW PALATE(HP:0000189), OSTEOSCLEROSIS(HP:0010738), ABSENT FRONTAL SINUSES(HP:0002688), SPONDYLOLYSIS(HP:0003304), BRACHYDACTYLY(HP:0001156), OSTEOLYTIC DEFECTS OF THE DISTAL PHALANGES OF THE HAND(HP:0009839), DECREASED BODY HEIGHT(HP:0004322), PERSISTENT OPEN ANTERIOR FONTANELLE(HP:0004474), ABNORMALITY OF THE THORAX(HP:0000765), MICROGNATHIA(HP:0000210), PROMINENT NOSE(HP:0000448), WORMIAN BONES(HP:0002645), ABNORMALITY OF THE PELVIS(HP:0002644), SCOLIOSIS(HP:0002650), GROOVED NAILS(HP:0001811), PERSISTENCE OF DECIDUOUS TEETH(HP:0006341)]
1528	CYB5A	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CYANOSIS(HP:0000961)]
1535	CYBA	[RECTAL ABSCESS(HP:0005224), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KLEBSIELLA INFECTIONS(HP:0002742), E. COLI INFECTIONS(HP:0002740), SERRATIA MARCESCENS INFECTIONS(HP:0002741), STAPHYLOCOCCUS AUREUS INFECTIONS(HP:0002726), ASPERGILLUS INFECTIONS(HP:0002724), ABSENCE OF BACTERICIDAL OXIDATIVE 'RESPIRATORY BURST' IN PHAGOCYTES(HP:0002723), ABSCESS FORMATION IN ANY ORGAN(HP:0002722), IMMUNODEFICIENCY(HP:0002721), LYMPHADENOPATHY(HP:0002716), PNEUMONIA DUE TO IMMUNODEFICIENCY(HP:0002096), CELLULITIS DUE TO IMMUNODEFICIENCY(HP:0003553), TISSUE BIOPSY SHOWS GRANULOMAS(HP:0002955), HEPATIC ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0001400), SPLENOMEGALY(HP:0001744), PERIRECTAL ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0002567), BURKHOLDERIA CEPACIA INFECTIONS(HP:0002842), LYMPHADENITIS(HP:0002840), HYPOKINESIA(HP:0002375), NEGATIVE NITROBLUE TETRAZOLIUM (NBT) REDUCTION TEST(HP:0003203), DECREASED ACTIVITY OF NADPH OXIDASE(HP:0003206), ONSET USUALLY IN FIRST DECADE(HP:0003619), HEPATOMEGALY(HP:0002240), ECZEMATOID DERMATITIS(HP:0000976), DERMATITIS, INFECTIOUS, DUE TO IMMUNODEFICIENCY IMPETIGO(HP:0000983), DISCOID LUPUS IN CARRIERS OR ADULTS WITH MILD DISEASE(HP:0000981), DEFICIENCY OR ABSENCE OF CYTOCHROME B(-245)(HP:0003514), OSTEOMYELITIS DUE TO IMMUNODEFICIENCY(HP:0002755)]
1536	CYBB	[RECTAL ABSCESS(HP:0005224), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KLEBSIELLA INFECTIONS(HP:0002742), E. COLI INFECTIONS(HP:0002740), SERRATIA MARCESCENS INFECTIONS(HP:0002741), STAPHYLOCOCCUS AUREUS INFECTIONS(HP:0002726), ASPERGILLUS INFECTIONS(HP:0002724), ABSENCE OF BACTERICIDAL OXIDATIVE 'RESPIRATORY BURST' IN PHAGOCYTES(HP:0002723), ABSCESS FORMATION IN ANY ORGAN(HP:0002722), IMMUNODEFICIENCY(HP:0002721), LYMPHADENOPATHY(HP:0002716), PNEUMONIA DUE TO IMMUNODEFICIENCY(HP:0002096), CELLULITIS DUE TO IMMUNODEFICIENCY(HP:0003553), TISSUE BIOPSY SHOWS GRANULOMAS(HP:0002955), HEPATIC ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0001400), SPLENOMEGALY(HP:0001744), PERIRECTAL ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0002567), BURKHOLDERIA CEPACIA INFECTIONS(HP:0002842), LYMPHADENITIS(HP:0002840), HYPOKINESIA(HP:0002375), NEGATIVE NITROBLUE TETRAZOLIUM (NBT) REDUCTION TEST(HP:0003203), DECREASED ACTIVITY OF NADPH OXIDASE(HP:0003206), X-LINKED RECESSIVE INHERITANCE(HP:0001419), ONSET USUALLY IN FIRST DECADE(HP:0003619), HEPATOMEGALY(HP:0002240), ECZEMATOID DERMATITIS(HP:0000976), DERMATITIS, INFECTIOUS, DUE TO IMMUNODEFICIENCY IMPETIGO(HP:0000983), DISCOID LUPUS IN CARRIERS OR ADULTS WITH MILD DISEASE(HP:0000981), DEFICIENCY OR ABSENCE OF CYTOCHROME B(-245)(HP:0003514), OSTEOMYELITIS DUE TO IMMUNODEFICIENCY(HP:0002755)]
1540	CYLD	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MILIA(HP:0001056), ONSET IN EARLY ADULTHOOD(HP:0003627), BASAL CELL CARCINOMA(HP:0002671)]
1543	CYP1A1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
1544	CYP1A2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1545	CYP1B1	[LATE ONSET CONGENITAL GLAUCOMA(HP:0008041), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), BUPHTHALMOS(HP:0000557), INCREASED INTRAOCULAR PRESSURE(HP:0007906), ABNORMAL IRIS VASCULATURE(HP:0007905)]
1548	CYP2A6	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1557	CYP2C19	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
1559	CYP2C9	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1565	CYP2D6	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEUROLOGICAL ABNORMALITY(HP:0000707), BLADDER CARCINOMA(HP:0002862)]
1583	CYP11A1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOSPADIAS(HP:0000047), RENAL SALT WASTING(HP:0000127), ADRENOGENITAL SYNDROME(HP:0000840)]
1584	CYP11B1	[HYPERTENSION(HP:0000822), CONGENITAL ADRENAL HYPERPLASIA(HP:0008258), ACCELERATED SKELETAL MATURATION(HP:0005616), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED SKIN PIGMENTATION(HP:0007527), ABNORMALITY OF THE URINARY TRACT(HP:0000079), DECREASED SERUM ALDOSTERONE(HP:0002924), DECREASED BODY HEIGHT(HP:0004322), VARIABLE AGE AT ONSET (CHILDHOOD TO ADULT)(HP:0003630), ONSET IN NEONATAL PERIOD(HP:0003623), DECREASED RENIN(HP:0003351), RUDIMENTARY UTERUS AND VAGINA(HP:0008637), INCREASED PLASMA ALDOSTERONE(HP:0000859), ENLARGED PENIS(HP:0000040), AMBIGUOUS GENITALIA DUE TO VIRILIZATION(HP:0008690), LOW PLASMA RENIN ACTIVITY(HP:0003263), HYPOKALEMIA(HP:0002900), PRECOCIOUS PUBERTY IN MALES(HP:0008185), DECREASED TESTICULAR SIZE(HP:0008734), ADRENOGENITAL SYNDROME(HP:0000840), CLITOROMEGALY(HP:0000057)]
1585	CYP11B2	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED SERUM ALDOSTERONE(HP:0002924), FEVER, EPISODIC(HP:0001954), FEEDING DIFFICULTIES(HP:0002022), ONSET IN NEONATAL PERIOD(HP:0003623), INCREASED SERUM RENIN(HP:0003615), DEHYDRATION(HP:0001944), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), HYPONATREMIA(HP:0002902), HYPOALDOSTERONISM(HP:0000355), RENAL SALT WASTING(HP:0000127), ORTHOSTATIC HYPOTENSION(HP:0001278), HYPERKALEMIA(HP:0002153)]
1586	CYP17A1	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PRIMARY AMENORRHEA(HP:0000786), MALE PSEUDOHERMAPHRODITISM(HP:0000037), HYPOKALEMIC ALKALOSIS(HP:0001949), GYNECOMASTIA(HP:0000771), ADRENOGENITAL SYNDROME(HP:0000840), AMBIGUOUS GENITALIA(HP:0000062)]
1588	CYP19A1	[ACCELERATED SKELETAL MATURATION(HP:0005616), DECREASED BODY HEIGHT(HP:0004322), MALE-LIMITED AUTOSOMAL DOMINANT(HP:0001475), POLYCYSTIC OVARIES(HP:0000147), PRIMARY AMENORRHEA(HP:0000786), METABOLISM ABNORMALITY(HP:0001939), AMBIGUOUS EXTERNAL GENITALIA(HP:0008693), GYNECOMASTIA(HP:0000771), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
1589	CYP21A2	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE THORAX(HP:0000765), HYPOGLYCEMIA(HP:0001943), HYPOSPADIAS(HP:0000047), FEVER(HP:0001945), GYNECOMASTIA(HP:0000771), GROWTH ABNORMALITY(HP:0001507), RENAL SALT WASTING(HP:0000127), ADRENOGENITAL SYNDROME(HP:0000840)]
1593	CYP27A1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOCARDIAL INFARCTION(HP:0001658), JUVENILE CATARACTS(HP:0001118), OSTEOPOROSIS(HP:0000939), XANTHELASMA(HP:0001114), CEREBELLAR ATAXIA(HP:0001253), MENTAL RETARDATION(HP:0001249), SPASTICITY(HP:0001257), POLYNEUROPATHY(HP:0001271), RESPIRATORY INSUFFICIENCY(HP:0002093), DELUSIONS(HP:0000746), HALLUCINATIONS(HP:0000738), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), METABOLISM ABNORMALITY(HP:0001939), PSEUDOBULBAR PARALYSIS(HP:0007024), ANGINA PECTORIS(HP:0001681), DEMENTIA(HP:0000726)]
1594	CYP27B1	[RICKETS(HP:0002748), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CURVATURES OF THE FEMUR, TIBIA, FIBULA(HP:0002976), BOWING OF THE LEGS(HP:0002979), SEIZURES DUE TO HYPOCALCEMIA(HP:0002199), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), DEFORMED RIB CAGE(HP:0000886), 'BULGING' OF THE COSTOCHONDRAL JUNCTION(HP:0000893), SECONDARY HYPERPARATHYROIDISM(HP:0000867), FRAYED, IRREGULAR METAPHYSES(HP:0003017), PROTUBERANT ABDOMEN DUE TO MUSCLE WEAKNESS(HP:0001546), ENLARGEMENT OF THE WRISTS(HP:0003020), PROTUBERANT ABDOMEN(HP:0001538), 'BULGING' EPIPHYSES(HP:0003013), THIN BONY CORTEX(HP:0002753), SPARSE BONE TRABECULAE(HP:0002752), RECURRENT FRACTURES(HP:0002757), ENLARGEMENT OF THE ANKLES(HP:0003029), ELEVATED SERUM PARATHYROID HORMONE (PTH) LEVEL(HP:0003165), DELAYED DENTITION(HP:0000684), DIFFICULTY STANDING(HP:0003698), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), ENLARGED EPIPHYSES(HP:0010580), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), ENLARGEMENT OF THE COSTOCHONDRAL JUNCTION(HP:0000920), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), DIFFICULTY WALKING(HP:0002355), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), IRRITABILITY(HP:0000737), LATE OSSIFYING EPIPHYSES(HP:0002663), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), BONE PAIN(HP:0002653), HYPOPHOSPHATEMIA(HP:0002148), HYPOCALCEMIA(HP:0002901), SUBPERIOSTEAL EROSIONS DUE TO SECONDARY HYPERPARATHYROIDISM(HP:0003106), POSTERIOR FLATTENING OF THE SKULL(HP:0000247), GENERALIZED AMINOACIDURIA(HP:0002909)]
1617	DAZ1	[METABOLISM ABNORMALITY(HP:0001939), AZOOSPERMIA(HP:0000027), Y-LINKED INHERITANCE(HP:0001450)]
1621	DBH	[BRADYKINESIA(HP:0002067), HETEROGENEOUS(HP:0001425), PERSONALITY CHANGES(HP:0000751), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOTHERMIA, EPISODIC, IN INFANTS(HP:0005970), HYPOSMIA(HP:0004409), PARKINSONISM(HP:0001300), NOCTURIA(HP:0000017), HIGH-ARCHED PALATE(HP:0000156), ORTHOSTATIC HYPOTENSION, SEVERE, RECURRENT(HP:0004932), RIGIDITY(HP:0002063), TREMOR(HP:0001337), PTOSIS(HP:0000508), HYPOGLYCEMIA, EPISODIC, IN INFANTS(HP:0004917), DEPRESSION(HP:0000716), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), MASK-LIKE FACIES(HP:0000298), SOFT VOICE(HP:0001621), DEMENTIA(HP:0000726), SHORT STEPPED SHUFFLING GAIT(HP:0007311)]
1622	DBI	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEUROLOGICAL ABNORMALITY(HP:0000707)]
1629	DBT	[MENTAL RETARDATION IF UNTREATED(HP:0003767), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HALLUCINATIONS(HP:0000738), ELEVATED PLASMA BRANCHED CHAIN AMINO ACIDS(HP:0008344), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PANCREATITIS(HP:0001733), SEIZURES(HP:0001250), COMA(HP:0001259), KETOSIS(HP:0001946), VOMITING(HP:0002013), GROWTH ABNORMALITY(HP:0001507), HYPERTONIA(HP:0001276)]
1630	DCC	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MIRROR HAND MOVEMENTS (BIMANUAL SYNKINESIA)(HP:0001335)]
1633	DCK	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1636	ACE	[HYPOTENSION(HP:0002615), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE URINARY TRACT(HP:0000079), POTTER FACIES(HP:0002009), MICROCEPHALY(HP:0000252), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), OLIGOHYDRAMNIOS(HP:0001562), PULMONARY HYPOPLASIA(HP:0002089), RESPIRATORY INSUFFICIENCY(HP:0002093)]
1637	DCR	[HYPOTHYROIDISM(HP:0000821), MALAR HYPOPLASIA(HP:0000272), BRUSHFIELD SPOTS(HP:0001088), EPICANTHUS(HP:0000286), JOINT LAXITY(HP:0001388), DUODENAL STENOSIS/ATRESIA(HP:0005205), ALZHEIMER DISEASE(HP:0002511), ATLANTOAXIAL INSTABILITY(HP:0003467), CONGENITAL MEGACOLON(HP:0002251), HYPOPLASTIC/SMALL MIDDLE PHALANX OF THE 5TH FINGER(HP:0004220), UPSLANTING PALPEBRAL FISSURES(HP:0000582), SMALL EARS(HP:0000409), TRANSVERSE PALMAR CREASES(HP:0000954), HEARING LOSS, CONDUCTIVE(HP:0000405), ANAL ATRESIA(HP:0002023), MACROGLOSSIA(HP:0000158), HYPOPLASTIC ILIAC WINGS(HP:0002866), MUSCULAR HYPOTONIA(HP:0001252), MENTAL RETARDATION(HP:0001249), SHALLOW ACETABULAR FOSSAE(HP:0003182), EXCESS NUCHAL SKIN(HP:0000474), DECREASED BODY HEIGHT(HP:0004322), SHORT BROAD HANDS(HP:0001174), ACUTE MEGAKARYOCYTIC LEUKEMIA(HP:0006733), ISOLATED CASES(HP:0001420), COMPLETE ATRIOVENTRICULAR CANAL(HP:0001674), BRACHYCEPHALY(HP:0000248)]
1639	DCTN1	[BRADYKINESIA(HP:0002067), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ALVEOLAR HYPOVENTILATION(HP:0004892), LIMB MUSCLE WEAKNESS(HP:0003690), LOWER MOTOR NEURON DISEASE(HP:0007276), RIGIDITY(HP:0002063), BREATHING DIFFICULTY DUE TO VOCAL CORD PARALYSIS(HP:0006847), SLOW PROGRESSION(HP:0003677), RAPIDLY PROGRESSIVE(HP:0003678), DYSARTHRIA(HP:0001260), SLEEP DISTURBANCES(HP:0002360), MASK-LIKE FACIES(HP:0000298), SOFT VOICE(HP:0001621), DYSPNEA(HP:0002094), RESPIRATORY INSUFFICIENCY(HP:0002093), CENTRAL HYPOVENTILATION(HP:0007110), FACIAL MUSCLE WEAKNESS(HP:0010628), APATHY(HP:0000741), PARKINSONISM(HP:0001300), ONSET IN EARLY ADULTHOOD(HP:0003627), AMYOTROPHY INVOLVING THE LOWER LIMBS(HP:0003746), AMYOTROPHY INVOLVING THE MUSCULATURE OF THE HAND(HP:0009130), WEIGHT LOSS(HP:0001824), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), TREMOR(HP:0001337), RESPIRATORY DIFFICULTIES(HP:0002880), NEURONAL LOSS(HP:0002400), METABOLISM ABNORMALITY(HP:0001939), DEPRESSION(HP:0000716), GLIOSIS(HP:0002171), SHORT STEPPED SHUFFLING GAIT(HP:0007311)]
1641	DCX	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), INCOMPLETE PENETRANCE(HP:0003829), HIGHLY VARIABLE PHENOTYPE(HP:0003815), ATAXIA(HP:0001251), DEATH IN INFANCY(HP:0001522), DYSARTHRIA(HP:0001260), SPASTICITY(HP:0001257), MOTOR RETARDATION(HP:0001270), MICROPENIS(HP:0000054), GROWTH FAILURE(HP:0001517), AGENESIS OF CORPUS CALLOSUM(HP:0001274), INTRACTABLE SEIZURES(HP:0001303), PACHYGYRIA(HP:0001302), X-LINKED INHERITANCE(HP:0001417), NYSTAGMUS(HP:0000639), LISSENCEPHALY(HP:0001339), HETEROTOPIA(HP:0002282), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
1642	DDB1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP E, SUBTYPE 2(HP:0007580)]
1643	DDB2	[XERODERMA PIGMENTOSUM(HP:0007415), DERMAL ATROPHY(HP:0004334), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PHOTOPHOBIA(HP:0000613), TELANGIECTASIA(HP:0001009), MALIGNANT MELANOMA(HP:0002861), POIKILODERMA(HP:0001029), ENTROPION(HP:0000621), PHOTOSENSITIVITY(HP:0000992), FRECKLING(HP:0001480), DEFECTIVE DNA REPAIR AFTER ULTRAVIOLET RADIATION DAMAGE(HP:0003079), CONJUNCTIVITIS(HP:0000509), EARLY ONSET(HP:0003593), KERATITIS(HP:0000491), ECTROPION(HP:0000656)]
1644	DDC	[HYPOTENSION(HP:0002615), MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TEMPERATURE INSTABILITY(HP:0005968), CONSTIPATION(HP:0002019), GASTROESOPHAGEAL REFLUX(HP:0002020), FEEDING DIFFICULTIES(HP:0002022), INTERMITTENT HYPOTHERMIA(HP:0005964), LIMB DYSTONIA(HP:0002451), HYPERREFLEXIA(HP:0001347), ABNORMALITY OF THE FACE(HP:0000271), PSYCHOMOTOR RETARDATION(HP:0001255), DEVELOPMENTAL RETARDATION(HP:0001263), DIARRHEA(HP:0002014), CHOREOATHETOSIS(HP:0001266), DECREASED CSF HOMOVANILLIC ACID (HVA)(HP:0003785), SLEEP DISTURBANCES(HP:0002360), HYPOKINESIA(HP:0002375), LIMB HYPERTONIA(HP:0002509), IRRITABILITY(HP:0000737), MIOSIS(HP:0000616), BABINSKI SIGN(HP:0003487), PTOSIS(HP:0000508), MYOCLONUS(HP:0001336), EMOTIONAL LABILITY(HP:0000712), HYPERHIDROSIS(HP:0000975), ONSET IN EARLY INFANCY(HP:0003591)]
1666	DECR1	[HYPERLYSINEMIA(HP:0002161), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RESPIRATORY ACIDOSIS(HP:0005972), NEONATAL HYPOTONIA(HP:0001319)]
1674	DES	[TALIPES EQUINOVARUS(HP:0001762), SCAPULOPERONEAL WEAKNESS(HP:0003704), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), NECK MUSCLE WEAKNESS(HP:0000467), FACIAL MUSCLE WEAKNESS(HP:0010628), CONSTIPATION(HP:0002019), PROXIMAL MUSCLE WEAKNESS OCCURS LATER(HP:0003694), VARIABLE PHENOTYPE(HP:0003813), DISTAL MUSCLE WEAKNESS(HP:0002460), BULBAR PALSY(HP:0001283), HYPOREFLEXIA OF LOWER LIMBS(HP:0002600), RESTRICTIVE HEART FAILURE(HP:0005130), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), PERONEAL MUSCLE ATROPHY(HP:0009049), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), DIARRHEA(HP:0002014), FOOT DROP(HP:0003377), SHOULDER GIRDLE MUSCLE ATROPHY(HP:0003724)]
1675	CFD	[PARTIAL FUNCTIONAL COMPLEMENT FACTOR D DEFICIENCY(HP:0008338), RECURRENT NEISSERIAL INFECTIONS(HP:0005430)]
1678	TIMM8A	[DIFFUSE MUSCLE ATROPHY(HP:0009074), MYOPIA(HP:0000545), DEAFNESS(HP:0000404), HYPERREFLEXIA(HP:0001347), CONSTRICTED VISUAL FIELDS(HP:0001133), ABNORMAL ELECTRORETINOGRAM(HP:0000512), OPTIC ATROPHY(HP:0000648), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), SPASTICITY(HP:0001257), MENTAL DETERIORATION(HP:0001268), ONSET IN CHILDHOOD(HP:0003578), PHOTOPHOBIA(HP:0000613), BLINDNESS(HP:0000618), SENSORINEURAL DEAFNESS, POSTLINGUAL, PROGRESSIVE(HP:0008596), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), X-LINKED RECESSIVE INHERITANCE(HP:0001419), TREMOR(HP:0001337), MODERATE DIFFUSE SKELETAL MUSCLE WASTING(HP:0008977), METABOLISM ABNORMALITY(HP:0001939), ABNORMAL POSTURING(HP:0002533), DYSTONIA(HP:0001332), CORTICAL BLINDNESS(HP:0000595), INFANTILE SENSORINEURAL HEARING LOSS(HP:0008610), DEMENTIA(HP:0000726)]
1687	DFNA5	[HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), AGE OF ONSET(HP:0003674), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
1714	DGCR	[HYPOTHYROIDISM(HP:0000821), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TETRALOGY OF FALLOT(HP:0001636), ESOTROPIA(HP:0000565), INGUINAL HERNIA(HP:0000023), PERSISTANT TRUNCUS ARTERIOSUS(HP:0001660), HYPERNASAL SPEECH(HP:0001614), HYPERTELORISM(HP:0000316), VENTRICULAR SEPTAL DEFECT(HP:0001629), SUSCEPTIBILITY TO INFECTION(HP:0002964), ABNORMALITY OF THE THYMUS(HP:0000777), POSTERIOR EMBRYOTOXON(HP:0000627), PARATHYROID ABSENCE(HP:0008211), SEBORRHEIC DERMATITIS(HP:0001051), SHORT PHILTRUM(HP:0000322), TETANY(HP:0001281), EXOTROPIA(HP:0000577), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), ABNORMALITY OF THE MIDDLE EAR(HP:0000370), RENAL DYSPLASIA(HP:0000110), UMBILICAL HERNIA(HP:0001537), ACNE(HP:0001061), PARATHYROID HYPOPLASIA(HP:0000860), CHOLELITHIASIS(HP:0001081), BIPOLAR AFFECTIVE DISORDER(HP:0007302), HYDRONEPHROSIS(HP:0000126), UNILATERAL RENAL AGENESIS(HP:0000122), HIGH-ARCHED PALATE(HP:0000156), IMMUNE DEFECT DUE TO A T CELL DEFICIT(HP:0005373), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), SCLEROCORNEA(HP:0000647), AMBLYOPIA(HP:0000646), OBESITY(HP:0001513), MILD TO MODERATE LEARNING DIFFICULTIES(HP:0007234), BIFID UVULA(HP:0000193), DECREASED BODY HEIGHT(HP:0004322), MICROGNATHIA(HP:0000210), LATE-ONSET SPEECH DEVELOPMENT(HP:0007004), SCOLIOSIS(HP:0002650), ATTENTION DEFICIT HYPERACTIVITY DISORDER(HP:0007018), RIGHT AORTIC ARCH(HP:0002627), HYPOCALCEMIA(HP:0002901)]
1716	DGUOK	[DISCONJUGATE EYE MOVEMENTS(HP:0000549), JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOTHERMIA(HP:0002045), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), LIVER TISSUE SHOWS 80 TO 99% DEPLETION OF MITOCHONDRIAL DNA(HP:0006581), HYPERREFLEXIA(HP:0001347), PERIPORTAL FIBROSIS(HP:0001405), HEPATOCELLULAR NECROSIS(HP:0001404), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), HEPATIC STEATOSIS(HP:0001397), HEPATIC FAILURE(HP:0001399), THROMBOCYTOPENIA(HP:0001873), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), POLYNEUROPATHY(HP:0001271), FAILURE TO THRIVE(HP:0001508), HYPOKINESIA(HP:0002375), MITOCHONDRIAL INHERITANCE(HP:0001427), ENCEPHALOPATHY(HP:0001298), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), PORTAL HYPERTENSION(HP:0001409), MICRONODULAR CIRRHOSIS(HP:0001413), HYPOALBUMINEMIA(HP:0003073), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), ASCITES(HP:0001541), MICROCEPHALY(HP:0000252), COAGULOPATHY(HP:0001925), DECREASED ACTIVITIES OF MITOCHONDRIAL-ENCODED RESPIRATORY CHAIN COMPLEXES(HP:0008972), HYPERBILIRUBINEMIA(HP:0002904), GENERALIZED AMINOACIDURIA(HP:0002909)]
1717	DHCR7	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRYPTORCHIDISM(HP:0000028), HYPOPLASTIC/SMALL THUMB(HP:0009778), CATARACT(HP:0000518), SCROTAL HYPOPLASIA(HP:0000046), HYPOSPADIAS(HP:0000047), BIFID SCROTUM(HP:0000048), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), ATRIAL SEPTAL DEFECT(HP:0001631), AMBIGUOUS GENITALIA(HP:0000062), BREECH PRESENTATION(HP:0001623), PREMATURE BIRTH(HP:0001622), CONGENITAL MEGACOLON(HP:0002251), NYSTAGMUS(HP:0000639), RENAL HYPOPLASIA(HP:0000089), RENAL CYSTS(HP:0000107), RENAL AGENESIS(HP:0000104), PERIVENTRICULAR GRAY MATTER HETEROTOPIAS(HP:0007165), HYDRONEPHROSIS(HP:0000126), DECREASED FETAL MOVEMENT(HP:0001558), CHOLESTATIC LIVER DISEASE(HP:0002611), HAMMER TOES(HP:0001765), DENTAL OVERCROWDING(HP:0000678), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), HYPOCHOLESTEROLEMIA(HP:0003146), SEVERE PHOTOSENSITIVITY(HP:0007537), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), ABNORMAL LUNG LOBATION(HP:0002101), GASTROINTESTINAL DYSMOTILITY(HP:0002579), BROAD ALVEOLAR RIDGES(HP:0000187), HYPERTONIA(HP:0001276), SEPTATE VAGINA(HP:0001153), SLEEP-WAKE CYCLE DISTURBANCE(HP:0006979), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SELF-MUTILATION(HP:0000742), HYPERACTIVITY(HP:0000752), MICROGNATHIA(HP:0000210), AUTISM(HP:0000717), AGGRESSIVE BEHAVIOR(HP:0000718), MICROCEPHALY(HP:0000252), COARCTATION OF AORTA(HP:0001680), EPICANTHUS(HP:0000286), HOLOPROSENCEPHALY(HP:0001360), PRECOCIOUS PUBERTY(HP:0000826), BICORNUATE UTERUS(HP:0000813), BITEMPORAL NARROWING(HP:0000314), HYPERTELORISM(HP:0000316), LONG PHILTRUM(HP:0000343), DANDY-WALKER MALFORMATION(HP:0001305), METATARSUS VARUS(HP:0001840), GENERALIZED HYPOTONIA(HP:0001290), 2-3 TOE SYNDACTYLY(HP:0004691), HYPOPLASTIC FRONTAL LOBES(HP:0007333), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), LOW-SET EARS(HP:0000369), POSTERIORLY ROTATED EARS(HP:0000358), HEARING LOSS(HP:0000365), POOR SUCK(HP:0002033), PROXIMALLY PLACED THUMB(HP:0009623), RECURRENT OTITIS MEDIA(HP:0000403), CONSTIPATION(HP:0002019), PYLORIC STENOSIS(HP:0002021), GASTROESOPHAGEAL REFLUX(HP:0002020), FLAT, BROAD NASAL BRIDGE(HP:0000439), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), PRENATAL GROWTH DEFICIENCY(HP:0001515), DECREASED BODY HEIGHT(HP:0004322), NARES, ANTEVERTED(HP:0000463), PTOSIS(HP:0000508), STRABISMUS(HP:0000486)]
1718	DHCR24	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), ALVEOLAR RIDGE OVERGROWTH(HP:0009085), MACROCEPHALY(HP:0000256), AMBIGUOUS GENITALIA, MALE(HP:0000033), RHIZOMELIC SHORTENING(HP:0002968), OSTEOSCLEROSIS(HP:0010738), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), AMBIGUOUS GENITALIA, FEMALE(HP:0000061), TOTAL ANOMALOUS PULMONARY VENOUS RETURN(HP:0005160), LOW-SET EARS(HP:0000369), CUP-SHAPED EARS(HP:0000378), POSTERIORLY ROTATED EARS(HP:0000358), BILATERAL CLUB FEET(HP:0001776), GINGIVAL FIBROMATOSIS(HP:0000169), CLEFT PALATE(HP:0000175), FRONTAL BOSSING(HP:0002007), DEVELOPMENTAL RETARDATION(HP:0001263), CONTRACTURES OF THE HANDS, MILD(HP:0006173), HYPOPLASTIC NASAL BRIDGE(HP:0005281), MICROGNATHIA(HP:0000210), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ABNORMALITY OF CHOLESTEROL METABOLISM(HP:0003107)]
1719	DHFR	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MEGALOBLASTIC ANEMIA(HP:0001889)]
1727	CYB5R3	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEADACHE(HP:0002315), ERYTHROCYTOSIS(HP:0001901), OPISTHOTONUS(HP:0002179), RESPIRATORY DIFFICULTIES(HP:0002880), METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), MICROCEPHALY(HP:0000252), GROWTH RETARDATION(HP:0001510), CYANOSIS(HP:0000961), HYPERTONIA(HP:0001276), STRABISMUS(HP:0000486), DYSPNEA(HP:0002094)]
1729	DIAPH1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), LOW-FREQUENCY HEARING LOSS(HP:0008542), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), PROGRESSIVE HEARING LOSS(HP:0001730), ONSET IN CHILDHOOD(HP:0003578)]
1733	DIO1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), GOITER(HP:0000853), ASYMPTOMATIC HYPERTHYROXINEMIA(HP:0008212)]
1736	DKC1	[HYPERPIGMENTATION(HP:0000953), PULMONARY FIBROSIS(HP:0002206), ORAL LEUKOPLAKIA(HP:0002745), SQUAMOUS CELL CARCINOMA(HP:0002860), URETHRAL STENOSIS(HP:0008661), MYELODYSPLASIA(HP:0002863), ESOPHAGEAL STRICTURE(HP:0002043), CEREBELLAR MALFORMATION(HP:0002438), OSTEOPOROSIS(HP:0000939), EPIPHORA(HP:0001486), DEATH IN EARLY CHILDHOOD(HP:0003817), CRYPTORCHIDISM(HP:0000028), SPARSE EYELASHES(HP:0000653), CATARACT(HP:0000518), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), PHIMOSIS(HP:0001741), HYPOSPADIAS(HP:0000047), CIRRHOSIS(HP:0001394), PANCYTOPENIA(HP:0001876), ANAL MUCOSAL LEUKOPLAKIA(HP:0005212), CARIOUS TEETH(HP:0000670), PREMATURE GRAYING OF HAIR(HP:0002216), RESTRICTIVE LUNG DISEASE(HP:0002091), PRENATAL GROWTH DEFICIENCY(HP:0001515), ACUTE MYELOID LEUKEMIA(HP:0004808), DERMAL ATROPHY(HP:0004334), DECREASED BODY HEIGHT(HP:0004322), HORSESHOE KIDNEY(HP:0000085), ALOPECIA(HP:0001596), X-LINKED RECESSIVE INHERITANCE(HP:0001419), CONJUNCTIVITIS(HP:0000509), PTERYGIUM FORMATION (NAILS)(HP:0002165), NAIL DYSPLASIA(HP:0002164), RETICULATED SKIN PIGMENTATION(HP:0007427), BLEPHARITIS(HP:0000498), LONGITUDINAL SPLITTING(HP:0001809), CEREBELLAR HYPOPLASIA(HP:0001321), EARLY TOOTH LOSS(HP:0001564), MICROCEPHALY(HP:0000252), HYPERHIDROSIS(HP:0000975), LONGITUDINAL RIDGING(HP:0001801), STOMATITIS(HP:0010280), DECREASED TESTICULAR SIZE(HP:0008734), STRABISMUS(HP:0000486)]
1737	DLAT	[DROOLING(HP:0002307), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), LACTIC ACIDOSIS, MAY BE MILD(HP:0005960), HYPERREFLEXIA(HP:0001347), ATAXIA(HP:0001251), POOR SPEECH(HP:0002465), CHOREOATHETOID MOVEMENTS(HP:0002469), MENTAL RETARDATION, MILD(HP:0001256), JERKY HEAD MOVEMENTS(HP:0006961), ONSET IN INFANCY(HP:0003576), OCULOMOTOR APRAXIA(HP:0000657), HYPOKINESIA(HP:0002375), NYSTAGMUS(HP:0000639), PTOSIS(HP:0000508), DYSTONIA, EPISODIC(HP:0002412), MICROCEPHALY(HP:0000252), NEONATAL HYPOTONIA(HP:0001319)]
1738	DLD	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CEREBRAL EDEMA(HP:0002181), HYPERREFLEXIA(HP:0001347), INCREASED CSF LACTATE(HP:0002490), MENTAL RETARDATION IF UNTREATED(HP:0003767), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), NYSTAGMUS(HP:0000639), PIGMENTARY RETINOPATHY(HP:0000580), DYSTONIA(HP:0001332), OPHTHALMOPLEGIA(HP:0000602), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), PANCREATITIS(HP:0001733), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), COMA(HP:0001259), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), HYPERTONIA(HP:0001276), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), HALLUCINATIONS(HP:0000738), ELEVATED PLASMA BRANCHED CHAIN AMINO ACIDS(HP:0008344), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), HYPERTRICHOSIS(HP:0000998), EMOTIONAL LABILITY(HP:0000712), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), KETOSIS(HP:0001946), INCREASED SERUM LACTATE(HP:0002151), DEMYELINATION(HP:0003381)]
1747	DLX3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TAURODONTIA(HP:0000679), HAIR ABNORMALITY(HP:0001595), SMALL, WIDELY SPACED TEETH(HP:0006307), DOLICHOCEPHALY(HP:0000268), FRONTAL BOSSING(HP:0002007), FRAGILE NAILS(HP:0001808), AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASIA TYPE(HP:0006284), OSTEOSCLEROSIS(HP:0010738)]
1756	DMD	[CALF MUSCLE PSEUDOHYPERTROPHY(HP:0003707), CONTRACTURES(HP:0001371), DILATED CARDIOMYOPATHY(HP:0001644), WEAKNESS(HP:0002309), CONGESTIVE HEART FAILURE(HP:0001635), X-LINKED RECESSIVE INHERITANCE(HP:0001419), LORDOSIS(HP:0002939), HYPOVENTILATION(HP:0002791), WADDLING GAIT(HP:0002515), INCREASED CREATINE KINASE(HP:0003078), MUSCULAR HYPOTONIA(HP:0001252), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), ONSET BEFORE AGE 2 YEARS(HP:0003667), SCOLIOSIS(HP:0002650), MUSCULAR DYSTROPHY(HP:0003560), MENTAL RETARDATION, MILD(HP:0001256), GOWER SIGN(HP:0003391), HYPOREFLEXIA(HP:0001265), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), RESPIRATORY INSUFFICIENCY(HP:0002093)]
1758	DMP1	[RICKETS(HP:0002748), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRANIOSYNOSTOSIS(HP:0001363), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPHOSPHATEMIC RICKETS(HP:0004912), OSTEOSCLEROSIS(HP:0010738)]
1760	DMPK	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), HYPOGONADISM(HP:0000135), EXCESSIVE DAYTIME SLEEPINESS(HP:0002189), FEEDING DIFFICULTIES(HP:0002022), FACIAL DIPLEGIA(HP:0001349), TESTICULAR ATROPHY(HP:0000029), OBSESSIVE-COMPULSIVE TRAIT(HP:0008770), RESPIRATORY DISTRESS(HP:0002098), CATARACT(HP:0000518), MUSCULAR HYPOTONIA(HP:0001252), DYSPHAGIA(HP:0002015), MYOTONIA(HP:0002486), HEART BLOCK(HP:0001668), FRONTAL BALDING (MALE PATTERN BALDNESS)(HP:0002292), CHOLELITHIASIS(HP:0001081), POLYHYDRAMNIOS(HP:0001561), ATRIAL ARRHYTHMIAS(HP:0001692), DECREASED FETAL MOVEMENT(HP:0001558), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
1785	DNM2	[PES CAVUS(HP:0001761), CONTRACTURES(HP:0001371), EXTERNAL OPHTHALMOPLEGIA(HP:0000544), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROXIMAL MUSCLE WEAKNESS(HP:0003701), DISTAL MUSCLE WEAKNESS(HP:0002460), DISTAL AMYOTROPHY(HP:0003693), CENTRALIZED NUCLEI(HP:0003687), MYOPATHY(HP:0003198), SLOW PROGRESSION(HP:0003677), MOTOR RETARDATION(HP:0001270), SLEEPY FACIAL EXPRESSION(HP:0005335), HYPOREFLEXIA(HP:0001265), HETEROGENEOUS(HP:0001425), SEGMENTAL DEMYELINATION(HP:0007107), FACIAL MUSCLE WEAKNESS(HP:0010628), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), AXONAL DEGENERATION(HP:0000764), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), X-LINKED INHERITANCE(HP:0001417), SEGMENTAL DEMYELINATION/REMYELINATION(HP:0003481), AREFLEXIA(HP:0001284), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), MUSCLE HYPERTROPHY(HP:0003712), EASY FATIGABILITY(HP:0003388), ONSET IN FIRST OR SECOND DECADE(HP:0003589), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383)]
1789	DNMT3B	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), MACROGLOSSIA(HP:0000158), MALABSORPTION(HP:0002024), NEURODEGENERATION(HP:0002180), SMALL, UPTURNED NOSE(HP:0003195), DIARRHEA(HP:0002014), HYPERTELORISM(HP:0000316), BRONCHIECTASIS(HP:0002110), MENTAL RETARDATION, MILD(HP:0001256), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), PNEUMONIA(HP:0002090), CHRONIC BRONCHITIS(HP:0004469), VARIABLE MENTAL RETARDATION(HP:0002382), DECREASED BODY HEIGHT(HP:0004322), MICROGNATHIA(HP:0000210), REDUCED NUMBER OF T CELLS(HP:0005403), LOW-SET EARS(HP:0000369), METABOLISM ABNORMALITY(HP:0001939), SINUSITIS(HP:0000246)]
1798	DPAGT1	[TRANSVERSE PALMAR CREASES(HP:0000954), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), MICROGNATHIA(HP:0000210), EXOTROPIA(HP:0000577), SKIN DIMPLES(HP:0010781), MICROCEPHALY(HP:0000252)]
1800	DPEP1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1806	DPYD	[TETRAPLEGIA(HP:0002445), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL ATROPHY(HP:0002059), MICROPHTHALMOS(HP:0000568), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), HYPERTONIA(HP:0001276), AGENESIS OF CORPUS CALLOSUM(HP:0001274), DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY(HP:0003654), ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500), SPEECH DELAY(HP:0002117), HYPERACTIVITY(HP:0000752), NYSTAGMUS(HP:0000639), AUTISM(HP:0000717), COLOBOMA(HP:0000589), MICROCEPHALY(HP:0000252)]
1807	DPYS	[TALIPES EQUINOVARUS(HP:0001762), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PLAGIOCEPHALY(HP:0001357), HIGHLY VARIABLE PHENOTYPE(HP:0003815), ANAL ATRESIA(HP:0002023), FEEDING DIFFICULTIES(HP:0002022), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), LETHARGY(HP:0001254), SEIZURES(HP:0001250), SOMNOLENCE(HP:0001262), GROWTH RETARDATION(HP:0001510), FACIAL DYSMORPHISM(HP:0001999), DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY(HP:0003654), ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500), SPEECH DELAY(HP:0002117), METABOLIC ACIDOSIS(HP:0001942), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), EXTRAPYRAMIDAL DYSKINESIA(HP:0007308)]
1811	SLC26A3	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ALKALOSIS(HP:0001948), DIARRHEA(HP:0002014), HYPERALDOSTERONISM(HP:0005975), HYPOCHLOREMIA(HP:0003113), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), HYPONATREMIA(HP:0002902), GROWTH ABNORMALITY(HP:0001507), HYPOKALEMIA(HP:0002900)]
1813	DRD2	[REDUCED PENETRANCE(HP:0003830), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TORTICOLLIS(HP:0000473), ANXIETY(HP:0000739), AGORAPHOBIA(HP:0000756), TREMOR(HP:0001337), MYOCLONUS(HP:0001336), MUSCULAR HYPOTONIA(HP:0001252), DEPRESSION(HP:0000716), ONSET IN CHILDHOOD OR EARLY ADOLESCENCE(HP:0003604), WRITER'S CRAMP(HP:0002356), OBSESSIVE-COMPULSIVE DISORDER(HP:0000722)]
1822	ATN1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CHOREA(HP:0002072), MEAN AGE OF ONSET 18 YEARS(HP:0003628), MYOCLONUS(HP:0001336), CEREBELLAR ATAXIA(HP:0001253), NEURONAL LOSS(HP:0002400), SEIZURES(HP:0001250), METABOLISM ABNORMALITY(HP:0001939), GENETIC ANTICIPATION(HP:0003743), CHOREOATHETOSIS(HP:0001266), DEMYELINATION(HP:0003381), DEMENTIA, PROGRESSIVE(HP:0002274)]
1824	DSC2	[PREMATURE SUDDEN CARDIAC DEATH(HP:0005161), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VENTRICULAR ARRHYTHMIA(HP:0004308), SYNCOPE(HP:0001279), DYSPNEA(HP:0002094), PALPITATIONS(HP:0001962)]
1828	DSG1	[STREAKS OF HYPERKERATOSIS ALONG EACH FINGER ONTO THE PALM(HP:0007501), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1829	DSG2	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), CARDIOMYOPATHY(HP:0001638), VENTRICULAR EXTRASYSTOLES(HP:0006682), PALPITATIONS(HP:0001962)]
1832	DSP	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), CARDIOMYOPATHY(HP:0001638), VENTRICULAR EXTRASYSTOLES(HP:0006682), NEONATAL DEATH(HP:0003811), PALMOPLANTAR KERATOSIS WITH ERYTHEMA AND SCALE(HP:0007548), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), SKIN EROSION(HP:0200041), NEONATAL TEETH(HP:0000695), SPARSE EYELASHES(HP:0000653), WOOLLY HAIR(HP:0002224), PHIMOSIS(HP:0001741), FAILURE TO THRIVE(HP:0001508), SPARSE EYEBROWS(HP:0000535), TAPERED DISTAL PHALANGES OF THE HAND(HP:0009884), HETEROGENEOUS(HP:0001425), ALOPECIA(HP:0001596), WIDELY SPACED TOES(HP:0008094), NAIL DYSPLASIA(HP:0002164), APLASIA CUTIS CONGENITA(HP:0001057)]
1834	DSPP	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), PULP STONES(HP:0003771), DEAFNESS(HP:0000404), PROGRESSIVE HIGH-FREQUENCY HEARING LOSS(HP:0008584), DENTINOGENESIS IMPERFECTA(HP:0000703), PERIAPICAL RADIOLUCENCIES(HP:0000700), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), SHELL TEETH(HP:0000694), PRIMARY AND SECONDARY TEETH AFFECTED(HP:0001567), TINNITUS(HP:0000360)]
1836	SLC26A2	[KYPHOSCOLIOSIS(HP:0002751), HYPOPLASTIC FEMORAL HEAD(HP:0008802), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LARYNGOTRACHEAL STENOSIS(HP:0004894), MICROMELIA(HP:0002983), ABDOMINAL DISTENTION(HP:0003270), INGUINAL HERNIA(HP:0000023), SPINAL CORD COMPRESSION(HP:0002176), HIP CONTRACTURES(HP:0003273), HOARSE VOICE(HP:0001609), CERVICAL KYPHOSIS(HP:0002947), NARROW CHEST(HP:0000774), STILLBORN OR DEATH SHORTLY AFTER BIRTH(HP:0001625), SHORT RIBS(HP:0000773), HIP DYSPLASIA(HP:0001385), NEONATAL CYSTIC LESIONS OF THE PINNAE(HP:0008557), BREECH PRESENTATION(HP:0001623), GAP BETWEEN FIRST AND SECOND TOES(HP:0001852), LIMITED ELBOW FLEXION(HP:0006376), SMALL CHEST(HP:0001590), SHORT, DUMBBELL FEMUR(HP:0006375), COSTAL CARTILAGE CALCIFICATION(HP:0006646), FLAT, IRREGULAR EPIPHYSES(HP:0004982), SHORT-LIMB DWARFISM IDENTIFIABLE AT BIRTH(HP:0001536), UMBILICAL HERNIA(HP:0001537), POLYHYDRAMNIOS(HP:0001561), SHORT LONG BONES(HP:0003026), HEARING LOSS(HP:0000365), GLABELLAR HEMANGIOMA(HP:0001076), TALIPES EQUINOVARUS(HP:0001762), HYPOPLASTIC ILIA(HP:0000946), HITCHHIKER THUMB(HP:0001234), CORONAL CLEFT VERTEBRAE(HP:0003417), HYDROPS FETALIS(HP:0001789), PLATYSPONDYLY(HP:0000926), CLEFT PALATE(HP:0000175), ARTHRALGIA(HP:0002829), FLATTENED NASAL BRIDGE(HP:0000425), PULMONARY HYPOPLASIA(HP:0002089), HORIZONTAL SACRUM(HP:0003440), HYPOPLASTIC CERVICAL VERTEBRAE(HP:0008434), RESPIRATORY INSUFFICIENCY(HP:0002093), HETEROGENEOUS(HP:0001425), MILD SHORTENING OF METACARPALS(HP:0006047), SHORT NECK(HP:0000470), ABSENT OR MINIMALLY OSSIFIED VERTEBRAL BODIES(HP:0004599), EPIPHYSEAL DYSPLASIA(HP:0002656), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), LUMBAR HYPERLORDOSIS(HP:0002938), MICROGNATHIA(HP:0000210), FLAT CAPITAL FEMORAL EPIPHYSES(HP:0003370), HYDROPS(HP:0000990), METABOLISM ABNORMALITY(HP:0001939), MULTIPLE EPIPHYSEAL DYSPLASIA(HP:0002654), HYPERTROPHIC AURICULAR CARTILAGE(HP:0008608)]
1839	HBEGF	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1861	TOR1A	[KYPHOSIS(HP:0002808), TORSION DYSTONIA(HP:0001304), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TORTICOLLIS(HP:0000473), LORDOSIS(HP:0002939), TREMOR(HP:0001337), MUSCULAR HYPOTONIA(HP:0001252), ABNORMAL POSTURING(HP:0002533), DYSARTHRIA(HP:0001260), SCOLIOSIS(HP:0002650), ISOLATED FOCAL DYSTONIA MAY OCCUR(HP:0007140), BLEPHAROSPASM(HP:0000643), WRITER'S CRAMP(HP:0002356), HYPERTONIA(HP:0001276), INVOLUNTARY MUSCLE CONTRACTIONS(HP:0004305)]
1863	DYT3	[TREMOR(HP:0001337), ABNORMALITY OF THE EYES(HP:0000478), MYOCLONUS(HP:0001336), TORSION DYSTONIA(HP:0001304), CHOREA(HP:0002072), PARKINSONISM(HP:0001300), X-LINKED RECESSIVE INHERITANCE(HP:0001419)]
1890	TYMP	[NEUROPATHY(HP:0003407), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), DISTAL AMYOTROPHY(HP:0003693), MALABSORPTION(HP:0002024), ABDOMINAL PAIN(HP:0002027), ELECTRON MICROSCOPY SHOWS SUBSARCOLEMMAL ACCUMULATIONS OF ABNORMALLY SHAPED MITOCHONDRIA(HP:0003548), MALNUTRITION(HP:0004395), GASTROINTESTINAL DYSMOTILITY(HP:0002579), GASTROPARESIS(HP:0002578), MUSCLE BIOPSY SHOWS MULTIPLE MITOCHONDRIAL DNA (MTDNA) DELETIONS IN MOST CASES(HP:0003801), VOMITING(HP:0002013), LEUKOENCEPHALOPATHY(HP:0002352), HYPODENSITY OF CEREBRAL WHITE MATTER ON MRI(HP:0007103), HYPOKINESIA(HP:0002375), RAGGED-RED MUSCLE FIBERS(HP:0003200), INTERMITTENT DIARRHEA(HP:0002254), DISTAL SENSORY IMPAIRMENT(HP:0002936), WEIGHT LOSS(HP:0001824), AREFLEXIA(HP:0001284), PTOSIS(HP:0000508), MUSCLE BIOPSY SHOWS DECREASED ACTIVITY OF CYTOCHROME C OXIDASE IN MOST CASES(HP:0003734), LACTIC ACIDEMIA(HP:0003128), DISTAL LIMB MUSCLE WEAKNESS(HP:0003497), MITOCHONDRIAL MYOPATHY(HP:0003737), EXTERNAL OPHTHALMOPLEGIA, PROGRESSIVE (PEO)(HP:0000590)]
1893	ECM1	[HOARSE VOICE(HP:0001609), SEIZURES(HP:0001250), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BILATERAL INTRACRANIAL CALCIFICATIONS(HP:0005671), ABNORMALITY OF THE SKIN(HP:0000951), MEMORY IMPAIRMENT(HP:0002354)]
1896	EDA	[DRY SKIN(HP:0000958), HYPOPLASTIC-ABSENT SEBACEOUS GLANDS(HP:0007411), TAURODONTIA(HP:0000679), OLIGODONTIA(HP:0000677), INTOLERANCE TO HEAT AND FEVER(HP:0002046), CONICAL TEETH(HP:0000698), MICRODONTIA(HP:0000691), PERIORBITAL HYPERPIGMENTATION(HP:0001106), MILD LOCALIZED PIGMENTATION ABNORMALITIES(HP:0007622), HOARSE VOICE(HP:0001609), NASAL HYPOPLASIA(HP:0003196), FRONTAL BOSSING(HP:0002007), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), HYPODONTIA(HP:0000668), PROMINENT LIPS(HP:0000184), ABSENT EYEBROWS(HP:0002223), ABSENT NIPPLES(HP:0002561), HYPOPLASTIC NASAL ALAE(HP:0000430), DYSPHONIA(HP:0001618), DEPRESSED NASAL ROOT AND BRIDGE(HP:0005280), SOFT, THIN SKIN(HP:0001020), PROMINENT SUPRAORBITAL RIDGES(HP:0000336), HYPOPLASTIC-ABSENT ECCRINE SWEAT GLANDS(HP:0007592), HYPOPLASIA OF THE MAXILLA(HP:0000327), KOILONYCHIA(HP:0001598), HYPOTRICHOSIS(HP:0001006), X-LINKED RECESSIVE INHERITANCE(HP:0001419), X-LINKED DOMINANT INHERITANCE(HP:0001423), SMALL CHIN(HP:0000331), RESPIRATORY DIFFICULTIES(HP:0002880), FINE, BRITTLE HAIR(HP:0002299), ANHIDROSIS(HP:0000970), SCANT EYELASHES(HP:0007853), HYPOHIDROSIS(HP:0000966), PERIORBITAL WRINKLES(HP:0000607), ECZEMA(HP:0000964)]
1908	EDN3	[HETEROCHROMIA IRIDIS(HP:0001100), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), ABNORMALITY OF THE MOUTH(HP:0000153), DECREASED MYENTERIC AND SUBMUCOSAL GANGLIA IN THE BOWEL(HP:0002596), WHITE EYEBROWS(HP:0002226), WHITE EYELASHES(HP:0002227), PREMATURE GRAYING OF HAIR(HP:0002216), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), WHITE FORELOCK(HP:0002211), HETEROGENEOUS(HP:0001425), HYPOPIGMENTED SKIN PATCHES(HP:0001053), CONGENITAL MEGACOLON(HP:0002251), BLUE IRIDES(HP:0000635), LOW-SET EARS(HP:0000369), POSTERIORLY ROTATED EARS(HP:0000358), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
1909	EDNRA	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PHOTOPHOBIA(HP:0000613), MIGRAINE WITH AURA(HP:0002077), VOMITING(HP:0002013), MIGRAINE WITHOUT AURA(HP:0002083), NAUSEA(HP:0002018), PHONOPHOBIA(HP:0002183)]
1910	EDNRB	[HETEROCHROMIA IRIDIS(HP:0001100), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SPASTIC PARAPARESIS(HP:0002313), DEAFNESS(HP:0000404), DECREASED MYENTERIC AND SUBMUCOSAL GANGLIA IN THE BOWEL(HP:0002596), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), RETINAL DEPIGMENTATION(HP:0001111), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), WHITE EYEBROWS(HP:0002226), WHITE EYELASHES(HP:0002227), ABNORMAL AUDITORY EVOKED POTENTIALS(HP:0006958), POLYNEUROPATHY(HP:0001271), PREMATURE GRAYING OF HAIR(HP:0002216), GROWTH ABNORMALITY(HP:0001507), WHITE FORELOCK(HP:0002211), HETEROGENEOUS(HP:0001425), AUTONOMIC DYSREGULATION(HP:0002271), ALBINISM(HP:0001022), HYPOPIGMENTED SKIN PATCHES(HP:0001053), CONGENITAL MEGACOLON(HP:0002251), BLUE IRIDES(HP:0000635), NYSTAGMUS(HP:0000639), LEUKODYSTROPHY(HP:0002415)]
1947	EFNB1	[HYPOSPADIAS(HP:0000047), HYPERTELORISM(HP:0000316), JOINT LAXITY(HP:0001388), SHAWL SCROTUM(HP:0000049), DIAPHRAGMATIC HERNIA(HP:0000776), WIDOW'S PEAK(HP:0000349), FACIAL ASYMMETRY(HP:0000324), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), NYSTAGMUS(HP:0000639), EXOTROPIA(HP:0000577), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), GROOVED NAILS(HP:0001811), UMBILICAL HERNIA(HP:0001537), AXILLARY PTERYGIA(HP:0001060), LONGITUDINAL SPLITTING(HP:0001809), CORONAL CRANIOSYNOSTOSIS(HP:0004440), FRAGILE NAILS(HP:0001808), SLOPING SHOULDERS(HP:0001556), CLAVICLE PSEUDOARTHROSIS(HP:0006612), BROAD HALLUX(HP:0010055), ASYMMETRIC LEG SHORTENING(HP:0005618), TOE SYNDACTYLY(HP:0001770), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), FRONTAL BOSSING(HP:0002007), DEVELOPMENTAL RETARDATION(HP:0001263), PSEUDOARTHROSIS(HP:0005864), BREAST HYPOPLASIA(HP:0003187), SPRENGEL ANOMALY(HP:0000912), BROAD NASAL ROOT(HP:0000424), CLEFT LIP(HP:0000204), BRACHYDACTYLY(HP:0001156), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), PECTUS EXCAVATUM(HP:0000767), BIFID NASAL TIP(HP:0000456), X-LINKED DOMINANT INHERITANCE(HP:0001423), LOW POSTERIOR HAIRLINE(HP:0002162), TELECANTHUS(HP:0000506), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), BRACHYCEPHALY(HP:0000248), HYPOPLASTIC NASAL TIP(HP:0005278)]
1956	EGFR	[ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
1959	EGR2	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE SEVERITY(HP:0003814), ONSET AT BIRTH(HP:0003577), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), SEGMENTAL DEMYELINATION(HP:0007107), CRANIAL NERVE INVOLVEMENT(HP:0003480), UPPER LIMB INVOLVEMENT MAY OCCUR LATER(HP:0003484), AREFLEXIA(HP:0001284), SEVERELY DECREASED MOTOR NERVE CONDUCTION VELOCITY(HP:0006907), NEONATAL HYPOTONIA(HP:0001319), NEUROPATHY(HP:0003407), PES CAVUS(HP:0001761), HAMMER TOES(HP:0001765), DISTAL AMYOTROPHY(HP:0003693), ARTHROGRYPOSIS MULTIPLEX CONGENITA MAY OCCUR(HP:0005859), SEGMENTAL DEMYELINATION/REMYELINATION ON NERVE BIOPSY(HP:0003425), MOTOR RETARDATION(HP:0001270), HYPOREFLEXIA(HP:0001265), RESPIRATORY INSUFFICIENCY(HP:0002093), HETEROGENEOUS(HP:0001425), INCREASED CSF PROTEIN(HP:0002922), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV) (LESS THAN 38 M/S)(HP:0000760), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178), SEVERE HYPOMYELINATION ON NERVE BIOPSY(HP:0007012), FOOT DROP(HP:0003377), 'STEPPAGE' GAIT(HP:0003376), ONSET IN FIRST OR SECOND DECADE(HP:0003589), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383), HYPERTROPHIC NERVE CHANGES(HP:0003382)]
1967	EIF2B1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), UNSTEADY GAIT(HP:0002317), MACROCEPHALY(HP:0000256), LETHARGY(HP:0001254), COGNITIVE DEFICITS(HP:0002337), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), PRIMARY AMENORRHEA(HP:0000786), OPTIC ATROPHY(HP:0000648), HYPOMYELINATION(HP:0003429), DYSARTHRIA(HP:0001260), LEUKOENCEPHALOPATHY, SEVERE(HP:0007073), SPASTICITY(HP:0001257), MEMORY LOSS(HP:0002081), ONSET IN ADULTHOOD(HP:0003581), CESSATION OF HEAD GROWTH IN AFFECTED INFANTS(HP:0004485), DELUSIONS(HP:0000746), PRIMARY GONADAL INSUFFICIENCY(HP:0008193), PERSONALITY CHANGES(HP:0000751), BLINDNESS(HP:0000618), APATHY(HP:0000741), DEVELOPMENTAL REGRESSION(HP:0002376), PREMATURE OVARIAN FAILURE(HP:0008209), SECONDARY AMENORRHEA(HP:0000869), EMOTIONAL LABILITY(HP:0000712), DECREASED SERUM PROGESTERONE(HP:0008233), GLIOSIS(HP:0002171), FEVER(HP:0001945), DEMYELINATION(HP:0003381), LATE ONSET(HP:0003584)]
1991	ELANE	[GRANULOCYTOPENIA(HP:0001913), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE MOUTH(HP:0000153), THROMBOCYTOSIS(HP:0001894), EOSINOPHILIA(HP:0001880), HYPERGAMMAGLOBULINEMIA(HP:0004435), ACUTE MONOCYTIC LEUKEMIA(HP:0004845), NEUTROPENIA(HP:0001875), FEVER(HP:0001945), GROWTH ABNORMALITY(HP:0001507)]
2002	ELK1	[X-LINKED INHERITANCE(HP:0001417), NEOPLASIA(HP:0002664)]
2006	ELN	[LOOSE, REDUNDANT SKIN(HP:0001582), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PULMONARY ARTERY STENOSIS(HP:0004415), AORTIC INSUFFICIENCY(HP:0001659), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), PERIPHERAL ARTERIAL STENOSIS(HP:0004928), INGUINAL HERNIA(HP:0000023), ABNORMALITY OF THE FACE(HP:0000271), MITRAL REGURGITATION(HP:0001653), EMPHYSEMA(HP:0002097), SUPRAVALVULAR AORTIC STENOSIS(HP:0004381)]
2010	EMD	[ELBOW CONTRACTURES(HP:0002987), WEAKNESS(HP:0002309), ACHILLES TENDON CONTRACTURES(HP:0001771), DECREASED CERVICAL SPINE FLEXION DUE TO CONTRACTURES OF POSTERIOR CERVICAL MUSCLES(HP:0004631), MYOPATHY(HP:0003198), SLOW PROGRESSION(HP:0003677), GENERALIZED MUSCLE WEAKNESS(HP:0003324), ONSET IN ADULTHOOD(HP:0003581), ONSET IN CHILDHOOD(HP:0003578), SUDDEN DEATH(HP:0001699), ABNORMALITY OF THE NECK(HP:0000464), X-LINKED RECESSIVE INHERITANCE(HP:0001419), WADDLING GAIT(HP:0002515), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), ABNORMALITY OF THE CARDIAC ATRIA(HP:0005120), ATRIOVENTRICULAR BLOCK(HP:0001678), INTEROSSEUS MUSCLE ATROPHY(HP:0007181), INCREASED SERUM CREATINE KINASE(HP:0002147), ATRIAL ARRHYTHMIAS(HP:0001692)]
2022	ENG	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SPONTANEOUS, RECURRENT EPISTAXIS(HP:0004406), HEPATIC ARTERIOVENOUS MALFORMATION(HP:0006574), ERYTHROCYTOSIS(HP:0001901), ANEMIA(HP:0001903), CONJUNCTIVAL TELANGIECTASIA(HP:0000524), CIRRHOSIS(HP:0001394), PALATE TELANGIECTASIA(HP:0002707), PULMONARY ARTERIOVENOUS MALFORMATION(HP:0006548), MELENA(HP:0002249), HEMATEMESIS(HP:0002248), CLUBBING(HP:0001217), CELIAC DISEASE(HP:0002608), FINGERPAD TELANGIECTASES(HP:0006107), MIGRAINE(HP:0002076), NAIL BED TELANGIECTASES(HP:0001232), TRANSIENT ISCHEMIC ATTACK(HP:0002326), TELANGIECTASES (STOMACH, DUODENUM, SMALL BOWEL, COLON)(HP:0002604), SEIZURES(HP:0001250), NASAL MUCOSA TELANGIECTASES(HP:0000434), HEMATOCHEZIA(HP:0002573), DYSPNEA(HP:0002094), HETEROGENEOUS(HP:0001425), ISCHEMIC STROKE(HP:0002140), GASTROINTESTINAL ANGIODYSPLASIA(HP:0000471), SUBARACHNOID HEMORRHAGE(HP:0002138), SPINAL ARTERIOVENOUS MALFORMATION(HP:0002390), LIP TELANGIECTASES(HP:0000214), HIGH-OUTPUT CONGESTIVE HEART FAILURE(HP:0001722), ARTERIOVENOUS FISTULAS OF CELIAC AND MESENTERIC VESSELS(HP:0002642), CEREBRAL ARTERIOVENOUS MALFORMATION(HP:0002408), TONGUE TELANGIECTASES(HP:0000227), VENOUS VARICOSITIES OF CELIAC AND MESENTERIC VESSELS(HP:0002626), GASTROINTESTINAL ARTERIOVENOUS MALFORMATION(HP:0002629), CYANOSIS(HP:0000961), RIGHT-TO-LEFT SHUNT(HP:0001694), ARTERIAL ANEURYSM OF CELIAC AND MESENTERIC VESSELS(HP:0002636)]
2027	ENO3	[ELEVATED CREATINE KINASE AFTER EXERCISE(HP:0008331), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYALGIA(HP:0003326), MUSCLE WEAKNESS(HP:0001324), ONSET IN ADULTHOOD(HP:0003581), EXERCISE INTOLERANCE(HP:0003546)]
2033	EP300	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DEVIATED NASAL SEPTUM(HP:0004411), THICK EYEBROWS(HP:0000574), CRYPTORCHIDISM(HP:0000028), CHORIORETINAL DYSTROPHY(HP:0001135), CATARACT(HP:0000518), RECURRENT INFECTIONS(HP:0002719), FRONTAL HAIR UPSWEEP(HP:0002236), LONG EYELASHES(HP:0000527), HYPOSPADIAS(HP:0000047), LARGE FORAMEN MAGNUM(HP:0002700), SHAWL SCROTUM(HP:0000049), VENTRICULAR SEPTAL DEFECT(HP:0001629), PARIETAL FORAMINA(HP:0002697), SPINA BIFIDA OCCULTA(HP:0003298), ATRIAL SEPTAL DEFECT(HP:0001631), HIGHLY ARCHED EYEBROWS(HP:0001584), NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579), COLOBOMA(HP:0000589), PLANTAR CREASE BETWEEN FIRST AND SECOND TOES(HP:0008107), PES PLANUS(HP:0001763), DENTAL OVERCROWDING(HP:0000678), HIGH-ARCHED PALATE(HP:0000156), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), RENAL CELL CARCINOMA(HP:0005584), SMALL, FLARED ILIAC WINGS(HP:0003181), ENOPHTHALMOS(HP:0000663), AGENESIS OF CORPUS CALLOSUM(HP:0001274), SYNDACTYLY(HP:0001159), POLYDACTYLY (HANDS)(HP:0001161), SHORT ATTENTION SPAN(HP:0000736), SPEECH DELAY(HP:0002117), ABNORMALITY OF THE STERNUM(HP:0000766), MICROGNATHIA(HP:0000210), LOW POSTERIOR HAIRLINE(HP:0002162), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), PROMINENT FINGERTIP PADS(HP:0001212), RETROGNATHIA(HP:0000278), EPICANTHUS(HP:0000286), WIDE ANTERIOR FONTANEL(HP:0000260), DISLOCATION OF PATELLA(HP:0002999), DELAYED CLOSURE OF FONTANELLES(HP:0000270), HYPERREFLEXIA(HP:0001347), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), POOR SPEECH(HP:0002465), LOW FRONTAL HAIRLINE(HP:0000294), JOINT HYPERMOBILITY(HP:0001382), HYPOPLASIA OF THE MAXILLA(HP:0000327), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), LOW-SET EARS(HP:0000369), ABNORMAL FORM OF EARS(HP:0000377), HEARING LOSS(HP:0000365), BROAD HALLUX(HP:0010055), CAFE-AU-LAIT SPOTS(HP:0000957), TRANSVERSE PALMAR CREASES(HP:0000954), UNSTEADY GAIT(HP:0002317), CONSTIPATION(HP:0002019), BROAD PHALANGES OF THE THUMB(HP:0009651), COLUMELLA, SHORT(HP:0002000), BEAKED NOSE(HP:0000444), FRONTAL BOSSING(HP:0002007), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), EEG ABNORMALITIES(HP:0002353), BROAD NASAL BRIDGE(HP:0000431), POOR COORDINATION(HP:0002370), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), DECREASED BODY HEIGHT(HP:0004322), HIRSUTISM(HP:0001007), INCREASED RISK OF LEUKEMIA(HP:0006726), CAPILLARY HEMANGIOMAS(HP:0005306), PTOSIS(HP:0000508), GLAUCOMA(HP:0000501), UTERINE LEIOMYOSARCOMA(HP:0002891), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
2038	EPB42	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEMOLYTIC ANEMIA(HP:0001878), JAPANESE TYPE HEREDITARY SPHEROCYTOSIS(HP:0004816)]
2040	STOM	[INCREASED RED CELL OSMOTIC FRAGILITY(HP:0005502), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), STOMATOCYTOSIS(HP:0004446), HEMOLYTIC ANEMIA(HP:0001878), PALLOR(HP:0000980), INCREASED INTRACELLULAR SODIUM(HP:0003575)]
2052	EPHX1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
2055	CLN8	[GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CLUMSINESS(HP:0002312), AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074), SLOW PROGRESSION(HP:0003677), ATAXIA(HP:0001251), MENTAL RETARDATION BY AGE 30 YEARS(HP:0006833), EEG ABNORMALITIES(HP:0002353), MENTAL DETERIORATION(HP:0001268), PROGRESSIVE VISUAL LOSS(HP:0000529), CEREBELLAR ATROPHY, PROGRESSIVE(HP:0002364), IRRITABILITY(HP:0000737), DEVELOPMENTAL REGRESSION(HP:0002376), 'CURVILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003205), COMPLEX PARTIAL SEIZURES(HP:0002384), SPEECH AND LANGUAGE DIFFICULTIES(HP:0002399), MYOCLONUS(HP:0001336), RESTLESSNESS(HP:0000711), CEREBRAL ATROPHY, PROGRESSIVE(HP:0002422)]
2064	ERBB2	[CHRONIC ATROPHIC GASTRITIS(HP:0002582), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GLIOMA(HP:0009733), ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086)]
2065	ERBB3	[AKINESIA(HP:0002304), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEUROGENIC MUSCLE ATROPHY(HP:0003702), RESPIRATORY FAILURE IN INFANCY(HP:0004877), SEVERE MYOPIA (> -6.00 DIOPTERS)(HP:0000569), ARTHROGRYPOSIS(HP:0001390), VENTRICULAR SEPTAL DEFECT(HP:0001629), DEGENERATIVE VITREORETINOPATHY(HP:0007964), MICROGNATHIA(HP:0000210), HYDROPS(HP:0000990), POLYHYDRAMNIOS(HP:0001561), HYDRONEPHROSIS(HP:0000126), DECREASED FETAL MOVEMENT(HP:0001558)]
2068	ERCC2	[XERODERMA PIGMENTOSUM(HP:0007415), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ICHTHYOSIS(HP:0000955), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MALIGNANT MELANOMA(HP:0002861), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOGONADISM(HP:0000135), ABNORMALITY OF HAIR TEXTURE(HP:0010719), FRECKLING(HP:0001480), ASTHMA(HP:0002099), CATARACT(HP:0000518), RECURRENT INFECTIONS(HP:0002719), ATAXIA(HP:0001251), MENTAL RETARDATION(HP:0001249), SPASTICITY(HP:0001257), LACK OF SUBCUTANEOUS FATTY TISSUE(HP:0007519), MENTAL DETERIORATION(HP:0001268), INTESTINAL OBSTRUCTION(HP:0005214), CHOREOATHETOSIS(HP:0001266), HYPOREFLEXIA(HP:0001265), LOW BIRTH WEIGHT(HP:0001518), ECTROPION(HP:0000656), FACIAL DYSMORPHISM(HP:0001999), DERMAL ATROPHY(HP:0004334), ERYTHRODERMA(HP:0001019), COLLODION BABY(HP:0001021), PHOTOPHOBIA(HP:0000613), TELANGIECTASIA(HP:0001009), DECREASED BODY HEIGHT(HP:0004322), POIKILODERMA(HP:0001029), ENTROPION(HP:0000621), CONGENITAL ICHTHYOSIS(HP:0007484), ABNORMALITY OF THE THORAX(HP:0000765), PHOTOSENSITIVITY(HP:0000992), LOW INTELLIGENCE(HP:0001286), DEFECTIVE DNA REPAIR AFTER ULTRAVIOLET RADIATION DAMAGE(HP:0003079), CONJUNCTIVITIS(HP:0000509), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA(HP:0007431), AGED LEONINE APPEARANCE(HP:0008509), FRAGILE NAILS(HP:0001808), MICROCEPHALY(HP:0000252), EARLY ONSET(HP:0003593), KERATITIS(HP:0000491), DECREASED IGG LEVEL(HP:0004315), GENITAL HYPOPLASIA(HP:0003241), LATE ONSET(HP:0003584)]
2070	EYA4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
2071	ERCC3	[XERODERMA PIGMENTOSUM(HP:0007415), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF HAIR TEXTURE(HP:0010719), HYPERREFLEXIA(HP:0001347), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), RECURRENT INFECTIONS(HP:0002719), INTESTINAL OBSTRUCTION(HP:0005214), INCREASED CELLULAR SENSITIVITY TO UV LIGHT(HP:0003224), ABNORMAL MYELINATION(HP:0002520), WIZENED FACE(HP:0000335), PIGMENTARY RETINOPATHY(HP:0000580), AGED LEONINE APPEARANCE(HP:0008509), FRAGILE NAILS(HP:0001808), ICHTHYOSIS(HP:0000955), SQUAMOUS CELL CARCINOMA(HP:0002860), MALIGNANT MELANOMA(HP:0002861), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOGONADISM(HP:0000135), FRECKLING(HP:0001480), ASTHMA(HP:0002099), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), LACK OF SUBCUTANEOUS FATTY TISSUE(HP:0007519), LOW BIRTH WEIGHT(HP:0001518), CEREBELLAR ATROPHY(HP:0001272), DERMAL ATROPHY(HP:0004334), BASAL GANGLIA CALCIFICATION(HP:0002135), ERYTHRODERMA(HP:0001019), INCREASED RISK OF MALIGNANCY(HP:0006741), COLLODION BABY(HP:0001021), DECREASED BODY HEIGHT(HP:0004322), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), VENTRICULOMEGALY(HP:0002119), ABNORMALITY OF THE THORAX(HP:0000765), PHOTOSENSITIVITY(HP:0000992), BASAL CELL CARCINOMA(HP:0002671), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA(HP:0007431), MICROCEPHALY(HP:0000252), DECREASED IGG LEVEL(HP:0004315)]
2072	ERCC4	[NEOPLASIA OF THE SKIN(HP:0008069), NUMEROUS PIGMENTED FRECKLES(HP:0007587), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE CENTRAL NERVOUS SYSTEM(HP:0002011), PHOTOSENSITIVITY(HP:0000992), SKIN PAPULES(HP:0200034)]
2073	ERCC5	[XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G(HP:0006736), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEFECTIVE DNA REPAIR AFTER ULTRAVIOLET RADIATION DAMAGE(HP:0003079)]
2074	ERCC6	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPLASIA OF THE IRIS(HP:0007676), SMALL, SQUARED OFF PELVIS(HP:0003278), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), PIGMENTATION ANOMALIES OF SUN-EXPOSED SKIN(HP:0007623), CATARACT(HP:0000518), CORNEAL CLOUDING(HP:0000515), MICROPENIS(HP:0000054), HYPERMETROPIA(HP:0000540), PHOTOPHOBIA(HP:0000613), INCREASED CELLULAR SENSITIVITY TO UV LIGHT(HP:0003224), POIKILODERMA(HP:0001029), ENTROPION(HP:0000621), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), REDUCED SUBCUTANEOUS ADIPOSE TISSUE(HP:0003758), DECREASED LACRIMATION(HP:0000633), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), PIGMENTARY RETINOPATHY(HP:0000580), BLEPHAROPHIMOSIS(HP:0000581), SECOND METATARSAL POSTERIORLY PLACED(HP:0008125), WIDE INTERMAMILLARY DISTANCE(HP:0006610), DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680), DISTURBED VISUAL AND BRAINSTEM AUDITORY EVOKED RESPONSES INDICATIVE OF CNS DEMYELINATION(HP:0003151), CEREBRAL ATROPHY(HP:0002059), ABSENT/HYPOPLASTIC TEETH(HP:0000688), DENTAL MALOCCLUSION(HP:0000689), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), PREMATURELY AGED APPEARANCE(HP:0007495), VERTEBRAL CALCIFICATIONS(HP:0008420), SPASTICITY(HP:0001257), SPLENOMEGALY(HP:0001744), POLYNEUROPATHY(HP:0001271), CARIOUS TEETH(HP:0000670), MENTAL DETERIORATION(HP:0001268), CHOREOATHETOSIS(HP:0001266), HYPOREFLEXIA(HP:0001265), PNEUMONIA(HP:0002090), AGENESIS OF CORPUS CALLOSUM(HP:0001274), ECTROPION(HP:0000656), COXA VALGA(HP:0002673), BASAL GANGLIA CALCIFICATION(HP:0002135), MILD TO MODERATE JOINT LIMITATION(HP:0003101), THICKENED CALVARIA(HP:0002684), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), MICROGNATHIA(HP:0000210), DEFECTIVE DNA REPAIR AFTER ULTRAVIOLET RADIATION DAMAGE(HP:0003079), ABNORMAL MYELINATION IN SURAL NERVE BIOPSIES(HP:0003130), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), GLIOSIS(HP:0002171), MICROCEPHALY(HP:0000252), EARLY ONSET(HP:0003593), HYPERTENSION(HP:0000822), ELBOW CONTRACTURES(HP:0002987), KNEE CONTRACTURES(HP:0002978), LOSS OF FACIAL ADIPOSE TISSUE(HP:0000292), MANDIBULAR PROGNATHIA(HP:0000303), LONG PHILTRUM(HP:0000343), SUBCORTICAL WHITE MATTER CALCIFICATIONS(HP:0007346), SLOPING FOREHEAD(HP:0000340), LONGITUDINAL GROOVE ON SOLES(HP:0004681), CEREBELLAR CALCIFICATIONS(HP:0007352), DYSMYELINATION(HP:0003469), WIZENED FACE(HP:0000335), LOW INTELLIGENCE(HP:0001286), AREFLEXIA(HP:0001284), TREMOR(HP:0001337), ABNORMAL FORM OF EARS(HP:0000377), CEREBELLAR HYPOPLASIA(HP:0001321), PATCHY DEMYELINATION OF SUBCORTICAL WHITE MATTER(HP:0002545), CEREBRAL AND OLIVOPONTOCEREBELLAR ATROPHY(HP:0005683), DRY SKIN(HP:0000958), CAMPTODACTYLY (HANDS)(HP:0010563), WEAKNESS(HP:0002309), MALIGNANT MELANOMA(HP:0002861), HEARING LOSS, SENSORINEURAL(HP:0000407), OSTEOPOROSIS(HP:0000939), HYPOPLASTIC ILIAC WINGS(HP:0002866), FRECKLING(HP:0001480), SEVERE FAILURE TO THRIVE(HP:0001525), NORMAL PRESSURE HYDROCEPHALUS(HP:0002343), PROMINENT NASAL ROOT(HP:0000432), INTRAUTERINE GROWTH RETARDATION(HP:0001511), SLENDER NOSE(HP:0000417), LOW BIRTH WEIGHT(HP:0001518), DERMAL ATROPHY(HP:0004334), CACHECTIC DWARFISM(HP:0001424), HETEROGENEOUS(HP:0001425), IVORY EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010234), TELANGIECTASIA(HP:0001009), INFANTILE SEIZURES(HP:0002391), HIRSUTISM(HP:0001007), CONGENITAL VERTICAL TALUS(HP:0010218), PHOTOSENSITIVITY(HP:0000992), ATYPICAL SCARRING(HP:0000987), CONJUNCTIVITIS(HP:0000509), GONADAL HYPOPLASIA(HP:0008639), ANHIDROSIS(HP:0000970), KERATITIS(HP:0000491), DEEP SET EYES(HP:0000490), STRABISMUS(HP:0000486), MICROCORNEA(HP:0000482)]
2108	ETFA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GLUTARIC ACIDEMIA(HP:0003530), MACROCEPHALY(HP:0000256), SELECTIVE PROXIMAL TUBULAR DAMAGE(HP:0000806), WIDE ANTERIOR FONTANEL(HP:0000260), RENAL CORTICAL CYSTS(HP:0000803), NEONATAL DEATH FREQUENT(HP:0003820), CONGENITAL CATARACT(HP:0000519), ETHYLMALONIC ACIDURIA(HP:0003219), ABNORMALITY OF THE GENITAL TRACT(HP:0000078), HIGH FOREHEAD(HP:0000348), PACHYGYRIA(HP:0001302), FATTY INFILTRATION OF LIVER(HP:0002252), HEPATOMEGALY(HP:0002240), DEFECTIVE DEHYDROGENATION OF ISOVALERYL COA AND BUTYRYL COA(HP:0003490), ABNORMAL FORM OF EARS(HP:0000377), MUSCLE WEAKNESS(HP:0001324), HYPOGLYCEMIC COMA(HP:0001325), POLYCYSTIC KIDNEY(HP:0000113), HEPATIC PERIPORTAL NECROSIS(HP:0002614), JAUNDICE(HP:0000952), GLUTARIC ACIDURIA(HP:0003150), NAUSEA(HP:0002018), RESPIRATORY DISTRESS(HP:0002098), MUSCULAR HYPOTONIA(HP:0001252), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), PULMONARY HYPOPLASIA(HP:0002089), FACIAL DYSMORPHISM(HP:0001999), ELECTRON TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE DEFECT(HP:0003647), GLYCOSURIA(HP:0003076), HYPOGLYCEMIA(HP:0001943), ACIDOSIS(HP:0001941), TELECANTHUS(HP:0000506), GLIOSIS(HP:0002171), GENERALIZED AMINOACIDURIA(HP:0002909)]
2109	ETFB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GLUTARIC ACIDEMIA(HP:0003530), MACROCEPHALY(HP:0000256), SELECTIVE PROXIMAL TUBULAR DAMAGE(HP:0000806), WIDE ANTERIOR FONTANEL(HP:0000260), RENAL CORTICAL CYSTS(HP:0000803), NEONATAL DEATH FREQUENT(HP:0003820), CONGENITAL CATARACT(HP:0000519), ETHYLMALONIC ACIDURIA(HP:0003219), ABNORMALITY OF THE GENITAL TRACT(HP:0000078), HIGH FOREHEAD(HP:0000348), PACHYGYRIA(HP:0001302), FATTY INFILTRATION OF LIVER(HP:0002252), HEPATOMEGALY(HP:0002240), DEFECTIVE DEHYDROGENATION OF ISOVALERYL COA AND BUTYRYL COA(HP:0003490), ABNORMAL FORM OF EARS(HP:0000377), MUSCLE WEAKNESS(HP:0001324), HYPOGLYCEMIC COMA(HP:0001325), POLYCYSTIC KIDNEY(HP:0000113), HEPATIC PERIPORTAL NECROSIS(HP:0002614), JAUNDICE(HP:0000952), GLUTARIC ACIDURIA(HP:0003150), NAUSEA(HP:0002018), RESPIRATORY DISTRESS(HP:0002098), MUSCULAR HYPOTONIA(HP:0001252), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), PULMONARY HYPOPLASIA(HP:0002089), FACIAL DYSMORPHISM(HP:0001999), ELECTRON TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE DEFECT(HP:0003647), GLYCOSURIA(HP:0003076), HYPOGLYCEMIA(HP:0001943), ACIDOSIS(HP:0001941), TELECANTHUS(HP:0000506), GLIOSIS(HP:0002171), GENERALIZED AMINOACIDURIA(HP:0002909)]
2110	ETFDH	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GLUTARIC ACIDEMIA(HP:0003530), SELECTIVE PROXIMAL TUBULAR DAMAGE(HP:0000806), MACROCEPHALY(HP:0000256), WIDE ANTERIOR FONTANEL(HP:0000260), RENAL CORTICAL CYSTS(HP:0000803), NEONATAL DEATH FREQUENT(HP:0003820), CONGENITAL CATARACT(HP:0000519), ETHYLMALONIC ACIDURIA(HP:0003219), ABNORMALITY OF THE GENITAL TRACT(HP:0000078), HIGH FOREHEAD(HP:0000348), PACHYGYRIA(HP:0001302), FATTY INFILTRATION OF LIVER(HP:0002252), HEPATOMEGALY(HP:0002240), DEFECTIVE DEHYDROGENATION OF ISOVALERYL COA AND BUTYRYL COA(HP:0003490), ABNORMAL FORM OF EARS(HP:0000377), MUSCLE WEAKNESS(HP:0001324), HYPOGLYCEMIC COMA(HP:0001325), POLYCYSTIC KIDNEY(HP:0000113), HEPATIC PERIPORTAL NECROSIS(HP:0002614), JAUNDICE(HP:0000952), GLUTARIC ACIDURIA(HP:0003150), NAUSEA(HP:0002018), RESPIRATORY DISTRESS(HP:0002098), MUSCULAR HYPOTONIA(HP:0001252), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), PULMONARY HYPOPLASIA(HP:0002089), FACIAL DYSMORPHISM(HP:0001999), ELECTRON TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE DEFECT(HP:0003647), GLYCOSURIA(HP:0003076), HYPOGLYCEMIA(HP:0001943), ACIDOSIS(HP:0001941), TELECANTHUS(HP:0000506), GLIOSIS(HP:0002171), GENERALIZED AMINOACIDURIA(HP:0002909)]
2115	ETV1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
2120	ETV6	[ACUTE MYELOID LEUKEMIA(HP:0004808), FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
2121	EVC	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRYPTORCHIDISM(HP:0000028), EPISPADIAS(HP:0000039), HYPOSPADIAS(HP:0000047), NARROW CHEST(HP:0000774), SHORT RIBS(HP:0000773), PECTUS CARINATUM(HP:0000768), ATRIAL SEPTAL DEFECT(HP:0001631), DANDY-WALKER MALFORMATION(HP:0001305), SINGLE CENTRAL INCISOR(HP:0001573), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), POSTAXIAL POLYDACTYLY FINGERS/TOES(HP:0004698), SHORT-LIMB DWARFISM IDENTIFIABLE AT BIRTH(HP:0001536), MILD SHORT STATURE(HP:0003502), HYPOTELORISM(HP:0000601), IRREGULAR, SMALL, OR ABSENT INCISORS(HP:0006340), RENAL TUBULAR DYSFUNCTION(HP:0000124), NAIL HYPOPLASIA(HP:0001792), TALIPES EQUINOVARUS(HP:0001762), DELAYED DENTITION(HP:0000684), GENU VALGUM(HP:0002857), PROMINENT ANTIHELIX(HP:0000395), CONICAL TEETH(HP:0000698), NEONATAL TEETH(HP:0000695), CAPITATE-HAMATE FUSION(HP:0001241), MENTAL RETARDATION(HP:0001249), HYPODONTIA(HP:0000668), SHORT, THICKENED TUBULAR BONES(HP:0005029), CLEFT LIP(HP:0000204), CONE-SHAPED EPIPHYSES OF PHALANGES 2 TO 5(HP:0006035), SMALL HANDS(HP:0001165), NAIL DYSPLASIA(HP:0002164), ABNORMALITY OF THE PELVIS(HP:0002644), MILD BRACHYDACTYLY(HP:0001189), ABNORMALITY OF THE ALVEOLAR RIDGES(HP:0006477)]
2130	EWSR1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PERIPHERAL NEUROEPITHELIOMA(HP:0006717)]
2131	EXT1	[PERIPHERAL NERVE COMPRESSION(HP:0003406), ABNORMALITY OF THE FEET(HP:0001760), COXA VARA(HP:0002812), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SCAPULAR EXOSTOSES(HP:0000918), DECREASED BODY HEIGHT(HP:0004322), CERVICAL MYELOPATHY(HP:0002318), GENU VALGUM(HP:0002857), MADELUNG-LIKE FOREARM DEFORMITIES(HP:0003068), ONSET IN EARLY CHILDHOOD(HP:0003580), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), PELVIC EXOSTOSES(HP:0003276), PROTUBERANCES AT ENDS OF LONG BONES(HP:0003105), INCREASED RISK OF CHONDROSARCOMA(HP:0006765), RIB EXOSTOSES(HP:0000896)]
2132	EXT2	[PERIPHERAL NERVE COMPRESSION(HP:0003406), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CERVICAL MYELOPATHY(HP:0002318), GENU VALGUM(HP:0002857), PELVIC EXOSTOSES(HP:0003276), SCAPULAR EXOSTOSES(HP:0000918), ONSET IN EARLY CHILDHOOD(HP:0003580), RIB EXOSTOSES(HP:0000896), COXA VARA(HP:0002812), DECREASED BODY HEIGHT(HP:0004322), MADELUNG-LIKE FOREARM DEFORMITIES(HP:0003068), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), PROTUBERANCES AT ENDS OF LONG BONES(HP:0003105), INCREASED RISK OF CHONDROSARCOMA(HP:0006765)]
2138	EYA1	[MIXED HEARING LOSS(HP:0000410), CONGENITAL HIP DISLOCATION(HP:0001374), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VARIABLE EXPRESSIVITY(HP:0003828), LONG FACE(HP:0000276), INCOMPLETE PENETRANCE(HP:0003829), STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402), ABNORMALITY OF THE RENAL COLLECTING SYSTEM(HP:0004742), SCAPULAR WINGING(HP:0003691), MICROTIA(HP:0000393), HIGH-ARCHED PALATE(HP:0000156), PREAURICULAR SKIN TAG(HP:0000384), ABNORMALITY OF THE CEREBRUM(HP:0002060), MICRODONTIA(HP:0000691), CLEFT PALATE(HP:0000175), LACRIMAL DUCT APLASIA OR STENOSIS(HP:0007925), FATTY KIDNEYS(HP:0000799), MENTAL RETARDATION, MILD(HP:0001256), LONG, NARROW FACIES(HP:0000318), INTESTINAL MALROTATION(HP:0002566), MILD MANDIBULAR PROGNATHISM(HP:0004656), HETEROGENEOUS(HP:0001425), LONG NECK(HP:0000472), PREAURICULAR SINUS(HP:0004467), VESICOURETERAL REFLUX(HP:0000076), BIFID UVULA(HP:0000193), FACIAL MUSCLE WEAKNESS(HP:0010628), NARROW NOSE(HP:0000460), CRANIAL NERVE VII PALSY(HP:0007212), LACRIMATION ABNORMALITY(HP:0000632), BULBOUS INTERNAL AUDITORY CANAL(HP:0004458), BRANCHIAL FISTULA(HP:0009795), MALROTATION OF THE KIDNEY(HP:0004712), EUTHYROID GOITER(HP:0009798), MONDINI MALFORMATION(HP:0000376), BRANCHIAL CYST(HP:0009796), CHOLESTEATOMA(HP:0009797), CUP-SHAPED EARS(HP:0000378), RENAL DYSPLASIA/APLASIA(HP:0004721), HYPOPLASTIC PINNAE(HP:0008621), POLYCYSTIC KIDNEY(HP:0000113), SLOPING SHOULDERS(HP:0001556)]
2147	F2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BLEEDING DIATHESIS(HP:0001892)]
2153	F5	[PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACTOR V DEFICIENCY(HP:0003225), MENORRHAGIA(HP:0000132), WHOLE-BLOOD CLOTTING TIME PROLONGED(HP:0005542), BLEEDING DIATHESIS(HP:0001892), PROLONGED BLEEDING TIME(HP:0003010), EPISTAXIS(HP:0000421)]
2155	F7	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACTOR VII DEFICIENCY(HP:0008169), BLEEDING DIATHESIS(HP:0001892)]
2157	F8	[PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), ECCHYMOSES(HP:0000978), FACTOR VIII DEFICIENCY(HP:0003125), HEMARTHROSES(HP:0001391), X-LINKED RECESSIVE INHERITANCE(HP:0001419), PERSISTENT BLEEDING AFTER TRAUMA(HP:0001934), BLEEDING DIATHESIS(HP:0001892), DEGENERATIVE JOINT DISEASE(HP:0001379)]
2158	F9	[PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), GASTROINTESTINAL HEMORRHAGE(HP:0002239), ABNORMALITY OF THE SKIN(HP:0000951), PROLONGED WHOLE-BLOOD CLOTTING TIME IN SEVERE HEMOPHILIA(HP:0003229), HEMARTHROSES(HP:0001391), X-LINKED RECESSIVE INHERITANCE(HP:0001419), PERSISTENT BLEEDING AFTER TRAUMA(HP:0001934), BLEEDING DIATHESIS(HP:0001892), DEGENERATIVE JOINT DISEASE(HP:0001379)]
2159	F10	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACTOR X DEFICIENCY(HP:0008321), MENORRHAGIA(HP:0000132), PROLONGED PROTHROMBIN AND PARTIAL THROMBOPLASTIN TIMES(HP:0008151), BLEEDING DIATHESIS(HP:0001892), ABNORMALITY OF MUSCULATURE(HP:0003011), INTRACRANIAL HEMORRHAGE(HP:0002170), GINGIVAL BLEEDING(HP:0000225), HEMARTHROSES(HP:0001391), EPISTAXIS(HP:0000421)]
2160	F11	[ABNORMAL PROTHROMBIN CONSUMPTION(HP:0003337), SEVERE PROTRACTED BLEEDING AFTER SURGERY(HP:0004846), SPONTANEOUS, RECURRENT EPISTAXIS(HP:0004406), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ECCHYMOSES(HP:0000978)]
2161	F12	[PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), FACTOR XII DEFICIENCY(HP:0004841), WHOLE-BLOOD CLOTTING TIME PROLONGED(HP:0005542), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
2162	F13A1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BLEEDING DIATHESIS(HP:0001892), ECCHYMOSES(HP:0000978), OLIGOSPERMIA(HP:0000798), INTRACRANIAL HEMORRHAGE(HP:0002170), HEMARTHROSES(HP:0001391), DECREASED TESTICULAR SIZE(HP:0008734), EPISTAXIS(HP:0000421), ONSET AT BIRTH(HP:0003577)]
2165	F13B	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BLEEDING DIATHESIS(HP:0001892)]
2175	FANCA	[LEUKEMIA(HP:0001909), RETICULOCYTOPENIA(HP:0001896), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), BLEEDING DIATHESIS(HP:0001892), APLASIA OF THE THUMB(HP:0009777), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), HYPOPLASTIC/SMALL THUMB(HP:0009778), NEUTROPENIA(HP:0001875), PANCYTOPENIA(HP:0001876), KIDNEY MALFORMATION(HP:0000792), CHROMOSOMAL BREAKAGE INDUCED BY DIEPOXYBUTANE (DEB), AND MITOMYCIN C(HP:0003221), HORSESHOE KIDNEY(HP:0000085), ECTOPIC KIDNEY(HP:0000086), DUPLICATED COLLECTING SYSTEM(HP:0000081), DEFICIENT EXCISION OF UV-INDUCED PYRIMIDINE DIMERS IN DNA(HP:0003213), PROLONGED G2 PHASE OF CELL CYCLE(HP:0003214), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), RENAL AGENESIS(HP:0000104), CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTATION(HP:0000953), DEAFNESS(HP:0000404), MENTAL RETARDATION(HP:0001249), CARDIAC MALFORMATION(HP:0002564), LOW BIRTH WEIGHT(HP:0001518), ANEMIC PALLOR(HP:0001017), MULTIPLE CHROMOSOMAL BREAKS(HP:0002915), DECREASED BODY HEIGHT(HP:0004322), ECCHYMOSES(HP:0000978), MICROCEPHALY(HP:0000252), COMPLETE DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009943), STRABISMUS(HP:0000486)]
2176	FANCC	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), RETICULOCYTOPENIA(HP:0001896), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), BLEEDING DIATHESIS(HP:0001892), APLASIA OF THE THUMB(HP:0009777), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), HYPOPLASTIC/SMALL THUMB(HP:0009778), NEUTROPENIA(HP:0001875), PANCYTOPENIA(HP:0001876), KIDNEY MALFORMATION(HP:0000792), CHROMOSOMAL BREAKAGE INDUCED BY DIEPOXYBUTANE (DEB), AND MITOMYCIN C(HP:0003221), HORSESHOE KIDNEY(HP:0000085), ECTOPIC KIDNEY(HP:0000086), DUPLICATED COLLECTING SYSTEM(HP:0000081), DEFICIENT EXCISION OF UV-INDUCED PYRIMIDINE DIMERS IN DNA(HP:0003213), PROLONGED G2 PHASE OF CELL CYCLE(HP:0003214), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), RENAL AGENESIS(HP:0000104), CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTATION(HP:0000953), DEAFNESS(HP:0000404), MENTAL RETARDATION(HP:0001249), CARDIAC MALFORMATION(HP:0002564), LOW BIRTH WEIGHT(HP:0001518), ANEMIC PALLOR(HP:0001017), MULTIPLE CHROMOSOMAL BREAKS(HP:0002915), DECREASED BODY HEIGHT(HP:0004322), ECCHYMOSES(HP:0000978), MICROCEPHALY(HP:0000252), COMPLETE DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009943), STRABISMUS(HP:0000486)]
2177	FANCD2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), RETICULOCYTOPENIA(HP:0001896), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), BLEEDING DIATHESIS(HP:0001892), APLASIA OF THE THUMB(HP:0009777), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), HYPOPLASTIC/SMALL THUMB(HP:0009778), NEUTROPENIA(HP:0001875), PANCYTOPENIA(HP:0001876), KIDNEY MALFORMATION(HP:0000792), CHROMOSOMAL BREAKAGE INDUCED BY DIEPOXYBUTANE (DEB), AND MITOMYCIN C(HP:0003221), HORSESHOE KIDNEY(HP:0000085), ECTOPIC KIDNEY(HP:0000086), DUPLICATED COLLECTING SYSTEM(HP:0000081), DEFICIENT EXCISION OF UV-INDUCED PYRIMIDINE DIMERS IN DNA(HP:0003213), PROLONGED G2 PHASE OF CELL CYCLE(HP:0003214), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), RENAL AGENESIS(HP:0000104), CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTATION(HP:0000953), DEAFNESS(HP:0000404), MENTAL RETARDATION(HP:0001249), CARDIAC MALFORMATION(HP:0002564), LOW BIRTH WEIGHT(HP:0001518), ANEMIC PALLOR(HP:0001017), MULTIPLE CHROMOSOMAL BREAKS(HP:0002915), DECREASED BODY HEIGHT(HP:0004322), ECCHYMOSES(HP:0000978), MICROCEPHALY(HP:0000252), COMPLETE DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009943), STRABISMUS(HP:0000486)]
2178	FANCE	[LEUKEMIA(HP:0001909), RETICULOCYTOPENIA(HP:0001896), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), BLEEDING DIATHESIS(HP:0001892), APLASIA OF THE THUMB(HP:0009777), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), HYPOPLASTIC/SMALL THUMB(HP:0009778), NEUTROPENIA(HP:0001875), PANCYTOPENIA(HP:0001876), KIDNEY MALFORMATION(HP:0000792), CHROMOSOMAL BREAKAGE INDUCED BY DIEPOXYBUTANE (DEB), AND MITOMYCIN C(HP:0003221), HORSESHOE KIDNEY(HP:0000085), ECTOPIC KIDNEY(HP:0000086), DUPLICATED COLLECTING SYSTEM(HP:0000081), DEFICIENT EXCISION OF UV-INDUCED PYRIMIDINE DIMERS IN DNA(HP:0003213), PROLONGED G2 PHASE OF CELL CYCLE(HP:0003214), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), RENAL AGENESIS(HP:0000104), CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTATION(HP:0000953), DEAFNESS(HP:0000404), MENTAL RETARDATION(HP:0001249), CARDIAC MALFORMATION(HP:0002564), LOW BIRTH WEIGHT(HP:0001518), ANEMIC PALLOR(HP:0001017), MULTIPLE CHROMOSOMAL BREAKS(HP:0002915), DECREASED BODY HEIGHT(HP:0004322), ECCHYMOSES(HP:0000978), MICROCEPHALY(HP:0000252), COMPLETE DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009943), STRABISMUS(HP:0000486)]
2184	FAH	[RICKETS(HP:0002748), ELEVATED URINARY DELTA-AMINOLEVULINIC ACID(HP:0003163), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), BLEEDING DIATHESIS(HP:0001892), EPISODIC PERIPHERAL NEUROPATHY(HP:0006949), HYPOPHOSPHATEMIC RICKETS(HP:0004912), GASTROINTESTINAL HEMORRHAGE(HP:0002239), HEPATOCELLULAR CARCINOMA(HP:0001402), PARALYTIC ILEUS(HP:0002590), CIRRHOSIS(HP:0001394), SPLENOMEGALY(HP:0001744), ACUTE HEPATIC FAILURE(HP:0006554), FAILURE TO THRIVE(HP:0001508), RENAL FANCONI SYNDROME(HP:0001994), PANCREATIC ISLET-CELL HYPERTROPHY(HP:0006275), PERIODIC PARALYSIS(HP:0003768), TYROSINEMIA(HP:0003231), RENAL FAILURE(HP:0000083), ELEVATED ALPHA-FETOPROTEIN(HP:0006254), HEPATOMEGALY(HP:0002240), HYPOGLYCEMIA(HP:0001943), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), GLOMERULOSCLEROSIS(HP:0000096), ABNORMALITY OF MUSCULATURE(HP:0003011), ASCITES(HP:0001541), HYPERMETHIONINEMIA(HP:0003235), ELEVATED TRANSAMINASES(HP:0002910), NEPHROCALCINOSIS(HP:0000121)]
2192	FBLN1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TOE SYNDACTYLY(HP:0001770), POLYDACTYLY(HP:0010442), METATARSAL SYNOSTOSIS(HP:0008098), SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702), SYNOSTOSIS INVOLVING THE METACARPAL BONES(HP:0009701), SYNOSTOSIS INVOLVING TARSAL BONES(HP:0008368)]
2200	FBN1	[PULMONIC STENOSIS(HP:0001642), KYPHOSCOLIOSIS(HP:0002751), PATENT DUCTUS ARTERIOSUS(HP:0001643), BROAD PHALANGES OF THE HAND(HP:0009768), MEDIAL ROTATION OF THE MEDIAL MALLEOLUS(HP:0008132), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MITRAL VALVE PROLAPSE(HP:0001634), CONGESTIVE HEART FAILURE(HP:0001635), AORTIC INSUFFICIENCY(HP:0001659), EARLY CATARACTS(HP:0001113), INGUINAL HERNIA(HP:0000023), HYPOPLASIA OF THE IRIS(HP:0007676), AORTIC STENOSIS(HP:0001650), CRYPTORCHIDISM(HP:0000028), SEVERE MYOPIA (> -6.00 DIOPTERS)(HP:0000569), MITRAL REGURGITATION(HP:0001653), RECURRENT OR INCISIONAL HERNIA(HP:0004872), PULMONARY ARTERY DILATATION(HP:0004927), PROPTOSIS(HP:0000520), SMALL SHALLOW ORBITS(HP:0002706), SPONDYLOLISTHESIS(HP:0003302), ISOLATED ECTOPIA LENTIS(HP:0007637), VENTRICULAR SEPTAL DEFECT(HP:0001629), ARNOLD-CHIARI TYPE I MALFORMATION(HP:0007099), DETACHED RETINA(HP:0000541), BLINDNESS(HP:0000618), OVERGROWTH(HP:0001548), STRIAE DISTENSAE(HP:0001065), UMBILICAL HERNIA(HP:0001537), MINIMAL SUBCUTANEOUS FAT(HP:0003717), SHALLOW ANTERIOR CHAMBER(HP:0000594), THIN BONY CORTEX(HP:0002753), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), PES CAVUS(HP:0001761), HAMMER TOES(HP:0001765), DENTAL OVERCROWDING(HP:0000678), BROAD METACARPALS(HP:0001230), AORTIC ROOT DILATATION(HP:0002616), HIGH-ARCHED PALATE(HP:0000156), BROAD METATARSALS(HP:0001783), MISSHAPEN TEETH(HP:0000697), MALALIGNED TEETH(HP:0000693), DENTAL MALOCCLUSION(HP:0000689), DECREASED MUSCLE MASS(HP:0003199), EMPHYSEMA(HP:0002097), MUSCULAR HYPOTONIA(HP:0001252), PNEUMOTHORAX(HP:0002107), EXOPHTHALMOS(HP:0000645), DEVELOPMENTAL RETARDATION(HP:0001263), MENTAL RETARDATION, MILD(HP:0001256), C1-C2 VERTEBRAL ABNORMALITY(HP:0008440), PROTRUSIO ACETABULI(HP:0003179), ENOPHTHALMOS(HP:0000663), BRACHYDACTYLY(HP:0001156), PREMATURE OSTEOARTHRITIS(HP:0003088), BROAD SKULL(HP:0002682), TRICUSPID VALVE PROLAPSE(HP:0001704), ARACHNODACTYLY(HP:0001166), BROAD HANDS(HP:0001169), DISLOCATED RADIAL HEAD(HP:0003083), PECTUS EXCAVATUM(HP:0000767), MICROGNATHIA(HP:0000210), HYDROCEPHALUS(HP:0000238), AORTIC DISSECTION(HP:0002647), MICROCEPHALY(HP:0000252), BRACHYCEPHALY(HP:0000248), ASCENDING AORTIC ANEURYSM(HP:0002631), MALAR HYPOPLASIA(HP:0000272), JOINT CONTRACTURES(HP:0001372), RETROGNATHIA(HP:0000278), CRANIOSYNOSTOSIS(HP:0001363), BOWING OF THE LEGS(HP:0002979), WIDE ANTERIOR FONTANEL(HP:0000260), CONGENITAL LENS DISLOCATION(HP:0007882), DOLICHOCEPHALY(HP:0000268), SKIN HYPERELASTICITY(HP:0007389), HYPERTELORISM(HP:0000316), LONG, NARROW FACIES(HP:0000318), JOINT LAXITY(HP:0001388), GENU VARUM(HP:0002970), PECTUS CARINATUM(HP:0000768), JOINT STIFFNESS(HP:0001387), DECREASED MOBILITY OF JOINTS(HP:0001376), THIN RIBS(HP:0000883), BROAD RIBS(HP:0000885), GENU VARUS(HP:0003052), ABDOMINAL WALL MUSCLE WEAKNESS(HP:0009023), METATARSUS VARUS(HP:0001840), HOOKED CLAVICLES(HP:0000895), HYPOPLASIA OF THE MAXILLA(HP:0000327), METAPHYSEAL WIDENING(HP:0003016), LOW-SET, POSTERIORLY ROTATED EARS(HP:0000368), SHORT STATURE, PROPORTIONATE(HP:0003499), ABNORMAL FORM OF EARS(HP:0000377), PREMATURE CALCIFICATION OF MITRAL ANNULUS(HP:0005136), ADULT FEMALE HEIGHT 130-157 CM(HP:0003512), ADULT MALE HEIGHT 142-169 CM(HP:0003518), NEUROPATHY(HP:0003407), CAMPTODACTYLY (HANDS)(HP:0010563), GENU VALGUM(HP:0002857), HEARING LOSS, CONDUCTIVE(HP:0000405), OBSTRUCTIVE SLEEP APNEA(HP:0002870), GASTROESOPHAGEAL REFLUX(HP:0002020), SPINAL CANAL STENOSIS(HP:0003416), OSTEOPENIA(HP:0000938), FEEDING DIFFICULTIES(HP:0002022), INCREASED AXIAL GLOBE LENGTH(HP:0007800), FRONTAL BOSSING(HP:0002007), GENU RECURVATUM(HP:0002816), FLATTENED NASAL BRIDGE(HP:0000425), UPTURNED NOSE(HP:0000427), DOLICHOSTENOMELIA(HP:0001519), DECREASED SUBCUTANEOUS FAT(HP:0001002), LIPODYSTROPHY(HP:0009125), LUMBAR HYPERLORDOSIS(HP:0002938), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), TELECANTHUS(HP:0000506), GLAUCOMA(HP:0000501), SUPERNUMERARY RIBS(HP:0005815), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
2201	FBN2	[PATENT DUCTUS ARTERIOSUS(HP:0001643), BICUSPID AORTIC VALVE(HP:0001647), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ELBOW CONTRACTURES(HP:0002987), MYOPIA(HP:0000545), MITRAL VALVE PROLAPSE(HP:0001634), KNEE CONTRACTURES(HP:0002978), SCAPHOCEPHALY(HP:0000258), KERATOCONUS(HP:0000563), DISLOCATION OF PATELLA(HP:0002999), HIP CONTRACTURES(HP:0003273), MITRAL REGURGITATION(HP:0001653), DOLICHOCEPHALY(HP:0000268), POORLY FORMED PINNAE(HP:0008562), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), PECTUS CARINATUM(HP:0000768), IRIS COLOBOMA(HP:0000612), METATARSUS VARUS(HP:0001840), CONGENITAL KYPHOSCOLIOSIS(HP:0008453), ECTOPIA LENTIS(HP:0001083), HYPOPLASTIC CALF MUSCLES(HP:0008962), TALIPES EQUINOVARUS(HP:0001762), CRUMPLED EAR HELICES(HP:0009901), AORTIC ROOT DILATATION(HP:0002616), HIGH-ARCHED PALATE(HP:0000156), OSTEOPENIA(HP:0000938), FRONTAL BOSSING(HP:0002007), MOTOR RETARDATION(HP:0001270), DOLICHOSTENOMELIA(HP:0001519), PATELLAR SUBLUXATION(HP:0010499), SHORT NECK(HP:0000470), ARACHNODACTYLY(HP:0001166), ADDUCTED THUMBS(HP:0001181), MICROGNATHIA(HP:0000210), CONTRACTURES OF THE PROXIMAL INTERPHALANGEAL JOINTS OF THE FINGERS(HP:0009698), BRACHYCEPHALY(HP:0000248), ULNAR DEVIATION OF FINGERS(HP:0009465)]
2202	EFEMP1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HONEYCOMB RETINAL DEGENERATION(HP:0007937)]
2203	FBP1	[HYPOKINESIA(HP:0002375), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IRRITABILITY(HP:0000737), TACHYCARDIA(HP:0001649), HEPATOMEGALY(HP:0002240), METABOLIC ACIDOSIS(HP:0001942), HYPERVENTILATION(HP:0002883), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), APNEA(HP:0002104), COMA(HP:0001259), KETOSIS(HP:0001946), FEVER(HP:0001945), DYSPNEA(HP:0002094)]
2218	FKTN	[DILATED CARDIOMYOPATHY(HP:0001644), EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL MALFORMATION(HP:0007901), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), MICROTIA(HP:0000393), MENTAL RETARDATION, PROFOUND(HP:0002187), EXCESSIVE DAYTIME SLEEPINESS(HP:0002189), ANAL ATRESIA(HP:0002023), MICROPHTHALMOS(HP:0000568), TYPE II LISSENCEPHALY(HP:0007260), CATARACT(HP:0000518), MUSCULAR HYPOTONIA(HP:0001252), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), MOTOR RETARDATION(HP:0001270), OCCIPITAL ENCEPHALOCELE(HP:0002085), HYPOREFLEXIA(HP:0001265), DETACHED RETINA(HP:0000541), PROXIMAL MUSCLE WEAKNESS, MILD(HP:0009033), AGENESIS OF CORPUS CALLOSUM(HP:0001274), ONSET IN INFANCY(HP:0003576), PETERS ANOMALY(HP:0000659), CLEFT LIP(HP:0000204), DANDY-WALKER MALFORMATION(HP:0001305), OPTIC NERVE HYPOPLASIA(HP:0000609), PYRAMIDAL TRACT HYPOPLASIA(HP:0007348), CONGENITAL CONTRACTURES(HP:0002803), ABNORMALITY OF THE GENITAL TRACT(HP:0000078), PACHYGYRIA(HP:0001302), ANTERIOR CHAMBER MALFORMATION(HP:0007699), VENTRICULOMEGALY(HP:0002119), PECTUS EXCAVATUM(HP:0000767), POLYMICROGYRIA(HP:0002126), INCREASED CREATINE KINASE(HP:0003078), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), RETINAL DYSPLASIA(HP:0007973), RENAL DYSPLASIA(HP:0000110), GLAUCOMA(HP:0000501), CONGENITAL MUSCULAR DYSTROPHY(HP:0003741), COLOBOMA(HP:0000589), MYOCARDIAL FIBROSIS(HP:0001685), THICK CEREBRAL CORTEX(HP:0006891), MICROCEPHALY(HP:0000252), MENINGOENCEPHALOCELE(HP:0006888), MUSCLE HYPERTROPHY(HP:0003712), INCREASED SERUM CREATINE KINASE(HP:0002147), GOWER SIGN(HP:0003391), MEGALOCORNEA(HP:0000485)]
2235	FECH	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD HYPERTRIGLYCERIDEMIA(HP:0008332), PRURITUS(HP:0000989), ERYTHEMA(HP:0010783), HEPATIC FAILURE(HP:0001399), ONSET BEFORE AGE 2 YEARS(HP:0003667), HEMOLYTIC ANEMIA(HP:0001878), EDEMA(HP:0000969), CHOLELITHIASIS(HP:0001081), ECZEMA(HP:0000964)]
2242	FES	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ACUTE PROMYELOCYTIC LEUKEMIA(HP:0004836)]
2243	FGA	[GENERALIZED AMYLOID DEPOSITION(HP:0003216), HEMATURIA(HP:0000790), NEPHROTIC SYNDROME(HP:0000100), HYPERTENSION(HP:0000822), SKIN RASH(HP:0000988), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CHOLESTASIS(HP:0001396), NEUROLOGICAL ABNORMALITY(HP:0000707), SPLENOMEGALY(HP:0001744), EDEMA(HP:0000969), NEPHROPATHY(HP:0000112), PROTEINURIA(HP:0000093), BLEEDING DIATHESIS(HP:0001892), HEPATOMEGALY(HP:0002240)]
2244	FGB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438), BLEEDING DIATHESIS(HP:0001892)]
2245	FGD1	[DELAYED PUBERTY(HP:0000823), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), CERVICAL SPINE HYPERMOBILITY(HP:0003318), ROUND FACE(HP:0000311), HYPERTELORISM(HP:0000316), WIDE PHILTRUM(HP:0000289), SHAWL SCROTUM(HP:0000049), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), HYPERMETROPIA(HP:0000540), FLESHY EARLOBES(HP:0009748), WIDOW'S PEAK(HP:0000349), HYPOPLASIA OF THE MAXILLA(HP:0000327), PROMINENT UMBILICUS(HP:0001544), MILD TO MODERATE SHORT STATURE(HP:0003503), TRANSVERSE PALMAR CREASES(HP:0000954), SHORT, BROAD FEET(HP:0001773), CURVED LINEAR DIMPLE BELOW THE LOWER LIP(HP:0002055), INCREASED UPPER TO LOWER SEGMENT RATIO(HP:0008904), CLEFT PALATE(HP:0000175), MENTAL RETARDATION(HP:0001249), SMALL, SHORT NOSE(HP:0003192), HYPODONTIA(HP:0000668), FAILURE TO THRIVE(HP:0001508), BROAD NASAL BRIDGE(HP:0000431), FINGER JOINT HYPEREXTENSIBILITY(HP:0006158), CLEFT LIP(HP:0000204), CLINODACTYLY OF HANDS(HP:0001157), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), SHORT NECK(HP:0000470), NARES, ANTEVERTED(HP:0000463), PECTUS EXCAVATUM(HP:0000767), SHORT BROAD HANDS(HP:0001174), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPERACTIVITY(HP:0000752), PTOSIS(HP:0000508), SCOLIOSIS(HP:0002650), ATTENTION DEFICIT HYPERACTIVITY DISORDER(HP:0007018), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
2248	FGF3	[WIDELY SPACED TEETH(HP:0000687), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), LONG FACE(HP:0000276), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), DEAFNESS(HP:0000404), MICROTIA(HP:0000393), CONICAL TEETH(HP:0000698), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), MICRODONTIA(HP:0000691), SKIN TAGS(HP:0010609), MICROGNATHIA(HP:0000210)]
2255	FGF10	[MIXED HEARING LOSS(HP:0000410), BILATERAL DIGITALIZED THUMBS(HP:0005707), APLASTIC/HYPOPLASTIC LACRIMAL PUNCTA(HP:0007892), SIMPLE, CUP-SHAPED EARS(HP:0008531), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680), LACRIMAL GLAND APLASIA/HYPOPLASIA(HP:0007656), PEG-SHAPED INCISORS(HP:0000673), 2-3 FINGER SYNDACTYLY(HP:0001233), CLINODACTYLY, 3,5 FINGER(HP:0006181), THENAR HYPOPLASIA(HP:0001245), SHORT ULNA(HP:0002998), SHORT RADIUS(HP:0002995), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), APLASIA OF THE PAROTID GLAND(HP:0009740), NEPHROSCLEROSIS(HP:0009741), HYPERTELORISM(HP:0000316), ALACRIMA(HP:0000522), HYPODONTIA(HP:0000668), CARIOUS TEETH(HP:0000670), APLASIA OF THE PROXIMAL PHALANX OF THE THUMB(HP:0009637), CORONAL HYPOSPADIAS(HP:0008743), BROAD FOREHEAD(HP:0000337), ABSENCE OF STENSEN DUCT(HP:0000198), DACROCYSTITIS(HP:0000620), XEROSTOMIA(HP:0000217), PERIORBITAL FULLNESS(HP:0000629), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579), TELECANTHUS(HP:0000506), RENAL AGENESIS(HP:0000104), RECURRENT CORNEAL EROSIONS(HP:0000495), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), HYPEREXTENSIBLE SKIN(HP:0000974), PARTIAL DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009944), BROAD HALLUX(HP:0010055)]
2259	FGF14	[PES CAVUS(HP:0001761), GAIT ATAXIA(HP:0002066), OROFACIAL DYSKINESIA(HP:0002310), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LIMB ATAXIA(HP:0002070), TRUNCAL ATAXIA(HP:0002078), ABNORMALITY OF THE FACE(HP:0000271), CEREBELLAR ATAXIA(HP:0001253), SLOW PROGRESSION(HP:0003677), HEAD TREMOR(HP:0002346), DYSARTHRIA(HP:0001260), DYSMETRIC SACCADES(HP:0000641), GAZE-EVOKED NYSTAGMUS(HP:0000640), MENTAL RETARDATION, MILD(HP:0001256), MEMORY LOSS(HP:0002081), CEREBELLAR ATROPHY(HP:0001272), HETEROGENEOUS(HP:0001425), BLINDNESS(HP:0000618), ABNORMALITY OF OCULAR SMOOTH PURSUIT(HP:0000617), DEPRESSION(HP:0000716), SENSORY AXONAL NEUROPATHY, MILD(HP:0006883), STRABISMUS(HP:0000486)]
2260	FGFR1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), NARROW PELVIS(HP:0003275), ENLARGED PENIS(HP:0000040), CHORDEE(HP:0000041), PROPTOSIS(HP:0000520), HYPOSPADIAS(HP:0000047), ATRIAL SEPTAL DEFECT(HP:0001631), HYPOPLASTIC LABIA MAJORA(HP:0000059), FUSED LABIA MINORA(HP:0000063), OCCASIONAL CLOVER-LEAF SKULL(HP:0004477), SPORADIC(HP:0003745), MECKEL DIVERTICULUM(HP:0002245), ISOLATED HYPOGONADOTROPIC HYPOGONADISM(HP:0008224), BRONCHOMALACIA(HP:0002780), UPPER AIRWAY OBSTRUCTION(HP:0002781), SHALLOW ORBITS(HP:0000586), CRANIOSYNOSTOSIS, CORONAL AND LAMBDOIDAL(HP:0004441), OMPHALOCELE(HP:0001539), HYPOTELORISM(HP:0000601), DECREASED TESTICULAR SIZE(HP:0008734), TARSONAVICULAR AND CALCANEONAVICULAR FUSION(HP:0008122), DENTAL OVERCROWDING(HP:0000678), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), RESPIRATORY DISTRESS(HP:0002098), SMALL NOSE WITH LOW NASAL BRIDGE(HP:0004506), NASAL HYPOPLASIA(HP:0003196), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), SYNOPHRYS(HP:0000664), LUMBAR HEMIVERTEBRAE(HP:0008439), ARACHNODACTYLY(HP:0001166), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), SPEECH DELAY(HP:0002117), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), SHORT BROAD HANDS(HP:0001174), SHORT, WIDE PHALANGES(HP:0006030), HYDROCEPHALUS(HP:0000238), SHORT, BROAD METACARPALS(HP:0006065), UNERUPTED TEETH(HP:0000706), MICROCEPHALY(HP:0000252), BRACHYTURRICEPHALY(HP:0000244), TRIGONOCEPHALY(HP:0000243), JOINT CONTRACTURES(HP:0001372), MALAR HYPOPLASIA(HP:0000272), RHIZOMELIC DWARFISM(HP:0003520), FEMORAL BOWING(HP:0002980), WIDE ANTERIOR FONTANEL(HP:0000260), PRIMARY AMENORRHEA(HP:0000786), HYPERTELORISM(HP:0000316), KIDNEY MALFORMATION(HP:0000792), NARROW CHEST(HP:0000774), SHORT, BROAD METATARSALS(HP:0001865), GENU VARUM(HP:0002970), MANDIBULAR PROGNATHIA(HP:0000303), LONG PHILTRUM(HP:0000343), GENU VARUS(HP:0003052), SHORT, BOWED LIMBS(HP:0003054), RADIOHUMERAL SYNOSTOSIS(HP:0003041), HYPOPLASIA OF THE MAXILLA(HP:0000327), 2-3 TOE SYNDACTYLY(HP:0004691), ELBOW ANKYLOSIS(HP:0003070), LOW-SET EARS(HP:0000369), MEDIALLY DEVIATED, BROAD GREAT TOES(HP:0004710), HYPOPLASTIC TOENAILS(HP:0001800), ULNAR BOWING(HP:0003031), CARTILAGINOUS TRACHEA(HP:0005347), ARNOLD-CHIARI MALFORMATION(HP:0002308), CAMPTODACTYLY (HANDS)(HP:0010563), STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402), HEARING LOSS, SENSORINEURAL(HP:0000407), DYSPLASTIC EARS(HP:0000398), PREAURICULAR SKIN TAG(HP:0000384), PLATYSPONDYLY(HP:0000926), BROAD PHALANGES OF THE THUMB(HP:0009651), FRONTAL BOSSING(HP:0002007), PSEUDOARTHROSIS(HP:0005864), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), SHORT SCAPULAE(HP:0000906), HETEROGENEOUS(HP:0001425), VARIABLE MENTAL RETARDATION(HP:0002382), SHORT NECK(HP:0000470), NARES, ANTEVERTED(HP:0000463), ANOSMIA(HP:0000458), CONGENITAL VERTICAL TALUS(HP:0010218), CHOANAL ATRESIA(HP:0000453), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), BRACHYMESOPHALANGY OF HANDS AND FEET(HP:0006239), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554), STRABISMUS(HP:0000486)]
2261	FGFR3	[SMALL FACE(HP:0000274), DEATH IN MAJORITY OF INFANTS SOON AFTER BIRTH(HP:0003824), BILATERAL DIGITALIZED THUMBS(HP:0005707), MALAR HYPOPLASIA(HP:0000272), SHORT-LIMB DWARFISM IDENTIFIABLE DURING CHILDHOOD(HP:0003523), APLASTIC/HYPOPLASTIC LACRIMAL PUNCTA(HP:0007892), SIMPLE, CUP-SHAPED EARS(HP:0008531), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BOWING OF THE LEGS(HP:0002979), SMALL ABNORMALLY FORMED SCAPULAE(HP:0006584), MILD FRONTAL BOSSING(HP:0001359), MENTAL RETARDATION, PROFOUND(HP:0002187), PLAGIOCEPHALY(HP:0001357), MEGALENCEPHALY(HP:0001355), SHORT ULNA(HP:0002998), SHORT RADIUS(HP:0002995), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), FORAMEN MAGNUM STENOSIS(HP:0005468), APLASIA OF THE PAROTID GLAND(HP:0009740), NEPHROSCLEROSIS(HP:0009741), SHORT MIDDLE PHALANGES (FEET)(HP:0003795), RESPIRATORY INSUFFICIENCY/FAILURE(HP:0006542), HYPERTELORISM(HP:0000316), ALACRIMA(HP:0000522), NARROW CHEST(HP:0000774), SHORT RIBS(HP:0000773), GENU VARUM(HP:0002970), RHIZOMELIC SHORTENING(HP:0002968), LOW FRONTAL HAIRLINE(HP:0000294), LIMITED ELBOW EXTENSION(HP:0001377), TRIDENT ABNORMALITY(HP:0004060), CORONAL HYPOSPADIAS(HP:0008743), GENU VARUS(HP:0003052), BROAD FOREHEAD(HP:0000337), DACROCYSTITIS(HP:0000620), CAMPTODACTYLY (FEET)(HP:0001836), PERIORBITAL FULLNESS(HP:0000629), NUMEROUS NEVI(HP:0001054), BRAIN STEM COMPRESSION(HP:0002512), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579), INCREASED BODY HEIGHT(HP:0000098), UPPER AIRWAY OBSTRUCTION(HP:0002781), SHORT-LIMB DWARFISM IDENTIFIABLE AT BIRTH(HP:0001536), RENAL AGENESIS(HP:0000104), CORONAL CRANIOSYNOSTOSIS(HP:0004440), GENERALIZED JOINT LAXITY(HP:0002761), LETHAL MICROMELIC DWARFISM(HP:0003506), SHORT FEMORAL NECK(HP:0003032), DISPROPORTIONATELY TALL VERTEBRAL BODIES(HP:0005693), POLYHYDRAMNIOS(HP:0001561), HETEROTOPIA(HP:0002282), DECREASED FETAL ACTIVITY(HP:0001559), BROAD HALLUX(HP:0010055), MIXED HEARING LOSS(HP:0000410), BROAD, THIMBLE-LIKE MIDDLE PHALANGES(HP:0006193), CAMPTODACTYLY (HANDS)(HP:0010563), DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680), BLADDER CARCINOMA(HP:0002862), FLARED IRREGULAR METAPHYSES(HP:0000945), PEG-SHAPED INCISORS(HP:0000673), LUMBAR KYPHOSIS IN INFANCY(HP:0008414), MARKED SHORTNESS AND BOWING OF LONG BONES(HP:0006452), HIGH-ARCHED PALATE(HP:0000156), 2-3 FINGER SYNDACTYLY(HP:0001233), CLINODACTYLY, 3,5 FINGER(HP:0006181), SHORT TUBULAR BONES WITH MILD METAPHYSEAL FLARE(HP:0005000), THENAR HYPOPLASIA(HP:0001245), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), CAPITATE-HAMATE FUSION(HP:0001241), DEVELOPMENTAL RETARDATION(HP:0001263), SMALL SACROILIAC NOTCHES(HP:0003185), APLASTIC/HYPOPLASTIC LACRIMAL GLANDS(HP:0008038), MOTOR RETARDATION(HP:0001270), HYPODONTIA(HP:0000668), WIDE-CUPPED COSTOCHONDRAL JUNCTIONS(HP:0000910), SPINAL STENOSIS(HP:0008446), CARIOUS TEETH(HP:0000670), BROAD FEMORAL METAPHYSES(HP:0006417), SHORT AND SMALL ILIAC BONES(HP:0003178), LOW NASAL BRIDGE(HP:0000428), APLASIA OF THE PROXIMAL PHALANX OF THE THUMB(HP:0009637), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), CLOVERLEAF SKULL(HP:0002676), CONGENITAL SPINAL STENOSIS DUE TO SHORT PEDICLES(HP:0004597), ABSENCE OF STENSEN DUCT(HP:0000198), LIMITED ELBOW AND HIP EXTENSION(HP:0003093), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), PECTUS EXCAVATUM(HP:0000767), XEROSTOMIA(HP:0000217), PIGMENTED NEVI(HP:0000995), LUMBAR HYPERLORDOSIS(HP:0002938), PTOSIS(HP:0000508), HYDROCEPHALUS(HP:0000238), TELECANTHUS(HP:0000506), SEVERE PLATYSPONDYLY(HP:0004565), RECURRENT OTITIS MEDIA IN INFANCY(HP:0008624), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), RECURRENT CORNEAL EROSIONS(HP:0000495), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), RECURRENT OTITIS MEDIA IN INFANCY AND CHILDHOOD(HP:0008622), HYPEREXTENSIBLE SKIN(HP:0000974), BRACHYCEPHALY(HP:0000248), PARTIAL DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009944)]
2263	FGFR2	[VARIABLE EXPRESSIVITY(HP:0003828), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BUPHTHALMOS(HP:0000557), CRYPTORCHIDISM(HP:0000028), NARROW PELVIS(HP:0003275), ABNORMALITY OF THE CERVICAL SPINE(HP:0003319), PROPTOSIS(HP:0000520), PLAGIOCEPHALY (ASYMMETRY OF ORBITS)(HP:0001121), CRANIOSYNOSTOSIS OF CORONAL, LAMBDOID, AND/OR METOPIC SUTURES(HP:0005457), BIFID SCROTUM(HP:0000048), PARIETAL FORAMINA(HP:0002697), VENTRICULAR SEPTAL DEFECT(HP:0001629), ARNOLD-CHIARI TYPE I MALFORMATION(HP:0007099), ATRIAL SEPTAL DEFECT(HP:0001631), HYPOPLASTIC LABIA MAJORA(HP:0000059), FUSED LABIA MINORA(HP:0000063), ANOMALOUS TRACHEAL CARTILAGE(HP:0004468), ABNORMALITY OF THE LACRIMAL DUCT(HP:0000614), BROAD DISTAL PHALANGES OF THE HAND(HP:0009836), OCCASIONAL CLOVER-LEAF SKULL(HP:0004477), LARGE, LATE-CLOSING FONTANELLE(HP:0004473), SPORADIC(HP:0003745), PREAURICULAR SKIN FURROWS(HP:0004450), CRANIOFACIAL DYSOSTOSIS(HP:0004439), BRONCHOMALACIA(HP:0002780), ANTERIORLY PLACED ANUS(HP:0001545), UPPER AIRWAY OBSTRUCTION(HP:0002781), SHALLOW ORBITS(HP:0000586), BROAD DISTAL HALLUX(HP:0008111), CRANIOSYNOSTOSIS, CORONAL AND LAMBDOIDAL(HP:0004441), HYDRONEPHROSIS(HP:0000126), PROMINENT SCROTAL RAPHE(HP:0003246), TARSONAVICULAR AND CALCANEONAVICULAR FUSION(HP:0008122), DELAYED DENTITION(HP:0000684), OVERRIDING AORTA(HP:0002623), DENTAL OVERCROWDING(HP:0000678), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), DENTAL MALOCCLUSION(HP:0000689), RESPIRATORY DISTRESS(HP:0002098), SMALL NOSE WITH LOW NASAL BRIDGE(HP:0004506), CHRONIC ATROPHIC GASTRITIS(HP:0002582), CLEFT PALATE(HP:0000175), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), FUSION OF CARPAL BONES(HP:0005048), DEVELOPMENTAL RETARDATION(HP:0001263), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), MODERATE TO SEVERE ACNE(HP:0005596), AGENESIS OF CORPUS CALLOSUM(HP:0001274), ACROBRACHYCEPHALY(HP:0004487), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), BIFID UVULA(HP:0000193), CRANIOSYNOSTOSIS (CORONAL, SAGITTAL, LAMBDOID SUTURES)(HP:0002685), ARACHNODACTYLY(HP:0001166), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), VENTRICULOMEGALY(HP:0002119), PREAXIAL POLYDACTYLY (HANDS)(HP:0001177), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), HYDROCEPHALUS(HP:0000238), BRACHYTURRICEPHALY(HP:0000244), MALAR HYPOPLASIA(HP:0000272), JOINT CONTRACTURES(HP:0001372), FEMORAL BOWING(HP:0002980), PLAGIOCEPHALY(HP:0001357), OYXCEPHALY(HP:0000263), MEGALENCEPHALY(HP:0001355), BREAST CANCER(HP:0003002), WIDE ANTERIOR FONTANEL(HP:0000260), DELAYED CLOSURE OF FONTANELLES(HP:0000270), CERVICAL VERTEBRAE FUSION, USUALLY AT C5 TO C6(HP:0004635), HYPERTELORISM(HP:0000316), KIDNEY MALFORMATION(HP:0000792), RADIOULNAR SYNOSTOSIS(HP:0002974), NARROW CHEST(HP:0000774), SHORT, BROAD METATARSALS(HP:0001865), LOW FRONTAL HAIRLINE(HP:0000294), LIMITED ELBOW EXTENSION(HP:0001377), MANDIBULAR PROGNATHIA(HP:0000303), LONG PHILTRUM(HP:0000343), APLASIA OF THE 1ST METATARSAL(HP:0010104), RADIOHUMERAL SYNOSTOSIS(HP:0003041), HYPOPLASIA OF THE MAXILLA(HP:0000327), FACIAL ASYMMETRY(HP:0000324), 2-3 TOE SYNDACTYLY(HP:0004691), ELBOW ANKYLOSIS(HP:0003070), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), INCREASED INTRACRANIAL PRESSURE(HP:0002516), LIMBIC MALFORMATIONS(HP:0007343), HALLUX VALGUS(HP:0001822), LOW-SET, POSTERIORLY ROTATED EARS(HP:0000368), MEDIALLY DEVIATED, BROAD GREAT TOES(HP:0004710), SMALL NAILS(HP:0001813), ABSENT SEPTUM PELLUCIDUM(HP:0001331), HIGH, BROAD FOREHEAD(HP:0000354), ULNAR BOWING(HP:0003031), ACANTHOSIS NIGRICANS(HP:0000956), ESOPHAGEAL ATRESIA(HP:0002032), SMALL EARS(HP:0000409), POSTERIOR FOSSA CYSTS(HP:0007291), CARTILAGINOUS TRACHEA(HP:0005347), PROMINENT EARS(HP:0000412), BIFID TERMINAL PHALANGES DIGITS 2 AND 3(HP:0006196), EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), CAMPTODACTYLY (HANDS)(HP:0010563), STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402), HEADACHE(HP:0002315), DEAFNESS(HP:0000404), HEARING LOSS, CONDUCTIVE(HP:0000405), PYLORIC STENOSIS(HP:0002021), DYSPLASTIC EARS(HP:0000398), CHRONIC OTITIS MEDIA(HP:0000389), BROAD PHALANGES OF THE THUMB(HP:0009651), BEAKED NOSE(HP:0000444), FLATTENED NASAL BRIDGE(HP:0000425), DISHARMONIOUS CARPAL BONE(HP:0006153), EXCESSIVE WRINKLED SKIN (PALMS AND SOLES)(HP:0001016), THIN, LONG, POINTED NOSE(HP:0005283), VARIABLE MENTAL RETARDATION(HP:0002382), EARLY DEATH(HP:0001432), DECREASED BODY HEIGHT(HP:0004322), CONGENITAL VERTICAL TALUS(HP:0010218), CHOANAL ATRESIA(HP:0000453), CHOANAL STENOSIS(HP:0000452), PTOSIS(HP:0000508), CONJUNCTIVITIS(HP:0000509), IMPAIRED VISION(HP:0000505), SLEEP APNEA(HP:0010535), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), BRACHYMESOPHALANGY OF HANDS AND FEET(HP:0006239), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554), STRABISMUS(HP:0000486)]
2271	FH	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), UTERINE LEIOMYOMA(HP:0000131), MENTAL RETARDATION, PROFOUND(HP:0002187), HIGHLY VARIABLE PHENOTYPE(HP:0003815), HIGH-ARCHED PALATE(HP:0000156), ERYTHROCYTOSIS(HP:0001901), DECREASED FUMARATE HYDRATASE ACTIVITY(HP:0003536), CHOROID PLEXUS CYST(HP:0002190), CEREBRAL ATROPHY(HP:0002059), CUTANEOUS LEIOMYOMATA(HP:0007620), MUSCULAR HYPOTONIA(HP:0001252), OPTIC ATROPHY(HP:0000648), FRONTAL BOSSING(HP:0002007), DEVELOPMENTAL RETARDATION(HP:0001263), HYPERTELORISM(HP:0000316), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), RELATIVE MACROCEPHALY(HP:0004482), STATUS EPILEPTICUS(HP:0002133), MITOCHONDRIAL INHERITANCE(HP:0001427), ABNORMAL URINARY AMINO-ACID FINDINGS(HP:0003355), NARES, ANTEVERTED(HP:0000463), DECREASED SUBCUTANEOUS FAT(HP:0001002), POLYMICROGYRIA(HP:0002126), RENAL CELL CARCINOMA, SOLITARY PAPILLARY TYPE II(HP:0006732), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), LACTIC ACIDEMIA(HP:0003128), IMPAIRED VISION(HP:0000505), MULTIPLE CUTANEOUS LEIOMYOMAS(HP:0007437), UTERINE LEIOMYOSARCOMA(HP:0002891), PALLOR(HP:0000980), CUTANEOUS LEIOMYOSARCOMA(HP:0006755), MICROCEPHALY(HP:0000252)]
2273	FHL1	[SCAPULOPERONEAL WEAKNESS(HP:0003704), JOINT CONTRACTURES(HP:0001372), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), DILATED CARDIOMYOPATHY(HP:0001644), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), PROXIMAL MUSCLE WEAKNESS(HP:0003701), LIMB MUSCLE WEAKNESS(HP:0003690), SCAPULAR WINGING(HP:0003691), BACK PAIN(HP:0003418), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), PROGRESSIVE DISORDER(HP:0003676), RAPIDLY PROGRESSIVE(HP:0003678), RIMMED VACUOLES(HP:0003805), FREQUENT FALLS(HP:0002359), HYPOREFLEXIA(HP:0001265), RESPIRATORY INSUFFICIENCY(HP:0002093), KYPHOSIS(HP:0002808), SHORT NECK(HP:0000470), AMYOTROPHY(HP:0003202), ONSET IN EARLY ADULTHOOD(HP:0003627), LORDOSIS(HP:0002939), X-LINKED INHERITANCE(HP:0001417), WADDLING GAIT(HP:0002515), AREFLEXIA(HP:0001284), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), BIOPSY SHOWS MYOPATHIC CHANGES(HP:0003742), SCOLIOSIS(HP:0002650), INCREASED SERUM CREATINE KINASE(HP:0002147), FOOT DROP(HP:0003377), 'STEPPAGE' GAIT(HP:0003376)]
2294	FOXF1	[PATENT DUCTUS ARTERIOSUS(HP:0001643), HYPERTENSION(HP:0000822), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RIGHT-TO-LEFT SHUNT(HP:0001694), PULMONARY HYPERTENSION(HP:0002092)]
2296	FOXC1	[PATENT DUCTUS ARTERIOSUS(HP:0001643), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BUPHTHALMOS(HP:0000557), HEARING LOSS, SENSORINEURAL(HP:0000407), MICRODONTIA(HP:0000691), HYPERTELORISM(HP:0000316), HYPODONTIA(HP:0000668), ATRIAL SEPTAL DEFECT(HP:0001631), PROMINENT EYES(HP:0000536), HETEROGENEOUS(HP:0001425), POSTERIOR EMBRYOTOXON(HP:0000627), HYPOPLASTIC IRIS STROMA(HP:0007990)]
2299	FOXI1	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
2301	FOXE3	[CATARACT(HP:0000518), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGENITAL PRIMARY APHAKIA(HP:0007707), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SCLEROCORNEA(HP:0000647), ANIRIDIA(HP:0000526), ANTERIOR SEGMENT OCULAR DYSGENESIS(HP:0007696), ANTERIOR SEGMENT OF EYE APLASIA(HP:0007779), MICROPHTHALMOS(HP:0000568)]
2303	FOXC2	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EPICANTHUS(HP:0000286), TETRALOGY OF FALLOT(HP:0001636), LYMPHEDEMA, PREDOMINANTLY IN THE LOWER LIMBS(HP:0003550), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), DISTICHIASIS(HP:0009743), VENTRICULAR SEPTAL DEFECT(HP:0001629), EPIDURAL ARACHNOID CYSTS OF THE SPINAL CANAL(HP:0009745), KYPHOSIS(HP:0002808), PHOTOPHOBIA(HP:0000613), ABNORMALITIES OF THE VERTEBRAE(HP:0003468), ABNORMALITY OF MUSCULATURE(HP:0003011), BIFID UTERUS(HP:0000136), VARICOSE VEINS(HP:0002619), CLEFT PALATE(HP:0000175), ECTROPION(HP:0000656), CLEFT LIP(HP:0000204), BIFID UVULA(HP:0000193), DECREASED BODY HEIGHT(HP:0004322), WEBBED NECK(HP:0000465), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), CONJUNCTIVITIS(HP:0000509), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), ONSET OF LYMPHEDEMA AROUND PUBERTY(HP:0003605), SCOLIOSIS(HP:0002650), RECURRENT CORNEAL EROSIONS(HP:0000495), STRABISMUS(HP:0000486)]
2304	FOXE1	[BIFID EPIGLOTTIS(HP:0010564), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CHOANAL ATRESIA(HP:0000453), CLEFT PALATE(HP:0000175), POLYHYDRAMNIOS(HP:0001561), ATHYROIDAL HYPOTHYROIDISM(HP:0008191)]
2308	FOXO1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ALVEOLAR RHABDOMYOSARCOMA(HP:0006779)]
2312	FLG	[ASTHMA(HP:0002099), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ICHTHYOSIS(HP:0000955), ECZEMATOID DERMATITIS(HP:0000976)]
2316	FLNA	[KYPHOSCOLIOSIS(HP:0002751), PATENT DUCTUS ARTERIOSUS(HP:0001643), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), OSTEOLYTIC DEFECTS OF THE PHALANGES OF THE HAND(HP:0009771), MITRAL VALVE PROLAPSE(HP:0001634), THICK SKULL BASE(HP:0002737), ABDOMINAL DISTENTION(HP:0003270), INTESTINAL PSEUDO-OBSTRUCTION(HP:0004389), COR PULMONALE(HP:0001648), APLASIA OF THE THUMB(HP:0009777), CRYPTORCHIDISM(HP:0000028), HOARSE VOICE(HP:0001609), SHORT THIRD, FOURTH, FIFTH METACARPALS(HP:0006004), HYPOSPADIAS(HP:0000047), STILLBIRTH(HP:0001624), LARGE FORAMEN MAGNUM(HP:0002700), ANTEGONIAL NOTCHING OF MANDIBLE(HP:0003779), SMALL MANDIBLE WITH OBTUSE ANGLE(HP:0005446), COARSE HAIR(HP:0002208), SCLEROTIC SKULL BASE(HP:0002694), ABSENT FRONTAL SINUSES(HP:0002688), SPONDYLOLYSIS(HP:0003304), NEURONAL MIGRATION DISORDER(HP:0002269), URETERAL STENOSIS(HP:0000071), BROAD DISTAL PHALANGES OF THE HAND(HP:0009836), HYDROURETER(HP:0000072), MULTIPLE IMPACTED TEETH(HP:0001571), NONOSSIFIED FIFTH METATARSAL(HP:0008087), AMYOTROPHY(HP:0003202), SELECTIVE TOOTH AGENESIS(HP:0001592), ANOMALOUS FIFTH METATARSAL(HP:0008089), PARTIAL FUSION OF TARSALS(HP:0008097), KNEE AND ANKLE CONTRACTURES(HP:0004985), RUDIMENTARY TO ABSENT FIBULAE(HP:0004986), OMPHALOCELE(HP:0001539), HETEROTOPIA(HP:0002282), HYDRONEPHROSIS(HP:0000126), BIPARTITE CALCANEUS(HP:0008127), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), MILD, LATERAL FEMORAL BOWING(HP:0005022), DELAYED DENTITION(HP:0000684), TOE SYNDACTYLY(HP:0001770), INCREASED DENSITY OF LONG BONE DIAPHYSES(HP:0006440), SCAPULAR WINGING(HP:0003691), 'TREE-FROG' FEET(HP:0001782), STRIDOR(HP:0010307), MALALIGNED TEETH(HP:0000693), SHORT, BROAD THUMBS(HP:0001240), DENTAL MALOCCLUSION(HP:0000689), NASAL HYPOPLASIA(HP:0003196), CLEFT PALATE(HP:0000175), FUSION OF CARPAL BONES(HP:0005048), EXOPHTHALMOS(HP:0000645), FINGER AND WRIST CONTRACTURES(HP:0006137), MICROSTOMIA(HP:0000160), MENTAL RETARDATION, MILD(HP:0001256), MOTOR RETARDATION(HP:0001270), INTESTINAL MALROTATION(HP:0002566), SPASTIC DIPLEGIA(HP:0001264), PULMONARY HYPERTENSION(HP:0002092), RESPIRATORY INSUFFICIENCY(HP:0002093), COXA VALGA(HP:0002673), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), TRICUSPID VALVE PROLAPSE(HP:0001704), ARACHNODACTYLY(HP:0001166), DISLOCATED RADIAL HEAD(HP:0003083), PECTUS EXCAVATUM(HP:0000767), HIGH PALATE(HP:0000218), HYDROCEPHALUS(HP:0000238), NAIL DYSPLASIA(HP:0002164), WORMIAN BONES(HP:0002645), RADIAL DEVIATION OF THE 2ND FINGER(HP:0009467), SMALL FACE(HP:0000274), CONGENITAL HIP DISLOCATION(HP:0001374), MALAR HYPOPLASIA(HP:0000272), ANTERIORLY PLACED ODONTOID PROCESS(HP:0004608), ANTERIOR CONCAVITY OF THORACIC VERTEBRAE(HP:0004611), ELBOW CONTRACTURES(HP:0002987), RADIAL BOWING(HP:0002986), BROAD FACE(HP:0000283), TIBIAL BOWING(HP:0002982), COARSE FACIAL FEATURES(HP:0000280), WIDE ANTERIOR FONTANEL(HP:0000260), RECURRENT SYMPTOMS AND SIGNS OF INTESTINAL OBSTRUCTION(HP:0005239), CEREBROVASCULAR ACCIDENT(HP:0002452), PROMINENT OCCIPUT(HP:0000269), THROMBOCYTOPENIA(HP:0001873), FUSED CERVICAL VERTEBRAE(HP:0002949), HYPERTELORISM(HP:0000316), FLAT PHILTRUM(HP:0000319), NARROW CHEST(HP:0000774), SHORT RIBS(HP:0000773), GENU VARUM(HP:0002970), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), ONSET IN INFANCY(HP:0003576), LIMITED ELBOW EXTENSION(HP:0001377), SHORT, BROAD HALLUCES(HP:0001861), GAP BETWEEN FIRST AND SECOND TOES(HP:0001852), GENU VARUS(HP:0003052), PROMINENT SUPRAORBITAL RIDGES(HP:0000336), INCREASED DENSITY OF LONG BONES(HP:0006392), LIMITED KNEE FLEXION(HP:0006389), INTRACTABLE SEIZURES(HP:0001303), SEVERE MICROGNATHIA(HP:0000345), SHORT CLAVICLES(HP:0000894), GAIT DISTURBANCE(HP:0001288), CONFUSION(HP:0001289), LARGE FEET(HP:0001833), LOW-SET EARS(HP:0000369), METAPHYSEAL FLARING(HP:0003015), SHORT HUMERI(HP:0003014), POSTERIORLY ROTATED EARS(HP:0000358), PERSISTENCE OF DECIDUOUS TEETH(HP:0006341), ULNAR BOWING(HP:0003031), UNDULATE CLAVICLES(HP:0010560), SHORT, BROAD DISTAL PHALANGES(HP:0006199), RECURRENT OTITIS MEDIA(HP:0000403), LARGE EARS(HP:0000400), PARTIAL FUSION OF CARPALS(HP:0006207), HEARING LOSS, SENSORINEURAL(HP:0000407), GENU VALGUM(HP:0002857), HYPOPLASTIC ILIA(HP:0000946), HEARING LOSS, CONDUCTIVE(HP:0000405), DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476), PYLORIC STENOSIS(HP:0002021), FEEDING DIFFICULTIES(HP:0002022), 'COAT HANGER' DEFORMITY OF LOWER RIBS(HP:0006665), ACCESSORY CARPAL BONES(HP:0004232), PLATYSPONDYLY(HP:0000926), HYPOPLASTIC, IRREGULAR METACARPALS(HP:0006160), FRONTAL BOSSING(HP:0002007), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), BROAD NASAL ROOT(HP:0000424), SHORT SCAPULAE(HP:0000906), BROAD NASAL BRIDGE(HP:0000431), SMALL POINTED CHIN(HP:0005330), WIDE AND ELONGATED PHALANGES(HP:0006155), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), LONG NECK(HP:0000472), DECREASED BODY HEIGHT(HP:0004322), HIRSUTISM(HP:0001007), X-LINKED RECESSIVE INHERITANCE(HP:0001419), CONGENITAL VERTICAL TALUS(HP:0010218), X-LINKED DOMINANT INHERITANCE(HP:0001423), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), COAGULOPATHY(HP:0001925), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486), VERTICAL CLIVUS(HP:0010559), OVERLAPPING FINGERS(HP:0010557)]
2317	FLNB	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL DEATH(HP:0003811), SPINAL CORD COMPRESSION(HP:0002176), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), LARYNGEAL STENOSIS(HP:0001602), STILLBIRTH(HP:0001624), VENTRICULAR SEPTAL DEFECT(HP:0001629), SPINA BIFIDA OCCULTA(HP:0003298), ATRIAL SEPTAL DEFECT(HP:0001631), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), BLOCK VERTEBRAE(HP:0003305), PREMATURE BIRTH(HP:0001622), SPONDYLOLYSIS(HP:0003304), DISLOCATIONS OF THE KNEES(HP:0004976), TRACHEAL STENOSIS(HP:0002777), TRACHEOMALACIA(HP:0002779), BRONCHOMALACIA(HP:0002780), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), SHALLOW ORBITS(HP:0000586), RENAL CYSTS(HP:0000107), POLYHYDRAMNIOS(HP:0001561), BIPARTITE CALCANEUS(HP:0008127), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), SPATULATE THUMBS(HP:0001222), CLUBBING(HP:0001217), TALIPES EQUINOVALGUS(HP:0001772), HITCHHIKER THUMB(HP:0001234), DISLOCATIONS OF THE WRISTS(HP:0004992), RIGIDITY(HP:0002063), HYPOPLASTIC NARES AND SEPTUM(HP:0004507), CLEFT PALATE(HP:0000175), MENTAL RETARDATION(HP:0001249), ABSENT-HYPOPLASTIC ULNAE(HP:0006410), HYPOPLASTIC NOSTRILS(HP:0004497), SHORT FEMORA WITH PROXIMAL CLUBBING AND DISTAL TAPERING(HP:0006408), HYPODONTIA(HP:0000668), FLAT ACETABULAR ROOFS(HP:0003180), ENCEPHALOCELE(HP:0002084), RESTRICTIVE LUNG DISEASE(HP:0002091), HYPOPLASTIC CERVICAL VERTEBRAE(HP:0008434), CLEFT LIP(HP:0000204), BRACHYDACTYLY(HP:0001156), THORACIC PLATYSPONDYLY(HP:0004592), EPIPHYSEAL DYSPLASIA(HP:0002656), PECTUS EXCAVATUM(HP:0000767), RAREFACTION OF RETINAL PIGMENTATION(HP:0007961), AORTIC DILATATION(HP:0001724), MICROGNATHIA(HP:0000210), MULTIPLE CARPAL OSSIFICATION CENTERS(HP:0006067), BEAKING OF VERTEBRAL BODIES(HP:0004568), SCOLIOSIS(HP:0002650), SYNOSTOSIS INVOLVING TARSAL BONES(HP:0008368), TOMBSTONE-SHAPED PROXIMAL PHALANGES(HP:0006060), CERVICAL SPINE SEGMENTATION DEFECTS(HP:0004612), FIBULAR APLASIA(HP:0002990), MALAR HYPOPLASIA(HP:0000272), SHORT STATURE, DISPROPORTIONATE (SHORT TRUNK)(HP:0003521), RADIAL BOWING(HP:0002986), BROAD FACE(HP:0000283), TIBIAL BOWING(HP:0002982), PROMINENT OCCIPUT(HP:0000269), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), SMALL ILIAC BODIES(HP:0005740), FUSED CERVICAL VERTEBRAE(HP:0002949), CERVICAL KYPHOSIS(HP:0002947), HYPERTELORISM(HP:0000316), JOINT LAXITY(HP:0001388), GENU VARUM(HP:0002970), PECTUS CARINATUM(HP:0000768), RHIZOMELIC SHORTENING(HP:0002968), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), GAP BETWEEN FIRST AND SECOND TOES(HP:0001852), GENU VARUS(HP:0003052), ELBOW DISLOCATION(HP:0003042), MANDIBULAR HYPOPLASIA(HP:0000347), HYPOPLASIA OF THE MAXILLA(HP:0000327), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), C2-C3 SUBLUXATION(HP:0008456), 11 PAIRS OF RIBS(HP:0000878), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), PROMINENT GLOBES(HP:0007870), SHORT HUMERI(HP:0003014), SHORT LIMB DWARFISM(HP:0003505), ANTERIOR CORNEAL LENS OPACITIES(HP:0007844), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), SHORT NAILS(HP:0001799), MIXED HEARING LOSS(HP:0000410), WIDENED DISTAL PHALANGES(HP:0006200), CORONAL CLEFT VERTEBRAE(HP:0003417), PREAURICULAR SKIN TAG(HP:0000384), ACCESSORY CARPAL BONES(HP:0004232), FRONTAL BOSSING(HP:0002007), DISLOCATED HIPS(HP:0002827), FLATTENED NASAL BRIDGE(HP:0000425), BROAD NASAL ROOT(HP:0000424), HORIZONTAL SACRUM(HP:0003440), PRENATAL GROWTH DEFICIENCY(HP:0001515), SHORT NECK(HP:0000470), NARES, ANTEVERTED(HP:0000463), LORDOSIS(HP:0002939), ISOLATED CASES(HP:0001420), METABOLISM ABNORMALITY(HP:0001939), SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702), BROAD, SQUARE NASAL TIP(HP:0005269)]
2318	FLNC	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROXIMAL MUSCLE WEAKNESS(HP:0003701), LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS(HP:0003483), DIFFICULTY CLIMBING STAIRS(HP:0003551), WADDLING GAIT(HP:0002515), SLOW PROGRESSION(HP:0003677), MUSCLE FIBER SPLITTING(HP:0003555), INCREASED SERUM CREATINE KINASE(HP:0002147), MUSCLE BIOPSY SHOWS MYOFIBRILLAR MYOPATHY(HP:0003715), ONSET IN ADULTHOOD(HP:0003581), RESPIRATORY INSUFFICIENCY(HP:0002093), ABNORMAL MUSCLE FIBERS WITH AMORPHOUS, GRANULAR, OR HYALINE DEPOSITS(HP:0003790)]
2322	FLT3	[ACUTE MYELOID LEUKEMIA(HP:0004808), FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
2324	FLT4	[ABNORMALITY OF THE NAILS(HP:0001597), ONSET USUALLY AT BIRTH(HP:0003624), SPORADIC(HP:0003745), LYMPHEDEMA, PREDOMINANTLY IN THE LOWER LIMBS(HP:0003550), LYMPHOGRAPHY SHOWS HYPOPLASIA OF LYMPHATIC VESSELS(HP:0003759), CAPILLARY HEMANGIOMAS(HP:0005306), NONIMMUNE HYDROPS FETALIS(HP:0001790), HYDROCELE(HP:0000034), HYDROPS(HP:0000990), HYPERKERATOSIS OVER EDEMATOUS AREAS(HP:0007448), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560), LATE ONSET(HP:0003584), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
2328	FMO3	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANEMIA(HP:0001903), TACHYCARDIA(HP:0001649), TRIMETHYLAMINURIA(HP:0003614), DEPRESSION(HP:0000716), NEUTROPENIA(HP:0001875), SPLENOMEGALY(HP:0001744), RECURRENT PNEUMONIA(HP:0002095)]
2332	FMR1	[POOR EYE CONTACT(HP:0000817), INCOMPLETE PENETRANCE(HP:0003829), LONG FACE(HP:0000276), MITRAL VALVE PROLAPSE(HP:0001634), COARSE FACIAL FEATURES(HP:0000280), MACROCEPHALY(HP:0000256), ABNORMAL HEAD MOVEMENTS(HP:0002457), FOLATE-DEPENDENT FRAGILE SITE AT XQ28(HP:0003564), JOINT LAXITY(HP:0001388), MENTAL RETARDATION (MODERATE TO SEVERE IN MALES)(HP:0002499), LEARNING DISABILITY(HP:0001328), HETEROTOPIA(HP:0002282), PES PLANUS(HP:0001763), LARGE EARS(HP:0000400), MENTAL RETARDATION, MODERATE TO SEVERE(HP:0002316), MACROORCHIDISM, POSTPUBERTAL(HP:0002050), PROMINENT JAW(HP:0002051), CONGENITAL MACROORCHIDISM(HP:0008640), LARGE FOREHEAD(HP:0002003), MENTAL RETARDATION, MODERATE(HP:0002342), MENTAL RETARDATION, MILD(HP:0001256), PECTUS EXCAVATUM(HP:0000767), HYPERACTIVITY(HP:0000752), X-LINKED DOMINANT INHERITANCE(HP:0001423), AUTISM(HP:0000717), SCOLIOSIS(HP:0002650)]
2334	AFF2	[METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION(HP:0001249), X-LINKED INHERITANCE(HP:0001417)]
2335	FN1	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROTEINURIA(HP:0000093), GENERALIZED DISTAL TUBULAR ACIDOSIS(HP:0004916), NEPHROTIC SYNDROME(HP:0000100), RENAL CELL CARCINOMA(HP:0005584), MICROSCOPIC HEMATURIA(HP:0002907), RENAL TUBULAR DYSFUNCTION(HP:0000124)]
2348	FOLR1	[SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEURODEGENERATION(HP:0002180), DEVELOPMENTAL REGRESSION(HP:0002376)]
2395	FXN	[PES CAVUS(HP:0001761), DIABETES MELLITUS(HP:0000819), LIMB ATAXIA(HP:0002070), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), ABNORMALITY OF VISION EVOKED POTENTIALS(HP:0000649), OPTIC ATROPHY(HP:0000648), DYSARTHRIA(HP:0001260), VISUAL FIELD DEFECTS(HP:0001123), ONSET BEFORE ADOLESCENCE(HP:0003659), IMPAIRED VIBRATORY SENSE(HP:0002495), AREFLEXIA IN LOWER LIMBS(HP:0002522), LOW PYRUVATE CARBOXYLASE ACTIVITY IN LIVER AND CULTURED FIBROBLASTS(HP:0003209), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), IMPAIRED VISION(HP:0000505), ABNORMAL MOTOR AND SENSORY NERVE CONDUCTION(HP:0003134), SCOLIOSIS(HP:0002650), ABNORMAL EKG(HP:0003115), ABNORMAL ECHOCARDIOGRAM(HP:0003116)]
2488	FSHB	[METABOLISM ABNORMALITY(HP:0001939), PRIMARY AMENORRHEA(HP:0000786), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
2492	FSHR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GONADAL DYSGENESIS(HP:0000133), NAUSEA(HP:0002018), OSTEOPOROSIS(HP:0000939), ABDOMINAL PAIN(HP:0002027), PRIMARY AMENORRHEA(HP:0000786), ASCITES(HP:0001541), ELEVATED GONADOTROPINS(HP:0000837)]
2512	FTL	[BRADYKINESIA(HP:0002067), COGNITIVE DEFECTS(HP:0002441), INCREASED SERUM FERRITIN(HP:0003281), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGENITAL NUCLEAR CATARACT(HP:0008024), VARIABLE PHENOTYPE(HP:0003813), HYPERREFLEXIA(HP:0001347), RIGIDITY(HP:0002063), CEREBELLAR ATAXIA(HP:0001253), PROGRESSIVE DISORDER(HP:0003676), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), SPASTICITY(HP:0001257), BLEPHAROSPASM(HP:0000643), MRI IMAGING SHOWS CAVITATION OF THE BASAL GANGLIA(HP:0007246), CHOREOATHETOSIS(HP:0001266), WRITER'S CRAMP(HP:0002356), DYSPHONIA(HP:0001618), PARKINSONISM(HP:0001300), BRAIN TISSUE SHOWS CAVITATION OF THE BASAL GANGLIA(HP:0007007), BABINSKI SIGN(HP:0003487), TREMOR(HP:0001337), EMOTIONAL LABILITY(HP:0000712), MUTISM(HP:0002300), DISINHIBITION(HP:0000734), ANARTHRIA(HP:0002425), DEMENTIA(HP:0000726)]
2517	FUCA1	[CARDIOMEGALY(HP:0001640), JOINT CONTRACTURES(HP:0001372), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), COARSE FACIAL FEATURES(HP:0000280), ANTERIOR BEAKING OF THORACIC AND LUMBAR VERTEBRAE(HP:0004630), THICK EYEBROWS(HP:0000574), HYPERTELORISM(HP:0000316), ABSENT/HYPOPLASTIC PARANASAL SINUSES(HP:0005453), SPASTIC TETRAPLEGIA(HP:0002510), HEPATOMEGALY(HP:0002240), HEARING LOSS(HP:0000365), BARREL-SHAPED CHEST(HP:0001552), DRY SKIN(HP:0000958), DYSOSTOSIS MULTIPLEX(HP:0000943), MACROGLOSSIA(HP:0000158), CEREBRAL ATROPHY(HP:0002059), FULL LIPS(HP:0000170), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), BROAD NOSE(HP:0000445), FRONTAL BOSSING(HP:0002007), MENTAL RETARDATION(HP:0001249), SPLENOMEGALY(HP:0001744), POLYNEUROPATHY(HP:0001271), ABSENT/HYPOPLASTIC COCCYX(HP:0008436), HYPERTONIA(HP:0001276), COXA VALGA(HP:0002673), DECREASED BODY HEIGHT(HP:0004322), ANGIOKERATOMA(HP:0001014), LUMBAR HYPERLORDOSIS(HP:0002938), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), TORTUOSITY OF CONJUNCTIVAL VESSELS(HP:0000503), SCOLIOSIS(HP:0002650), CERVICAL PLATYSPONDYLY(HP:0004558), ANHIDROSIS(HP:0000970), VACUOLATED LYMPHOCYTES(HP:0001922)]
2519	FUCA2	[METABOLISM ABNORMALITY(HP:0001939), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
2523	FUT1	[HEMATOLOGICAL ABNORMALITY(HP:0001871), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
2532	DARC	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
2538	G6PC	[DELAYED PUBERTY(HP:0000823), HYPERTENSION(HP:0000822), GOUTY ARTHRITIS(HP:0001368), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), OSTEOPOROSIS(HP:0000939), LIVER TRANSAMINASES NORMAL TO SLIGHTLY INCREASED(HP:0003143), BLEEDING DIATHESIS(HP:0001892), DECREASED MUSCLE MASS(HP:0003199), KIDNEY STONES(HP:0000787), PANCREATITIS(HP:0001733), HEPATOCELLULAR CARCINOMA(HP:0001402), 'DOLL-LIKE' FACIES(HP:0000295), LIPEMIA RETINALIS(HP:0000660), DECREASED BODY HEIGHT(HP:0004322), INTERMITTENT DIARRHEA(HP:0002254), PROTEINURIA(HP:0000093), HEPATOMEGALY(HP:0002240), HYPERLIPIDEMIA(HP:0003077), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), XANTHOMATOSIS(HP:0000991), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), FOCAL SEGMENTAL GLOMERULOSCLEROSIS(HP:0000097), PROTUBERANT ABDOMEN(HP:0001538), ENLARGED KIDNEYS(HP:0000105), HYPERURICEMIA(HP:0002149), REDUCED CREATININE CLEARANCE(HP:0000120)]
2539	G6PD	[JAUNDICE(HP:0000952), EPISODIC HEMOLYTIC ANEMIA(HP:0004802), NORMOCYTIC ANEMIA(HP:0001897), CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0004824), DRUG-SENSITIVE HEMOLYTIC ANEMIAS(HP:0004817), NORMOCHROMIC ANEMIA(HP:0001895), IMMUNOLOGICAL ABNORMALITY(HP:0002715), SPLENOMEGALY(HP:0001744), CHOLECYSTITIS(HP:0001082), CHOLELITHIASIS(HP:0001081), GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY(HP:0003568), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
2542	SLC37A4	[DELAYED PUBERTY(HP:0000823), HYPERTENSION(HP:0000822), GOUTY ARTHRITIS(HP:0001368), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KETONEMIA(HP:0003543), HEMATURIA(HP:0000790), RECURRENT BACTERIAL INFECTIONS(HP:0002718), KIDNEY STONES(HP:0000787), HEPATOCELLULAR CARCINOMA(HP:0001402), NEUTROPENIA(HP:0001875), CHRONIC PANCREATITIS(HP:0006280), 'DOLL-LIKE' FACIES(HP:0000295), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), HEPATOMEGALY(HP:0002240), FOCAL SEGMENTAL GLOMERULOSCLEROSIS(HP:0000097), PROTUBERANT ABDOMEN(HP:0001538), ENLARGED KIDNEYS(HP:0000105), REDUCED CREATININE CLEARANCE(HP:0000120), INFLAMMATORY BOWEL DISEASE(HP:0002037), ORAL ULCERS(HP:0000155), OSTEOPOROSIS(HP:0000939), LIVER TRANSAMINASES NORMAL TO SLIGHTLY INCREASED(HP:0003143), LIPEMIA RETINALIS(HP:0000660), PULMONARY HYPERTENSION(HP:0002092), DECREASED BODY HEIGHT(HP:0004322), CAPILLARY HEMANGIOMAS(HP:0005306), HYPERLIPIDEMIA(HP:0003077), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), XANTHOMATOSIS(HP:0000991), HEPATOBLASTOMA(HP:0002884), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), HYPERURICEMIA(HP:0002149)]
2548	GAA	[CARDIOMEGALY(HP:0001640), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), WEAKNESS(HP:0002309), PROXIMAL MUSCLE WEAKNESS(HP:0003701), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SLOW PROGRESSION(HP:0003677), SPLENOMEGALY(HP:0001744), DYSPNEA(HP:0002094), RESPIRATORY INSUFFICIENCY(HP:0002093), CEREBRAL ANEURYSM(HP:0004944), SHORTENED P-R INTERVAL ON EKG(HP:0005165), WOLF-PARKINSON-WHITE SYNDROME(HP:0001716), ABNORMAL MYELINATION(HP:0002520), HEPATOMEGALY(HP:0002240), INCREASED CREATINE KINASE(HP:0003078), DIAPHRAGMATIC PARALYSIS(HP:0006597), FEVER(HP:0001945), FIRM MUSCLES(HP:0003725), HEARING LOSS(HP:0000365), ABSENT DEEP TENDON REFLEXES(HP:0001314), LATE ONSET(HP:0003584)]
2556	GABRA3	[X-LINKED INHERITANCE(HP:0001417)]
2566	GABRG2	[STATUS EPILEPTICUS(HP:0002133), UNILATERAL CLONIC SEIZURES(HP:0006813), FEBRILE SEIZURES(HP:0002373), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COMPLEX PARTIAL SEIZURES(HP:0002384), ABSENCE SEIZURES(HP:0002121), MYOCLONIC SEIZURES(HP:0002123), ATAXIA(HP:0001251), FEVER(HP:0001945), MOTOR RETARDATION(HP:0001270), MENTAL DETERIORATION(HP:0001268), ONSET IN FIRST YEAR OF LIFE(HP:0003599), EPILEPSY(HP:0001275)]
2571	GAD1	[SPASTIC TETRAPLEGIA(HP:0002510), HETEROGENEOUS(HP:0001425), CONTRACTURES(HP:0001371), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERREFLEXIA(HP:0001347), BABINSKI SIGN(HP:0003487), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), SPASTIC DIPLEGIA(HP:0001264), HYPERTONIA(HP:0001276), ONSET IN INFANCY(HP:0003576)]
2581	GALC	[NEUROPATHY(HP:0003407), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERACTIVE DEEP TENDON REFLEXES(HP:0006801), DEAFNESS(HP:0000404), NEURODEGENERATION(HP:0002180), MOTOR DETERIORATION(HP:0002333), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), ABNORMAL FLASH VISUAL EVOKED POTENTIALS(HP:0007928), VOMITING(HP:0002013), EEG ABNORMALITIES(HP:0002353), FAILURE TO THRIVE(HP:0001508), ONSET IN ADULTHOOD(HP:0003581), HYPERTONIA(HP:0001276), DIFFUSE CEREBRAL ATROPHY(HP:0002506), BLINDNESS(HP:0000618), IRRITABILITY(HP:0000737), INCREASED CSF PROTEIN(HP:0002922), DEVELOPMENTAL REGRESSION(HP:0002376), CHRONIC IMMUNE THROMBOCYTOPENIA(HP:0004806), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), HYDROCEPHALUS(HP:0000238), SENSORIMOTOR NEUROPATHY(HP:0007141), FEVER(HP:0001945), DEMYELINATION(HP:0003381)]
2582	GALE	[JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), HEARING LOSS, SENSORINEURAL(HP:0000407), LANGUAGE DELAY(HP:0002336), MUSCULAR HYPOTONIA(HP:0001252), GALACTOSE INTOLERANCE(HP:0004919), DEVELOPMENTAL RETARDATION(HP:0001263), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), HEPATOMEGALY(HP:0002240), COGNITIVE DELAY(HP:0002532), AMINOACIDURIA(HP:0002903)]
2584	GALK1	[NEONATAL JAUNDICE(HP:0000986), CATARACT(HP:0000518), GALACTOSE INTOLERANCE(HP:0004919), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERBILIRUBINEMIA(HP:0002904)]
2588	GALNS	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILDLY COARSE FACIES(HP:0000281), INGUINAL HERNIA(HP:0000023), CONSTRICTED ILIAC WINGS(HP:0003277), ABNORMALITY OF THE HEART VALVES(HP:0001654), CORNEAL CLOUDING(HP:0000515), MILD HEPATOMEGALY(HP:0001398), JOINT LAXITY(HP:0001388), OVOID VERTEBRAL BODIES(HP:0003300), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), CERVICAL SUBLUXATION(HP:0003308), HYPERLORDOSIS(HP:0003307), MANDIBULAR PROGNATHIA(HP:0000303), ULNAR DEVIATION OF THE WRIST(HP:0003049), KYPHOSIS(HP:0002808), EPIPHYSEAL DEFORMITIES OF TUBULAR BONES(HP:0003053), PROMINENT STERNUM(HP:0000884), METAPHYSEAL WIDENING(HP:0003016), SHORT-TRUNKED DWARFISM(HP:0003500), HEARING LOSS(HP:0000365), WIDELY SPACED TEETH(HP:0000687), POINTED PROXIMAL SECOND THROUGH FIFTH METACARPALS(HP:0001223), GRAYISH ENAMEL(HP:0000683), CERVICAL MYELOPATHY(HP:0002318), GENU VALGUM(HP:0002857), WIDE MOUTH(HP:0000154), OSTEOPOROSIS(HP:0000939), PLATYSPONDYLY(HP:0000926), FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740), CARIOUS TEETH(HP:0000670), FLARING OF RIB CAGE(HP:0000904), RESTRICTIVE LUNG DISEASE(HP:0002091), COXA VALGA(HP:0002673), ONSET BETWEEN 1-3 YEARS(HP:0003625), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), SCOLIOSIS(HP:0002650)]
2591	GALNT3	[ANGIOID STREAKS(HP:0001102), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TAURODONTIA(HP:0000679), ABNORMALITY OF THE SKIN(HP:0000951), CONJUNCTIVAL WHITISH 'SALT-LIKE' DEPOSITS(HP:0007799), DECREASED RENAL TUBULAR PHOSPHATE EXCRETION(HP:0005572), INCREASED RENAL TUBULAR PHOSPHATE REABSORPTION(HP:0005571), ONSET IN FIRST DECADE(HP:0003582), CALCINOSIS(HP:0003761), THIN DENTAL ENAMEL(HP:0003770), PULP STONES(HP:0003771), VASCULAR CALCIFICATIONS(HP:0004934), HYPERPHOSPHATEMIA(HP:0002905)]
2592	GALT	[DECREASED LIVER FUNCTION, PROGRESSIVE(HP:0006570), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELEVATED LIVER ENZYMES(HP:0003293), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), CATARACT(HP:0000518), HYPERCHLOREMIC METABOLIC ACIDOSIS(HP:0004918), GALACTOSE INTOLERANCE(HP:0004919), DIARRHEA(HP:0002014), HEMOLYTIC ANEMIA(HP:0001878), VOMITING(HP:0002013), CIRRHOSIS(HP:0001394), FAILURE TO THRIVE(HP:0001508), MENTAL RETARDATION IF UNTREATED(HP:0003767), PREMATURE OVARIAN FAILURE(HP:0008209), HEPATOMEGALY(HP:0002240), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), METABOLIC ACIDOSIS(HP:0001942), AMINOACIDURIA(HP:0002903)]
2593	GAMT	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTRACTABLE SEIZURES(HP:0001303), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), HYPERREFLEXIA(HP:0001347), MYOCLONUS(HP:0001336), ATAXIA(HP:0001251), METABOLISM ABNORMALITY(HP:0001939), PROGRESSIVE DISORDER(HP:0003676), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), PROGRESSIVE EXTRAPYRAMIDAL MOVEMENT DISORDER(HP:0007153), HYPERTONIA(HP:0001276)]
2617	GARS	[PES PLANUS(HP:0001763), PES CAVUS(HP:0001761), HAMMER TOES(HP:0001765), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FIRST DORSAL INTEROSSEI MUSCLE WEAKNESS(HP:0003392), THENAR MUSCLE ATROPHY(HP:0003393), LIMB MUSCLE WEAKNESS(HP:0003690), DISTAL AMYOTROPHY(HP:0003693), HYPERREFLEXIA(HP:0001347), SLOW PROGRESSION(HP:0003677), COLD-INDUCED HAND CRAMPS(HP:0003435), FIRST DORSAL INTEROSSEI MUSCLE ATROPHY(HP:0003426), THENAR MUSCLE WEAKNESS(HP:0003427), HYPOREFLEXIA(HP:0001265), UPPER LIMB WEAKNESS AND ATROPHY PREDOMINATES(HP:0003471), MEAN AGE OF ONSET 18 YEARS(HP:0003628), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), SCOLIOSIS(HP:0002650)]
2623	GATA1	[HYPOTHYROIDISM(HP:0000821), ANEMIA, DYSERYTHROPOIETIC(HP:0005501), SMALL EARS(HP:0000409), MALAR HYPOPLASIA(HP:0000272), TRANSVERSE PALMAR CREASES(HP:0000954), CONGENITAL THROMBOCYTOPENIA(HP:0001905), BRUSHFIELD SPOTS(HP:0001088), EPICANTHUS(HP:0000286), HEARING LOSS, CONDUCTIVE(HP:0000405), MACROGLOSSIA(HP:0000158), ANAL ATRESIA(HP:0002023), HYPOPLASTIC ILIAC WINGS(HP:0002866), BLEEDING DIATHESIS(HP:0001892), MUSCULAR HYPOTONIA(HP:0001252), MENTAL RETARDATION(HP:0001249), SHALLOW ACETABULAR FOSSAE(HP:0003182), JOINT LAXITY(HP:0001388), SPLENOMEGALY(HP:0001744), DUODENAL STENOSIS/ATRESIA(HP:0005205), EPISTAXIS(HP:0000421), ALZHEIMER DISEASE(HP:0002511), EXCESS NUCHAL SKIN(HP:0000474), ATLANTOAXIAL INSTABILITY(HP:0003467), DECREASED BODY HEIGHT(HP:0004322), SHORT BROAD HANDS(HP:0001174), CONGENITAL MEGACOLON(HP:0002251), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPOPLASTIC/SMALL MIDDLE PHALANX OF THE 5TH FINGER(HP:0004220), ACUTE MEGAKARYOCYTIC LEUKEMIA(HP:0006733), ISOLATED CASES(HP:0001420), UPSLANTING PALPEBRAL FISSURES(HP:0000582), ECCHYMOSES(HP:0000978), PROLONGED BLEEDING TIME(HP:0003010), COMPLETE ATRIOVENTRICULAR CANAL(HP:0001674), RED CELL ACANTHOCYTOSIS(HP:0001927), RETICULOCYTOSIS(HP:0001923), BRACHYCEPHALY(HP:0000248), PERSISTENT BLEEDING AFTER TRAUMA(HP:0001934), PETECHIAE(HP:0000967)]
2625	GATA3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOPARATHYROIDISM(HP:0000829), HEARING LOSS, SENSORINEURAL(HP:0000407), NEPHROSIS(HP:0000801), RENAL DYSPLASIA(HP:0000110), PROGRESSIVE RENAL INSUFFICIENCY(HP:0000106)]
2629	GBA	[CARDIOMEGALY(HP:0001640), RETROGNATHIA(HP:0000278), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ESOTROPIA(HP:0000565), HIGHLY VARIABLE PHENOTYPE(HP:0003815), DECREASED SPONTANEOUS MOVEMENTS AT BIRTH(HP:0006795), OPISTHOTONUS(HP:0002179), SLOWED HORIZONTAL SACCADES(HP:0007885), HYPERREFLEXIA(HP:0001347), VERTEBRAL COMPRESSION FRACTURES(HP:0002953), CORNEAL CLOUDING(HP:0000515), INTERSTITIAL PULMONARY DISEASE(HP:0006530), HEPATIC FAILURE(HP:0001399), HYPERTELORISM(HP:0000316), PANCYTOPENIA(HP:0001876), ARTHROGRYPOSIS(HP:0001390), BULBAR SIGNS(HP:0002483), ONSET IN CHILDHOOD(HP:0003578), PREMATURE BIRTH(HP:0001622), SUPRANUCLEAR OPHTHALMOPLEGIA(HP:0000623), TRIANGULAR FACIES(HP:0000325), VASCULAR CALCIFICATIONS(HP:0004934), SMALL CHEST(HP:0001590), HEPATOMEGALY(HP:0002240), SUPRANUCLEAR GAZE PALSY, HORIZONTAL(HP:0007817), AORTIC STENOSIS DUE TO CALCIFICATIONS(HP:0005173), MYOCLONUS(HP:0001336), LOW-SET EARS(HP:0000369), ASCITES(HP:0001541), CALCIFICATIONS OF THE AORTA(HP:0004963), POLYHYDRAMNIOS(HP:0001561), MITRAL STENOSIS DUE TO CALCIFICATIONS(HP:0005149), DECREASED FETAL MOVEMENT(HP:0001558), PATHOLOGIC FRACTURE(HP:0002756), 'ERLENMEYER FLASK' DEFORMITY OF THE FEMURS(HP:0004975), PES CAVUS(HP:0001761), AKINESIA(HP:0002304), SMALL EARS(HP:0000409), HYPERPIGMENTATION(HP:0000953), ICHTHYOSIS(HP:0000955), SPASTIC PARAPARESIS(HP:0002313), DESQUAMATION OF SKIN SOON AFTER BIRTH(HP:0007549), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), NONIMMUNE HYDROPS FETALIS(HP:0001790), RIGIDITY(HP:0002063), FULL LIPS(HP:0000170), RESPIRATORY DISTRESS(HP:0002098), NASAL HYPOPLASIA(HP:0003196), ATAXIA(HP:0001251), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), RECURRENT ASPIRATION PNEUMONIA(HP:0002106), MICROSTOMIA(HP:0000160), APNEA(HP:0002104), POOR WEIGHT GAIN(HP:0001535), DYSPHAGIA(HP:0002015), DECREASED BETA-GLUCOCEREBROSIDASE PROTEIN AND ACTIVITY(HP:0003656), FLATTENED NASAL BRIDGE(HP:0000425), SPLENOMEGALY(HP:0001744), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), INTRAUTERINE GROWTH RETARDATION(HP:0001511), NYSTAGMUS, HORIZONTAL(HP:0000666), ADULT ONSET HAS BEEN REPORTED(HP:0003662), HYPERTONIA(HP:0001276), PULMONARY HYPOPLASIA(HP:0002089), EPISTAXIS(HP:0000421), OCULOMOTOR APRAXIA(HP:0000657), PULMONARY HYPERTENSION(HP:0002092), HYPOKINESIA(HP:0002375), HYPERSPLENISM(HP:0001971), LARYNGEAL STRIDOR(HP:0006511), DECREASED BODY HEIGHT(HP:0004322), APATHY(HP:0000741), OPEN MOUTH(HP:0000194), NARES, ANTEVERTED(HP:0000463), VENTRICULOMEGALY(HP:0002119), PULMONARY INFILTRATES(HP:0002113), MICROGNATHIA(HP:0000210), MYOCLONIC SEIZURES(HP:0002123), TRISMUS(HP:0000211), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), HYDROCEPHALUS(HP:0000238), HYDROPS(HP:0000990), INCREASED RISK FOR MULTIPLE MYELOMA(HP:0006775), DEPRESSION(HP:0000716), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), AGGRESSIVE BEHAVIOR(HP:0000718), PURPURA(HP:0000979), HYPOMETRIC HORIZONTAL SACCADES(HP:0007975), BONE PAIN(HP:0002653), EDEMA(HP:0000969), MICROCEPHALY(HP:0000252), HYPERKERATOSIS(HP:0000962), PETECHIAE(HP:0000967), DEMENTIA(HP:0000726)]
2632	GBE1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), ESOPHAGEAL VARICES(HP:0002040), CARDIOMYOPATHY(HP:0001638), NONPROGRESSIVE DISORDER(HP:0003680), HYDROPS FETALIS(HP:0001789), MUSCULAR HYPOTONIA(HP:0001252), HEPATIC FAILURE(HP:0001399), CIRRHOSIS(HP:0001394), FAILURE TO THRIVE(HP:0001508), ARTHROGRYPOSIS(HP:0001390), HEPATOSPLENOMEGALY(HP:0001433), ARTHROGRYPOSIS MULTIPLEX CONGENITA(HP:0002804), PORTAL HYPERTENSION(HP:0001409), AMYOTROPHY(HP:0003202), HYDROPS(HP:0000990), METABOLISM ABNORMALITY(HP:0001939), ASCITES(HP:0001541), MUSCLE WEAKNESS(HP:0001324), POLYHYDRAMNIOS(HP:0001561), DECREASED FETAL MOVEMENT(HP:0001558), WEAK OR ABSENT DEEP TENDON REFLEXES(HP:0001316)]
2639	GCDH	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KETONEMIA(HP:0003543), MACROCEPHALY(HP:0000256), GLUTARIC ACIDURIA(HP:0003150), OPISTHOTONUS(HP:0002179), MUSCULAR HYPOTONIA(HP:0001252), DILATION OF LATERAL VENTRICLES(HP:0006956), FAILURE TO THRIVE(HP:0001508), CHOREOATHETOSIS(HP:0001266), SPASTIC DIPLEGIA(HP:0001264), SYMMETRICAL PROGRESSIVE DEMYELINATION(HP:0006873), KETONURIA(HP:0002919), INFANTILE ENCEPHALOPATHY(HP:0007105), HEPATOMEGALY(HP:0002240), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), DYSTONIA(HP:0001332)]
2643	GCH1	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE SEVERITY(HP:0003814), FEEDING DIFFICULTIES(HP:0002022), RIGIDITY(HP:0002063), LETHARGY(HP:0001254), SEIZURES(HP:0001250), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), DEVELOPMENTAL RETARDATION(HP:0001263), DYSPHAGIA(HP:0002015), ATYPICAL HYPERPHENYLALANINEMIA(HP:0004922), HYPERPHENYLALANINEMIA(HP:0004923), SEVERE MUSCULAR HYPOTONIA(HP:0006829), CHOREOATHETOSIS(HP:0001266), HYPERTONIA(HP:0001276), ONSET IN INFANCY(HP:0003576), LIMB HYPERTONIA(HP:0002509), IRRITABILITY(HP:0000737), FEVER, EPISODIC(HP:0001954), TREMOR(HP:0001337), ABNORMALITY OF EYE MOVEMENT(HP:0000496), DYSTONIA(HP:0001332), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
2645	GCK	[NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), PROMINENT METOPIC SUTURE(HP:0005487), EARLY ONSET, MILD AND RELATIVELY UNCOMPLICATED COURSE(HP:0003672), DOWNTURNED CORNERS OF MOUTH(HP:0002714), IMMUNOLOGICAL ABNORMALITY(HP:0002715), SMALL, SHORT NOSE(HP:0003192), DEVELOPMENTAL RETARDATION(HP:0001263), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), KETOACIDOSIS(HP:0001993), LOW BIRTH WEIGHT(HP:0001518), INSULIN-DEPENDENT MATURITY-ONSET DIABETES OF THE YOUNG(HP:0004904), BETA-CELL DYSFUNCTION(HP:0006279), LONG PHILTRUM(HP:0000343), HETEROGENEOUS(HP:0001425), CLINODACTYLY OF HANDS(HP:0001157), PERIPHERAL NEUROPATHY(HP:0009830), NARES, ANTEVERTED(HP:0000463), MENTAL RETARDATION DUE TO REPEATED EPISODES OF HYPOGLYCEMIA(HP:0002386), HYPSARRHYTHMIA(HP:0002521), HYPERGLYCEMIA(HP:0003074), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LOSS OF CONSCIOUSNESS(HP:0007185), LIMB CONTRACTURES(HP:0003121), SEIZURES, HYPOGLYCEMIC(HP:0002173), MUSCLE WEAKNESS(HP:0001324), HYPOGLYCEMIC COMA(HP:0001325), ABNORMALITY OF THE EARS(HP:0000598), LATE ONSET(HP:0003584)]
2652	OPN1MW	[PROGRESSIVE MACULAR SCARRING(HP:0007949), ALMOST COMPLETE COLORBLINDNESS EXCEPT ABILITY TO SEE BLUE(HP:0007939), X-LINKED INHERITANCE(HP:0001417), NYSTAGMUS(HP:0000639), POOR COLOR DISCRIMINATION(HP:0007954)]
2653	GCSH	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IRRITABILITY(HP:0000737), HYPERACTIVITY(HP:0000752), HYPERREFLEXIA(HP:0001347), LETHARGY(HP:0001254), MYOCLONUS(HP:0001336), MUSCULAR HYPOTONIA(HP:0001252), NONKETOTIC HYPERGLYCINEMIA(HP:0008288), SEIZURES(HP:0001250), DEATH IN INFANCY(HP:0001522), MENTAL RETARDATION(HP:0001249), AGGRESSIVE BEHAVIOR(HP:0000718), RESTLESSNESS(HP:0000711), HYPOREFLEXIA(HP:0001265), AGENESIS OF CORPUS CALLOSUM(HP:0001274), HYPERGLYCINURIA(HP:0003108)]
2657	GDF1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BROAD FOREHEAD(HP:0000337), PREAURICULAR SINUS(HP:0004467), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TETRALOGY OF FALLOT(HP:0001636), DOUBLE OUTLET RIGHT VENTRICLE(HP:0001719), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), PERSISTANT TRUNCUS ARTERIOSUS(HP:0001660), METABOLISM ABNORMALITY(HP:0001939), PROMINENT EYES(HP:0000536)]
2664	GDI1	[MULTIPLE LOCI(HP:0001461), MENTAL RETARDATION(HP:0001249), X-LINKED INHERITANCE(HP:0001417)]
2668	GDNF	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE MOUTH(HP:0000153), ENTEROCOLITIS(HP:0004387), CONSTIPATION(HP:0002019), ABDOMINAL DISTENTION(HP:0003270), CONGENITAL MEGACOLON(HP:0002251), BARIUM ENEMA SHOWS TRANSITION ZONE BETWEEN AGANGLIONIC CONTRACTED SEGMENT AND DILATED PROXIMAL BOWEL(HP:0002606), LOW-SET EARS(HP:0000369), METABOLISM ABNORMALITY(HP:0001939), NEUROLOGICAL ABNORMALITY(HP:0000707), VOMITING(HP:0002013), POSTERIORLY ROTATED EARS(HP:0000358), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
2670	GFAP	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCREASED CSF PROTEIN(HP:0002922), JUVENILE ONSET(HP:0003621), HYDROCEPHALUS(HP:0000238), ATAXIA(HP:0001251), SEIZURES(HP:0001250), METABOLISM ABNORMALITY(HP:0001939), SPASTICITY(HP:0001257), PSYCHOMOTOR REGRESSION(HP:0002489), ONSET IN ADOLESCENCE(HP:0003590), DIFFUSE DEMYELINATION(HP:0006881), MACROCEPHALY, PROGRESSIVE(HP:0004481), BULBAR SIGNS(HP:0002483), ONSET IN INFANCY(HP:0003576), ONSET IN CHILDHOOD(HP:0003578)]
2677	GGCX	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NASAL HYPOPLASIA(HP:0003196), HEMARTHROSES(HP:0001391), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), EPISTAXIS(HP:0000421), PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), STIPPLING OF THE EPIPHYSES(HP:0010655), NEONATAL BLEEDING TENDENCY(HP:0004830), ECCHYMOSES(HP:0000978)]
2683	B4GALT1	[DANDY-WALKER MALFORMATION(HP:0001305), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MACROCEPHALY(HP:0000256), MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), DEVELOPMENTAL RETARDATION(HP:0001263), INCREASED SERUM CREATINE KINASE(HP:0002147), ABNORMALITY OF COAGULATION(HP:0001928)]
2688	GH1	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE FACE(HP:0000271), HYPOGLYCEMIA(HP:0001943), IMMUNOLOGICAL ABNORMALITY(HP:0002715), ISOLATED GROWTH HORMONE DEFICIENCY(HP:0000861), PITUITARY DWARFISM(HP:0000839), DWARFISM(HP:0001516)]
2690	GHR	[SMALL FACE(HP:0000274), METABOLISM ABNORMALITY(HP:0001939), MARKED DELAY IN BONE AGE(HP:0003799), ENDOCRINE ABNORMALITY(HP:0000818), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE JOINTS(HP:0001367), HYPOPLASIA INVOLVING BONES OF THE EXTREMITIES(HP:0009826), DECREASED BODY HEIGHT(HP:0004322), GENITOURINARY ABNORMALITY(HP:0000119), BLUE SCLERAE(HP:0000592), HIGH PITCHED VOICE(HP:0001620)]
2693	GHSR	[DECREASED BODY HEIGHT(HP:0004322)]
2694	GIF	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PARESTHESIA(HP:0003401), ABSENCE OF INTRINSIC FACTOR BY IMMUNOASSAY OF GASTRIC JUICES(HP:0005219), SENSORY IMPAIRMENT(HP:0003474), MEGALOBLASTIC ANEMIA(HP:0001889), MALABSORPTION(HP:0002024), METABOLISM ABNORMALITY(HP:0001939), IMMUNOLOGICAL ABNORMALITY(HP:0002715), ERYTHROCYTE MACROCYTOSIS(HP:0005518), ONSET IN CHILDHOOD(HP:0003578)]
2695	GIP	[CUSHING SYNDROME(HP:0000850), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
2697	GJA1	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERACTIVE DEEP TENDON REFLEXES(HP:0006801), SCAPHOCEPHALY(HP:0000258), MACROCEPHALY(HP:0000256), OSTIUM PRIMUM ATRIAL SEPTAL DEFECT(HP:0010445), ATRIOVENTRICULAR SEPTAL DEFECT(HP:0010439), CRYPTORCHIDISM(HP:0000028), 3-4 TOE SYNDACTYLY(HP:0009779), MICROPHTHALMOS(HP:0000568), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CATARACT(HP:0000518), THIN HAIR(HP:0002237), PROMINENT EPICANTHAL FOLDS(HP:0007930), HYPOPLASTIC LEFT HEART(HP:0004383), SPARSE EYEBROWS(HP:0000535), CUBITUS VALGUS(HP:0002967), JOINT HYPERMOBILITY(HP:0001382), PLATYBASIA(HP:0002691), CHOROID COLOBOMA(HP:0000611), THIN RIBS(HP:0000883), IRIS COLOBOMA(HP:0000612), ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500), ALL CASES SPORADIC(HP:0003769), SELECTIVE TOOTH AGENESIS(HP:0001592), THIN, GRACILE LONG BONES(HP:0003060), NYSTAGMUS(HP:0000639), METAPHYSEAL WIDENING(HP:0003016), TRACHEOMALACIA(HP:0002779), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), OPTIC NERVE COLOBOMA(HP:0000588), SPARSE, FINE HAIR(HP:0002291), BLUE SCLERAE(HP:0000592), PROPORTIONATE SHORT STATURE(HP:0003508), DECREASED NUMBER OF STERNAL OSSIFICATION CENTERS(HP:0006611), TETRAPARESIS(HP:0002273), DRY SKIN(HP:0000958), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), TAURODONTIA(HP:0000679), HEARING LOSS, CONDUCTIVE(HP:0000405), SUPERNUMERARY TEETH(HP:0000672), OBSTRUCTIVE SLEEP APNEA(HP:0002870), HIGH-ARCHED PALATE(HP:0000156), MISSHAPEN TEETH(HP:0000697), NEONATAL TEETH(HP:0000695), MICRODONTIA(HP:0000691), DENTAL MALOCCLUSION(HP:0000689), HYPOTRICHOSIS OF THE SCALP(HP:0004782), SPARSE EYELASHES(HP:0000653), CLEFT PALATE(HP:0000175), ATAXIA(HP:0001251), FRONTAL BOSSING(HP:0002007), NARROW NASAL BRIDGE(HP:0000446), MENTAL RETARDATION(HP:0001249), JOINT CONTRACTURES OF THE 5TH FINGER(HP:0009183), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), MICROSTOMIA(HP:0000160), DYSARTHRIA(HP:0001260), SPARSE, SLOW-GROWING HAIR(HP:0004770), DISLOCATED HIPS(HP:0002827), SPASTICITY(HP:0001257), TRICUSPID AND MITRAL VALVES ARE REPLACED BY A SINGLE INLET VALVE(HP:0006695), BROAD ALVEOLAR RIDGES(HP:0000187), CARIOUS TEETH(HP:0000670), CHOREOATHETOSIS(HP:0001266), THIN ANTEVERTED NARES(HP:0004495), VERTEBRAL HYPEROSTOSIS(HP:0008442), HYPOPLASTIC NASAL ALAE(HP:0000430), LOW BIRTH WEIGHT(HP:0001518), RECURRENT PNEUMONIA(HP:0002095), PULMONARY HYPERTENSION(HP:0002092), DERMAL ATROPHY(HP:0004334), CLEFT LIP(HP:0000204), BASAL GANGLIA CALCIFICATION(HP:0002135), TELANGIECTASIA(HP:0001009), SOFT TISSUE SYNDACTYLY OF TOES 2, 3, AND 4(HP:0005768), FIFTH FINGER DISTAL PHALANX CLINODACTYLY(HP:0005769), NARROW NOSE(HP:0000460), PECTUS EXCAVATUM(HP:0000767), PARAPARESIS(HP:0002385), THIN LIPS(HP:0000213), LORDOSIS(HP:0002939), HYPERACTIVITY(HP:0000752), EPIDERMOLYTIC HYPERKERATOSIS(HP:0007475), SMALL, POINTED NOSE(HP:0000450), MICROGNATHIA(HP:0000210), ISOLATED CASES(HP:0001420), HEART BLOCK(HP:0001668), WORMIAN BONES(HP:0002645), METABOLISM ABNORMALITY(HP:0001939), TELECANTHUS(HP:0000506), AUTOSOMAL DOMINANT WITH VARIABLE EXPRESSION AND INCOMPLETE PENETRANCE(HP:0001463), EVERTED LOWER LIP(HP:0000232), THIN CALVARIUM(HP:0010539), GLAUCOMA(HP:0000501), SPINA BIFIDA(HP:0002414), SCOLIOSIS(HP:0002650), PALMOPLANTAR KERATODERMA(HP:0000982), SHORT 5TH FINGER WITH ABSENT/RUDIMENTARY MIDDLE PHALANX(HP:0005813), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), BRACHYCEPHALY(HP:0000248), PREMATURE LOSS OF TEETH(HP:0006480), ALSO A DOMINANT FORM(HP:0001448), CYANOSIS(HP:0000961), STRABISMUS(HP:0000486), PARIETAL BOSSING(HP:0000242), MICROCORNEA(HP:0000482)]
2702	GJA5	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ATRIAL FIBRILLATION, ISOLATED(HP:0001715), THROMBOEMBOLIC STROKE MAY OCCUR(HP:0001727), TACHYCARDIA(HP:0001649), IRREGULAR HEART BEAT(HP:0001721)]
2703	GJA8	[IRIS COLOBOMA(HP:0000612), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), NUCLEAR CATARACT(HP:0100018), CONGENITAL CATARACT(HP:0000519), SCLEROCORNEA(HP:0000647), PETERS ANOMALY(HP:0000659), MICROCORNEA(HP:0000482)]
2705	GJB1	[PES CAVUS(HP:0001761), INCOMPLETE PENETRANCE(HP:0003829), ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500), AXONAL DEGENERATION(HP:0000764), PARAPARESIS(HP:0002385), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), X-LINKED DOMINANT INHERITANCE(HP:0001423), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003431), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), HYPOREFLEXIA(HP:0001265), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), MOTOR APHASIA(HP:0002427)]
2706	GJB2	[PES CAVUS(HP:0001761), AMNIOTIC BANDS(HP:0009775), KERATOCONJUNCTIVITIS SICCA(HP:0001097), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ICHTHYOSIS(HP:0000955), ORAL LEUKOPLAKIA(HP:0002745), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), SQUAMOUS CELL CARCINOMA(HP:0002860), DEAFNESS(HP:0000404), KNEE CONTRACTURES(HP:0002978), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), NAIL DYSTROPHY, VARIABLE(HP:0008404), TRICHIASIS(HP:0001128), HIGH, NARROW FOREHEAD(HP:0004674), PHOTOPHOBIA(HP:0000613), BLINDNESS(HP:0000618), AUTOAMPUTATION OF DIGITS(HP:0007460), FURROWED TONGUE(HP:0000221), CONGENITAL ICHTHYOSIS(HP:0007484), LEUKONYCHIA(HP:0001820), RECURRENT BACTERIAL SKIN INFECTIONS(HP:0005406), RECURRENT CORNEAL EROSIONS(HP:0000495), KERATITIS(HP:0000491), PALMOPLANTAR HYPERKERATOSIS(HP:0000972), SCANT EYELASHES(HP:0007853), HYPOHIDROSIS(HP:0000966)]
2707	GJB3	[PALMOPLANTAR KERATODERMA, PATCHY(HP:0005588), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ERYTHEMA(HP:0010783), HYPERKERATOSIS, GENERALIZED(HP:0005595), ONSET IN INFANCY(HP:0003576)]
2710	GK	[ESOTROPIA(HP:0000565), OSTEOPOROSIS(HP:0000939), X-LINKED INHERITANCE(HP:0001417), METABOLIC ACIDOSIS(HP:0001942), MYOPATHY(HP:0003198), MENTAL RETARDATION(HP:0001249), COMA(HP:0001259), GROWTH RETARDATION(HP:0001510), ADRENOCORTICAL HYPOPLASIA(HP:0008182), EPISODIC VOMITING(HP:0002572), ADRENAL INSUFFICIENCY(HP:0000846), PATHOLOGIC FRACTURE(HP:0002756)]
2717	GLA	[DELAYED PUBERTY(HP:0000823), HYPERTENSION(HP:0000822), PARESTHESIA(HP:0003401), CONGESTIVE HEART FAILURE(HP:0001635), MUSCLE CRAMPS(HP:0003394), MYOCARDIAL INFARCTION(HP:0001658), NAUSEA(HP:0002018), TRANSIENT ISCHEMIC ATTACK(HP:0002326), ANEMIA(HP:0001903), ABDOMINAL PAIN(HP:0002027), SEIZURES(HP:0001250), CORNEAL DYSTROPHY(HP:0001131), DIARRHEA(HP:0002014), VOMITING(HP:0002013), ABNORMALITY OF THE HAND(HP:0001155), FASCICULATIONS(HP:0002380), ANGIOKERATOMA(HP:0001014), MILD OBSTRUCTIVE LUNG DISEASE(HP:0006512), AUTONOMIC DYSFUNCTION(HP:0002387), LYMPHEDEMA(HP:0001004), RENAL FAILURE(HP:0000083), X-LINKED RECESSIVE INHERITANCE(HP:0001419), PROTEINURIA(HP:0000093), LEFT VENTRICULAR WALL HYPERTROPHY(HP:0005171), ONSET USUALLY IN CHILDHOOD OR ADOLESCENCE(HP:0003620), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), LEFT VENTRICULAR SEPTAL HYPERTROPHY(HP:0005144), ANGINA PECTORIS(HP:0001681), HYPOHIDROSIS(HP:0000966)]
2719	GPC3	[PULMONIC STENOSIS(HP:0001642), TALIPES EQUINOVARUS(HP:0001762), PATENT DUCTUS ARTERIOSUS(HP:0001643), NARROW SACROILIAC NOTCH(HP:0008803), ACCELERATED SKELETAL MATURATION(HP:0005616), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COARSE FACIAL FEATURES(HP:0000280), CARDIOMYOPATHY(HP:0001638), EPICANTHUS(HP:0000286), SHORT, BROAD FEET(HP:0001773), NARROW SACROILIAC NOTCHES IN INFANCY(HP:0008815), FLARED ILIAC WINGS(HP:0002869), VERTEBRAL SEGMENTATION DEFECTS(HP:0003422), MACROCEPHALY(HP:0000256), TWO CARPAL OSSIFICATION CENTERS PRESENT AT BIRTH(HP:0006176), 2-3 FINGER SYNDACTYLY(HP:0001233), MACROGLOSSIA(HP:0000158), INGUINAL HERNIA(HP:0000023), PREAURICULAR SKIN TAG(HP:0000384), CRYPTORCHIDISM(HP:0000028), DENTAL MALOCCLUSION(HP:0000689), BROAD PHALANGES OF THE THUMB(HP:0009651), NASAL HYPOPLASIA(HP:0003196), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), ISLETS OF LANGERHANS HYPERPLASIA(HP:0004510), HYPERTELORISM(HP:0000316), SIX LUMBAR VERTEBRAE(HP:0008416), HYPOSPADIAS(HP:0000047), FLAT, BROAD NASAL BRIDGE(HP:0000439), SPLENOMEGALY(HP:0001744), UPTURNED NOSE(HP:0000427), INTESTINAL MALROTATION(HP:0002566), POLYSPLENIA(HP:0001748), VENTRICULAR SEPTAL DEFECT(HP:0001629), DISHARMONIOUS CARPAL BONE(HP:0006153), DUPLICATION OF RENAL PELVIS(HP:0005580), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), AGENESIS OF CORPUS CALLOSUM(HP:0001274), DIAPHRAGMATIC HERNIA(HP:0000776), MACROSTOMIA(HP:0000181), HETEROGENEOUS(HP:0001425), SOMATIC MUTATION(HP:0001428), PREAURICULAR SINUS(HP:0004467), CERVICAL RIBS(HP:0000891), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), BROAD TOES(HP:0001837), BROAD SECONDARY ALVEOLAR RIDGE(HP:0000216), PECTUS EXCAVATUM(HP:0000767), SHORT BROAD HANDS(HP:0001174), X-LINKED RECESSIVE INHERITANCE(HP:0001419), MECKEL DIVERTICULUM(HP:0002245), LUNG SEGMENTATION DEFECTS(HP:0006525), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), HEPATOMEGALY(HP:0002240), TRANSPOSITION OF THE GREAT VESSELS(HP:0001669), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), DIASTASIS RECTI(HP:0001540), SCOLIOSIS(HP:0002650), RENAL CYSTS(HP:0000107), UMBILICAL HERNIA(HP:0001537), ENLARGED KIDNEYS(HP:0000105), SUBMUCOUS CLEFT LIP(HP:0009101), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), EMBRYONAL TUMORS(HP:0002898), SUPERNUMERARY NIPPLES(HP:0002558), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), HEARING LOSS(HP:0000365), BIRTH LENGTH GREATER THAN 97TH PERCENTILE(HP:0003517), NAIL HYPOPLASIA(HP:0001792)]
2720	GLB1	[DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), MILDLY COARSE FACIES(HP:0000281), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), INGUINAL HERNIA(HP:0000023), CONSTRICTED ILIAC WINGS(HP:0003277), SLURRED SPEECH(HP:0001350), AORTIC STENOSIS(HP:0001650), HYPOPLASTIC ACETABULAE(HP:0003274), CHERRY RED SPOT OF THE MACULA(HP:0010729), CORNEAL CLOUDING(HP:0000515), BETA-GALACTOSIDASE DEFICIENCY IN FIBROBLASTS AND WHITE BLOOD CELLS(HP:0008300), MILD HEPATOMEGALY(HP:0001398), HYPERTELORISM(HP:0000316), JOINT LAXITY(HP:0001388), OVOID VERTEBRAL BODIES(HP:0003300), JOINT STIFFNESS(HP:0001387), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), CERVICAL SUBLUXATION(HP:0003308), HYPERLORDOSIS(HP:0003307), MANDIBULAR PROGNATHIA(HP:0000303), ULNAR DEVIATION OF THE WRIST(HP:0003049), SPASTIC TETRAPLEGIA(HP:0002510), KYPHOSIS(HP:0002808), BROAD RIBS(HP:0000885), EPIPHYSEAL DEFORMITIES OF TUBULAR BONES(HP:0003053), PROMINENT STERNUM(HP:0000884), ABNORMALITY OF THE URINARY TRACT(HP:0000079), HYPOPLASTIC VERTEBRAL BODIES(HP:0008479), GAIT DISTURBANCE(HP:0001288), AMYOTROPHY(HP:0003202), FULL FOREHEAD(HP:0000333), CEREBRAL DEGENERATION(HP:0007313), METAPHYSEAL WIDENING(HP:0003016), ANGIOKERATOMA CORPORIS DIFFUSUM(HP:0001071), SHORT-TRUNKED DWARFISM(HP:0003500), DYSTONIA(HP:0001332), HEARING LOSS(HP:0000365), WIDELY SPACED TEETH(HP:0000687), POINTED PROXIMAL SECOND THROUGH FIFTH METACARPALS(HP:0001223), GRAYISH ENAMEL(HP:0000683), CERVICAL MYELOPATHY(HP:0002318), GENU VALGUM(HP:0002857), DEVELOPMENTAL ARREST(HP:0007281), FLARED ILIAC WINGS(HP:0002869), WIDE MOUTH(HP:0000154), OSTEOPOROSIS(HP:0000939), PROGRESSIVE PSYCHOMOTOR DETERIORATION(HP:0007272), MILD ANTERIOR BEAKING OF LUMBAR VERTEBRAE(HP:0008430), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), DEATH IN INFANCY(HP:0001522), FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740), CEREBRAL ATROPHY, MILD, DIFFUSE(HP:0006954), MENTAL RETARDATION, MILD(HP:0001256), SPLENOMEGALY(HP:0001744), CARIOUS TEETH(HP:0000670), FLARING OF RIB CAGE(HP:0000904), RESTRICTIVE LUNG DISEASE(HP:0002091), COXA VALGA(HP:0002673), SHORT NECK(HP:0000470), 'SEA-BLUE' HISTIOCYTES(HP:0001982), INTIMAL THICKENING IN THE CORONARY ARTERIES(HP:0005292), VENTRICULOMEGALY(HP:0002119), FLAT NOSE(HP:0000457), ONSET BETWEEN 1-3 YEARS(HP:0003625), GINGIVAL HYPERPLASIA(HP:0000212), MILD PLATYSPONDYLY(HP:0002940), MYOCLONIC SEIZURES(HP:0002123), HYPERTRICHOSIS(HP:0000998), DEVELOPMENTAL ARREST, 2ND YEAR OF LIFE(HP:0007198), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), SCOLIOSIS(HP:0002650), VACUOLATED LYMPHOCYTES(HP:0001922)]
2729	GCLC	[MYOPATHY(HP:0003198), LATE-ONSET SPINOCEREBELLAR DEGENERATION(HP:0006904), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEMOLYTIC ANEMIA(HP:0001878), POLYNEUROPATHY(HP:0001271)]
2731	GLDC	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IRRITABILITY(HP:0000737), HYPERACTIVITY(HP:0000752), HYPERREFLEXIA(HP:0001347), LETHARGY(HP:0001254), MYOCLONUS(HP:0001336), MUSCULAR HYPOTONIA(HP:0001252), NONKETOTIC HYPERGLYCINEMIA(HP:0008288), SEIZURES(HP:0001250), DEATH IN INFANCY(HP:0001522), MENTAL RETARDATION(HP:0001249), AGGRESSIVE BEHAVIOR(HP:0000718), RESTLESSNESS(HP:0000711), HYPOREFLEXIA(HP:0001265), AGENESIS OF CORPUS CALLOSUM(HP:0001274), HYPERGLYCINURIA(HP:0003108)]
2733	GLE1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL DEATH(HP:0003811), PAUCITY OF ANTERIOR HORN MOTOR NEURONS(HP:0007277), AMYOTROPHY(HP:0003202), ABNORMALITY OF THE THORAX(HP:0000765), MUSCLE HYPOPLASIA(HP:0009004), MICROGNATHIA(HP:0000210), HYDROPS(HP:0000990), WIDENING OF CERVICAL SPINAL CANAL(HP:0004571), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560), PULMONARY HYPOPLASIA(HP:0002089)]
2737	GLI3	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VARIABLE EXPRESSIVITY(HP:0003828), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL DEATH(HP:0003811), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), THYROID DYSPLASIA/APLASIA(HP:0008188), LARYNGEAL CLEFT(HP:0008751), BIFID OR HYPOPLASTIC EPIGLOTTIS(HP:0008746), MIDLINE FACIAL CAPILLARY HEMANGIOMA(HP:0007601), ECTOPIC KIDNEY(HP:0000086), RENAL HYPOPLASIA(HP:0000089), NYSTAGMUS(HP:0000639), HYPOCORTISOLEMIA(HP:0008220), DISTAL URETHRAL DUPLICATION(HP:0008706), RENAL CYSTS(HP:0000107), UMBILICAL HERNIA(HP:0001537), DECREASED TESTICULAR SIZE(HP:0008734), HYPOPLASTIC TEETH(HP:0000685), 3-4 FINGER SYNDACTYLY(HP:0006097), ACCELERATED SKELETAL MATURATION(HP:0005616), HIGH-ARCHED PALATE(HP:0000156), NEONATAL TEETH(HP:0000695), MICROGLOSSIA(HP:0000171), DISTAL SHORTENING OF LIMBS(HP:0006402), NASAL HYPOPLASIA(HP:0003196), CLEFT PALATE(HP:0000175), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), ABNORMAL LUNG LOBATION(HP:0002101), MENTAL RETARDATION, MILD(HP:0001256), AGENESIS OF CORPUS CALLOSUM(HP:0001274), CLEFT LIP(HP:0000204), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), Y-SHAPED METACARPALS(HP:0006042), OPEN MOUTH(HP:0000194), THIN LIPS(HP:0000213), HYPERGLYCEMIA(HP:0003074), TAPERED FINGERS(HP:0001182), HYDROCEPHALUS(HP:0000238), NAIL DYSPLASIA(HP:0002164), PARTIAL/COMPLETE DUPLICATION OF PHALANGES OF THE THUMB(HP:0009942), HYPOPLASTIC/SHORT 4TH METACARPAL(HP:0010044), HYPOTHALAMIC HAMARTOMA(HP:0002444), CRANIOSYNOSTOSIS(HP:0001363), GROWTH HORMONE DEFICIENCY(HP:0000824), EPICANTHUS(HP:0000286), PRECOCIOUS PUBERTY(HP:0000826), MACROCEPHALY(HP:0000256), 1-5 TOE SYNDACTYLY(HP:0010713), WIDE ANTERIOR FONTANEL(HP:0000260), DELAYED CLOSURE OF FONTANELLES(HP:0000270), MICRORETROGNATHIA(HP:0000308), HYPERTELORISM(HP:0000316), FLAT PHILTRUM(HP:0000319), LONG PHILTRUM(HP:0000343), RADIAL HEAD SUBLUXATION(HP:0003048), BROAD FOREHEAD(HP:0000337), HIGH FOREHEAD(HP:0000348), GENERALIZED HYPOTONIA(HP:0001290), CAMPTODACTYLY (FEET)(HP:0001836), SHORT PHILTRUM(HP:0000322), PANHYPOPITUITARISM(HP:0000871), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), PARTIAL/COMPLETE DUPLICATION OF THE PHALANGES OF THE HALLUX(HP:0010066), ADRENAL HYPOPLASIA(HP:0000835), POSTERIORLY ROTATED EARS(HP:0000358), BROAD PHALANGES OF THE HALLUX(HP:0010059), DYSPLASTIC DISTAL THUMB PHALANGES WITH A CENTRAL HOLE(HP:0005688), PROXIMAL AORTIC COARCTATION(HP:0005151), HEARING LOSS(HP:0000365), BROAD HALLUX(HP:0010055), ABNORMALITY OF EAR LOBES(HP:0000363), EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), CAMPTODACTYLY (HANDS)(HP:0010563), MICROTIA(HP:0000393), CYSTIC MALFORMATIONS AFFECTING THE CENTRAL NERVOUS SYSTEM(HP:0010576), ANAL ATRESIA(HP:0002023), PREAURICULAR SKIN TAG(HP:0000384), BROAD PHALANGES OF THE THUMB(HP:0009651), DISLOCATED HIPS(HP:0002827), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), BROAD NASAL ROOT(HP:0000424), CENTRAL POLYDACTYLY (FEET)(HP:0010112), BROAD NASAL BRIDGE(HP:0000431), RIB FUSION(HP:0000902), CENTRAL POLYDACTYLY (HANDS)(HP:0006159), HETEROGENEOUS(HP:0001425), NARES, ANTEVERTED(HP:0000463), HIRSUTISM(HP:0001007), HEMIVERTEBRAE(HP:0002937), 1-3 TOE SYNDACTYLY(HP:0001459), ABNORMALITY OF MUSCLE FIBERS(HP:0004303), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
2741	GLRA1	[HYPOKINESIA(HP:0002375), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXAGGERATED STARTLE RESPONSE(HP:0002267), HYPERTONICITY(HP:0002388), INGUINAL HERNIA(HP:0000023), MYOCLONUS(HP:0001336), SEIZURES(HP:0001250), APNEA(HP:0002104), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), UMBILICAL HERNIA(HP:0001537), DISLOCATED HIPS(HP:0002827), ASPIRATION(HP:0002835), FREQUENT FALLS(HP:0002359), ONSET IN INFANCY(HP:0003576)]
2743	GLRB	[HYPOKINESIA(HP:0002375), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXAGGERATED STARTLE RESPONSE(HP:0002267), HYPERTONICITY(HP:0002388), INGUINAL HERNIA(HP:0000023), MYOCLONUS(HP:0001336), SEIZURES(HP:0001250), APNEA(HP:0002104), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), UMBILICAL HERNIA(HP:0001537), DISLOCATED HIPS(HP:0002827), ASPIRATION(HP:0002835), FREQUENT FALLS(HP:0002359), ONSET IN INFANCY(HP:0003576)]
2746	GLUD1	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), MENTAL RETARDATION DUE TO REPEATED EPISODES OF HYPOGLYCEMIA(HP:0002386), HYPOGLYCEMIA(HP:0001943), HYPERAMMONEMIA, ASYMPTOMATIC(HP:0008162), AGE OF ONSET(HP:0003674), LOSS OF CONSCIOUSNESS(HP:0007185), SEIZURES, HYPOGLYCEMIC(HP:0002173), HYPOGLYCEMIC COMA(HP:0001325)]
2760	GM2A	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXAGGERATED STARTLE RESPONSE(HP:0002267), BLINDNESS(HP:0000618), PARALYSIS(HP:0003470), APATHY(HP:0000741), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), GM2-GANGLIOSIDE ACCUMULATION(HP:0003495), POOR HEAD CONTROL(HP:0002421), ASPIRATION(HP:0002835), HYPERTONIA(HP:0001276), DEMENTIA(HP:0000726)]
2771	GNAI2	[PAROXYSMAL VENTRICULAR TACHYCARDIA(HP:0004751), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645)]
2778	GNAS	[HYPOTHYROIDISM(HP:0000821), PRECOCIOUS PUBERTY(HP:0000826), VARIABLE SEVERITY(HP:0003814), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), POLYOSTOTIC FIBROUS DYSPLASIA(HP:0010735), CATARACT(HP:0000518), ROUND FACE(HP:0000311), FULL CHEEKS(HP:0000293), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), ONSET IN INFANCY OR CHILDHOOD(HP:0003583), LOW URINARY CYCLIC AMP RESPONSE TO PTH ADMINISTRATION(HP:0003456), BLINDNESS(HP:0000618), HYPOCALCEMIC TETANY(HP:0003472), FACIAL ASYMMETRY(HP:0000324), HYPERPROLACTINEMIA(HP:0000870), BRACHYDACTYLY (FEET)(HP:0001831), NYSTAGMUS(HP:0000639), HYPOPLASIA OF THE TOES(HP:0004701), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), CUSHING SYNDROME(HP:0000850), PSEUDOHYPOPARATHYROIDISM(HP:0000852), ABNORMALITY OF MUSCULATURE(HP:0003011), HYPERTHYROIDISM(HP:0000836), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), HYPERPARATHYROIDISM(HP:0000843), PATHOLOGIC FRACTURE(HP:0002756), ACROMEGALY(HP:0000845), ELEVATED SERUM PARATHYROID HORMONE (PTH) LEVEL(HP:0003165), DELAYED DENTITION(HP:0000684), HYPOGONADISM(HP:0000135), DEAFNESS(HP:0000404), LARGE CAFE AU LAIT SPOTS WITHIN IRREGULAR MARGINS(HP:0005605), OSTEOPOROSIS(HP:0000939), COGNITIVE DEFICITS(HP:0002337), SEIZURES(HP:0001250), PROGRESSIVE DISORDER(HP:0003676), CHOROID PLEXUS CALCIFICATION(HP:0006960), LOW NASAL BRIDGE(HP:0000428), CRANIOFACIAL HYPEROSTOSIS(HP:0004493), OBESITY(HP:0001513), HYPOKINESIA(HP:0002375), BASAL GANGLIA CALCIFICATION(HP:0002135), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), THICKENED CALVARIA(HP:0002684), ISOLATED CASES(HP:0001420), PITUITARY ADENOMA(HP:0002893), SOMATIC MOSAICISM(HP:0001442), HYPOCALCEMIA(HP:0002901), HYPERPHOSPHATEMIA(HP:0002905), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
2796	GNRH1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPITUITARISM(HP:0000830), PITUITARY GONADOTROPIN DEFICIENCY(HP:0008213), HYPOGONADISM, MALE(HP:0000026), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), METABOLISM ABNORMALITY(HP:0001939), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), ABSENCE OF SECONDARY SEX CHARACTERISTICS(HP:0008187)]
2798	GNRHR	[ANDROGEN INSUFFICIENCY(HP:0008226), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
2799	GNS	[JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILDLY COARSE FACIES(HP:0000281), SEVERE BEHAVIORAL PROBLEMS AT AGE 3-4(HP:0002456), THICK EYEBROWS(HP:0000574), MILD HEPATOMEGALY(HP:0001398), OVOID THORACOLUMBAR VERTEBRAE(HP:0003309), COARSE HAIR(HP:0002208), LOW-SET EARS(HP:0000369), MILD JOINT STIFFNESS(HP:0003033), HEARING LOSS(HP:0000365), DROOLING(HP:0002307), DYSOSTOSIS MULTIPLEX(HP:0000943), WIDE MOUTH(HP:0000154), FULL LIPS(HP:0000170), FRONTAL BOSSING(HP:0002007), SEIZURES(HP:0001250), PROGRESSIVE DISORDER(HP:0003676), DYSARTHRIA(HP:0001260), DIARRHEA(HP:0002014), FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740), DYSPHAGIA(HP:0002015), FLATTENED NASAL BRIDGE(HP:0000425), MILD SPLENOMEGALY(HP:0001745), SYNOPHRYS(HP:0000664), GROWTH ABNORMALITY(HP:0001507), SLEEP DISTURBANCES(HP:0002360), THICKENED RIBS(HP:0000900), METACHROMASIA OF WHITE BLOOD CELLS AND FIBROBLASTS(HP:0003653), SHORT NECK(HP:0000470), NARES, ANTEVERTED(HP:0000463), HIRSUTISM(HP:0001007), HYPERACTIVITY(HP:0000752), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), SLOWING MENTAL DEVELOPMENT BY 1.5 TO 3 YEARS OF AGE(HP:0002402), HEPARAN SULFATE EXCRETION IN URINE(HP:0002159)]
2811	GP1BA	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD THROMBOCYTOPENIA(HP:0001906), MENORRHAGIA(HP:0000132), PROLONGED BLEEDING AFTER DENTAL EXTRACTION(HP:0006298), HEMOLYTIC ANEMIA(HP:0001878), ABNORMALITY OF THE TEETH(HP:0000164), MILD SPLENOMEGALY(HP:0001745), EPISTAXIS(HP:0000421), ECCHYMOSES(HP:0000978), STOMATOCYTOSIS(HP:0004446), CONGENITAL BLEEDING DIATHESIS(HP:0004834), PURPURA(HP:0000979), PROLONGED BLEEDING TIME(HP:0003010), GINGIVAL BLEEDING(HP:0000225), PETECHIAE(HP:0000967), INTERMITTENT THROMBOCYTOPENIA(HP:0004854)]
2812	GP1BB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD THROMBOCYTOPENIA(HP:0001906), ABNORMALITY OF THE ABDOMEN(HP:0001438), MENORRHAGIA(HP:0000132), CONGENITAL BLEEDING DIATHESIS(HP:0004834), PURPURA(HP:0000979), PROLONGED BLEEDING TIME(HP:0003010), EPISTAXIS(HP:0000421)]
2815	GP9	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD THROMBOCYTOPENIA(HP:0001906), ABNORMALITY OF THE ABDOMEN(HP:0001438), MENORRHAGIA(HP:0000132), CONGENITAL BLEEDING DIATHESIS(HP:0004834), PURPURA(HP:0000979), PROLONGED BLEEDING TIME(HP:0003010), EPISTAXIS(HP:0000421)]
2821	GPI	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CEREBELLAR ATAXIA(HP:0001253), MENTAL RETARDATION(HP:0001249), SPONTANEOUS HEMOLYTIC CRISES(HP:0005525), SPLENOMEGALY(HP:0001744), CHOLECYSTITIS(HP:0001082), STILLBIRTH(HP:0001624), CHOLELITHIASIS(HP:0001081), MUSCLE WEAKNESS(HP:0001324), GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY(HP:0003568), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
2876	GPX1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL HYPERBILIRUBINEMIA(HP:0003265), COMPENSATED HEMOLYTIC ANEMIA(HP:0004863)]
2896	GRN	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), APRAXIA(HP:0002186), PROGRESSIVE LANGUAGE DETERIORATION(HP:0007064), MEMORY LOSS(HP:0002081), DYSPHASIA(HP:0002357), PERSONALITY CHANGES(HP:0000751), HALLUCINATIONS(HP:0000738), APATHY(HP:0000741), PARKINSONISM(HP:0001300), GRADUAL ONSET OF COGNITIVE IMPAIRMENT(HP:0007211), MEAN AGE OF ONSET 18 YEARS(HP:0003628), CEREBRAL CORTICAL ATROPHY(HP:0002120), REPETITIVE COMPULSIVE BEHAVIOR(HP:0008762), AGITATION(HP:0000713), MUTISM(HP:0002300), NEURONAL LOSS(HP:0002400), INAPPROPRIATE BEHAVIOR(HP:0000719), GLIOSIS(HP:0002171), RESTLESSNESS(HP:0000711), HYPERORALITY(HP:0000710), DISINHIBITION(HP:0000734), FRONTOTEMPORAL DEMENTIA(HP:0002145), HYPERPHAGIA(HP:0000724), ENLARGED LATERAL VENTRICLES(HP:0007173), MOTOR APHASIA(HP:0002427)]
2908	NR3C1	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOKALEMIC ALKALOSIS(HP:0001949)]
2916	GRM6	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), NIGHT BLINDNESS(HP:0000662)]
2925	GRPR	[X-LINKED INHERITANCE(HP:0001417)]
2934	GSN	[GENERALIZED AMYLOID DEPOSITION(HP:0003216), NEUROPATHY(HP:0003407), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PERIPHERAL POLYNEUROPATHY, ESP VIBRATION AND TOUCH LOSS(HP:0007287), ABNORMALITY OF THE ABDOMEN(HP:0001438), CARDIOMYOPATHY(HP:0001638), RENAL FAILURE(HP:0000083), BULBAR PALSY(HP:0001283), NEPHROTIC SYNDROME(HP:0000100), LATTICE CORNEAL DYSTROPHY(HP:0001149), CUTIS LAXA(HP:0000973), ONSET IN THIRD DECADE(HP:0003585)]
2936	GSR	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEMOLYTIC ANEMIA(HP:0001878)]
2937	GSS	[INCREASED HEMOLYSIS(HP:0005503), GLUTATHIONE SYNTHETASE DEFICIENCY(HP:0003343), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD HEMOLYTIC ANEMIA(HP:0001910), ABNORMAL URINARY AMINO-ACID FINDINGS(HP:0003355), SPASTIC TETRAPARESIS(HP:0001285), PERIPHERAL RETINAL PIGMENTATION ABNORMALITIES(HP:0007741), ATAXIA(HP:0001251), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), GLYOXALASE DEFICIENCY(HP:0003258), NEUTROPENIA(HP:0001875), DYSARTHRIA(HP:0001260), MILD ANEMIA(HP:0001926), INTENTION TREMOR(HP:0002080), CHRONIC METABOLIC ACIDOSIS(HP:0001996)]
2956	MSH6	[CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTED MACULES(HP:0001034), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438), LEUKEMIA(HP:0001909), RHABDOMYOSARCOMA(HP:0002859), NEUROBLASTOMA(HP:0003006), LYMPHOMA(HP:0002665), AXILLARY FRECKLING(HP:0000997), BASAL CELL CARCINOMA(HP:0002671), MEDULLOBLASTOMA(HP:0002885), ASTROCYTOMA(HP:0009592), EPENDYMOMA(HP:0002888)]
2978	GUCA1A	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PHOTOPHOBIA(HP:0000613)]
2989	GULOP	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
2990	GUSB	[JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ACETABULAR DYSPLASIA(HP:0008807), COARSE FACIAL FEATURES(HP:0000280), MACROCEPHALY(HP:0000256), DERMATAN AND HEPARAN SULFATE EXCRETION IN URINE(HP:0003541), INGUINAL HERNIA(HP:0000023), NEURODEGENERATION(HP:0002180), ABNORMALITY OF THE HEART VALVES(HP:0001654), PECTUS CARINATUM(HP:0000768), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), METATARSUS VARUS(HP:0001840), HEPATOMEGALY(HP:0002240), UMBILICAL HERNIA(HP:0001537), HEARING LOSS(HP:0000365), THORACOLUMBAR KYPHOSIS(HP:0005619), DYSOSTOSIS MULTIPLEX(HP:0000943), HYDROPS FETALIS(HP:0001789), PLATYSPONDYLY(HP:0000926), MENTAL RETARDATION(HP:0001249), SPLENOMEGALY(HP:0001744), PROXIMAL TAPERING OF METACARPALS(HP:0006119), ANTERIOR BEAKING OF LOWER THORACIC AND LUMBAR VERTEBRAE(HP:0004607), SHORT NECK(HP:0000470), J-SHAPED SELLA TURCICA(HP:0002680), DECREASED BODY HEIGHT(HP:0004322), HIRSUTISM(HP:0001007), VARIABLE DEGREE OF CORNEAL OPACITIES(HP:0007957), HYDROCEPHALUS(HP:0000238), NARROW GREATER SACROSCIATIC NOTCHES(HP:0003375)]
2998	GYS2	[SEIZURES(HP:0001250), FASTING HYPOGLYCEMIA(HP:0003162), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KETONEMIA(HP:0003543), INCREASED SERUM LACTATE(HP:0002151), HYPERGLYCEMIA(HP:0003074), NEONATAL HYPOGLYCEMIA(HP:0001998)]
3000	GUCY2D	[CONE-ROD DYSTROPHY(HP:0000548), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PHOTOPHOBIA(HP:0000613), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FUNDUS ATROPHY(HP:0001099), BLINDNESS(HP:0000618), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPERTHREONINEMIA(HP:0003354), KERATOCONUS(HP:0000563), VISUAL LOSS(HP:0000572), NYSTAGMUS(HP:0000639), EYE POKING(HP:0001483), HEPATOMEGALY(HP:0002240), CATARACT(HP:0000518), DECREASED ELECTRORETINOGRAM (ERG)(HP:0000654), PIGMENTARY RETINOPATHY(HP:0000580), MENTAL RETARDATION(HP:0001249), CENTRAL VISUAL LOSS EARLY(HP:0007969), GROWTH RETARDATION(HP:0001510), PERIPHERAL VISUAL FIELD LOSS(HP:0007994), HYPERTHREONINURIA(HP:0003296)]
3028	HSD17B10	[RETINAL DEGENERATION(HP:0000546), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOTONIA, AXIAL, IN INFANCY(HP:0009062), HYPERREFLEXIA(HP:0001347), SEIZURES(HP:0001250), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), DYSARTHRIA(HP:0001260), LOSS OF DEVELOPMENTAL MILESTONES(HP:0002471), MOTOR RETARDATION(HP:0001270), CHOREOATHETOSIS(HP:0001266), HYPERTONIA(HP:0001276), ONSET IN INFANCY(HP:0003576), HYPOKINESIA(HP:0002375), HALLUCINATIONS(HP:0000738), BROAD-BASED GAIT(HP:0002136), ARACHNODACTYLY(HP:0001166), SPEECH DELAY(HP:0002117), X-LINKED RECESSIVE INHERITANCE(HP:0001419), LUMBAR HYPERLORDOSIS(HP:0002938), NYSTAGMUS(HP:0000639), X-LINKED DOMINANT INHERITANCE(HP:0001423), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), METABOLIC ACIDOSIS(HP:0001942), AGITATION(HP:0000713), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), AGGRESSIVE BEHAVIOR(HP:0000718), PSYCHOSIS(HP:0000709), RESTLESSNESS(HP:0000711)]
3029	HAGH	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), GLYOXALASE DEFICIENCY(HP:0003258), NEUROLOGICAL ABNORMALITY(HP:0000707), ELLIPTOCYTOSIS(HP:0004445)]
3030	HADHA	[NEUROPATHY(HP:0003407), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), ELEVATED LIVER ENZYMES(HP:0003293), HYDROPS FETALIS(HP:0001789), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), SLOW PROGRESSION(HP:0003677), RAPIDLY PROGRESSIVE(HP:0003678), MYALGIA(HP:0003326), GENERALIZED MUSCLE WEAKNESS(HP:0003324), FAILURE TO THRIVE(HP:0001508), HYPOKETOTIC HYPOGLYCEMIA(HP:0001985), LACTICACIDURIA(HP:0003648), LOW BIRTH WEIGHT(HP:0001518), RESPIRATORY INSUFFICIENCY(HP:0002093), HYPOKINESIA(HP:0002375), MYOGLOBINURIA(HP:0002913), SUDDEN DEATH(HP:0001699), EARLY DEATH(HP:0001432), PRENATAL MATERNAL ABNORMALITY(HP:0002686), RHABDOMYOLYSIS(HP:0003201), SKELETAL MYOPATHY(HP:0003756), PIGMENTARY RETINOPATHY(HP:0000580), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560), RETINOPATHY(HP:0000488)]
3032	HADHB	[NEUROPATHY(HP:0003407), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELEVATED LIVER ENZYMES(HP:0003293), CONGESTIVE HEART FAILURE(HP:0001635), FEEDING DIFFICULTIES(HP:0002022), LIVER DYSFUNCTION(HP:0004393), HYDROPS FETALIS(HP:0001789), 3-HYDROXYDICARBOXYLIC ACIDURIA(HP:0008160), PSYCHOMOTOR RETARDATION(HP:0001255), MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), SLOW PROGRESSION(HP:0003677), REDUCED CONSCIOUSNESS/CONFUSION(HP:0004372), RECURRENT INFANTILE HYPOGLYCEMIA(HP:0004914), RAPIDLY PROGRESSIVE(HP:0003678), MYALGIA(HP:0003326), GENERALIZED MUSCLE WEAKNESS(HP:0003324), FAILURE TO THRIVE(HP:0001508), HYPOKETOTIC HYPOGLYCEMIA(HP:0001985), LOW BIRTH WEIGHT(HP:0001518), RECURRENT MYOGLOBINURIA(HP:0003652), RESPIRATORY INSUFFICIENCY(HP:0002093), MYOGLOBINURIA(HP:0002913), HYPOKINESIA(HP:0002375), EARLY DEATH(HP:0001432), PRENATAL MATERNAL ABNORMALITY(HP:0002686), RHABDOMYOLYSIS(HP:0003201), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), RETINOPATHY(HP:0000488), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560)]
3033	HADH	[DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOGLYCEMIA, HYPOKETOTIC(HP:0005969), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), ENCEPHALOPATHY, HYPOGLYCEMIC(HP:0006929), FEEDING DIFFICULTIES(HP:0002022), HEPATIC NECROSIS(HP:0002605), MUSCULAR HYPOTONIA(HP:0001252), HEPATIC STEATOSIS(HP:0001397), GROWTH RETARDATION(HP:0001510), HYPOKINESIA(HP:0002375), MYOGLOBINURIA(HP:0002913), HETEROGENEOUS(HP:0001425), FULMINANT HEPATIC FAILURE(HP:0004448), MENTAL RETARDATION DUE TO REPEATED EPISODES OF HYPOGLYCEMIA(HP:0002386), DICARBOXYLIC ACIDURIA(HP:0003215), SEIZURES, HYPOGLYCEMIC(HP:0002173), HYPOGLYCEMIC COMA(HP:0001325)]
3039	HBA1	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ERYTHROCYTOSIS(HP:0001901), HYDROPS FETALIS(HP:0001789), METABOLISM ABNORMALITY(HP:0001939), ALPHA-THALASSEMIA WITH MICROCYTOSIS(HP:0005507), CONGENITAL HEINZ BODY ANEMIA(HP:0005511), CYANOSIS(HP:0000961), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
3040	HBA2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MILD HEMOLYTIC ANEMIA(HP:0001910), MILD ANEMIA(HP:0001926), ERYTHROCYTOSIS(HP:0001901), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
3043	HBB	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MILD HEMOLYTIC ANEMIA(HP:0001910), ERYTHROCYTOSIS(HP:0001901), HEMATURIA(HP:0000790), PRIAPISM(HP:0200023), SPLENOMEGALY(HP:0001744), URINE CONCENTRATION DEFECT(HP:0005568), THALASSEMIA(HP:0005560), INCREASED RED CELL SICKLING TENDENCY(HP:0008346), CONGENITAL DYSERYTHROPOIETIC ANEMIA(HP:0005545), MACROCYTIC HEMOLYTIC DISEASE(HP:0005524), MILD ANEMIA(HP:0001926), CHOLELITHIASIS(HP:0001081), CONGENITAL HEINZ BODY ANEMIA(HP:0005511), MICROCYTIC ANEMIA(HP:0001935), CYANOSIS(HP:0000961), OSTEOMYELITIS(HP:0002754), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
3045	HBD	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3046	HBE1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3047	HBG1	[DECREASED IGG LEVEL(HP:0004315), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ANEMIA(HP:0001903)]
3048	HBG2	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CYANOSIS(HP:0000961)]
3049	HBQ1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3050	HBZ	[STILLBIRTH(HP:0001624), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3052	HCCS	[HYPOPLASTIC UTERUS(HP:0000013), MENTAL RETARDATION, MILD TO SEVERE(HP:0002458), ASYMMETRIC, LINEAR SKIN DEFECTS(HP:0007398), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), CHORDEE(HP:0000041), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), ATRIAL SEPTAL DEFECT(HP:0001631), DIAPHRAGMATIC HERNIA(HP:0000776), IRIS COLOBOMA(HP:0000612), ONCOCYTIC CARDIOMYOPATHY(HP:0005152), PIGMENTARY RETINOPATHY(HP:0000580), ANTERIORLY PLACED ANUS(HP:0001545), ABSENT SEPTUM PELLUCIDUM(HP:0001331), HEARING LOSS(HP:0000365), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), HYPERTROPHIC CLITORIS(HP:0008665), OVERRIDING AORTA(HP:0002623), ANAL ATRESIA(HP:0002023), SCLEROCORNEA(HP:0000647), AGENESIS OF CORPUS CALLOSUM(HP:0001274), DECREASED BODY HEIGHT(HP:0004322), INFANTILE SEIZURES(HP:0002391), X-LINKED DOMINANT INHERITANCE(HP:0001423), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), METABOLISM ABNORMALITY(HP:0001939), MICROCEPHALY(HP:0000252)]
3053	SERPIND1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), THROMBOSIS(HP:0001977), POST-ANGIOPLASTY CORONARY ARTERY RESTENOSIS(HP:0004761), DISSEMINATED INTRAVASCULAR COAGULATION(HP:0005521), RECURRENT DEEP VEIN THROMBOSIS(HP:0004850)]
3060	HCRT	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), INCREASED BODY WEIGHT(HP:0004324), PARALYSIS(HP:0003470), CATAPLEXY, PAROXYSMAL WEAKNESS OR PARALYSIS(HP:0002525), EXCESSIVE DAYTIME SLEEPINESS(HP:0002189), ATTACKS OF DISABLING DAYTIME DROWSINESS AND LOW ALERTNESS(HP:0002330), HYPNAGOGIC HALLUCINATIONS(HP:0002519), METABOLISM ABNORMALITY(HP:0001939), GENERALIZED MUSCLE WEAKNESS(HP:0003324), HYPNOPOMPIC HALLUCINATIONS(HP:0006896), ABNORMAL RAPID EYE MOVEMENT (REM) SLEEP(HP:0002494), CATAPLEXY OFTEN TRIGGERED BY STRONG EMOTIONS(HP:0002428), LATE ONSET(HP:0003584)]
3064	HTT	[BRADYKINESIA(HP:0002067), PERSONALITY CHANGES(HP:0000751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CHOREA(HP:0002072), HYPERREFLEXIA(HP:0001347), RIGIDITY(HP:0002063), NEURONAL LOSS(HP:0002400), DEPRESSION(HP:0000716), ABNORMALITY OF EYE MOVEMENT(HP:0000496), GLIOSIS(HP:0002171), EARLY ONSET(HP:0003593), DEMENTIA(HP:0000726)]
3073	HEXA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXAGGERATED STARTLE RESPONSE(HP:0002267), BLINDNESS(HP:0000618), APATHY(HP:0000741), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), GM2-GANGLIOSIDE ACCUMULATION(HP:0003495), PALLOR(HP:0000980), POOR HEAD CONTROL(HP:0002421), ASPIRATION(HP:0002835), MACULAR PALLOR WITH PROMINENCE OF FOVEA CENTRALIS(HP:0007988), PSYCHOMOTOR DEGENERATION(HP:0002361), HYPERTONIA(HP:0001276), ONSET IN INFANCY(HP:0003576), DEMENTIA(HP:0000726)]
3074	HEXB	[CARDIOMEGALY(HP:0001640), COARSE FACIAL FEATURES(HP:0000280), MACROCEPHALY(HP:0000256), PYRAMIDAL TRACT DYSFUNCTION(HP:0007275), URINARY INCONTINENCE(HP:0000020), IMPOTENCE(HP:0000802), MACROGLOSSIA(HP:0000158), HYPERREFLEXIA(HP:0001347), CHRONIC DIARRHEA(HP:0002028), CEREBELLAR ATAXIA(HP:0001253), CHERRY RED SPOT OF THE MACULA(HP:0010729), DYSARTHRIA(HP:0001260), ORTHOSTATIC HYPOTENSION(HP:0001278), EPISODIC ABDOMINAL PAIN(HP:0002574), FASCICULATIONS(HP:0002380), BLINDNESS IN INFANCY OR VERY EARLY CHILDHOOD(HP:0007839), HEPATOSPLENOMEGALY(HP:0001433), PROGRESSIVE MENTAL AND MOTOR DETERIORATION(HP:0006856), AMYOTROPHY(HP:0003202), ABNORMALITY OF GLYCOSPHINGOLIPID METABOLISM(HP:0004343), IMPAIRED THERMAL SENSITIVITY(HP:0006901), MUSCLE WEAKNESS(HP:0001324), HYPERHIDROSIS(HP:0000975), HYPOHIDROSIS(HP:0000966)]
3075	CFH	[COGNITIVE DEFECTS(HP:0002441), HYPERTENSION(HP:0000822), MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPE II(HP:0004746), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ACUTE RENAL FAILURE(HP:0001919), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE PHENOTYPE(HP:0003813), DECREASED HEMOGLOBIN(HP:0003136), INCREASED BLOOD UREA NITROGEN (BUN)(HP:0003138), HEMATURIA(HP:0000790), SEIZURES(HP:0001250), PARTIAL COMPLEMENT FACTOR H DEFICIENCY(HP:0008290), THROMBOCYTOPENIA(HP:0001873), DIARRHEA(HP:0002014), COMA(HP:0001259), IGA NEPHROPATHY(HP:0000794), HEMOLYTIC-UREMIC SYNDROME(HP:0005575), HEMIPARESIS(HP:0001269), PROGRESSIVE VISUAL LOSS(HP:0000529), DYSPHASIA(HP:0002357), ONSET IN INFANCY OR CHILDHOOD(HP:0003583), HETEROGENEOUS(HP:0001425), SCHISTOCYTES(HP:0001981), DECREASED SERUM COMPLEMENT FACTOR B(HP:0005416), DECREASED SERUM COMPLEMENT C3(HP:0005421), SPORADIC(HP:0003745), PROTEINURIA(HP:0000093), HYPERLIPIDEMIA(HP:0003077), DEPRESSION(HP:0000716), MICROANGIOPATHIC HEMOLYTIC ANEMIA(HP:0001937), INCREASED CREATININE(HP:0003259), PURPURA(HP:0000979), PROGRESSIVE RENAL INSUFFICIENCY(HP:0000106), FEVER(HP:0001945), THICKENING OF THE GLOMERULAR BASEMENT MEMBRANE ON RENAL BIOPSY(HP:0004722), INCREASED SUSCEPTIBILITY TO CERTAIN BACTERIAL INFECTIONS(HP:0005391), RETICULOCYTOSIS(HP:0001923), DEPLETION OF COMPONENTS OF THE ALTERNATIVE COMPLEMENT PATHWAY(HP:0005389), VASCULITIS(HP:0002633), RECURRENT MENINGOCOCCAL DISEASE(HP:0005381)]
3077	HFE	[CARDIOMEGALY(HP:0001640), PLEURAL EFFUSION(HP:0002202), AMENORRHEA(HP:0000141), HYPERPIGMENTATION(HP:0000953), INCREASED SERUM FERRITIN(HP:0003281), DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), CARDIOMYOPATHY(HP:0001638), OSTEOPOROSIS(HP:0000939), IMPOTENCE(HP:0000802), AZOOSPERMIA(HP:0000027), TESTICULAR ATROPHY(HP:0000029), HEPATOCELLULAR CARCINOMA(HP:0001402), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), CIRRHOSIS(HP:0001394), SPLENOMEGALY(HP:0001744), INCREASED SERUM IRON(HP:0003452), TELANGIECTASIA(HP:0001009), ARTHROPATHY(HP:0003040), ALOPECIA(HP:0001596), HEPATOMEGALY(HP:0002240), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), ASCITES(HP:0001541), ELEVATED TRANSAMINASES(HP:0002910)]
3081	HGD	[ARTHRITIS(HP:0001369), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BACK PAIN(HP:0003418), VERTEBRAL FUSION(HP:0002948), ARTHRALGIA(HP:0002829), MITRAL VALVE CALCIFICATION(HP:0004382), AORTIC VALVE CALCIFICATION(HP:0004380), DEGENERATION OF INTERVERTEBRAL DISKS(HP:0008419), GROWTH ABNORMALITY(HP:0001507), KYPHOSIS(HP:0002808), ARTHROPATHY(HP:0003040), ABNORMALITY OF THE URINARY TRACT(HP:0000079), PIGMENTATION OF THE SCLERA(HP:0007832), ABNORMALITY OF SKIN PIGMENTATION(HP:0001000), THICKENED ACHILLES TENDON(HP:0004690), CORONARY ARTERY CALCIFICATION(HP:0001717), AORTIC DILATATION(HP:0001724), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF THE EARS(HP:0000598)]
3082	HGF	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), DEAFNESS, SENSORINEURAL, PRELINGUAL, PROFOUND(HP:0000399), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
3098	HK1	[JAUNDICE(HP:0000952), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SPLENOMEGALY(HP:0001744), CHOLECYSTITIS(HP:0001082), NORMOCYTIC ANEMIA(HP:0001897), CHOLELITHIASIS(HP:0001081), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930), NORMOCHROMIC ANEMIA(HP:0001895)]
3105	HLA-A	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
3110	MNX1	[ANTERIOR SACRAL MENINGOCELE(HP:0007293), REDUCED PENETRANCE(HP:0003830), RECTOVAGINAL FISTULA(HP:0000143), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MENINGOCELE(HP:0002435), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), NEUROGENIC BLADDER(HP:0000011), PERIANAL ABSCESS(HP:0009789), ANAL FISTULA(HP:0010447), BIFID SACRUM(HP:0009791), ABDOMINAL DISTENTION(HP:0003270), HEMISACRUM (S2-S5)(HP:0009790), URINARY INCONTINENCE(HP:0000020), ANAL ATRESIA(HP:0002023), ANAL STENOSIS(HP:0002025), BICORNUATE UTERUS(HP:0000813), DEVELOPMENTAL RETARDATION(HP:0001263), GASTROINTESTINAL OBSTRUCTION(HP:0004796), SEPTATE VAGINA(HP:0001153), VESICOURETERAL REFLUX(HP:0000076), HORSESHOE KIDNEY(HP:0000085), CHRONIC CONSTIPATION(HP:0002241), MENINGITIS(HP:0001287), PRESACRAL TERATOMA(HP:0009793), TETHERED CORD(HP:0002144)]
3122	HLA-DRA	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
3141	HLCS	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), THROMBOCYTOPENIA(HP:0001873), COMA(HP:0001259), VOMITING(HP:0002013), MILD-MODERATE HYPERAMMONEMIA(HP:0008308), HYPERTONIA(HP:0001276), ORGANIC ACIDURIA(HP:0001992), IRRITABILITY(HP:0000737), ALOPECIA(HP:0001596), TACHYPNEA(HP:0002789), METABOLIC ACIDOSIS(HP:0001942), HYPERVENTILATION(HP:0002883), SKIN RASH(HP:0000988)]
3145	HMBS	[NEUROPATHY(HP:0003407), HYPERTENSION(HP:0000822), RESPIRATORY PARALYSIS(HP:0002203), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), PARESTHESIA(HP:0003401), URINARY RETENTION(HP:0000016), CONSTIPATION(HP:0002019), NAUSEA(HP:0002018), INCREASED INCIDENCE OF HEPATOCELLULAR CARCINOMA(HP:0003007), URINARY INCONTINENCE(HP:0000020), TACHYCARDIA(HP:0001649), ABDOMINAL PAIN(HP:0002027), SEIZURES(HP:0001250), PARALYTIC ILEUS(HP:0002590), DIARRHEA(HP:0002014), ABNORMALITY OF ERYTHROCYTES(HP:0001877), VOMITING(HP:0002013), ANXIETY(HP:0000739), PARALYSIS(HP:0003470), ACUTE EPISODES OF NEUROPATHIC SYMPTOMS(HP:0003489), DEPRESSION(HP:0000716), URINARY LABORATORY ABNORMALITY(HP:0003110), PSYCHOTIC EPISODES(HP:0000725)]
3155	HMGCL	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EARLY DEATH(HP:0001432), GLUTARIC ACIDURIA(HP:0003150), 3-METHYLGLUTARIC ACIDURIA(HP:0003344), HEPATOMEGALY(HP:0002240), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), SOMNOLENCE(HP:0001262), COMA(HP:0001259), FEVER(HP:0001945), HYPERAMMONEMIA(HP:0001987), ORGANIC ACIDURIA(HP:0001992)]
3172	HNF4A	[NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), EARLY ONSET, MILD AND RELATIVELY UNCOMPLICATED COURSE(HP:0003672), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INSULIN-DEPENDENT MATURITY-ONSET DIABETES OF THE YOUNG(HP:0004904)]
3195	TLX1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), T-CELL ACUTE LYMPHOBLASTIC LEUKEMIAS(HP:0006727)]
3199	HOXA2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), MICROTIA(HP:0000393), CLEFT PALATE(HP:0000175)]
3207	HOXA11	[APLASTIC ANEMIA(HP:0001915), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RADIAL BOWING(HP:0002986), HEARING LOSS, SENSORINEURAL(HP:0000407), THROMBOCYTOPENIA, CONGENITAL(HP:0004869), DISLOCATED HIPS(HP:0002827), PANCYTOPENIA(HP:0001876), SHALLOW ACETABULAR FOSSAE(HP:0003182), PROXIMAL RADIO-ULNAR SYNOSTOSIS(HP:0005037), LIMITED PRONATION/SUPINATION OF FOREARM(HP:0006394), SYNDACTYLY(HP:0001159), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), MEGAKARYOCYTOPENIA(HP:0005548), PURPURA(HP:0000979), PETECHIAE(HP:0000967), ULNAR BOWING(HP:0003031)]
3209	HOXA13	[DELAYED MATURATION/DELAYED OSSIFICATION OF CARPAL BONES(HP:0001216), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROXIMALLY PLACED THUMB(HP:0009623), HYPOPLASTIC/SHORT 1ST METACARPAL(HP:0010034), GLANDULAR HYPOSPADIAS(HP:0000807), THENAR HYPOPLASIA(HP:0001245), PSEUDOEPIPHYSES(HP:0010584), HYPOPLASTIC/SMALL 5TH FINGER(HP:0009237), BRACHYDACTYLY (2ND-5TH TOES)(HP:0001885), CHORDEE(HP:0000041), BIFID SCROTUM(HP:0000048), MICROPENIS(HP:0000054), HYPOPLASTIC DISTAL AND MIDDLE PHALANGES(HP:0006118), LONGITUDINAL VAGINAL SEPTUM(HP:0008740), HYPOPLASTIC/SMALL HALLUX(HP:0010109), VESICOURETERAL REFLUX(HP:0000076), SHORT FIRST METATARSAL(HP:0004680), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), URETEROPELVIC JUNCTION OBSTRUCTION(HP:0000074), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), RENAL FAILURE(HP:0000083), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), HALLUX VARUS(HP:0008080), DELAYED TARSAL OSSIFICATION(HP:0008103), ULNAR DEVIATION OF INDEX FINGERS(HP:0005811)]
3236	HOXD10	[ARTHRITIS(HP:0001369), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EQUINUS DEFORMITY OF THE CALCANEUS(HP:0008138), CONGENITAL VERTICAL TALUS(HP:0010218), VALGUS POSITION OF THE CALCANEUS(HP:0008120)]
3239	HOXD13	[PATENT DUCTUS ARTERIOSUS(HP:0001643), HYPOPLASIA OF THE RADIUS(HP:0002984), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TETRALOGY OF FALLOT(HP:0001636), HYPOPLASTIC/SMALL THUMB(HP:0009778), ROUND FACE(HP:0000311), LARYNGEAL STENOSIS(HP:0001602), HYPOSPADIAS(HP:0000047), RADIOULNAR SYNOSTOSIS(HP:0002974), ABNORMALITY OF THE RIBS(HP:0000772), VENTRICULAR SEPTAL DEFECT(HP:0001629), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), APLASIA OF THE DISTAL INTERPHALANGEAL CREASES(HP:0001032), BROAD DISTAL PHALANGES OF THE HAND(HP:0009836), VESICOURETERAL REFLUX(HP:0000076), PREAXIAL POLYDACTYLY (FEET)(HP:0001841), MULTIPLE IMPACTED TEETH(HP:0001571), URETEROPELVIC JUNCTION OBSTRUCTION(HP:0000074), STRAIGHT AND SHORT CLAVICLES(HP:0005902), ECTOPIC KIDNEY(HP:0000086), 2ND-5TH TOE MIDDLE PHALANGEAL HYPOPLASIA(HP:0008083), 4-5 TOE SYNDACTYLY(HP:0004692), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), HYPOPLASTIC/SMALL MIDDLE PHALANX OF THE 5TH FINGER(HP:0004220), 2-3 OR 4-5 TOE SYNDACTYLY(HP:0004703), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), RENAL DYSPLASIA(HP:0000110), HYDRONEPHROSIS(HP:0000126), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), ESOPHAGEAL ATRESIA(HP:0002032), SHORT, BROAD DISTAL PHALANGES(HP:0006199), 6 METACARPALS(HP:0001501), ANAL ATRESIA(HP:0002023), TYPE A BRACHYDACTYLY(HP:0009370), ENLARGED PROXIMAL INTERPHALANGEAL JOINTS(HP:0006185), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), FAILURE TO THRIVE(HP:0001508), OCCIPITAL ENCEPHALOCELE(HP:0002085), TRACHEOESOPHAGEAL FISTULA(HP:0002575), PRENATAL GROWTH DEFICIENCY(HP:0001515), CENTRAL POLYDACTYLY (HANDS)(HP:0006159), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), Y-SHAPED METACARPALS(HP:0006042), ABNORMALITY OF THE STERNUM(HP:0000766), CHOANAL ATRESIA(HP:0000453), ISOLATED CASES(HP:0001420), LARGE FONTANELLES(HP:0000239), SINGLE UMBILICAL ARTERY(HP:0001195), SPINA BIFIDA(HP:0002414), SCOLIOSIS(HP:0002650), TRIPHALANGEAL THUMB(HP:0001199), SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702), TETHERED CORD(HP:0002144), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554), 5TH FINGER CLINO-CAMPTODACTYLY(HP:0006062), MODERATELY SHORT STATURE(HP:0008848)]
3242	HPD	[4-HYDROXYPHENYLPYRUVIC ACIDURIA(HP:0003161), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TYROSINEMIA(HP:0003231), METABOLIC ACIDOSIS(HP:0001942), SEIZURES(HP:0001250), 4-HYDROXYPHENYLACETIC ACIDURIA(HP:0003607), ABNORMALITY OF THE LIVER(HP:0001392), MENTAL RETARDATION, MILD(HP:0001256), FAILURE TO THRIVE(HP:0001508)]
3248	HPGD	[PATENT DUCTUS ARTERIOSUS(HP:0001643), CLUBBING(HP:0001217), ARTHRITIS(HP:0001369), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), OSTEOLYTIC DEFECTS OF THE PHALANGES OF THE HAND(HP:0009771), COARSE FACIAL FEATURES(HP:0000280), HIGH-ARCHED PALATE(HP:0000156), OSTEOPOROSIS(HP:0000939), OSTEOPENIA(HP:0000938), ARTHRALGIA(HP:0002829), DOLICHOSTENOMELIA(HP:0001519), DECREASED MOBILITY OF JOINTS(HP:0001376), ONSET AT BIRTH(HP:0003577), LONG CLAVICLES(HP:0000890), THICKENED CALVARIA(HP:0002684), SEBORRHEIC DERMATITIS(HP:0001051), PECTUS EXCAVATUM(HP:0000767), PTOSIS(HP:0000508), LARGE FONTANELLES(HP:0000239), WORMIAN BONES(HP:0002645), ECZEMATOID DERMATITIS(HP:0000976), HYPERHIDROSIS(HP:0000975), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
3251	HPRT1	[EXTRAPYRAMIDAL SIGNS(HP:0002071), HYPERURICOSURIA(HP:0003149), MEGALOBLASTIC ANEMIA(HP:0001889), OPISTHOTONUS(HP:0002179), TESTICULAR ATROPHY(HP:0000029), MUSCULAR HYPOTONIA(HP:0001252), KIDNEY STONES(HP:0000787), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), VOMITING(HP:0002013), MOTOR RETARDATION(HP:0001270), CHOREOATHETOSIS(HP:0001266), GOUT(HP:0001997), GOUT (FEET)(HP:0001854), INTEGUMENT ABNORMALITY(HP:0001574), DECREASED BODY HEIGHT(HP:0004322), RENAL FAILURE(HP:0000083), X-LINKED RECESSIVE INHERITANCE(HP:0001419), SPASTICITY, HYPERREFLEXIA(HP:0007318), DYSTONIA(HP:0001332), HYPERURICEMIA(HP:0002149)]
3257	HPS1	[INFLAMMATORY BOWEL DISEASE(HP:0002037), PULMONARY FIBROSIS(HP:0002206), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), CARDIOMYOPATHY(HP:0001638), ABDOMINAL PAIN(HP:0002027), BLEEDING DIATHESIS(HP:0001892), OCULAR ALBINISM(HP:0001107), FRECKLING(HP:0001480), RESTRICTIVE LUNG DISEASE(HP:0002091), EPISTAXIS(HP:0000421), LIFELONG REDUCED VISUAL ACUITY, LEGAL BLINDNESS TO LOW VISION(HP:0007640), HETEROGENEOUS(HP:0001425), ALBINISM(HP:0001022), BLOODY DIARRHEA(HP:0002255), FRECKLES IN SUN-EXPOSED AREAS(HP:0007603), HAIR ABNORMALITY(HP:0001595), RENAL FAILURE(HP:0000083), PIGMENTED NEVI(HP:0000995), NYSTAGMUS(HP:0000639), ECCHYMOSES(HP:0000978), PROLONGED BLEEDING TIME(HP:0003010), GINGIVAL BLEEDING(HP:0000225)]
3265	HRAS	[ACANTHOSIS NIGRICANS(HP:0000956), PULMONIC STENOSIS(HP:0001642), POOR SUCK(HP:0002033), TALIPES EQUINOVARUS(HP:0001762), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MITRAL VALVE PROLAPSE(HP:0001634), MALIGNANT MELANOMA(HP:0002861), BLADDER CARCINOMA(HP:0002862), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), RHABDOMYOSARCOMA(HP:0002859), MACROCEPHALY(HP:0000256), OBSTRUCTIVE SLEEP APNEA(HP:0002870), PYLORIC STENOSIS(HP:0002021), HIGH-ARCHED PALATE(HP:0000156), MACROGLOSSIA(HP:0000158), COLON CANCER(HP:0003003), LIMITED ELBOW MOVEMENT(HP:0002996), CEREBRAL ATROPHY(HP:0002059), DEEP PALMAR CREASES(HP:0006191), FULL LIPS(HP:0000170), HOARSE VOICE(HP:0001609), MENTAL RETARDATION(HP:0001249), PNEUMOTHORAX(HP:0002107), HYPERTELORISM(HP:0000316), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), VENTRICULAR SEPTAL DEFECT(HP:0001629), PECTUS CARINATUM(HP:0000768), ATRIAL SEPTAL DEFECT(HP:0001631), DEEP PLANTAR CREASES(HP:0001869), TIGHT ACHILLES TENDON(HP:0006430), REDUNDANT NECK SKIN(HP:0005989), RESPIRATORY INSUFFICIENCY(HP:0002093), CURLY HAIR(HP:0002212), SPARSE HAIR(HP:0008070), LOOSE, REDUNDANT SKIN(HP:0001582), ABNORMAL OR EXCESS NEVI(HP:0003764), SUDDEN DEATH(HP:0001699), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), WEBBED NECK(HP:0000465), NARES, ANTEVERTED(HP:0000463), ABNORMALITY OF SKIN PIGMENTATION(HP:0001000), KOILONYCHIA(HP:0001598), RENAL FAILURE(HP:0000083), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), HYPEREXTENSIBILITY OF THE FINGER JOINTS(HP:0001187), HYPOGLYCEMIA(HP:0001943), TRACHEOMALACIA(HP:0002779), LOW-SET EARS(HP:0000369), BRONCHOMALACIA(HP:0002780), THIN, DEEP-SET NAILS(HP:0001814), VESTIBULAR SCHWANNOMA(HP:0009588), FRAGILE NAILS(HP:0001808), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), POLYHYDRAMNIOS(HP:0001561), RENAL PELVIC CARCINOMA(HP:0006762), STRABISMUS(HP:0000486), PAPILLARY RENAL CELL CARCINOMA(HP:0006766), BARREL-SHAPED CHEST(HP:0001552)]
3273	HRG	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECURRENT THROMBOEMBOLIC DISEASE(HP:0004831)]
3291	HSD11B2	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTENSIVE RETINOPATHY(HP:0001095), LOW PLASMA RENIN ACTIVITY(HP:0003263), GROWTH RETARDATION(HP:0001510), HYPOALDOSTERONISM(HP:0000355), HYPOKALEMIA(HP:0002900)]
3293	HSD17B3	[HYPOTHYROIDISM(HP:0000821), INFERTILITY(HP:0000789), METABOLISM ABNORMALITY(HP:0001939), MALE PSEUDOHERMAPHRODITISM(HP:0000037), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GYNECOMASTIA(HP:0000771)]
3295	HSD17B4	[ABOLISHED ELECTRORETINOGRAM (ERG)(HP:0000550), DELAYED SKELETAL MATURATION(HP:0002750), RETROGNATHIA(HP:0000278), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), SCAPHOCEPHALY(HP:0000258), MACROCEPHALY(HP:0000256), VISUAL LOSS(HP:0000572), DELAYED CLOSURE OF FONTANELLES(HP:0000270), GENERALIZED CEREBRAL HYPOPLASIA/ATROPHY(HP:0007058), HEPATIC STEATOSIS(HP:0001397), CHOLESTASIS(HP:0001396), HYPERTELORISM(HP:0000316), ONSET IN INFANCY(HP:0003576), ATROPHY/DEGENERATION OF THE CORPUS CALLOSUM(HP:0007371), LONG PHILTRUM(HP:0000343), CEREBRAL HYPOPLASIA(HP:0006872), HIGH FOREHEAD(HP:0000348), CEREBELLAR HYPOPLASIA/ATROPHY(HP:0006857), WHITE MATTER DYSMYELINATION/DEMYELINATION(HP:0007134), ADRENOCORTICAL INSUFFICIENCY(HP:0008219), SMALL CHEST(HP:0001590), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), LOW-SET EARS(HP:0000369), UPSLANTING PALPEBRAL FISSURES(HP:0000582), NEOCORTICAL DYSPLASIA(HP:0007139), RENAL CYSTS(HP:0000107), POLYHYDRAMNIOS(HP:0001561), NEONATAL HYPOTONIA(HP:0001319), TALIPES EQUINOVARUS(HP:0001762), HAMMER TOES(HP:0001765), HIGH-ARCHED PALATE(HP:0000156), OSTEOPENIA(HP:0000938), FEEDING DIFFICULTIES(HP:0002022), FETAL ASCITES(HP:0001791), PSYCHOMOTOR RETARDATION(HP:0001255), DECREASED MUSCLE MASS(HP:0003199), SEIZURES(HP:0001250), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), CALCIFIC STIPPLING(HP:0002832), FACIAL DYSMORPHISM(HP:0001999), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), ECTRODACTYLY (HANDS)(HP:0001171), BILE DUCT PROLIFERATION(HP:0001408), VENTRICULOMEGALY(HP:0002119), PECTUS EXCAVATUM(HP:0000767), POLYMICROGYRIA(HP:0002126), MICROGNATHIA(HP:0000210), LARGE FONTANELLES(HP:0000239), GLIOSIS(HP:0002171), HYPOPLASTIC/ATROPHIC CORPUS CALLOSUM(HP:0007026), STRABISMUS(HP:0000486)]
3299	HSF4	[ANTERIOR POLAR CATARACT(HP:0001134), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NUCLEAR CATARACT(HP:0100018), LAMELLAR CATARACT(HP:0007971)]
3315	HSPB1	[NEUROPATHY(HP:0003407), PES CAVUS(HP:0001761), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MUSCLE CRAMPS(HP:0003394), MUSCLE WEAKNESS, DISTAL (LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS), DUE TO MOTOR NEURONOPATHY(HP:0002598), DISTAL AMYOTROPHY(HP:0003693), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178), HYPOREFLEXIA OF LOWER LIMBS(HP:0002600), PARESIS OF EXTENSOR MUSCLES OF THE BIG TOE IS PRESENTING SYMPTOM(HP:0002601), NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437), SLOW PROGRESSION(HP:0003677), MUSCLE WEAKNESS, LOWER LIMB, DISTAL(HP:0009053), DIFFICULTY WALKING(HP:0002355), ONSET IN ADULTHOOD(HP:0003581), SURAL NERVE BIOPSY SHOWS CHRONIC AXONAL NEUROPATHY(HP:0003446), HETEROGENEOUS(HP:0001425), FASCICULATIONS(HP:0002380), PARALYSIS(HP:0003470), AREFLEXIA IN LOWER LIMBS(HP:0002522), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS(HP:0003483), DISTAL SENSORY IMPAIRMENT(HP:0002936), CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178), VARIABLE AGE AT ONSET(HP:0003618), FOOT DROP(HP:0003377), 'STEPPAGE' GAIT(HP:0003376)]
3329	HSPD1	[SPASTIC GAIT(HP:0002064), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), URINARY URGENCY(HP:0000012), MICROCEPHALY, ACQUIRED(HP:0000259), MENTAL RETARDATION, PROFOUND(HP:0002187), SPHINCTER DISTURBANCE(HP:0000018), URINARY INCONTINENCE(HP:0000020), SPASTICITY, PROGRESSIVE(HP:0002191), FEEDING DIFFICULTIES(HP:0002022), LOWER LIMB SPASTICITY(HP:0002061), HYPERREFLEXIA(HP:0001347), MUSCULAR HYPOTONIA(HP:0001252), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), APNEA(HP:0002104), SPASTIC PARAPLEGIA(HP:0001258), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), CHOREOATHETOSIS(HP:0001266), ONSET AT BIRTH(HP:0003577), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166), LEUKODYSTROPHY(HP:0002415), FEVER(HP:0001945), STRABISMUS(HP:0000486)]
3339	HSPG2	[DELAYED SKELETAL MATURATION(HP:0002750), CONGENITAL HIP DISLOCATION(HP:0001374), KYPHOSCOLIOSIS(HP:0002751), MALAR HYPOPLASIA(HP:0000272), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FLATTENED FEMORAL EPIPHYSES(HP:0008811), SKULL DEFECT(HP:0001362), NEONATAL DEATH(HP:0003811), INGUINAL HERNIA(HP:0000023), HIP CONTRACTURES(HP:0003273), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), GENERALIZED HIRSUTISM(HP:0002230), FULL CHEEKS(HP:0000293), PECTUS CARINATUM(HP:0000768), MYOTONIA(HP:0002486), COXA VARA(HP:0002812), MANDIBULAR HYPOPLASIA(HP:0000347), SHOULDER CONTRACTURES(HP:0003044), SHORT, BENT LONG BONES(HP:0006382), AMYOTROPHY(HP:0003202), SMALL CHEST(HP:0001590), OVERGROWTH(HP:0001548), METAPHYSEAL WIDENING(HP:0003016), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), UMBILICAL HERNIA(HP:0001537), SHORT LIMB DWARFISM(HP:0003505), POSTERIORLY ROTATED EARS(HP:0000358), MUSCLE WEAKNESS(HP:0001324), MUSCLE HYPERTROPHY(HP:0003712), DECREASED TESTICULAR SIZE(HP:0008734), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), CAMPTODACTYLY (HANDS)(HP:0010563), MALIGNANT HYPERTHERMIA(HP:0002047), WRIST CONTRACTURES(HP:0001239), OSTEOPOROSIS(HP:0000939), CORONAL CLEFT VERTEBRAE(HP:0003417), OVERFOLDED HELICES(HP:0000396), ANISOSPONDYLY(HP:0002879), PLATYSPONDYLY(HP:0000926), MENTAL RETARDATION(HP:0001249), CONTRACTURES OF THE TOES(HP:0200027), MICROSTOMIA(HP:0000160), BROAD NASAL BRIDGE(HP:0000431), HYPOREFLEXIA(HP:0001265), PULMONARY HYPOPLASIA(HP:0002089), PURSED LIPS(HP:0000205), COXA VALGA(HP:0002673), SHORT NECK(HP:0000470), LUMBAR HYPERLORDOSIS(HP:0002938), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), LONG EYELASHES IN IRREGULAR ROWS(HP:0007740), ANTERIOR BOWING OF LONG BONES(HP:0006473), SMALL, HIGH-PITCHED VOICE(HP:0008379), MICROCORNEA(HP:0000482)]
3373	HYAL1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE JOINTS(HP:0001367), ABNORMALITY OF THE SKIN(HP:0000951), BIFID UVULA(HP:0000193), DECREASED BODY HEIGHT(HP:0004322), OTITIS MEDIA(HP:0000388), METABOLISM ABNORMALITY(HP:0001939), FLATTENED NASAL BRIDGE(HP:0000425), SUBMUCOUS CLEFT PALATE(HP:0000176)]
3423	IDS	[CONTRACTURES(HP:0001371), CONGESTIVE HEART FAILURE(HP:0001635), COARSE FACIAL FEATURES(HP:0000280), SCAPHOCEPHALY(HP:0000258), MACROCEPHALY(HP:0000256), MENTAL RETARDATION, PROFOUND(HP:0002187), DERMATAN AND HEPARAN SULFATE EXCRETION IN URINE(HP:0003541), INTESTINAL PSEUDO-OBSTRUCTION(HP:0004389), INGUINAL HERNIA(HP:0000023), ABNORMALITY OF THE HEART VALVES(HP:0001654), NEURODEGENERATION(HP:0002180), HOARSE VOICE(HP:0001609), KYPHOSIS(HP:0002808), TRACHEOBRONCHOMALACIA(HP:0002786), HEPATOMEGALY(HP:0002240), UMBILICAL HERNIA(HP:0001537), PAPILLEDEMA(HP:0001085), HEARING LOSS(HP:0000365), WIDELY SPACED TEETH(HP:0000687), PES CAVUS(HP:0001761), DELAYED DENTITION(HP:0000684), RECURRENT OTITIS MEDIA(HP:0000403), DYSOSTOSIS MULTIPLEX(HP:0000943), OBSTRUCTIVE SLEEP APNEA(HP:0002870), MACROGLOSSIA(HP:0000158), ASTHMA(HP:0002099), FULL LIPS(HP:0000170), FISHNET RETINAL PIGMENTATION(HP:0007801), SEIZURES(HP:0001250), CERVICAL CORD COMPRESSION(HP:0002341), DIARRHEA(HP:0002014), SPLENOMEGALY(HP:0001744), SHORT NECK(HP:0000470), ABNORMALITY OF SKIN PIGMENTATION(HP:0001000), ECTRODACTYLY (HANDS)(HP:0001171), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPERTRICHOSIS(HP:0000998), PTOSIS(HP:0000508), HYDROCEPHALUS(HP:0000238), MILD SPONDYLORHIZOMELIC DWARFISM(HP:0008852)]
3426	CFI	[RECURRENT SKIN INFECTIONS(HP:0001581), ARTHRITIS(HP:0001369), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RECURRENT OTITIS MEDIA(HP:0000403), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), DECREASED SERUM COMPLEMENT FACTOR I(HP:0005356), DECREASED SERUM COMPLEMENT FACTOR B(HP:0005416), INCREASED SUSCEPTIBILITY TO STREPTOCOCCUS PNEUMONIAE INFECTIONS(HP:0005366), DECREASED SERUM COMPLEMENT C3(HP:0005421), RENAL FAILURE(HP:0000083), DECREASED SERUM COMPLEMENT FACTOR H(HP:0005369), METABOLISM ABNORMALITY(HP:0001939), GLOMERULONEPHRITIS(HP:0000099), RECURRENT MENINGITIS(HP:0006946), SINUSITIS(HP:0000246), VASCULITIS(HP:0002633), INCREASED SUSCEPTIBILITY TO HAEMOPHILUS INFLUENZAE INFECTIONS(HP:0005376), RECURRENT MENINGOCOCCAL DISEASE(HP:0005381), ONSET IN CHILDHOOD(HP:0003578)]
3431	SP110	[LYMPH NODES LACK GERMINAL CENTERS(HP:0002849), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ENDOCARDIAL FIBROSIS(HP:0006685), IMMUNODEFICIENCY(HP:0002721), ABNORMALITY OF THE LIVER(HP:0001392), MICROCEPHALY(HP:0000252), DECREASED IGG LEVEL(HP:0004315)]
3459	IFNGR1	[SALMONELLA OSTEOMYELITIS(HP:0005661), HEMATOLOGICAL ABNORMALITY(HP:0001871), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438)]
3476	IGBP1	[RETROGNATHIA(HP:0000278), HEARING LOSS, SENSORINEURAL(HP:0000407), MACROCEPHALY(HP:0000256), HIGH-ARCHED PALATE(HP:0000156), MENTAL RETARDATION(HP:0001249), AGENESIS OF CORPUS CALLOSUM(HP:0001274), BROAD NECK(HP:0000475), IRIS COLOBOMA(HP:0000612), SHORT NECK(HP:0000470), HIGH FOREHEAD(HP:0000348), DECREASED BODY HEIGHT(HP:0004322), PECTUS EXCAVATUM(HP:0000767), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPODYSPLASIA OF THE CORPUS CALLOSUM(HP:0006849), LOW-SET EARS(HP:0000369), IMPAIRED VISION(HP:0000505), SCOLIOSIS(HP:0002650), CUP-SHAPED EARS(HP:0000378), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
3479	IGF1	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), OSTEOPENIA(HP:0000938), MENTAL RETARDATION(HP:0001249), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), ONSET IN UTERO(HP:0003660), CLINODACTYLY OF HANDS(HP:0001157), SHORT ATTENTION SPAN(HP:0000736), DECREASED BODY HEIGHT(HP:0004322), HYPERACTIVITY(HP:0000752), MICROGNATHIA(HP:0000210), LOW WEIGHT(HP:0001823), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), MICROCEPHALY(HP:0000252)]
3480	IGF1R	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACIAL DYSMORPHISM MAY OCCUR(HP:0004655), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), ONSET IN UTERO(HP:0003660), BROAD NASAL BRIDGE(HP:0000431), LONG, SMOOTH PHILTRUM(HP:0000299), CLINODACTYLY OF HANDS(HP:0001157), ANXIETY(HP:0000739), DECREASED BODY HEIGHT(HP:0004322), SPEECH DELAY(HP:0002117), PECTUS EXCAVATUM(HP:0000767), THIN UPPER LIP(HP:0000219), AGITATION(HP:0000713), LOW WEIGHT(HP:0001823), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), MICROCEPHALY(HP:0000252)]
3500	IGHG1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3508	IGHMBP2	[TALIPES EQUINOVARUS(HP:0001762), INSPIRATORY STRIDOR(HP:0005348), CAMPTODACTYLY (HANDS)(HP:0010563), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIMB MUSCLE WEAKNESS(HP:0003690), CONSTIPATION(HP:0002019), URINARY INCONTINENCE(HP:0000020), DISTAL MUSCLE WEAKNESS AND ATROPHY(HP:0006940), SPINAL MUSCULAR ATROPHY(HP:0007269), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178), WEAK CRY(HP:0001612), FAILURE TO THRIVE(HP:0001508), INTRAUTERINE GROWTH RETARDATION(HP:0001511), HYPOREFLEXIA(HP:0001265), LOW BIRTH WEIGHT(HP:0001518), PREMATURE BIRTH(HP:0001622), MUSCLE WEAKNESS AND ATROPHY(HP:0009012), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), DEGENERATION OF ANTERIOR HORN CELLS(HP:0002398), TACHYPNEA(HP:0002789), DIAPHORESIS(HP:0001064), DIAPHRAGMATIC WEAKNESS(HP:0009113), EVENTRATION OF THE RIGHT OR BOTH HEMIDIAPHRAGMS(HP:0009114), VENTILAR DEPENDENCE WITH INABILITY TO WEAN(HP:0005946), DENERVATION OF THE DIAPHRAGM(HP:0009109), DIAPHRAGMATIC PARALYSIS(HP:0006597), HYPERHIDROSIS(HP:0000975), NERVE BIOPSY SHOWS AXONAL DEGENERATION(HP:0007304), DECREASED FETAL MOVEMENT(HP:0001558)]
3514	IGKC	[METABOLISM ABNORMALITY(HP:0001939), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DIARRHEA(HP:0002014)]
3549	IHH	[HYPOPLASIA OF THE RADIUS(HP:0002984), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONE-SHAPED EPIPHYSIS OF THE 1ST METACARPAL(HP:0010017), HYPOPLASTIC TIBIA(HP:0005736), FLATTENED METATARSAL AND METACARPAL HEADS(HP:0005194), NARROW CHEST(HP:0000774), SHORT RIBS(HP:0000773), OVOID VERTEBRAL BODIES(HP:0003300), GENU VARUM(HP:0002970), RADIAL DEVIATION OF THE 4TH FINGER(HP:0009279), CONE-SHAPED CAPITAL FEMORAL EPIPHYSES(HP:0008789), PECTUS CARINATUM(HP:0000768), APLASIA OF THE DISTAL INTERPHALANGEAL CREASES(HP:0001032), HYPOPLASTIC/SMALL PROXIMAL PHALANX OF THE HALLUX(HP:0010107), COXA VARA(HP:0002812), CUPPED RIBS(HP:0000887), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), BROAD NAILS(HP:0001821), HYPOPLASIA OF THE ULNA(HP:0003022), SHORT STATURE, DISPROPORTIONATE(HP:0003498), SHORT FEMORAL NECK(HP:0003032), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), DELAYED MATURATION/DELAYED OSSIFICATION OF CARPAL BONES(HP:0001216), LARGE DISTAL FEMORAL EPIPHYSES(HP:0006438), DYSPLASTIC FEMORAL HEAD(HP:0010575), SMALL EPIPHYSES OF THE METACARPALS(HP:0009194), SMALL, FLARED ILIAC WINGS(HP:0003181), HYPOPLASTIC/SMALL PROXIMAL PHALANX OF THE THUMB(HP:0009638), RELATIVE MACROCEPHALY(HP:0004482), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), SHORT FEMUR(HP:0003097), FIBULAR OVERGROWTH(HP:0003099), HETEROGENEOUS(HP:0001425), HYPOPLASIA OF THE PROXIMAL PHALANGES OF THE HAND(HP:0010241), PECTUS EXCAVATUM(HP:0000767), LUMBAR HYPERLORDOSIS(HP:0002938), HUMERAL HYPOPLASIA(HP:0005792), SCOLIOSIS(HP:0002650), IVORY AND CONE-SHAPED EPIPHYSES(HP:0006078), RADIAL DEVIATION OF THE 3RD FINGER(HP:0009462), DISTAL SYMPHALANGISM(HP:0001204), RADIAL DEVIATION OF THE 2ND FINGER(HP:0009467), CONE-SHAPED METACARPAL EPIPHYSES(HP:0006059)]
3561	IL2RG	[ABNORMALITY OF THE NECK(HP:0000464), ABNORMALITY OF THE MOUTH(HP:0000153), RECURRENT BACTERIAL MENINGITIS(HP:0007274), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HEPATOMEGALY(HP:0002240), CHRONIC DIARRHEA(HP:0002028), DECREASED NUMBER OF CD8+ T CELLS(HP:0005415), OTITIS MEDIA(HP:0000388), DECREASED NUMBER OF CD4+ T CELLS(HP:0005407), SKIN RASH(HP:0000988), AGAMMAGLOBULINEMIA(HP:0004432), COMBINED IMMUNODEFICIENCY(HP:0005387), FAILURE TO THRIVE(HP:0001508), BRONCHITIS(HP:0002837), SINUSITIS(HP:0000246), PNEUMONIA(HP:0002090), SEVERE COMBINED IMMUNODEFICIENCY(HP:0004430), FREQUENT BACTERIAL, FUNGAL AND VIRAL INFECTIONS(HP:0005380), ABNORMALITY OF THE THYMUS(HP:0000777)]
3563	IL3RA	[HEMATOLOGICAL ABNORMALITY(HP:0001871)]
3593	IL12B	[SALMONELLA OSTEOMYELITIS(HP:0005661), HEMATOLOGICAL ABNORMALITY(HP:0001871), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438)]
3614	IMPDH1	[ABSENT CONE AND ROD FUNCTIONS BY ELECTRORETINOGRAM(HP:0008280), RETINITIS PIGMENTOSA(HP:0000510), FISHNET RETINAL PIGMENTATION(HP:0007801), CONSTRICTED VISUAL FIELDS(HP:0001133), EARLY ONSET(HP:0003593), NIGHT BLINDNESS(HP:0000662), RETINAL 'BONE CORPUSCLE' PIGMENTATION(HP:0007644), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
3621	ING1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SQUAMOUS CELL CARCINOMA(HP:0002860)]
3630	INS	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DIABETES MELLITUS(HP:0000819), PROMINENT METOPIC SUTURE(HP:0005487), SEIZURES(HP:0001250), DOWNTURNED CORNERS OF MOUTH(HP:0002714), IMMUNOLOGICAL ABNORMALITY(HP:0002715), SMALL, SHORT NOSE(HP:0003192), DEVELOPMENTAL RETARDATION(HP:0001263), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), KETOACIDOSIS(HP:0001993), LOW BIRTH WEIGHT(HP:0001518), BETA-CELL DYSFUNCTION(HP:0006279), LONG PHILTRUM(HP:0000343), CLINODACTYLY OF HANDS(HP:0001157), PERIPHERAL NEUROPATHY(HP:0009830), NARES, ANTEVERTED(HP:0000463), HYPSARRHYTHMIA(HP:0002521), HYPERGLYCEMIA(HP:0003074), PTOSIS(HP:0000508), LIMB CONTRACTURES(HP:0003121), MUSCLE WEAKNESS(HP:0001324), ABNORMALITY OF THE EARS(HP:0000598)]
3640	INSL3	[RENAL AGENESIS(HP:0000104), CRYPTORCHIDISM(HP:0000028)]
3643	INSR	[DELAYED SKELETAL MATURATION(HP:0002750), SMALL FACE(HP:0000274), PROMINENT NIPPLES(HP:0004405), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INSULIN-RESISTANT DIABETES MELLITUS(HP:0000831), COARSE FACIAL FEATURES(HP:0000280), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), PRECOCIOUS PUBERTY(HP:0000826), ABDOMINAL DISTENTION(HP:0003270), HYPERINSULINEMIA, FASTING(HP:0008283), RECURRENT INFECTIONS(HP:0002719), CHOLESTASIS(HP:0001396), PREMATURE ERUPTION OF TEETH(HP:0006288), ENLARGED PENIS(HP:0000040), BITEMPORAL NARROWING(HP:0000314), HEPATIC FIBROSIS(HP:0001395), CLITOROMEGALY(HP:0000057), PROMINENT EYES(HP:0000536), MANDIBULAR PROGNATHIA(HP:0000303), AMYOTROPHY(HP:0003202), LARGE FEET(HP:0001833), HYPERPROLACTINEMIA(HP:0000870), LOW-SET EARS(HP:0000369), MENSTRUAL IRREGULARITIES(HP:0000858), HYPOGLYCEMIC COMA(HP:0001325), ELFIN FACIES(HP:0004428), DIABETIC KETOACIDOSIS(HP:0008253), ACANTHOSIS NIGRICANS(HP:0000956), DRY SKIN(HP:0000958), FASTING HYPOGLYCEMIA(HP:0003162), LARGE EARS(HP:0000400), SUPERNUMERARY TEETH(HP:0000672), HIGH-ARCHED PALATE(HP:0000156), POLYCYSTIC OVARIES(HP:0000147), PATCHES(HP:0200033), SEVERE FAILURE TO THRIVE(HP:0001525), FULL LIPS(HP:0000170), ISLETS OF LANGERHANS HYPERPLASIA(HP:0004510), EXOPHTHALMOS(HP:0000645), DEVELOPMENTAL RETARDATION(HP:0001263), LOW BIRTH WEIGHT(HP:0001518), PRENATAL GROWTH DEFICIENCY(HP:0001515), MACROSTOMIA(HP:0000181), HETEROGENEOUS(HP:0001425), BRACHYDACTYLY(HP:0001156), DECREASED BODY HEIGHT(HP:0004322), LARGE HANDS(HP:0001176), GINGIVAL HYPERPLASIA(HP:0000212), NEOPLASIA(HP:0002664), LIPODYSTROPHY(HP:0009125), HYPERGLYCEMIA(HP:0003074), ADIPOSE TISSUE LOSS(HP:0008887), HYPOGLYCEMIA(HP:0001943), NAIL DYSPLASIA(HP:0002164), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), LOSS OF CONSCIOUSNESS(HP:0007185), SEIZURES, HYPOGLYCEMIC(HP:0002173), GENERALIZED HYPERTRICHOSIS(HP:0004554), ACRAL HYPERTROPHY(HP:0008856), HYPERKERATOSIS(HP:0000962)]
3651	PDX1	[DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXOCRINE PANCREATIC INSUFFICIENCY(HP:0001738), INTRAUTERINE GROWTH RETARDATION(HP:0001511), PANCREATIC HYPOPLASIA(HP:0002594), EARLY ONSET(HP:0003593)]
3655	ITGA6	[ESOPHAGEAL ATRESIA(HP:0002032), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTRACTABLE DIARRHEA(HP:0002041), CONGENITAL PYLORIC ATRESIA(HP:0004399), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), DEATH IN INFANCY(HP:0001522), ARTHROGRYPOSIS(HP:0001390), ONSET IN UTERO(HP:0003660), ECTROPION(HP:0000656), BLISTERING, GENERALIZED(HP:0007467), SKIN CLEAVAGE IN THE LAMINA LUCIDA(HP:0003341), FRAGILE SKIN(HP:0001030), ELEVATED ALPHA-FETOPROTEIN(HP:0006254), NAIL DYSPLASIA(HP:0002164), MILIA(HP:0001056), APLASIA CUTIS CONGENITA(HP:0001057), AXILLARY PTERYGIA(HP:0001060), GENITOURINARY ABNORMALITY(HP:0000119), POLYHYDRAMNIOS(HP:0001561), ANONYCHIA(HP:0001798), ATROPHIC SCARS(HP:0001075)]
3659	IRF1	[CHRONIC ATROPHIC GASTRITIS(HP:0002582), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086)]
3664	IRF6	[TALIPES EQUINOVARUS(HP:0001762), CLEFT LIP(HP:0000204), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LOWER LIP PIT(HP:0000196), BIFID UVULA(HP:0000193), HYPOPLASTIC UTERUS(HP:0000013), CRYPTORCHIDISM(HP:0000028), ISOLATED CASES(HP:0001420), CLEFT PALATE(HP:0000175), SCROTAL HYPOPLASIA(HP:0000046), HYPODONTIA(HP:0000668), PYRAMIDAL SKINFOLD EXTENDING FROM THE BASE TO THE TOP OF THE NAILS(HP:0009758), HYPOPLASTIC VAGINA(HP:0008726), INTERCRURAL PTERYGIUM(HP:0009757), BIFID SCROTUM(HP:0000048), POPLITEAL PTERYGIUM(HP:0009756), ANKYLOBLEPHARON(HP:0009755), SPINA BIFIDA OCCULTA(HP:0003298), SYNGNATHIA(HP:0009754), HYPOPLASTIC LABIA MAJORA(HP:0000059), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554), DEMENTIA(HP:0000726)]
3673	ITGA2	[NEONATAL ALLOIMMUNE THROMBOCYTOPENIA(HP:0004809), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROLONGED BLEEDING TIME(HP:0003010)]
3674	ITGA2B	[GLANZMANN THROMBASTHENIA(HP:0001975), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MENORRHAGIA(HP:0000132), ABNORMAL PLATELET AGGREGATION(HP:0003540), GASTROINTESTINAL HEMORRHAGE(HP:0002239), ECCHYMOSES(HP:0000978), PURPURA(HP:0000979), PROLONGED BLEEDING TIME(HP:0003010), INTRACRANIAL HEMORRHAGE(HP:0002170), GINGIVAL BLEEDING(HP:0000225), EPISTAXIS(HP:0000421)]
3689	ITGB2	[LEUKOCYTOSIS(HP:0001974), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RECTAL ABSCESS(HP:0005224), RECURRENT STAPHYLOCOCCAL AND GRAM-NEGATIVE INFECTIONS(HP:0005420), METABOLISM ABNORMALITY(HP:0001939), GINGIVITIS(HP:0000230), PERIODONTITIS(HP:0000165)]
3690	ITGB3	[NEONATAL ALLOIMMUNE THROMBOCYTOPENIA(HP:0004809), GLANZMANN THROMBASTHENIA(HP:0001975), POST-TRANSFUSION THROMBOCYTOPENIA(HP:0004813), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MENORRHAGIA(HP:0000132), ABNORMAL PLATELET AGGREGATION(HP:0003540), BLEEDING DIATHESIS(HP:0001892), GASTROINTESTINAL HEMORRHAGE(HP:0002239), PURPURA(HP:0000979), INTRACRANIAL HEMORRHAGE(HP:0002170), GINGIVAL BLEEDING(HP:0000225), EPISTAXIS(HP:0000421)]
3691	ITGB4	[ESOPHAGEAL ATRESIA(HP:0002032), BLISTERING, GENERALIZED(HP:0007467), HETEROGENEOUS(HP:0001425), JOINT CONTRACTURES(HP:0001372), ABNORMALITY OF THE FEET(HP:0001760), SKIN CLEAVAGE IN THE LAMINA LUCIDA(HP:0003341), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTRACTABLE DIARRHEA(HP:0002041), FRAGILE SKIN(HP:0001030), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), ELEVATED ALPHA-FETOPROTEIN(HP:0006254), PALMAR HYPERHIDROSIS(HP:0006089), CONGENITAL PYLORIC ATRESIA(HP:0004399), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), NAIL DYSPLASIA(HP:0002164), PLANTAR HYPERKERATOSIS(HP:0007556), DEATH IN INFANCY(HP:0001522), MILIA(HP:0001056), APLASIA CUTIS CONGENITA(HP:0001057), AXILLARY PTERYGIA(HP:0001060), FRAGILE NAILS(HP:0001808), GENITOURINARY ABNORMALITY(HP:0000119), HYPODONTIA(HP:0000668), ARTHROGRYPOSIS(HP:0001390), CARIOUS TEETH(HP:0000670), POLYHYDRAMNIOS(HP:0001561), ONSET IN UTERO(HP:0003660), AUTOSOMAL DOMINANT MUTATION OF KERATIN 5 (KRT5)(HP:0001447), ANONYCHIA(HP:0001798), ATROPHIC SCARS(HP:0001075), EPIDERMOLYSIS BULLOSA INVOLVING HANDS AND FEET ONLY(HP:0007446), ECTROPION(HP:0000656), ONSET IN CHILDHOOD(HP:0003578), MILD FINGER CONTRACTURES(HP:0006218)]
3702	ITK	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LYMPHOMA(HP:0002665), HEPATOMEGALY(HP:0002240), LYMPHADENOPATHY(HP:0002716), RECURRENT INFECTIONS(HP:0002719), ELEVATED ERYTHROCYTE SEDIMENTATION RATE(HP:0003565), PANCYTOPENIA(HP:0001876), SPLENOMEGALY(HP:0001744), DECREASED IGG LEVEL(HP:0004315), STOMATITIS(HP:0010280), ONSET IN CHILDHOOD(HP:0003578)]
3708	ITPR1	[GAIT ATAXIA(HP:0002066), IMPAIRED SMOOTH PURSUIT(HP:0007772), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LIMB ATAXIA(HP:0002070), TRUNCAL ATAXIA(HP:0002078), VERY SLOW PROGRESSION(HP:0003681), HYPERREFLEXIA(HP:0001347), CEREBELLAR ATAXIA(HP:0001253), GAZE-EVOKED HORIZONTAL NYSTAGMUS(HP:0007979), POSTURAL TREMOR(HP:0002174), ACTION TREMOR(HP:0002345), DYSARTHRIA(HP:0001260), DYSMETRIC SACCADES(HP:0000641), SCANNING SPEECH(HP:0002168), CEREBELLAR ATROPHY(HP:0001272), ONSET IN CHILDHOOD(HP:0003578)]
3712	IVD	[MITOCHONDRIAL INHERITANCE(HP:0001427), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GLYCINURIA(HP:0002931), METABOLIC ACIDOSIS(HP:0001942), LETHARGY(HP:0001254), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), BONE MARROW HYPOPLASIA(HP:0005528), COMA(HP:0001259), DEHYDRATION(HP:0001944), PANCYTOPENIA(HP:0001876), VOMITING(HP:0002013), KETOACIDOSIS(HP:0001993)]
3717	JAK2	[ACUTE MYELOID LEUKEMIA(HP:0004808), LEUKOCYTOSIS(HP:0001974), HYPERTENSION(HP:0000822), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), THROMBOSIS(HP:0001977), INCREASED RED BLOOD CELL MASS(HP:0001898), ABNORMAL PLATELET AGGREGATION(HP:0003540), INCREASED HEMATOCRIT(HP:0001899), INCREASED HEMOGLOBIN(HP:0001900), MYELOPROLIFERATIVE DISORDER(HP:0005547), THROMBOCYTOSIS(HP:0001894), ISOLATED CASES(HP:0001420), FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), GASTROINTESTINAL HEMORRHAGE(HP:0002239), CEREBRAL HEMORRHAGE(HP:0001342), ONSET BEFORE AGE 2 YEARS(HP:0003667), THROMBOCYTOPENIA(HP:0001873), ACROCYANOSIS(HP:0001063), MILD SPLENOMEGALY(HP:0001745), INCREASED MEGAKARYOCYTE PRECURSOR CELLS(HP:0005513), CEREBRAL ISCHEMIA(HP:0002637), BUDD-CHIARI SYNDROME(HP:0002639)]
3728	JUP	[CARDIOMEGALY(HP:0001640), HETEROGENEOUS(HP:0001425), SUDDEN DEATH(HP:0001699), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), WOOLLY HAIR(HP:0002224), PALMOPLANTAR KERATODERMA(HP:0000982), SYNCOPE(HP:0001279), EPISODES OF VENTRICULAR TACHYCARDIA(HP:0005141), CURLY HAIR(HP:0002212)]
3730	KAL1	[HYPOTHALAMIC GONADOTROPIN-RELEASING HORMONE (GNRH) DEFICIENCY(HP:0003164), PES CAVUS(HP:0001761), IMPAIRED FSH AND LH SECRETION(HP:0003295), HIGH-ARCHED PALATE(HP:0000156), TESTICULAR ATROPHY(HP:0000029), CRYPTORCHIDISM(HP:0000028), ATAXIA(HP:0001251), SPARSE PUBIC HAIR(HP:0002225), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), GYNECOMASTIA(HP:0000771), MICROPENIS(HP:0000054), EUNUCHOID HABITUS(HP:0003782), LEYDIG CELL INSENSITIVITY TO GONADOTROPIN(HP:0002929), ANOSMIA(HP:0000458), X-LINKED INHERITANCE(HP:0001417), OLFACTORY LOBE AGENESIS(HP:0001341), MIRROR HAND MOVEMENTS (BIMANUAL SYNKINESIA)(HP:0001335), UNILATERAL RENAL AGENESIS(HP:0000122)]
3732	CD82	[ABNORMALITY OF THE NAILS(HP:0001597), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3736	KCNA1	[SPASTIC GAIT(HP:0002064), ABNORMALITY OF THE HAND(HP:0001155), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ATAXIA, EPISODIC(HP:0002131), HYPERREFLEXIA(HP:0001347), BABINSKI SIGN(HP:0003487), TREMOR(HP:0001337), ABNORMALITY OF MUSCULATURE(HP:0003011), DYSARTHRIA(HP:0001260), MYOKYMIA(HP:0002411), INCREASED SERUM CREATINE KINASE(HP:0002147), ONSET IN CHILDHOOD(HP:0003578)]
3748	KCNC3	[GAIT ATAXIA(HP:0002066), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LIMB ATAXIA(HP:0002070), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), VARIABLE AGE AT ONSET(HP:0003618), NYSTAGMUS(HP:0000639), HYPERREFLEXIA(HP:0001347), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), LIMB DYSMETRIA(HP:0002406), MUSCULAR HYPOTONIA(HP:0001252), SLOW PROGRESSION(HP:0003677), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), MOTOR RETARDATION(HP:0001270), CEREBELLAR ATROPHY(HP:0001272)]
3753	KCNE1	[HETEROGENEOUS(HP:0001425), TORSADE DE POINTES(HP:0001664), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), PROLONGED QT INTERVAL ON EKG(HP:0001657), SYNCOPE(HP:0001279)]
3757	KCNH2	[HETEROGENEOUS(HP:0001425), TORSADE DE POINTES(HP:0001664), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), PROLONGED QT INTERVAL ON EKG(HP:0001657), SYNCOPE(HP:0001279)]
3758	KCNJ1	[OCCASIONAL HYPOMAGNESEMIA(HP:0003284), HYPERPROSTAGLANDINURIA(HP:0003527), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LARGE EYES(HP:0001090), MACROCEPHALY(HP:0000256), ABNORMAL PLATELET AGGREGATION(HP:0003540), GENERALIZED MUSCLE WEAKNESS(HP:0003324), INCREASED SERUM PROSTAGLANDIN E(HP:0003566), PREMATURE BIRTH(HP:0001622), TRIANGULAR FACIES(HP:0000325), TETANY(HP:0001281), POLYURIA(HP:0000103), INCREASED PLASMA RENIN(HP:0000848), INCREASED PLASMA ALDOSTERONE(HP:0000859), RENAL JUXTAGLOMERULAR CELL HYPERTROPHY/HYPERPLASIA(HP:0000111), POLYHYDRAMNIOS(HP:0001561), FETAL POLYURIA(HP:0001563), HYPERACTIVE RENIN-ANGIOTENSIN SYSTEM(HP:0000841), NEPHROCALCINOSIS(HP:0000121), PARESTHESIA(HP:0003401), RENAL POTASSIUM WASTING(HP:0000128), LARGE EARS(HP:0000400), HYPOSTHENURIA(HP:0003158), MUSCLE CRAMPS(HP:0003394), CONSTIPATION(HP:0002019), OSTEOPENIA(HP:0000938), CHONDROCALCINOSIS(HP:0000934), SEIZURES(HP:0001250), FRONTAL BOSSING(HP:0002007), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), DIARRHEA(HP:0002014), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), LOW BIRTH WEIGHT(HP:0001518), INCREASED URINARY CHLORIDE(HP:0002914), HETEROGENEOUS(HP:0001425), DECREASED BODY HEIGHT(HP:0004322), INCREASED URINARY POTASSIUM(HP:0003081), POLYDIPSIA(HP:0001959), HYPOKALEMIC METABOLIC ALKALOSIS(HP:0001960), DEHYDRATION(HP:0001944), FEVER(HP:0001945), HYPERCALCIURIA(HP:0002150), HYPOCHLOREMIA(HP:0003113), HYPOKALEMIA(HP:0002900), LOW-TO-NORMAL BLOOD PRESSURE(HP:0002632)]
3759	KCNJ2	[DELAYED SKELETAL MATURATION(HP:0002750), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROMINENT FRONTAL SINUSES(HP:0005478), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), GENERALIZED MUSCLE WEAKNESS(HP:0003324), HYPERTELORISM(HP:0000316), JOINT LAXITY(HP:0001388), FIFTH TOE CLINODACTYLY(HP:0001864), ANTEGONIAL NOTCHING OF MANDIBLE(HP:0003779), SHORT MANDIBULAR RAMI(HP:0003778), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), BROAD FOREHEAD(HP:0000337), PREAURICULAR SINUS(HP:0004467), MILD FACIAL ASYMMETRY(HP:0003775), MANDIBULAR HYPOPLASIA(HP:0000347), PERIODIC PARALYSIS(HP:0003768), HYPOPLASIA OF THE MAXILLA(HP:0000327), TRIANGULAR FACIES(HP:0000325), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), GRACILE LONG BONES(HP:0003061), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), LEARNING DISABILITY(HP:0001328), BIDIRECTIONAL VENTRICULAR ECTOPY(HP:0005147), PERSISTENCE OF DECIDUOUS TEETH(HP:0006341), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), SMALL FEET(HP:0001764), WEAKNESS(HP:0002309), TOE SYNDACTYLY(HP:0001770), OLIGODONTIA(HP:0000677), SCAPULAR WINGING(HP:0003691), HIGH-ARCHED PALATE(HP:0000156), DELAYED ERUPTION OF SECONDARY TEETH(HP:0000696), BULBOUS NASAL TIP(HP:0000443), CLEFT PALATE(HP:0000175), GROWTH ABNORMALITY(HP:0001507), SYNCOPE(HP:0001279), SMALL HANDS(HP:0001165), THIN UPPER LIP(HP:0000219), PALPITATIONS(HP:0001962), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), HYPOKALEMIA(HP:0002900)]
3766	KCNJ10	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RENAL POTASSIUM WASTING(HP:0000128), DYSDIADOCHOKINESIS(HP:0002075), HEARING LOSS, SENSORINEURAL(HP:0000407), ENURESIS(HP:0000805), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), POOR SPEECH(HP:0002465), HYPOMYELINATION(HP:0003429), INTENTION TREMOR(HP:0002080), CEREBELLAR ATROPHY(HP:0001272), HYPOMAGNESEMIA(HP:0002917), DECREASED BODY HEIGHT(HP:0004322), POLYDIPSIA(HP:0001959), AXONAL NEUROPATHY(HP:0003477), POLYURIA(HP:0000103), INCREASED PLASMA RENIN(HP:0000848), INCREASED PLASMA ALDOSTERONE(HP:0000859), ALKALOSIS(HP:0001948), HYPOCALCIURIA(HP:0003127), HYPOKALEMIA(HP:0002900)]
3767	KCNJ11	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), DIABETES MELLITUS(HP:0000819), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), PROMINENT METOPIC SUTURE(HP:0005487), LARGE FOR GESTATIONAL AGE(HP:0001520), SEIZURES(HP:0001250), DOWNTURNED CORNERS OF MOUTH(HP:0002714), IMMUNOLOGICAL ABNORMALITY(HP:0002715), SMALL, SHORT NOSE(HP:0003192), DEVELOPMENTAL RETARDATION(HP:0001263), ISLET CELL HYPERPLASIA, DIFFUSE(HP:0001736), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), KETOACIDOSIS(HP:0001993), LOW BIRTH WEIGHT(HP:0001518), BETA-CELL DYSFUNCTION(HP:0006279), LONG PHILTRUM(HP:0000343), HETEROGENEOUS(HP:0001425), CLINODACTYLY OF HANDS(HP:0001157), PERIPHERAL NEUROPATHY(HP:0009830), NARES, ANTEVERTED(HP:0000463), HYPSARRHYTHMIA(HP:0002521), HYPERGLYCEMIA(HP:0003074), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LIMB CONTRACTURES(HP:0003121), MUSCLE WEAKNESS(HP:0001324), ABNORMALITY OF THE EARS(HP:0000598)]
3769	KCNJ13	[CATARACT(HP:0000518), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3778	KCNMA1	[GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INVOLUNTARY DYSTONIC OR CHOREIFORM MOVEMENTS(HP:0007166), ONSET IN CHILDHOOD(HP:0003578)]
3784	KCNQ1	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SUDDEN CARDIAC DEATH(HP:0001645), PROLONGED QT INTERVAL ON EKG(HP:0001657), ATRIAL FIBRILLATION, ISOLATED(HP:0001715), THROMBOEMBOLIC STROKE MAY OCCUR(HP:0001727), TACHYCARDIA(HP:0001649), CONGENITAL SENSORINEURAL HEARING LOSS(HP:0008527), IRREGULAR HEART BEAT(HP:0001721), TORSADE DE POINTES(HP:0001664), SYNCOPE(HP:0001279)]
3785	KCNQ2	[HETEROGENEOUS(HP:0001425), FEBRILE SEIZURES(HP:0002373), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), FOCAL CLONIC SEIZURES(HP:0002266), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), APNEA DURING SEIZURE SPELLS(HP:0002794), VARIABLE PHENOTYPE(HP:0003813), PSYCHOMOTOR RETARDATION(HP:0001255), INCREASED RISK OF SEIZURES IN CHILDHOOD OR ADULTHOOD (11-16%)(HP:0002479), MYALGIA(HP:0003326), SEIZURES, AFEBRILE(HP:0002348), FEVER(HP:0001945), MYOKYMIA(HP:0002411), EPILEPSY(HP:0001275)]
3786	KCNQ3	[HETEROGENEOUS(HP:0001425), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), INCREASED RISK OF SEIZURES IN CHILDHOOD OR ADULTHOOD (11-16%)(HP:0002479), FOCAL CLONIC SEIZURES(HP:0002266), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SEIZURES, AFEBRILE(HP:0002348), EPILEPSY(HP:0001275)]
3791	KDR	[SPORADIC(HP:0003745), CAPILLARY HEMANGIOMAS(HP:0005306), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
3795	KHK	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
3798	KIF5A	[SPASTIC GAIT(HP:0002064), PES CAVUS(HP:0001761), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), URINARY URGENCY(HP:0000012), LIMB MUSCLE WEAKNESS(HP:0003690), SPHINCTER DISTURBANCE(HP:0000018), URINARY INCONTINENCE(HP:0000020), ANKLE OR KNEE CLONUS(HP:0002325), LOWER LIMB SPASTICITY(HP:0002061), HYPERREFLEXIA(HP:0001347), AGE OF ONSET(HP:0003674), PROGRESSIVE DISORDER(HP:0003676), SPASTIC PARAPLEGIA(HP:0001258), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), HETEROGENEOUS(HP:0001425), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166), SCOLIOSIS(HP:0002650)]
3815	KIT	[ACUTE MYELOID LEUKEMIA(HP:0004808), HYPERPIGMENTATION(HP:0000953), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), URTICARIA(HP:0001025), GONADAL DYSGENESIS(HP:0000133), CONSTIPATION(HP:0002019), LARGE HANDS(HP:0001176), CRYPTORCHIDISM(HP:0000028), ISOLATED CASES(HP:0001420), FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), NEUROFIBROMAS(HP:0001067), METABOLISM ABNORMALITY(HP:0001939), ONSET BEFORE AGE 2 YEARS(HP:0003667), TERATOMA(HP:0009792), DYSPHAGIA(HP:0002015), INTESTINAL OBSTRUCTION(HP:0005214)]
3818	KLKB1	[PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), HEMATOLOGICAL ABNORMALITY(HP:0001871), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
3845	KRAS	[PULMONIC STENOSIS(HP:0001642), DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), OPTIC NERVE DYSPLASIA(HP:0001093), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), SLOW-GROWING HAIR(HP:0002217), ATRIAL SEPTAL DEFECT(HP:0001631), PREMATURE BIRTH(HP:0001622), CURLY HAIR(HP:0002212), CAVERNOUS HEMANGIOMA(HP:0001048), NYSTAGMUS(HP:0000639), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), ABSENT EYEBROWS AND EYELASHES(HP:0002288), POLYHYDRAMNIOS(HP:0001561), MULTIPLE PLANTAR CREASES(HP:0008113), HYDRONEPHROSIS(HP:0000126), SEVERE ATOPIC DERMATITIS(HP:0007533), EARLOBE CREASE(HP:0009908), HIGH-ARCHED PALATE(HP:0000156), MUSCULAR HYPOTONIA(HP:0001252), CHRONIC ATROPHIC GASTRITIS(HP:0002582), SEIZURES(HP:0001250), EXOPHTHALMOS(HP:0000645), ABNORMALITY OF THE TEETH(HP:0000164), SPLENOMEGALY(HP:0001744), MULTIPLE PALMAR CREASES(HP:0006114), RESPIRATORY ABNORMALITY(HP:0002086), RELATIVE MACROCEPHALY(HP:0004482), HYPERTONIA(HP:0001276), SUBMUCOUS CLEFT PALATE(HP:0000176), OCULOMOTOR APRAXIA(HP:0000657), CLINODACTYLY OF HANDS(HP:0001157), ALVEOLAR CELL CARCINOMA(HP:0006519), PECTUS EXCAVATUM(HP:0000767), CEREBRAL CORTICAL ATROPHY(HP:0002120), MICROGNATHIA(HP:0000210), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), HYPEREXTENSIBILITY OF THE FINGER JOINTS(HP:0001187), HYDROCEPHALUS(HP:0000238), ONSET IN UTERO OR AT BIRTH(HP:0003601), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), BREAST CANCER(HP:0003002), DOLICHOCEPHALY(HP:0000268), PROMINENT PHILTRUM(HP:0000305), BITEMPORAL NARROWING(HP:0000314), HYPERTELORISM(HP:0000316), PECTUS CARINATUM(HP:0000768), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), HYPOPLASTIC FRONTAL LOBES(HP:0007333), POSTERIORLY ROTATED EARS(HP:0000358), HEARING LOSS(HP:0000365), ICHTHYOSIS(HP:0000955), BLADDER CARCINOMA(HP:0002862), CONSTIPATION(HP:0002019), GASTROESOPHAGEAL REFLUX(HP:0002020), OSTEOPENIA(HP:0000938), FEEDING DIFFICULTIES(HP:0002022), SHORT, UPTURNED NOSE(HP:0000441), BULBOUS NASAL TIP(HP:0000443), FRONTAL BOSSING(HP:0002007), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), SHALLOW ORBITAL RIDGES(HP:0005337), HETEROGENEOUS(HP:0001425), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), DECREASED BODY HEIGHT(HP:0004322), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), HYPERKERATOSIS(HP:0000962), STRABISMUS(HP:0000486)]
3848	KRT1	[ERYTHRODERMA(HP:0001019), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ICHTHYOSIS(HP:0000955), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), ABNORMALITY OF THE NAILS(HP:0001597), HAIR ABNORMALITY(HP:0001595), CONGENITAL ICHTHYOSIS(HP:0007484), NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA(HP:0007404), EPIDERMOLYTIC HYPERKERATOSIS(HP:0007475), INCREASED IGE LEVEL(HP:0003212), LOCALIZED EPIDERMOLYTIC HYPERKERATOSIS(HP:0007559), ERYTHEMA(HP:0010783), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
3849	KRT2	[CONGENITAL ICHTHYOSIS(HP:0007484), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ICHTHYOSIS(HP:0000955)]
3850	KRT3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FINE PUNCTATE CORNEAL OPACITIES(HP:0007856), NONPROGRESSIVE CORNEAL DYSTROPHY(HP:0007775), JUVENILE EPITHELIAL CORNEAL DYSTROPHY(HP:0007755), NONPROGRESSIVE DISORDER(HP:0003680)]
3851	KRT4	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ORAL LEUKOPLAKIA(HP:0002745)]
3852	KRT5	[BLISTERING, GENERALIZED(HP:0007467), RETICULAR HYPERPIGMENTATION(HP:0007588), PUNCTATE PALMOPLANTAR HYPERKERATOSIS(HP:0007530), PROGRESSIVE RETICULATE HYPERPIGMENTATION(HP:0007456), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), ONSET IN NEONATAL PERIOD(HP:0003623), HYPERACTIVITY(HP:0000752), NAIL DYSPLASIA(HP:0002164), METABOLISM ABNORMALITY(HP:0001939), 'MOTTLED' PIGMENTATION OF THE TRUNK AND PROXIMAL EXTREMITIES(HP:0007438), BLISTERS ESP ON PALMS, SOLES, PERIORAL, TRUNK AND NECK(HP:0007496), DISCRETE 2 TO 5-MM HYPER- AND HYPOPIGMENTED MACULES(HP:0007494), MILIA(HP:0001056), GROWTH RETARDATION(HP:0001510), THICKENED NAILS(HP:0001805), AUTOSOMAL DOMINANT MUTATION OF KERATIN 5 (KRT5)(HP:0001447), ONSET IN ADOLESCENCE(HP:0003590), EPIDERMOLYSIS BULLOSA INVOLVING HANDS AND FEET ONLY(HP:0007446), ONSET IN CHILDHOOD(HP:0003578), HYPERKINESIS(HP:0002487)]
3853	KRT6A	[FOLLICULAR HYPERKERATOSIS(HP:0007502), HETEROGENEOUS(HP:0001425), ONYCHOGRYPOSIS(HP:0001819), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ORAL LEUKOPLAKIA(HP:0002745), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
3854	KRT6B	[HETEROGENEOUS(HP:0001425), PALMOPLANTAR HYPERHIDROSIS(HP:0007410), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DRY, SPARSE SCALP HAIR(HP:0004534), NEONATAL TEETH(HP:0000695), HOARSE VOICE(HP:0001609), NAIL DYSPLASIA(HP:0002164), SPARSE EYEBROWS(HP:0000535), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
3857	KRT9	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCREASED IGE LEVEL(HP:0003212), LOCALIZED EPIDERMOLYTIC HYPERKERATOSIS(HP:0007559), PALMOPLANTAR KERATODERMA(HP:0000982), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
3858	KRT10	[ERYTHRODERMA(HP:0001019), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ICHTHYOSIS(HP:0000955), ERYTHEMA(HP:0010783), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), ABNORMALITY OF THE NAILS(HP:0001597), CONGENITAL ICHTHYOSIS(HP:0007484), HAIR ABNORMALITY(HP:0001595), PALMOPLANTAR HYPERKERATOSIS(HP:0000972), PIGMENTED NEVI(HP:0000995), EPIDERMOLYTIC HYPERKERATOSIS(HP:0007475)]
3859	KRT12	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FINE PUNCTATE CORNEAL OPACITIES(HP:0007856), NONPROGRESSIVE CORNEAL DYSTROPHY(HP:0007775), JUVENILE EPITHELIAL CORNEAL DYSTROPHY(HP:0007755), NONPROGRESSIVE DISORDER(HP:0003680)]
3860	KRT13	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ORAL LEUKOPLAKIA(HP:0002745)]
3861	KRT14	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOHIDROSIS/HYPERHIDROSIS(HP:0007550), LOSS OF TEETH(HP:0000701), VARIABLE SEVERITY(HP:0003814), BLISTERS ESP ON PALMS, SOLES, PERIORAL, TRUNK AND NECK(HP:0007496), CARIOUS TEETH(HP:0000670), GROWTH RETARDATION(HP:0001510), ABNORMALITY OF THE EYES(HP:0000478), BLISTERING, GENERALIZED(HP:0007467), RETICULAR HYPERPIGMENTATION(HP:0007588), ONSET IN NEONATAL PERIOD(HP:0003623), NAIL DYSPLASIA(HP:0002164), METABOLISM ABNORMALITY(HP:0001939), MILIA(HP:0001056), ALOPECIA OF SCALP(HP:0002293), PALMOPLANTAR KERATODERMA(HP:0000982), FRAGILE NAILS(HP:0001808), THICKENED NAILS(HP:0001805), ADERMATOGLYPHIA(HP:0007455), AUTOSOMAL DOMINANT MUTATION OF KERATIN 5 (KRT5)(HP:0001447), ONSET AT BIRTH OR EARLY CHILDHOOD(HP:0003595), PALMOPLANTAR HYPERKERATOSIS(HP:0000972), EPIDERMOLYSIS BULLOSA INVOLVING HANDS AND FEET ONLY(HP:0007446), HYPOHIDROSIS(HP:0000966)]
3868	KRT16	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ORAL LEUKOPLAKIA(HP:0002745), NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA(HP:0007404), INCREASED IGE LEVEL(HP:0003212), FOLLICULAR HYPERKERATOSIS(HP:0007502), ONYCHOGRYPOSIS(HP:0001819), LOCALIZED EPIDERMOLYTIC HYPERKERATOSIS(HP:0007559), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
3872	KRT17	[HETEROGENEOUS(HP:0001425), PALMOPLANTAR HYPERHIDROSIS(HP:0007410), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DRY, SPARSE SCALP HAIR(HP:0004534), NEONATAL TEETH(HP:0000695), HOARSE VOICE(HP:0001609), NAIL DYSPLASIA(HP:0002164), SPARSE EYEBROWS(HP:0000535), ONSET BEFORE ADOLESCENCE(HP:0003659), PALMOPLANTAR HYPERKERATOSIS(HP:0000972), ONSET IN ADOLESCENCE(HP:0003590)]
3887	KRT81	[HETEROGENEOUS(HP:0001425), PERIFOLLICULAR HYPERKERATOSIS(HP:0007468), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF HAIR TEXTURE(HP:0010719), ALOPECIA(HP:0001596), VARIABLE SEVERITY(HP:0003814), HYPOTRICHOSIS(HP:0001006), NAIL DYSPLASIA(HP:0002164), METABOLISM ABNORMALITY(HP:0001939), ONSET IN INFANCY(HP:0003576)]
3889	KRT83	[HETEROGENEOUS(HP:0001425), PERIFOLLICULAR HYPERKERATOSIS(HP:0007468), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF HAIR TEXTURE(HP:0010719), ALOPECIA(HP:0001596), VARIABLE SEVERITY(HP:0003814), HYPOTRICHOSIS(HP:0001006), NAIL DYSPLASIA(HP:0002164), METABOLISM ABNORMALITY(HP:0001939), ONSET IN INFANCY(HP:0003576)]
3891	KRT85	[CONGENITAL ONYCHODYSTROPHY(HP:0008394), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HAIR-NAIL ECTODERMAL DYSPLASIA(HP:0007436), ABNORMALITY OF THE NECK(HP:0000464), PILI TORTI(HP:0003777), ONYCHOLYSIS(HP:0001806), TEMPORAL HYPOTRICHOSIS(HP:0004524)]
3892	KRT86	[HETEROGENEOUS(HP:0001425), PERIFOLLICULAR HYPERKERATOSIS(HP:0007468), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF HAIR TEXTURE(HP:0010719), ALOPECIA(HP:0001596), VARIABLE SEVERITY(HP:0003814), HYPOTRICHOSIS(HP:0001006), NAIL DYSPLASIA(HP:0002164), METABOLISM ABNORMALITY(HP:0001939), ONSET IN INFANCY(HP:0003576)]
3897	L1CAM	[TALIPES EQUINOVARUS(HP:0001762), KYPHOSIS(HP:0002808), PES CAVUS(HP:0001761), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), APHASIA(HP:0002381), DECREASED BODY HEIGHT(HP:0004322), JOINT CONTRACTURES OF THE THUMB(HP:0009600), ENTEROCOLITIS(HP:0004387), CONSTIPATION(HP:0002019), MACROCEPHALY(HP:0000256), VENTRICULOMEGALY(HP:0002119), ABDOMINAL DISTENTION(HP:0003270), HYPOPLASIA OF INFERIOR VERMIS AND CEREBELLUM(HP:0005724), CONGENITAL MEGACOLON(HP:0002251), X-LINKED RECESSIVE INHERITANCE(HP:0001419), BARIUM ENEMA SHOWS TRANSITION ZONE BETWEEN AGANGLIONIC CONTRACTED SEGMENT AND DILATED PROXIMAL BOWEL(HP:0002606), HYPODYSPLASIA OF THE CORPUS CALLOSUM(HP:0006849), LORDOSIS(HP:0002939), ADDUCTED THUMBS(HP:0001181), LOWER LIMB SPASTICITY(HP:0002061), HYDROCEPHALUS(HP:0000238), PARTIAL AGENESIS OF THE CORPUS CALLOSUM(HP:0001338), METABOLISM ABNORMALITY(HP:0001939), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), UNUSUAL FACIES(HP:0002004), CORTICOSPINAL TRACT HYPOPLASIA(HP:0007016), ABSENT SEPTUM PELLUCIDUM(HP:0001331), SPASTIC PARAPLEGIA(HP:0001258), AQUEDUCTAL STENOSIS(HP:0002410), VOMITING(HP:0002013), MICROCEPHALY(HP:0000252), PARAPLEGIA(HP:0010550), STRABISMUS(HP:0000486), SHUFFLING GAIT(HP:0002362)]
3908	LAMA2	[KYPHOSCOLIOSIS(HP:0002751), JOINT CONTRACTURES(HP:0001372), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FEEDING DIFFICULTIES(HP:0002022), MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES(HP:0003544), MUSCULAR DYSTROPHY, CONGENITAL(HP:0003793), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), ONSET AT BIRTH OR EARLY INFANCY(HP:0003666), MOTOR RETARDATION(HP:0001270), INCREASED CONNECTIVE TISSUE(HP:0009025), HYPODENSITY OF CEREBRAL WHITE MATTER ON MRI(HP:0007103), INCREASED CREATINE KINASE(HP:0003078), AREFLEXIA(HP:0001284), ABNORMAL CORTICAL GYRATION(HP:0002536), MUSCLE WEAKNESS, SEVERE(HP:0008979)]
3909	LAMA3	[ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RECURRENT LOSS OF TOENAILS AND FINGERNAILS(HP:0008390), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), PYLORIC STENOSIS(HP:0002021), SKIN ULCER(HP:0200042), PALMAR HYPERHIDROSIS(HP:0006089), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CONGENITAL LOCALIZED ABSENCE OF SKIN(HP:0007383), WEAK CRY(HP:0001612), DEATH IN INFANCY(HP:0001522), HOARSE CRY(HP:0001615), HYPODONTIA(HP:0000668), FAILURE TO THRIVE(HP:0001508), CARIOUS TEETH(HP:0000670), ONSET IN UTERO(HP:0003660), ONSET IN CHILDHOOD(HP:0003578), ABNORMALITY OF THE EYES(HP:0000478), HETEROGENEOUS(HP:0001425), SKIN CLEAVAGE IN THE LAMINA LUCIDA(HP:0003341), NAIL DYSPLASIA(HP:0002164), PLANTAR HYPERKERATOSIS(HP:0007556), AMELOGENESIS IMPERFECTA(HP:0000705), MILIA(HP:0001056), FRAGILE NAILS(HP:0001808), ATROPHIC SCARS(HP:0001075), ONSET IN EARLY INFANCY(HP:0003591), MILD FINGER CONTRACTURES(HP:0006218)]
3912	LAMB1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ARACHNODACTYLY(HP:0001166), KNEE CONTRACTURES(HP:0002978), EMPHYSEMA(HP:0002097), METABOLISM ABNORMALITY(HP:0001939), DISLOCATED HIPS(HP:0002827), CARDIAC MALFORMATION(HP:0002564), CUTIS LAXA(HP:0000973), DIAPHRAGMATIC HERNIA(HP:0000776)]
3913	LAMB2	[HYPOPLASIA OF THE CILIARY BODY(HP:0007774), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE PHENOTYPE(HP:0003813), HYPOPLASIA OF THE IRIS(HP:0007676), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), LENTICONUS(HP:0001142), END STAGE RENAL DISEASE(HP:0003774), BLINDNESS(HP:0000618), PROTEINURIA(HP:0000093), ONSET IN NEONATAL PERIOD(HP:0003623), DIFFUSE MESANGIAL SCLEROSIS(HP:0001967), HYPOPROTEINEMIA(HP:0003075), AREFLEXIA(HP:0001284), NEPHROTIC SYNDROME(HP:0000100), EDEMA(HP:0000969)]
3914	LAMB3	[ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), PYLORIC STENOSIS(HP:0002021), PALMAR HYPERHIDROSIS(HP:0006089), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CONGENITAL LOCALIZED ABSENCE OF SKIN(HP:0007383), DEATH IN INFANCY(HP:0001522), HYPODONTIA(HP:0000668), FAILURE TO THRIVE(HP:0001508), CARIOUS TEETH(HP:0000670), ONSET IN UTERO(HP:0003660), ONSET IN CHILDHOOD(HP:0003578), HETEROGENEOUS(HP:0001425), SKIN CLEAVAGE IN THE LAMINA LUCIDA(HP:0003341), NAIL DYSPLASIA(HP:0002164), PLANTAR HYPERKERATOSIS(HP:0007556), MILIA(HP:0001056), FRAGILE NAILS(HP:0001808), ATROPHIC SCARS(HP:0001075), MILD FINGER CONTRACTURES(HP:0006218)]
3918	LAMC2	[ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), PYLORIC STENOSIS(HP:0002021), PALMAR HYPERHIDROSIS(HP:0006089), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CONGENITAL LOCALIZED ABSENCE OF SKIN(HP:0007383), DEATH IN INFANCY(HP:0001522), HYPODONTIA(HP:0000668), FAILURE TO THRIVE(HP:0001508), CARIOUS TEETH(HP:0000670), ONSET IN UTERO(HP:0003660), ONSET IN CHILDHOOD(HP:0003578), HETEROGENEOUS(HP:0001425), SKIN CLEAVAGE IN THE LAMINA LUCIDA(HP:0003341), NAIL DYSPLASIA(HP:0002164), PLANTAR HYPERKERATOSIS(HP:0007556), MILIA(HP:0001056), FRAGILE NAILS(HP:0001808), ATROPHIC SCARS(HP:0001075), MILD FINGER CONTRACTURES(HP:0006218)]
3920	LAMP2	[HYPOKINESIA(HP:0002375), MITOCHONDRIAL INHERITANCE(HP:0001427), DIFFUSE MUSCLE ATROPHY(HP:0009074), CARDIOMEGALY(HP:0001640), PES CAVUS(HP:0001761), SUBNORMAL VISUAL ACUITY(HP:0007860), MYOCARDIAL NECROSIS(HP:0001700), COGNITIVE IMPAIRMENT, MILD(HP:0002129), MUSCLE CRAMPS WITH EXERCISE(HP:0003710), DILATED CARDIOMYOPATHY(HP:0001644), DEVELOPMENTAL RETARDATION(HP:0001263), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), PROXIMAL MUSCLE WEAKNESS(HP:0003701), MYOCARDIAL FIBROSIS(HP:0001685), WOLF-PARKINSON-WHITE SYNDROME(HP:0001716), INCREASED SERUM CREATINE KINASE(HP:0002147), PHENOTYPIC VARIABILITY(HP:0003812), X-LINKED DOMINANT INHERITANCE(HP:0001423), EXERCISE INTOLERANCE(HP:0003546)]
3930	LBR	[PLEURAL EFFUSION(HP:0002202), CARDIOMEGALY(HP:0001640), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL DEATH(HP:0003811), MILD PORTAL FIBROSIS(HP:0006580), HYPERKYPHOSIS(HP:0003314), LIVER CALCIFICATIONS(HP:0006559), VENTRICULAR SEPTAL DEFECT(HP:0001629), SCLEROTIC SKULL BASE(HP:0002694), STERNAL PUNCTATE CALCIFICATIONS(HP:0006637), ANTERIOR AND POSTERIOR RIB FLARING(HP:0006635), HYPOPLASIA INVOLVING BONES OF THE UPPER LIMBS(HP:0009824), DIAPHYSEAL BOWING OF LONG BONES(HP:0005908), MALPOSITION OF TEETH(HP:0001569), LARYNGEAL CALCIFICATIONS(HP:0008754), TRACHEAL CALCIFICATIONS(HP:0002787), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), UMBILICAL HERNIA(HP:0001537), OMPHALOCELE(HP:0001539), POLYHYDRAMNIOS(HP:0001561), ANTERIOR RIB PUNCTATE CALCIFICATIONS(HP:0006619), BARREL-SHAPED CHEST(HP:0001552), PES CAVUS(HP:0001761), DIAPHYSEAL THICKENING(HP:0005019), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), NONIMMUNE HYDROPS FETALIS(HP:0001790), ISLETS OF LANGERHANS HYPERPLASIA(HP:0004510), ABNORMAL LUNG LOBATION(HP:0002101), MENTAL RETARDATION(HP:0001249), VERTEBRAL CALCIFICATIONS(HP:0008420), VERTEBRAL HYPOPLASIA(HP:0008417), INTESTINAL MALROTATION(HP:0002566), PULMONARY HYPOPLASIA(HP:0002089), ABSENT OR MINIMALLY OSSIFIED VERTEBRAL BODIES(HP:0004599), PLATYSPONDYLY WITH MULTIPLE EXTRA OSSIFICATION CENTERS(HP:0004598), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), BROAD HANDS(HP:0001169), GINGIVAL HYPERPLASIA(HP:0000212), ABNORMALITY OF THE CALCANEUS(HP:0008364), BONE MARROW HYPOPLASIA(HP:0005528), ABNORMALITY OF CHOLESTEROL METABOLISM(HP:0003107), HYPOPLASTIC/SHORT 5TH METACARPAL(HP:0010047), MALAR HYPOPLASIA(HP:0000272), HYPOPLASTIC/SHORT 4TH METACARPAL(HP:0010044), HYPOPLASTIC/SHORT 3RD METACARPAL(HP:0010041), ABNORMALITY OF THE JOINTS(HP:0001367), MICROMELIA(HP:0002983), MILD THROMBOCYTOPENIA(HP:0001906), ABNORMALITY OF THE VERTEBRAL SPINOUS PROCESSES(HP:0008516), MACROCEPHALY(HP:0000256), GIANT PLATELETS(HP:0001902), ULNAR DEVIATION OF THE HAND(HP:0009487), LETHAL SKELETAL DYSPLASIA(HP:0005716), NEUTROPENIA(HP:0001875), HYPERTELORISM(HP:0000316), NARROW CHEST(HP:0000774), SHORT RIBS(HP:0000773), FOOT DORSIFLEXOR WEAKNESS(HP:0009027), ABNORMALITY OF THE SCAPULAE(HP:0000782), GAP BETWEEN FIRST AND SECOND TOES(HP:0001852), HIGH FOREHEAD(HP:0000348), LONG CLAVICLES(HP:0000890), MANDIBULAR HYPOPLASIA(HP:0000347), HYPOPLASTIC VERTEBRAL BODIES(HP:0008479), HYPOPLASIA OF THE MAXILLA(HP:0000327), STIPPLING OF THE EPIPHYSES(HP:0010655), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), BRACHYDACTYLY (FEET)(HP:0001831), 11 PAIRS OF RIBS(HP:0000878), LOW-SET EARS(HP:0000369), METAPHYSEAL CUPPING(HP:0003021), PATCHY INCREASED AND DECREASED BONE MINERAL DENSITY(HP:0010659), METAPHYSEAL FLARING(HP:0003015), MILD SHORT STATURE(HP:0003502), SHORT LIMB DWARFISM(HP:0003505), HYPOPLASTIC FINGERNAILS(HP:0001804), ABSENT TOENAILS(HP:0001802), LOWER LIMB HYPERTONIA(HP:0006895), ABNORMALITY OF THE MINERALISATION AND OSSIFICATION OF BONES OF THE FEET(HP:0010675), RECURRENT OTITIS MEDIA(HP:0000403), SHORT DIAPHYSES(HP:0000941), MULTIPLE PRENATAL FRACTURES(HP:0005855), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), HORIZONTAL SACRUM(HP:0003440), CYSTIC HYGROMA OF THE NECK(HP:0000476), ABNORMALITY OF THE CHROMOSOMES(HP:0002916), DECREASED SKULL OSSIFICATION(HP:0004331), ABNORMAL BONE LABORATORY EXAMINATION(HP:0003330), HEPATOSPLENOMEGALY(HP:0001433), LOWER LIMB HYPERREFLEXIA(HP:0002395), EXTRAMEDULLARY ERYTHROPOIESIS(HP:0004847), ABNORMAL OSSIFICATION INVOLVING THE BONES OF THE PELVIS(HP:0009106), ABNORMAL OSSIFICATION INVOLVING THE FEMORAL HEAD AND NECK(HP:0009107), MEDIAN CLEFT PALATE(HP:0009099), STRABISMUS(HP:0000486), ECZEMA(HP:0000964)]
3931	LCAT	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED SERUM TRIGLYCERIDES(HP:0003082), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), NORMOCHROMIC ANEMIA(HP:0001895), CORNEAL CLOUDING(HP:0000515), INCREASED PLASMA VLDL(HP:0003362), HEMOLYTIC ANEMIA(HP:0001878), DECREASED HDL CHOLESTEROL(HP:0003233)]
3938	LCT	[METABOLIC ACIDOSIS(HP:0001942), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DIARRHEA(HP:0002014), DEHYDRATION(HP:0001944)]
3939	LDHA	[MYOGLOBINURIA(HP:0002913), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MUSCLE CRAMPS(HP:0003394), RHABDOMYOLYSIS(HP:0003201), INCREASED SERUM PYRUVATE(HP:0003542), RENAL FAILURE(HP:0000083), EXERCISE INTOLERANCE(HP:0003546), RIGIDITY(HP:0002063), MUSCLE STIFFNESS(HP:0003552), MYALGIA(HP:0003326), INCREASED SERUM LACTATE(HP:0002151), INCREASED SERUM CREATINE KINASE(HP:0002147), ONSET IN CHILDHOOD(HP:0003578)]
3949	LDLR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), XANTHELASMA(HP:0001114), HYPERCHOLESTEROLEMIA(HP:0003124), CORNEAL ARCUS(HP:0001084), CORONARY ARTERY DISEASE PRESENTING AFTER AGE 30 YEARS IN HETEROZYGOTES, IN CHILDHOOD IN HOMOZYGOTES(HP:0005138)]
3972	LHB	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOGONADISM, MALE(HP:0000026), MALE INFERTILITY(HP:0003251), METABOLISM ABNORMALITY(HP:0001939), MALE PSEUDOHERMAPHRODITISM(HP:0000037), AMBIGUOUS EXTERNAL GENITALIA(HP:0008693)]
3973	LHCGR	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCOMPLETE MALE PSEUDOHERMAPHRODITISM(HP:0008656), SEX-LIMITED AUTOSOMAL DOMINANT(HP:0001470), MALE-LIMITED AUTOSOMAL DOMINANT(HP:0001475), ELEVATED GONADOTROPINS(HP:0000837), PRECOCIOUS PUBERTY IN MALES(HP:0008185), DECREASED TESTICULAR SIZE(HP:0008734), ONSET IN ADOLESCENCE(HP:0003590), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), CRYPTORCHIDISM(HP:0000028)]
3977	LIFR	[FLEXION CONTRACTURES OF THE TOES(HP:0008128), MALAR HYPOPLASIA(HP:0000272), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KNEE CONTRACTURES(HP:0002978), DYSAUTONOMIA(HP:0002459), SHORT TIBIA(HP:0002993), TALIPES(HP:0001883), HOARSE VOICE(HP:0001609), ABSENT PATELLAR REFLEXES(HP:0006844), HYPERNASAL SPEECH(HP:0001614), CORNEAL CLOUDING(HP:0000515), GENU VARUM(HP:0002970), MYOTONIA(HP:0002486), THIN RIBS(HP:0000883), GENU VARUS(HP:0003052), DECREASED PAIN SENSATION(HP:0007328), SQUARE FACE(HP:0000321), HYPERTROPHY OF THE PULMONARY ARTERY WALL(HP:0004939), BLOTCHING PIGMENTATION OF THE SKIN(HP:0007610), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), LOW-SET EARS(HP:0000369), RAREFACTION OF THE METAPHYSES(HP:0004980), BLEPHAROPHIMOSIS(HP:0000581), RADIOLUCENT METAPHYSES HAVE ABNORMAL TRABECULAR PATTERN(HP:0006360), SHORT LONG BONES(HP:0003026), PATHOLOGIC FRACTURE(HP:0002756), TRANSVERSE PALMAR CREASES(HP:0000954), FLARED IRREGULAR METAPHYSES(HP:0000945), CONGENITAL BOWING OF THE LONG BONES(HP:0006451), OSTEOPOROSIS(HP:0000939), FEEDING DIFFICULTIES(HP:0002022), THICKENED CORTEX OF LONG BONES(HP:0000935), MUSCULAR HYPOTONIA(HP:0001252), NASAL HYPOPLASIA(HP:0003196), FRONTAL BOSSING(HP:0002007), CAMPTODACTYLY WITH ULNAR DEVIATION(HP:0005047), APNEA(HP:0002104), DYSPHAGIA(HP:0002015), ABNORMALITY OF THE TEETH(HP:0000164), PULMONARY HYPOPLASIA(HP:0002089), PULMONARY HYPERTENSION(HP:0002092), RESPIRATORY INSUFFICIENCY(HP:0002093), PURSED LIPS(HP:0000205), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), SHORT, SLENDER LONG BONES(HP:0005064), FEVER, EPISODIC(HP:0001954), ADDUCTED THUMBS(HP:0001181), MICROGNATHIA(HP:0000210), ABNORMALITY OF THE PELVIS(HP:0002644), SMOOTH TONGUE(HP:0010298), SCOLIOSIS(HP:0002650), THIN SKIN(HP:0000963), ULNAR DEVIATION OF FINGERS(HP:0009465)]
3988	LIPA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ESOPHAGEAL VARICES(HP:0002040), VACUOLATED BLOOD LYMPHOCYTES(HP:0008147), XANTHELASMA(HP:0001114), DEATH IN INFANCY(HP:0001522), POOR WEIGHT GAIN(HP:0001535), DIARRHEA(HP:0002014), HEPATIC FIBROSIS(HP:0001395), VOMITING(HP:0002013), STEATORRHEA(HP:0002570), PULMONARY HYPERTENSION(HP:0002092), HEPATOSPLENOMEGALY(HP:0001433), LARGE VACUOLATED FOAM CELLS ('NP CELLS') ON BONE MARROW BIOPSY(HP:0001979), ADRENAL CALCIFICATION(HP:0010512), PROTUBERANT ABDOMEN(HP:0001538), HYPERCHOLESTEROLEMIA(HP:0003124)]
3990	LIPC	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ERUPTIVE XANTHOMAS(HP:0001013), ANGINA PECTORIS(HP:0001681)]
3998	LMAN1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACTOR V DEFICIENCY(HP:0003225), BLEEDING DIATHESIS(HP:0001892), FACTOR VIII DEFICIENCY(HP:0003125)]
4000	LMNA	[KYPHOSCOLIOSIS(HP:0002751), MALAR HYPOPLASIA(HP:0000272), HYPERTENSION(HP:0000822), ELBOW CONTRACTURES(HP:0002987), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SUDDEN CARDIAC DEATH(HP:0001645), CONGESTIVE HEART FAILURE(HP:0001635), INSULIN-RESISTANT DIABETES MELLITUS(HP:0000831), NORMAL OR INCREASED FACIAL ADIPOSE TISSUE(HP:0000287), MYOCARDIAL INFARCTION(HP:0001658), DECREASED CERVICAL SPINE FLEXION DUE TO CONTRACTURES OF POSTERIOR CERVICAL MUSCLES(HP:0004631), VARIABLE SEVERITY(HP:0003814), BRADYCARDIA(HP:0001662), DIFFICULTY CLIMBING STAIRS(HP:0003551), DELAYED CLOSURE OF FONTANELLES(HP:0000270), LIMB-GIRDLE MUSCULAR DYSTROPHY(HP:0006785), SHOULDER GIRDLE MUSCLE WEAKNESS(HP:0003547), ROUND, FULL FACE(HP:0000304), MYALGIA(HP:0003326), HEPATIC STEATOSIS(HP:0001397), GENERALIZED MUSCLE WEAKNESS(HP:0003324), QUADRICEPS MUSCLE ATROPHY(HP:0009050), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), MUSCULAR DYSTROPHY(HP:0003560), ACROOSTEOLYSIS OF DISTAL PHALANGES (FEET)(HP:0001870), RESTRICTED NECK MOVEMENT DUE TO CONTRACTURES(HP:0005997), FULL CHEEKS(HP:0000293), JOINT STIFFNESS(HP:0001387), GENERALIZED OSTEOPOROSIS WITH PATHOLOGIC FRACTURES(HP:0005744), PROMINENT EYES(HP:0000536), SPINAL RIGIDITY(HP:0003306), ONSET IN CHILDHOOD(HP:0003578), CALCINOSIS(HP:0003761), OSTEOLYTIC DEFECTS OF THE DISTAL PHALANGES OF THE HAND(HP:0009839), LABIAL PSEUDOHYPERTROPHY(HP:0008739), MANDIBULAR HYPOPLASIA(HP:0000347), PROXIMAL MUSCLE INVOLVEMENT MAY OCCUR(HP:0003475), ALOPECIA(HP:0001596), BIRD-LIKE FACIES(HP:0000320), PREMATURE CORONARY ARTERY DISEASE(HP:0005181), INCREASED INTRAABDOMINAL FAT(HP:0008993), AXONAL NEUROPATHY(HP:0003477), MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211), LOSS OF SUBCUTANEOUS TRUNCAL ADIPOSE TISSUE(HP:0009002), HEPATOMEGALY(HP:0002240), UPPER LIMB INVOLVEMENT MAY OCCUR LATER(HP:0003484), AREFLEXIA(HP:0001284), MOTTLED PIGMENTATION(HP:0001070), QUADRICEPS MUSCLE WEAKNESS(HP:0003731), INCREASED INTRAMUSCULAR FAT(HP:0008985), DECREASED HDL CHOLESTEROL(HP:0003233), GLUCOSE INTOLERANCE(HP:0000833), MUSCLE HYPERTROPHY(HP:0003712), ATRIOVENTRICULAR CONDUCTION DISTURBANCES(HP:0005150), PRECOCIOUS ATHEROSCLEROSIS(HP:0004416), HYPERINSULINEMIA(HP:0000842), ACANTHOSIS NIGRICANS(HP:0000956), ATRIAL FIBRILLATION OR FLUTTER(HP:0004749), HYPOPLASTIC TEETH(HP:0000685), PES CAVUS(HP:0001761), BLONDE, SPARSE SCALP HAIR(HP:0004542), WEAKNESS(HP:0002309), ACHILLES TENDON CONTRACTURES(HP:0001771), DENTAL OVERCROWDING(HP:0000678), PROXIMAL MUSCLE WEAKNESS(HP:0003701), SCAPULAR WINGING(HP:0003691), LOSS OF TEETH(HP:0000701), HIGH-ARCHED PALATE(HP:0000156), HIP GIRDLE MUSCLE WEAKNESS (USUALLY PRESENTING SYMPTOM)(HP:0003692), DISTAL AMYOTROPHY(HP:0003693), DISTAL LOWER LIMB MUSCLE WEAKNESS AND ATROPHY(HP:0008944), POLYCYSTIC OVARIES(HP:0000147), MILD JOINT CONTRACTURES(HP:0005053), NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437), SLOW PROGRESSION(HP:0003677), PANCREATITIS, ACUTE(HP:0001735), ONSET BEFORE AGE 2 YEARS(HP:0003667), DIFFICULTY WALKING(HP:0002355), GROWTH RETARDATION(HP:0001510), PROGRESSIVE ACROOSTEOLYSIS OF THE CLAVICLE(HP:0000905), HYPOREFLEXIA(HP:0001265), PINCHED NOSE(HP:0000418), HYPOPLASTIC CLAVICLES(HP:0000898), DERMAL ATROPHY(HP:0004334), ABNORMALITY OF LYMPHOCYTES(HP:0004332), HETEROGENEOUS(HP:0001425), PERICARDIAL EFFUSION(HP:0001698), NORMAL OR INCREASED ADIPOSE TISSUE AROUND THE NECK(HP:0000468), LOSS OF SUBCUTANEOUS ADIPOSE TISSUE IN LIMBS(HP:0003635), PROMINENT SUPERFICIAL VEINS(HP:0001015), INCREASED SERUM TRIGLYCERIDES(HP:0003082), DECREASED SUBCUTANEOUS FAT(HP:0001002), ABSENCE OF SUBCUTANEOUS FAT(HP:0007485), HIRSUTISM(HP:0001007), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), HYPERGLYCEMIA(HP:0003074), LIPODYSTROPHY(HP:0009125), ADIPOSE TISSUE LOSS(HP:0008887), HYPERLIPIDEMIA(HP:0003077), MICROGNATHIA(HP:0000210), HEART BLOCK(HP:0001668), WORMIAN BONES(HP:0002645), XANTHOMATOSIS(HP:0000991), LOSS OF CONSCIOUSNESS(HP:0007185), DECREASED NUMBER OF MYELINATED FIBERS MAY BE FOUND(HP:0003385), AXONAL ATROPHY ON NERVE BIOPSY(HP:0003384), SMALL 'ONION BULBS' MAY BE PRESENT(HP:0003389), ANGINA PECTORIS(HP:0001681), INCREASED SERUM CREATINE KINASE(HP:0002147), ONSET IN SECOND DECADE(HP:0003588), FOOT DROP(HP:0003377), VENTRICULAR ARRHYTHMIA(HP:0004308), 'STEPPAGE' GAIT(HP:0003376), AXONAL DEGENERATION/REGENERATION ON NERVE BIOPSY(HP:0003378), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
4001	LMNB1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMPOTENCE DUE TO AUTONOMIC DYSFUNCTION(HP:0008652), IMPOTENCE(HP:0000802), HYPERREFLEXIA(HP:0001347), CEREBELLAR ATAXIA(HP:0001253), DEMYELINATION, SYMMETRIC(HP:0007262), PROGRESSIVE DISORDER(HP:0003676), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), ORTHOSTATIC HYPOTENSION DUE TO AUTONOMIC DYSFUNCTION(HP:0004926), SPASTICITY(HP:0001257), ABNORMAL BLADDER REGULATION DUE TO AUTONOMIC DYSFUNCTION(HP:0005341), ONSET IN ADULTHOOD(HP:0003581), ABNORMALITY OF THE URINARY TRACT(HP:0000079), ABNORMALITY OF THE ABDOMEN(HP:0001438), LEUKOENCEPHALOPATHY, DIFFUSE(HP:0006994), DECREASED SWEATING DUE TO AUTONOMIC DYSFUNCTION(HP:0007480), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), DIAPHORESIS(HP:0001064), LEUKODYSTROPHY(HP:0002415), GLIOSIS(HP:0002171), PSEUDOBULBAR PARALYSIS(HP:0007024), HYPERHIDROSIS(HP:0000975)]
4010	LMX1B	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ANTECUBITAL PTERYGIUM(HP:0009760), QUADRICEPS APLASIA(HP:0009788), KERATOCONUS(HP:0000563), TRICEPS APLASIA(HP:0009785), LESTER'S SIGN(HP:0009781), ILIAC HORNS(HP:0009780), BICEPS APLASIA(HP:0009783), DISLOCATION OF PATELLA(HP:0002999), HEMATURIA(HP:0000790), CATARACT(HP:0000518), LIMITED ELBOW EXTENSION(HP:0001377), APLASIA OF THE DISTAL INTERPHALANGEAL CREASES(HP:0001032), GLENOID HYPOPLASIA(HP:0006633), KOILONYCHIA(HP:0001598), RENAL FAILURE(HP:0000083), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), THICKENING OF THE LATERAL BORDER OF THE SCAPULA(HP:0006650), PROTEINURIA(HP:0000093), NEPHROTIC SYNDROME(HP:0000100), GLOMERULONEPHRITIS(HP:0000099), LONGITUDINAL RIDGING(HP:0001801), ANONYCHIA(HP:0001798), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), DISPROPORTIONATE PROMINENCE OF THE FEMORAL MEDIAL CONDYLE(HP:0006437), PATELLAR APLASIA(HP:0006443), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPLASIA OF FIRST RIBS(HP:0006657), CLEFT PALATE(HP:0000175), ELONGATED RADIUS WITH HYPOPLASIA OF RADIAL HEAD(HP:0006424), CLEFT LIP(HP:0000204), DECREASED BODY HEIGHT(HP:0004322), PECTUS EXCAVATUM(HP:0000767), LUMBAR HYPERLORDOSIS(HP:0002938), PTOSIS(HP:0000508), ABSENCE OF PECTORALIS MINOR MUSCLE(HP:0005255), GLAUCOMA(HP:0000501), SPINA BIFIDA(HP:0002414), SCOLIOSIS(HP:0002650), MICROCORNEA(HP:0000482)]
4014	LOR	[AMNIOTIC BANDS(HP:0009775), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ERYTHEMA(HP:0010783), PALMOPLANTAR KERATODERMA(HP:0000982), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), ABNORMALITY OF THE NAILS(HP:0001597), ONSET IN INFANCY(HP:0003576)]
4015	LOX	[RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BLADDER DIVERTICULA(HP:0000015), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), INGUINAL HERNIA(HP:0000023), ABNORMALITY OF THE FACE(HP:0000271), EMPHYSEMA(HP:0002097), SUPRAVALVULAR AORTIC STENOSIS(HP:0004381), JOINT LAXITY(HP:0001388), DIAPHRAGMATIC HERNIA(HP:0000776), LOOSE, REDUNDANT SKIN(HP:0001582), HETEROGENEOUS(HP:0001425), VASCULAR TORTUOSITY(HP:0004948), PECTUS EXCAVATUM(HP:0000767), UMBILICAL HERNIA(HP:0001537), OLIGOHYDRAMNIOS(HP:0001562), ASCENDING AORTIC ANEURYSM(HP:0002631)]
4018	LPA	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ATHEROSCLEROSIS(HP:0002621)]
4023	LPL	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOCARDIAL INFARCTION(HP:0001658), NAUSEA(HP:0002018), XANTHELASMA(HP:0001114), PANCREATITIS(HP:0001733), LIPEMIA RETINALIS(HP:0000660), EPISODIC ABDOMINAL PAIN(HP:0002574), HYPOKINESIA(HP:0002375), HEPATOSPLENOMEGALY(HP:0001433), ERUPTIVE XANTHOMAS(HP:0001013), COMBINED HYPERLIPIDEMIA(HP:0008356), HYPERCHOLESTEROLEMIA(HP:0003124)]
4026	LPP	[ACUTE MYELOID LEUKEMIA(HP:0004808), FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
4036	LRP2	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), WIDE ANTERIOR FONTANEL(HP:0000260), BICORNUATE UTERUS(HP:0000813), HYPOPLASIA OF THE IRIS(HP:0007676), VISUAL LOSS(HP:0000572), SEVERE MYOPIA (> -6.00 DIOPTERS)(HP:0000569), CATARACT(HP:0000518), HYPERTELORISM(HP:0000316), VENTRICULAR SEPTAL DEFECT(HP:0001629), DETACHED RETINA(HP:0000541), PROMINENT EYES(HP:0000536), DIAPHRAGMATIC HERNIA(HP:0000776), IRIS COLOBOMA(HP:0000612), PROTEINURIA(HP:0000093), PARTIAL AGENESIS OF THE CORPUS CALLOSUM(HP:0001338), LOW-SET EARS(HP:0000369), UMBILICAL HERNIA(HP:0001537), OMPHALOCELE(HP:0001539), POSTERIORLY ROTATED EARS(HP:0000358), ABNORMALITY OF THE SKIN(HP:0000951), HEARING LOSS, SENSORINEURAL(HP:0000407), NASAL HYPOPLASIA(HP:0003196), DEVELOPMENTAL RETARDATION(HP:0001263), UNDERORBITAL SKIN CREASES(HP:0007796), FLATTENED NASAL BRIDGE(HP:0000425), NON-ACIDOTIC PROXIMAL TUBULOPATHY(HP:0005574), INTESTINAL MALROTATION(HP:0002566), PULMONARY HYPOPLASIA(HP:0002089), DIAPHRAGMATIC EVENTRATION(HP:0009110), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
4041	LRP5	[KYPHOSCOLIOSIS(HP:0002751), FALCIFORM RETINAL FOLDS(HP:0001493), VITREORETINAL ABNORMALITIES(HP:0007773), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VITREOUS DETACHMENT(HP:0001489), HEADACHE(HP:0002315), HEARING LOSS, SENSORINEURAL(HP:0000407), IRIS ATROPHY(HP:0001089), HEARING LOSS, CONDUCTIVE(HP:0000405), VITREOUS HEMORRHAGE(HP:0007902), OSTEOPOROSIS(HP:0000939), OSTEOPENIA(HP:0000938), THICKENED CORTEX OF LONG BONES(HP:0000935), DENTAL MALOCCLUSION(HP:0000689), MICROPHTHALMOS(HP:0000568), PLATYSPONDYLY(HP:0000926), MUSCULAR HYPOTONIA(HP:0001252), ABSENT ANTERIOR EYE CHAMBER(HP:0008037), METACARPAL DIAPHYSEAL ENDOSTEAL SCLEROSIS(HP:0006174), MENTAL RETARDATION, MILD(HP:0001256), SUBCAPSULAR CATARACTS(HP:0000523), VENTRICULAR SEPTAL DEFECT(HP:0001629), RETINAL EXUDATES(HP:0001147), PHTHISIS BULBI(HP:0000667), JOINT HYPERMOBILITY(HP:0001382), LOW BIRTH WEIGHT(HP:0001518), MANDIBULAR PROGNATHIA(HP:0000303), TRACTIONAL RETINAL DETACHMENT(HP:0007917), PREMATURE BIRTH(HP:0001622), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), HETEROGENEOUS(HP:0001425), BLINDNESS(HP:0000618), DECREASED BODY HEIGHT(HP:0004322), THICKENED CALVARIA(HP:0002684), MILD CLAVICULAR SCLEROSIS(HP:0006648), HORIZONTAL PENDULAR NYSTAGMUS(HP:0007811), OSTEOSCLEROSIS, DIFFUSE SYMMETRICAL(HP:0005789), PERIPHERAL RETINAL AVASCULARIZATION(HP:0007685), MILD VERTEBRAL BODY SCLEROSIS(HP:0004578), METAPHYSEAL WIDENING(HP:0003016), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF THE PELVIS(HP:0002644), ABSENCE OF PERMANENT TEETH(HP:0006349), MICROCEPHALY(HP:0000252), METATARSAL DIAPHYSEAL ENDOSTEAL SCLEROSIS(HP:0008114), BARREL-SHAPED CHEST(HP:0001552), PATHOLOGIC FRACTURE(HP:0002756), FLATTENED FOREHEAD(HP:0004425)]
4054	LTBP3	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), OLIGODONTIA(HP:0000677), DECREASED BODY HEIGHT(HP:0004322), SELECTIVE TOOTH AGENESIS(HP:0001592), OSTEOSCLEROSIS(HP:0010738)]
4056	LTC4S	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
4066	LYL1	[AUTOSOMAL DOMINANT SOMATIC CELL MUTATION(HP:0001444), LYMPHOID LEUKEMIA(HP:0005526)]
4068	SH2D1A	[VARIABLE IMMUNODEFICIENCY(HP:0005362), LYMPHADENOPATHY(HP:0002716), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), PANCYTOPENIA(HP:0001876), SPLENOMEGALY(HP:0001744), RESPIRATORY ABNORMALITY(HP:0002086), HEPATIC ENCEPHALOPATHY(HP:0002480), FULMINANT HEPATITIS(HP:0004787), ENCEPHALITIS(HP:0002383), X-LINKED RECESSIVE INHERITANCE(HP:0001419), LYMPHOMA(HP:0002665), HEPATOMEGALY(HP:0002240), MENINGITIS(HP:0001287), INCREASED IGM LEVEL(HP:0003496), COMBINED IMMUNODEFICIENCY(HP:0005387), DECREASED IGG LEVEL(HP:0004315)]
4069	LYZ	[GENERALIZED AMYLOID DEPOSITION(HP:0003216), HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROTEINURIA(HP:0000093), HEPATOMEGALY(HP:0002240), HEMATURIA(HP:0000790), NEPHROTIC SYNDROME(HP:0000100), SKIN RASH(HP:0000988), CHOLESTASIS(HP:0001396), NEUROLOGICAL ABNORMALITY(HP:0000707), SPLENOMEGALY(HP:0001744), EDEMA(HP:0000969), NEPHROPATHY(HP:0000112)]
4070	TACSTD2	[CORNEAL DYSTROPHY(HP:0001131), PHOTOPHOBIA(HP:0000613), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BLURRED VISION(HP:0000622), ONSET IN CHILDHOOD(HP:0003578)]
4072	EPCAM	[ARTHRITIS(HP:0001369), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTRACTABLE DIARRHEA(HP:0002041), FAILURE TO THRIVE(HP:0001508), LOW BIRTH WEIGHT(HP:0001518)]
4089	SMAD4	[RECTAL PROLAPSE(HP:0002035), CLUBBING(HP:0001217), RECTAL BLEEDING(HP:0002609), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TELANGIECTASIA(HP:0001009), SUBARACHNOID HEMORRHAGE(HP:0002138), ANEMIA(HP:0001903), COLON CANCER(HP:0003003), HYPOALBUMINEMIA(HP:0003073), ABDOMINAL PAIN(HP:0002027), INTUSSUSCEPTION(HP:0002576), DIARRHEA(HP:0002014), CEREBRAL ARTERIOVENOUS MALFORMATION(HP:0002408), FAILURE TO THRIVE(HP:0001508), HYPOKALEMIA(HP:0002900), PULMONARY ARTERIOVENOUS MALFORMATION(HP:0006548), JUVENILE GASTROINTESTINAL POLYPOSIS(HP:0004784)]
4093	SMAD9	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TELANGIECTASIA(HP:0001009), RIGHT VENTRICULAR FAILURE(HP:0001708), THROMBOSIS(HP:0001977), ELEVATED RIGHT ATRIAL PRESSURE(HP:0005168), PULMONARY ARTERY VASOCONSTRICTION(HP:0005308), INCREASED PULMONARY VASCULAR RESISTANCE(HP:0005317), ARTERIES SHOW INTIMAL FIBROSIS(HP:0005312), METABOLISM ABNORMALITY(HP:0001939), RIGHT VENTRICULAR HYPERTROPHY(HP:0001667), ARTERIES SHOW MEDIAL HYPERTROPHY(HP:0004964), DYSPNEA(HP:0002094), PULMONARY HYPERTENSION(HP:0002092)]
4125	MAN2B1	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), BOWING OF THE LEGS(HP:0002979), MACROCEPHALY(HP:0000256), INGUINAL HERNIA(HP:0000023), THICK EYEBROWS(HP:0000574), HYPERREFLEXIA(HP:0001347), RECURRENT BACTERIAL INFECTIONS(HP:0002718), OCCIPITAL PLAGIOCEPHALY(HP:0005469), SPONDYLOLISTHESIS(HP:0003302), GENU VARUM(HP:0002970), PECTUS CARINATUM(HP:0000768), LOW FRONTAL HAIRLINE(HP:0000294), MANDIBULAR PROGNATHIA(HP:0000303), BROAD RIBS(HP:0000885), GENU VARUS(HP:0003052), BROAD FOREHEAD(HP:0000337), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), BABINSKI SIGN(HP:0003487), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), CORTICOSPINAL TRACT DISEASE IN LOWER LIMBS(HP:0007163), WIDELY SPACED TEETH(HP:0000687), GAIT ATAXIA(HP:0002066), IMPAIRED SMOOTH PURSUIT(HP:0007772), THORACOLUMBAR KYPHOSIS(HP:0005619), LIMB ATAXIA(HP:0002070), LARGE EARS(HP:0000400), HEARING LOSS, SENSORINEURAL(HP:0000407), DYSOSTOSIS MULTIPLEX(HP:0000943), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SEVERE GROWTH RETARDATION(HP:0001521), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), SPASTICITY(HP:0001257), SPLENOMEGALY(HP:0001744), RETINAL DEGENERATION, PROGRESSIVE(HP:0007790), SPINOCEREBELLAR TRACT DISEASE IN LOWER LIMBS(HP:0007232), CEREBELLAR ATROPHY(HP:0001272), GINGIVAL HYPERTROPHY(HP:0000195), THICKENED CALVARIA(HP:0002684), FLAT NOSE(HP:0000457), HYPERTRICHOSIS(HP:0000998), INCREASED VERTEBRAL HEIGHT(HP:0004570), REDUCED IMMUNOGLOBULIN LEVELS(HP:0004313), VACUOLATED LYMPHOCYTES(HP:0001922)]
4126	MANBA	[NEUROPATHY(HP:0003407), MINOR FACIAL DYSMORPHISM(HP:0004675), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), ANGIOKERATOMA(HP:0001014), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), HYPERACTIVITY(HP:0000752), DEMYELINATING PERIPHERAL NEUROPATHY, PROGRESSIVE(HP:0007205), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RECURRENT INFECTIONS(HP:0002719), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION(HP:0001249), AGGRESSIVE BEHAVIOR(HP:0000718), TORTUOSITY OF CONJUNCTIVAL VESSELS(HP:0000503), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), INTEROSSEUS MUSCLE ATROPHY(HP:0007181)]
4128	MAOA	[ABNORMAL AGGRESSIVE, IMPULSIVE OR VIOLENT BEHAVIOR(HP:0006919), METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION, MILD(HP:0001256), X-LINKED INHERITANCE(HP:0001417)]
4129	MAOB	[METABOLISM ABNORMALITY(HP:0001939), X-LINKED INHERITANCE(HP:0001417)]
4137	MAPT	[KYPHOSCOLIOSIS(HP:0002751), BRADYKINESIA(HP:0002067), AKINESIA(HP:0002304), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOSMIA(HP:0004409), FRONTOLIMBIC DEMENTIA(HP:0002439), NEUROFIBRILLARY TANGLES(HP:0002185), HIGHLY VARIABLE PHENOTYPE(HP:0003815), LANGUAGE IMPAIRMENT(HP:0002463), LIMB DYSTONIA(HP:0002451), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), RIGIDITY(HP:0002063), INAPPROPRIATE SEXUAL BEHAVIOR(HP:0008768), PRIMITIVE REFLEXES (PALMOMENTAL, SNOUT, GLABELLAR)(HP:0002476), DIPLOPIA(HP:0000651), ONSET BEFORE AGE 2 YEARS(HP:0003667), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), POOR MOBILITY(HP:0002481), MASK-LIKE FACIES(HP:0000298), SOFT VOICE(HP:0001621), EYELID APRAXIA(HP:0000658), FORGETFULNESS(HP:0000747), LACK OF MOTIVATION(HP:0000745), HETEROGENEOUS(HP:0001425), PERSONALITY CHANGES(HP:0000751), PHOTOPHOBIA(HP:0000613), INAPPROPRIATE LAUGHTER(HP:0000748), GAIT IMBALANCE(HP:0002141), AMYOTROPHIC LATERAL SCLEROSIS(HP:0007354), IRRITABILITY(HP:0000737), BLURRED VISION(HP:0000622), FRONTAL RELEASE SIGNS(HP:0000743), APATHY(HP:0000741), PARKINSONISM(HP:0001300), FALLS(HP:0002527), ISOLATED CASES(HP:0001420), TREMOR(HP:0001337), MUTISM(HP:0002300), ECHOLALIA(HP:0010529), NEURONAL LOSS(HP:0002400), DEPRESSION(HP:0000716), METABOLISM ABNORMALITY(HP:0001939), NEUROPATHOLOGY SHOWS NEURONAL LOSS IN BASAL GANGLIA, BRAINSTEM, AND CEREBELLUM(HP:0002529), GLIOSIS(HP:0002171), GRANULOVACUOLAR DEGENERATION(HP:0002528), AXIAL DYSTONIA(HP:0002530), HYPERORALITY(HP:0000710), EARLY ONSET(HP:0003593), STEREOTYPED, REPETITIVE BEHAVIOUR(HP:0000733), DISINHIBITION(HP:0000734), FRONTOTEMPORAL DEMENTIA(HP:0002145), RETROCOLLIS(HP:0002544), SUPRANUCLEAR GAZE PALSY(HP:0000605), HYPERPHAGIA(HP:0000724), ONSET IN THIRD DECADE(HP:0003585), SHORT STEPPED SHUFFLING GAIT(HP:0007311), FRONTAL LOBE DEMENTIA(HP:0000727)]
4143	MAT1A	[MENTAL RETARDATION(HP:0001249), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DYSTONIA(HP:0001332), HYPERMETHIONINEMIA(HP:0003235), ABNORMALITY OF THE MOUTH(HP:0000153), DEMYELINATION(HP:0003381), HYPERREFLEXIA(HP:0001347)]
4148	MATN3	[DELAYED MATURATION/DELAYED OSSIFICATION OF CARPAL BONES(HP:0001216), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GENU VALGUM(HP:0002857), BOWING OF THE LEGS(HP:0002979), NARROW ILIAC WINGS(HP:0002868), WIDE METAPHYSES WITH LATERAL SPURS(HP:0005054), POSTERIOR RIB CUPPING(HP:0000922), ARTHRALGIA(HP:0002829), SHORT, WIDE FEMORAL NECK(HP:0008781), FLAT ACETABULAR ROOFS(HP:0003180), DYSPLASTIC ILIAC WINGS(HP:0008794), HYPOPLASTIC PUBIC BONES(HP:0003173), LIMITED ELBOW EXTENSION(HP:0001377), HETEROGENEOUS(HP:0001425), COXA VARA(HP:0002812), EPIPHYSEAL DYSPLASIA(HP:0002656), MILD METAPHYSEAL IRREGULARITIES(HP:0005065), SMALL CHEST(HP:0001590), LUMBAR HYPERLORDOSIS(HP:0002938), WADDLING GAIT(HP:0002515), DELAYED TARSAL OSSIFICATION(HP:0008103), SMALL PROXIMAL FEMORAL EPIPHYSES(HP:0003374), SPONDYLOEPIMETAPHYSEAL DYSPLASIA(HP:0002651), ARTHRALGIA (HIP)(HP:0003365), MULTIPLE EPIPHYSEAL DYSPLASIA(HP:0002654), SHORT LIMB DWARFISM(HP:0003505), FLAT OVAL-SHAPED VERTEBRAL BODIES(HP:0004559), SMALL, IRREGULAR EPIPHYSES(HP:0003039), SHORT LONG BONES(HP:0003026), OSTEOARTHRITIS(HP:0002758)]
4158	MC2R	[HYPERPIGMENTATION(HP:0000953), ACCELERATED SKELETAL MATURATION(HP:0005616), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELEVATED PLASMA ACTH(HP:0003154), PREDISPOSITION TO SEVERE INFECTIONS(HP:0002957), PLASMA CORTISOL LOW(HP:0008163), INCREASED BODY HEIGHT(HP:0000098), SEIZURES(HP:0001250), COMA(HP:0001259), FAILURE TO THRIVE(HP:0001508), RECURRENT HYPOGLYCEMIC EPISODES(HP:0001988)]
4160	MC4R	[METABOLISM ABNORMALITY(HP:0001939), OBESITY(HP:0001513)]
4166	CHST6	[METABOLISM ABNORMALITY(HP:0001939), CORNEAL DYSTROPHY(HP:0001131), PHOTOPHOBIA(HP:0000613), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MINUTE, GRAY, PUNCTATE CORNEAL OPACITIES(HP:0008004), RECURRENT CORNEAL EROSIONS(HP:0000495), ONSET IN FIRST DECADE(HP:0003582)]
4168	MCF2	[METABOLISM ABNORMALITY(HP:0001939), X-LINKED INHERITANCE(HP:0001417), NEOPLASIA(HP:0002664)]
4170	MCL1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYELOID CELL LEUKEMIA 1(HP:0005519)]
4175	MCM6	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LACTOSE INTOLERANCE(HP:0004789), DIARRHEA(HP:0002014)]
4204	MECP2	[MALAR HYPOPLASIA(HP:0000272), POOR EYE CONTACT(HP:0000817), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MICROCEPHALY, POSTNATAL(HP:0005484), MENTAL RETARDATION, PROFOUND(HP:0002187), MACROCEPHALY(HP:0000256), LACK OF LANGUAGE DEVELOPMENT(HP:0006798), HIGHLY VARIABLE PHENOTYPE(HP:0003815), SPASTICITY, PROGRESSIVE(HP:0002191), INTERMITTENT HYPERVENTILATION(HP:0004879), HYPERREFLEXIA(HP:0001347), CRYPTORCHIDISM(HP:0000028), OCCIPITAL PLAGIOCEPHALY(HP:0005469), PROLONGED QTC INTERVAL(HP:0005184), MACROORCHIDISM(HP:0000053), ABSENT SPEECH(HP:0001617), FACIAL HYPOTONIA(HP:0000297), MILD CORTICAL ATROPHY ON CT OR MRI(HP:0006823), ONSET AT BIRTH(HP:0003577), BLOND HAIR(HP:0002214), MANDIBULAR PROGNATHIA(HP:0000303), KYPHOSIS(HP:0002808), BRUXISM(HP:0003763), ENCEPHALOPATHY(HP:0001298), CENTRAL HYPOVENTILATION(HP:0007110), MICROBRACHYCEPHALY(HP:0002258), PARKINSONISM(HP:0001300), HYPOPLASIA OF THE MAXILLA(HP:0000327), AMYOTROPHY(HP:0003202), BLUE IRIDES(HP:0000635), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), TREMOR(HP:0001337), MYOCLONUS(HP:0001336), LOW-SET EARS(HP:0000369), T-WAVE ABNORMALITIES(HP:0005135), RESPIRATORY ARREST(HP:0005943), DYSTONIA(HP:0001332), WIDELY SPACED TEETH(HP:0000687), MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), SPASTIC GAIT(HP:0002064), DROOLING(HP:0002307), PES CAVUS(HP:0001761), GAIT ATAXIA(HP:0002066), SMALL FEET(HP:0001764), CHOREA(HP:0002072), LARGE EARS(HP:0000400), CLUMSINESS(HP:0002312), TRUNCAL ATAXIA(HP:0002078), CONSTIPATION(HP:0002019), HIGH-ARCHED PALATE(HP:0000156), GASTROESOPHAGEAL REFLUX(HP:0002020), MACROGLOSSIA(HP:0000158), FEEDING DIFFICULTIES(HP:0002022), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), MOTOR DETERIORATION(HP:0002333), RIGIDITY(HP:0002063), SLOW PROGRESSION(HP:0003677), SEIZURES(HP:0001250), PROGRESSIVE DISORDER(HP:0003676), APNEA(HP:0002104), MICROSTOMIA(HP:0000160), DYSPHAGIA(HP:0002015), MENTAL RETARDATION, MILD(HP:0001256), EEG ABNORMALITIES(HP:0002353), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), CHOREOATHETOSIS(HP:0001266), PROGRESSIVE GAIT ATAXIA(HP:0007240), HYPERTONIA(HP:0001276), SHUFFLING GAIT(HP:0002362), OBESITY(HP:0001513), MACROSTOMIA(HP:0000181), SLEEP-WAKE CYCLE DISTURBANCE(HP:0006979), PAROXYSMAL BURSTS OF LAUGHTER(HP:0000749), DELAYED MOTOR MILESTONES(HP:0002130), SHORT NECK(HP:0000470), CACHEXIA(HP:0004326), ANXIETY(HP:0000739), HYPOPIGMENTATION OF THE SKIN(HP:0001010), DECREASED BODY HEIGHT(HP:0004322), BROAD-BASED GAIT(HP:0002136), DEVELOPMENTAL REGRESSION(HP:0002376), SPEECH DELAY(HP:0002117), X-LINKED RECESSIVE INHERITANCE(HP:0001419), GAIT APRAXIA(HP:0010521), POLYMICROGYRIA(HP:0002126), HYPERACTIVITY(HP:0000752), X-LINKED DOMINANT INHERITANCE(HP:0001423), MICROGNATHIA(HP:0000210), ISOLATED CASES(HP:0001420), METABOLISM ABNORMALITY(HP:0001939), DEPRESSION(HP:0000716), SCOLIOSIS(HP:0002650), PSYCHOSIS(HP:0000709), MICROCEPHALY, PROGRESSIVE(HP:0000253), EARLY ONSET(HP:0003593), DEEP SET EYES(HP:0000490), STRABISMUS(HP:0000486), DECELERATION OF HEAD GROWTH(HP:0000241)]
4210	MEFV	[RENAL AMYLOIDOSIS(HP:0001917), ARTHRITIS(HP:0001369), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABDOMINAL PAIN(HP:0002027), PLEURITIS(HP:0002102), ELEVATED ERYTHROCYTE SEDIMENTATION RATE(HP:0003565), ARTHRALGIA(HP:0002829), PERITONITIS(HP:0002586), SPLENOMEGALY(HP:0001744), ONSET IN CHILDHOOD OR ADOLESCENCE(HP:0003661), POLYARTICULAR ARTHRITIS(HP:0005764), LEUKOCYTOSIS(HP:0001974), PERICARDITIS(HP:0001701), ERYSIPELAS(HP:0001055), RENAL FAILURE(HP:0000083), FEVER, EPISODIC(HP:0001954), PROTEINURIA(HP:0000093), MENINGITIS(HP:0001287), HEPATOMEGALY(HP:0002240), NEPHROTIC SYNDROME(HP:0000100)]
4221	MEN1	[ABNORMALITY OF THE THYROID GLAND(HP:0000820), PANCREATIC ISLET CELL ADENOMA(HP:0008261), ADRENOCORTICAL ADENOMA(HP:0008256), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PRIMARY HYPERPARATHYROIDISM(HP:0008200), ZOLLINGER-ELLISON SYNDROME(HP:0002044), SUBCUTANEOUS LIPOMAS(HP:0001031), HYPERCALCEMIA(HP:0003072), PEPTIC ULCER(HP:0004398), CUSHING SYNDROME(HP:0000850), HYPOGLYCEMIA(HP:0001943), DIARRHEA(HP:0002014), ADENOMA SEBACEUM(HP:0009720), PARATHYROID ADENOMA(HP:0002897), CONFETTI-LIKE HYPOPIGMENTED MACULES(HP:0007449), PROLACTIN-SECRETING PITUITARY ADENOMA(HP:0006767), ACROMEGALY(HP:0000845)]
4233	MET	[HETEROGENEOUS(HP:0001425), SUBACUTE PROGRESSIVE VIRAL HEPATITIS(HP:0006572), METABOLISM ABNORMALITY(HP:0001939), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEPATOCELLULAR CARCINOMA(HP:0001402), MICRONODULAR CIRRHOSIS(HP:0001413)]
4247	MGAT2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MACROCEPHALY(HP:0000256), VENTRICULAR SEPTAL DEFECT(HP:0001629), GENERALIZED HYPOTONIA(HP:0001290), GRACILE LONG BONES(HP:0003061), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), PES PLANUS(HP:0001763), ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN(HP:0003160), PROXIMALLY PLACED THUMB(HP:0009623), LARGE, DYSPLASTIC EARS(HP:0000401), THORACOLUMBAR KYPHOSCOLIOSIS(HP:0003423), OSTEOPENIA(HP:0000938), SEIZURES(HP:0001250), ABNORMALITY OF THE TEETH(HP:0000164), FAILURE TO THRIVE(HP:0001508), COXA VALGA(HP:0002673), MIDFRONTAL CAPILLARY HEMANGIOMA(HP:0007466), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), ANTITHROMBIN III DEFICIENCY(HP:0001976), GINGIVAL HYPERTROPHY(HP:0000195), PECTUS EXCAVATUM(HP:0000767), THIN LIPS(HP:0000213), STEREOTYPED, REPETITIVE BEHAVIOUR(HP:0000733), DECREASED COAGULATION FACTORS IX, XI, XII(HP:0005514)]
4254	KITLG	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERPIGMENTED SKIN PATCHES(HP:0007492), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), HYPERKERATOSIS(HP:0000962), ONSET AT BIRTH(HP:0003577), FAMILIAL PROGRESSIVE HYPERPIGMENTATION(HP:0007505)]
4256	MGP	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LONG FACE(HP:0000276), HYPOPLASTIC/SMALL THUMB(HP:0009778), NASAL SPEECH(HP:0001611), MUSCLE STIFFNESS(HP:0003552), PROGRESSIVE CARTILAGINOUS OSSIFICATION OF PINNAE(HP:0008549), VENTRICULAR SEPTAL DEFECT(HP:0001629), HYPOPLASTIC/SMALL HALLUX(HP:0010109), PERIPHERAL PULMONARY STENOSIS(HP:0004957), CARTILAGINOUS OSSIFICATION OF LARYNX(HP:0008747), STIPPLING OF THE EPIPHYSES(HP:0010655), RECURRENT BRONCHITIS(HP:0002785), CEREBRAL CALCIFICATION(HP:0002514), LARGE, PROMINENT EARS(HP:0000382), PULMONARY ARTERY HYPOPLASIA(HP:0004971), MIXED HEARING LOSS(HP:0000410), RECURRENT OTITIS MEDIA(HP:0000403), CARTILAGINOUS OSSIFICATION OF RIB(HP:0006662), DEEP PHILTRUM(HP:0002002), SEIZURES(HP:0001250), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), PREMATURE FUSION OF PHALANGEAL EPIPHYSES(HP:0006140), MENTAL RETARDATION, MILD(HP:0001256), FLATTENED NASAL BRIDGE(HP:0000425), GROWTH ABNORMALITY(HP:0001507), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), INCREASED RISK OF SPONTANEOUS ABORTION(HP:0005268), SINUSITIS(HP:0000246), CARTILAGINOUS OSSIFICATION OF NOSE(HP:0005275)]
4261	CIITA	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), VIRAL HEPATITIS(HP:0006562), CHRONIC LYMPHOCYTIC MENINGITIS(HP:0007041), PROTRACTED DIARRHEA(HP:0004385), CHRONIC MUCOCUTANEOUS CANDIDIASIS(HP:0002728), MALABSORPTION(HP:0002024), PANHYPOGAMMAGLOBULINEMIA(HP:0003139), SEVERE COLITIS(HP:0002583), NEUTROPENIA(HP:0001875), FAILURE TO THRIVE(HP:0001508), ENCEPHALITIS(HP:0002383), LACK OF DELAYED SKIN HYPERSENSITIVITY REACTION(HP:0005427), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), AGAMMAGLOBULINEMIA(HP:0004432), RECURRENT LOWER RESPIRATORY TRACT INFECTIONS(HP:0002783), FREQUENT BACTERIAL, VIRAL, PROTOZOAN, AND FUNGAL INFECTIONS(HP:0005386), BILIARY TRACT ABNORMALITY(HP:0001080)]
4281	MID1	[HIGH-ARCHED PALATE(HP:0000156), GASTROESOPHAGEAL REFLUX(HP:0002020), ANAL ATRESIA(HP:0002023), CRYPTORCHIDISM(HP:0000028), CLEFT PALATE(HP:0000175), FRONTAL BOSSING(HP:0002007), DEVELOPMENTAL RETARDATION(HP:0001263), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), HYPERTELORISM(HP:0000316), HYPOSPADIAS(HP:0000047), DYSPHAGIA(HP:0002015), FLAT PHILTRUM(HP:0000319), CARDIAC MALFORMATION(HP:0002564), ASPIRATION(HP:0002835), BROAD NASAL BRIDGE(HP:0000431), AGENESIS OF CORPUS CALLOSUM(HP:0001274), CLEFT LIP(HP:0000204), HETEROGENEOUS(HP:0001425), WIDOW'S PEAK(HP:0000349), NARES, ANTEVERTED(HP:0000463), THIN UPPER LIP(HP:0000219), X-LINKED RECESSIVE INHERITANCE(HP:0001419), TELECANTHUS(HP:0000506), POSTERIOR PHARYNGEAL CLEFT(HP:0006783)]
4286	MITF	[HETEROCHROMIA IRIDIS(HP:0001100), WHITE EYEBROWS AND EYELASHES(HP:0004536), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEARING LOSS, SENSORINEURAL, BILATERAL PROFOUND CONGENITAL(HP:0008540), OPTIC NERVE DYSPLASIA(HP:0001093), DEAFNESS(HP:0000404), HYPOPIGMENTED FUNDI(HP:0001487), MICROPHTHALMOS(HP:0000568), FOVEAL HYPOPLASIA(HP:0007750), PREMATURE GRAYING OF HAIR(HP:0002216), SYNOPHRYS(HP:0000664), BROAD NASAL BRIDGE(HP:0000431), HYPOPLASTIC NASAL ALAE(HP:0000430), WHITE FORELOCK(HP:0002211), HYPERMETROPIA(HP:0000540), VESTIBULAR HYPOFUNCTION(HP:0001756), PHOTOPHOBIA(HP:0000613), ABNORMALITY OF THE ABDOMEN(HP:0001438), BLUE IRIDES(HP:0000635), NYSTAGMUS(HP:0000639), CONGENITAL PARTIAL ALBINISM (LEUCODERMA) ON FACE, TRUNK, OR LIMBS(HP:0001044), FAIR SKIN(HP:0000984), METABOLISM ABNORMALITY(HP:0001939), IMPAIRED VISION(HP:0000505), TELECANTHUS(HP:0000506), CONGENITAL SENSORINEURAL DEAFNESS(HP:0008620), HYPOPLASTIC IRIS STROMA(HP:0007990), STRABISMUS(HP:0000486)]
4287	ATXN3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EXTERNAL OPHTHALMOPLEGIA(HP:0000544), SPHINCTER DISTURBANCE(HP:0000018), PROPTOSIS(HP:0000520), FASCICULATION-LIKE MOVEMENTS(HP:0002468), IMPAIRED HORIZONTAL SMOOTH PURSUIT(HP:0001151), IMPAIRED VIBRATORY SENSE(HP:0002495), FACIAL-LINGUAL FASCICULATIONS(HP:0007089), SPINOCEREBELLAR TRACT DEGENERATION(HP:0002503), SUPRANUCLEAR OPHTHALMOPLEGIA(HP:0000623), PARKINSONISM(HP:0001300), BABINSKI SIGN(HP:0003487), GENETIC ANTICIPATION(HP:0003743), DYSTONIA(HP:0001332), BRADYKINESIA(HP:0002067), EXTRAPYRAMIDAL SIGNS(HP:0002071), LIMB ATAXIA(HP:0002070), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), MUSCLE CRAMPS(HP:0003394), TRUNCAL ATAXIA(HP:0002078), DISTAL AMYOTROPHY(HP:0003693), RIGIDITY(HP:0002063), PROGRESSIVE DISORDER(HP:0003676), DIPLOPIA(HP:0000651), EXOPHTHALMOS(HP:0000645), DYSARTHRIA(HP:0001260), DYSMETRIC SACCADES(HP:0000641), DYSPHAGIA(HP:0002015), GAZE-EVOKED NYSTAGMUS(HP:0000640), SPASTICITY(HP:0001257), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), ENLARGED FOURTH VENTRICLE, MILD(HP:0007223), AUTONOMIC DYSFUNCTION(HP:0002387), CEREBELLAR ATROPHY, MILD(HP:0007203), PTOSIS(HP:0000508), POSTURAL INSTABILITY(HP:0002172), GLIOSIS(HP:0002171), DECREASED OR ABSENT ANKLE REFLEXES(HP:0007032), DEMENTIA(HP:0000726)]
4291	MLF1	[ACUTE MYELOID LEUKEMIA(HP:0004808), FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
4292	MLH1	[CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTED MACULES(HP:0001034), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), MALIGNANT GASTROINTESTINAL TRACT TUMORS(HP:0006749), RHABDOMYOSARCOMA(HP:0002859), COLON DIVERTICULA(HP:0002253), NEUROBLASTOMA(HP:0003006), BREAST CANCER(HP:0003002), COLON CANCER(HP:0003003), LYMPHOMA(HP:0002665), AXILLARY FRECKLING(HP:0000997), BASAL CELL CARCINOMA(HP:0002671), DUODENAL CARCINOMA(HP:0006771), MEDULLOBLASTOMA(HP:0002885), ASTROCYTOMA(HP:0009592), BENIGN GENITOURINARY TRACT TUMORS(HP:0006778), BENIGN GASTROINTESTINAL TRACT TUMORS(HP:0006719), EPENDYMOMA(HP:0002888), MALIGNANT GENITOURINARY TRACT TUMORS(HP:0006758)]
4297	MLL	[ACUTE MYELOID LEUKEMIA(HP:0004808), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ACUTE MONOCYTIC LEUKEMIA(HP:0004845), MYELOID/LYMPHOID LEUKEMIA(HP:0005531), ACUTE LYMPHATIC LEUKEMIA(HP:0006721), ACUTE MYELOMONOCYTIC LEUKEMIA(HP:0004820)]
4298	MLLT1	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
4299	AFF1	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
4300	MLLT3	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
4303	FOXO4	[METABOLISM ABNORMALITY(HP:0001939), X-LINKED INHERITANCE(HP:0001417), NEOPLASIA(HP:0002664)]
4313	MMP2	[KYPHOSCOLIOSIS(HP:0002751), JOINT CONTRACTURES(HP:0001372), DISTAL TAPERING OF METATARSALS(HP:0008133), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), COARSE FACIAL FEATURES(HP:0000280), DIFFUSELY THICKENED SKIN(HP:0007393), HIP CONTRACTURES(HP:0003273), WIDENED METACARPAL SHAFT(HP:0006012), VERTEBRAL COMPRESSION FRACTURES(HP:0002953), PROPTOSIS(HP:0000520), HYPERTELORISM(HP:0000316), C1-C2 SUBLUXATION(HP:0003320), TARSAL OSTEOLYSIS(HP:0001858), ONSET IN EARLY CHILDHOOD(HP:0003580), SCLEROTIC CRANIAL SUTURES(HP:0005441), THIN METATARSAL CORTICES(HP:0008078), ARTHROPATHY(HP:0003040), CAMPTODACTYLY (FEET)(HP:0001836), HYPOPLASIA OF THE MAXILLA(HP:0000327), GAIT DISTURBANCE(HP:0001288), OSTEOLYSIS(HP:0002797), ANKYLOSIS OF FEET SMALL JOINTS(HP:0008090), METAPHYSEAL WIDENING(HP:0003016), ANTINUCLEAR ANTIBODY POSITIVE(HP:0003493), WIDENED METATARSAL SHAFT(HP:0008106), ABNORMALITY OF THE EARS(HP:0000598), PERIPHERAL CORNEAL OPACITIES(HP:0008011), PES PLANUS(HP:0001763), INTERPHALANGEAL JOINT CONTRACTURES(HP:0001220), CARPAL OSTEOLYSIS(HP:0001495), PES CAVUS(HP:0001761), DELAYED DENTITION(HP:0000684), BULBOUS NOSE(HP:0000414), DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476), WRIST CONTRACTURES(HP:0001239), THIN METACARPAL CORTICES(HP:0006086), OSTEOLYSIS INVOLVING METATARSAL BONES(HP:0001473), OSTEOPOROSIS(HP:0000939), OSTEOPENIA(HP:0000938), DISTAL AMYOTROPHY(HP:0003693), SUBCUTANEOUS NODULES(HP:0001482), FRONTAL BOSSING(HP:0002007), NARROW NASAL BRIDGE(HP:0000446), ARTHRALGIA(HP:0002829), METACARPAL OSTEOLYSIS(HP:0001504), PROTRUSIO ACETABULI(HP:0003179), DECREASED BODY HEIGHT(HP:0004322), GINGIVAL HYPERTROPHY(HP:0000195), ECTRODACTYLY (HANDS)(HP:0001171), HIRSUTISM(HP:0001007), ABNORMALITY OF THE THORAX(HP:0000765), INTERPHALANGEAL JOINT EROSIONS(HP:0006252), MICROGNATHIA(HP:0000210), HYPERTRICHOSIS(HP:0000998), CONTRACTURES OF THE ANKLES(HP:0006466), BRACHYCEPHALY(HP:0000248), HYPERPIGMENTED ERYTHEMATOUS LESIONS(HP:0007442), ONSET IN EARLY INFANCY(HP:0003591)]
4322	MMP13	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RADIAL BOWING(HP:0002986), FEMORAL BOWING(HP:0002980), TIBIAL BOWING(HP:0002982), FLARED ILIAC WINGS(HP:0002869), SMALL, FLATTENED EPIPHYSES(HP:0005051), GENU VARUM(HP:0002970), RHIZOMELIC SHORTENING(HP:0002968), GROWTH ABNORMALITY(HP:0001507), LIMITED ELBOW EXTENSION(HP:0001377), COXA VARA(HP:0002812), IRREGULAR SCLEROTIC ENDPLATES(HP:0008476), MILD PLATYSPONDYLY(HP:0002940), WADDLING GAIT(HP:0002515), FLARED, IRREGULAR RIB ENDS(HP:0006603), METAPHYSEAL CUPPING(HP:0003021), PEAR-SHAPED VERTEBRAE(HP:0004566), SPONDYLOEPIMETAPHYSEAL DYSPLASIA(HP:0002651), METAPHYSEAL FLARING(HP:0003015), ULNAR BOWING(HP:0003031), OSTEOARTHRITIS(HP:0002758)]
4330	MN1	[ABNORMALITY OF THE CHROMOSOMES(HP:0002916), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MENINGIOMA(HP:0002858)]
4337	MOCS1	[INCREASED URINARY SULFITE, THIOSULFATE, S-SULFOCYSTEINE, TAURINE, HYPOXANTHINE, AND XANTHINE(HP:0003166), SULFITE OXIDASE DEFICIENCY(HP:0003643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), XANTHINE DEHYDROGENASE DEFICIENCY(HP:0003534), URINARY XANTHINE STONES(HP:0000804), ABNORMAL MUSCLE TONE(HP:0003808), DECREASED URINARY SULFATE AND URATE(HP:0003359), ALDEHYDE OXIDASE DEFICIENCY(HP:0002932), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), SPASTIC TETRAPARESIS(HP:0001285), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), ABSENT URINARY UROTHIONE(HP:0003606), MYOCLONIC SPASMS(HP:0003739), LENS DISLOCATION(HP:0000665), MOLYBDENUM COFACTOR DEFICIENCY(HP:0003570)]
4338	MOCS2	[INCREASED URINARY SULFITE, THIOSULFATE, S-SULFOCYSTEINE, TAURINE, HYPOXANTHINE, AND XANTHINE(HP:0003166), SULFITE OXIDASE DEFICIENCY(HP:0003643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), XANTHINE DEHYDROGENASE DEFICIENCY(HP:0003534), URINARY XANTHINE STONES(HP:0000804), ABNORMAL MUSCLE TONE(HP:0003808), DECREASED URINARY SULFATE AND URATE(HP:0003359), ALDEHYDE OXIDASE DEFICIENCY(HP:0002932), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), SPASTIC TETRAPARESIS(HP:0001285), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), ABSENT URINARY UROTHIONE(HP:0003606), MYOCLONIC SPASMS(HP:0003739), LENS DISLOCATION(HP:0000665), MOLYBDENUM COFACTOR DEFICIENCY(HP:0003570)]
4342	MOS	[ACUTE MYELOID LEUKEMIA(HP:0004808), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
4351	MPI	[ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN (TYPE 1 PATTERN)(HP:0003642), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), ANTITHROMBIN III DEFICIENCY(HP:0001976), THROMBOSIS(HP:0001977), HYPOALBUMINEMIA(HP:0003073), BLEEDING DIATHESIS(HP:0001892), HEPATOMEGALY(HP:0002240), PROTEIN-LOSING ENTEROPATHY(HP:0002243), MUSCULAR HYPOTONIA(HP:0001252), HEPATIC FAILURE(HP:0001399), DIARRHEA(HP:0002014), HEPATIC FIBROSIS(HP:0001395), CIRRHOSIS(HP:0001394), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), FACTOR XI DEFICIENCY(HP:0001929)]
4352	MPL	[HYPERTENSION(HP:0000822), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMAL PLATELET AGGREGATION(HP:0003540), MYELOPROLIFERATIVE DISORDER(HP:0005547), MEGAKARYOCYTOPENIA(HP:0005548), THROMBOCYTOSIS(HP:0001894), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), SEVERE THROMBOCYTOPENIA(HP:0004838), ACROCYANOSIS(HP:0001063), PANCYTOPENIA(HP:0001876), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), AMEGAKARYOCYTIC THROMBOCYTOPENIA(HP:0004859), MILD SPLENOMEGALY(HP:0001745)]
4353	MPO	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
4358	MPV17	[DISCONJUGATE EYE MOVEMENTS(HP:0000549), JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOTHERMIA(HP:0002045), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), LIVER TISSUE SHOWS 80 TO 99% DEPLETION OF MITOCHONDRIAL DNA(HP:0006581), HYPERREFLEXIA(HP:0001347), PERIPORTAL FIBROSIS(HP:0001405), HEPATOCELLULAR NECROSIS(HP:0001404), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), HEPATIC STEATOSIS(HP:0001397), HEPATIC FAILURE(HP:0001399), THROMBOCYTOPENIA(HP:0001873), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), POLYNEUROPATHY(HP:0001271), FAILURE TO THRIVE(HP:0001508), HYPOKINESIA(HP:0002375), MITOCHONDRIAL INHERITANCE(HP:0001427), ENCEPHALOPATHY(HP:0001298), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), PORTAL HYPERTENSION(HP:0001409), MICRONODULAR CIRRHOSIS(HP:0001413), HYPOALBUMINEMIA(HP:0003073), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), ASCITES(HP:0001541), MICROCEPHALY(HP:0000252), COAGULOPATHY(HP:0001925), DECREASED ACTIVITIES OF MITOCHONDRIAL-ENCODED RESPIRATORY CHAIN COMPLEXES(HP:0008972), HYPERBILIRUBINEMIA(HP:0002904), GENERALIZED AMINOACIDURIA(HP:0002909)]
4359	MPZ	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE SEVERITY(HP:0003814), IMMUNOLOGICAL ABNORMALITY(HP:0002715), ONSET IN EARLY CHILDHOOD(HP:0003580), ONSET AT BIRTH(HP:0003577), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), UPPER LIMB POSTURAL TREMOR(HP:0007351), SEGMENTAL DEMYELINATION(HP:0007107), CRANIAL NERVE INVOLVEMENT(HP:0003480), AREFLEXIA(HP:0001284), UPPER LIMB INVOLVEMENT MAY OCCUR LATER(HP:0003484), SEVERELY DECREASED MOTOR NERVE CONDUCTION VELOCITY(HP:0006907), NEONATAL HYPOTONIA(HP:0001319), NEUROPATHY(HP:0003407), HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), PES CAVUS(HP:0001761), GAIT ATAXIA(HP:0002066), HAMMER TOES(HP:0001765), DEAFNESS(HP:0000404), DISTAL AMYOTROPHY(HP:0003693), ARTHROGRYPOSIS MULTIPLEX CONGENITA MAY OCCUR(HP:0005859), SLOW PROGRESSION(HP:0003677), MYELIN OUTFOLDINGS MAY OCCUR IN A SUBSET OF PATIENTS(HP:0003433), ACTION TREMOR(HP:0002345), DYSPHAGIA(HP:0002015), SEGMENTAL DEMYELINATION/REMYELINATION ON NERVE BIOPSY(HP:0003425), MOTOR RETARDATION(HP:0001270), COLD-INDUCED MUSCLE CRAMPS(HP:0003449), HYPOREFLEXIA(HP:0001265), RESPIRATORY INSUFFICIENCY(HP:0002093), ABNORMALITY OF THE EYES(HP:0000478), HETEROGENEOUS(HP:0001425), INCREASED CSF PROTEIN(HP:0002922), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV) (LESS THAN 38 M/S)(HP:0000760), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178), SEVERE HYPOMYELINATION ON NERVE BIOPSY(HP:0007012), FOOT DROP(HP:0003377), ONSET IN FIRST OR SECOND DECADE(HP:0003589), 'STEPPAGE' GAIT(HP:0003376), AXONAL DEGENERATION/REGENERATION ON NERVE BIOPSY(HP:0003378), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383), INSIDIOUS ONSET(HP:0003587), HYPERTROPHIC NERVE CHANGES(HP:0003382)]
4436	MSH2	[CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTED MACULES(HP:0001034), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), MALIGNANT GASTROINTESTINAL TRACT TUMORS(HP:0006749), RHABDOMYOSARCOMA(HP:0002859), COLON DIVERTICULA(HP:0002253), NEUROBLASTOMA(HP:0003006), BREAST CANCER(HP:0003002), COLON CANCER(HP:0003003), LYMPHOMA(HP:0002665), AXILLARY FRECKLING(HP:0000997), BASAL CELL CARCINOMA(HP:0002671), DUODENAL CARCINOMA(HP:0006771), MEDULLOBLASTOMA(HP:0002885), ASTROCYTOMA(HP:0009592), BENIGN GENITOURINARY TRACT TUMORS(HP:0006778), BENIGN GASTROINTESTINAL TRACT TUMORS(HP:0006719), EPENDYMOMA(HP:0002888), MALIGNANT GENITOURINARY TRACT TUMORS(HP:0006758)]
4481	MSR1	[EARLY ONSET(HP:0003593), NEOPLASIA(HP:0002664)]
4487	MSX1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), THIN HAIR(HP:0002237), SMALL NAILS(HP:0001813), ABNORMALITY OF THE SKIN(HP:0000951), SPARSE, FINE HAIR(HP:0002291), HYPODONTIA(HP:0000668), KOILONYCHIA(HP:0001598), NAIL PITTING(HP:0001803), PARTIAL TO TOTAL ABSENCE OF PERMANENT TEETH(HP:0006287), LONGITUDINAL RIDGING(HP:0001801), MICRODONTIA(HP:0000691)]
4488	MSX2	[CLEFT LIP(HP:0000204), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEADACHE(HP:0002315), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), APLASIA CUTIS CONGENITA OF SCALP(HP:0007385), CRANIUM BIFIDUM OCCULTUM(HP:0004423), PARIETAL FORAMINA(HP:0002697), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), SYMMETRICAL, OVAL PARIETAL BONE DEFECTS(HP:0002695), PARIETAL BOSSING(HP:0000242), HYPOPLASTIC CLAVICLES(HP:0000898)]
4524	MTHFR	[INCOORDINATION(HP:0002311), PSYCHIATRIC DISORDERS(HP:0002368), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PARESTHESIA(HP:0003401), STROKE(HP:0001297), GAIT DISTURBANCE(HP:0001288), AGE OF ONSET(HP:0003674), SEIZURES(HP:0001250), HOMOCYSTINEMIA(HP:0002160), DEVELOPMENTAL RETARDATION(HP:0001263), MICROCEPHALY(HP:0000252), MUSCLE WEAKNESS(HP:0001324), HOMOCYSTINURIA(HP:0002156)]
4534	MTM1	[NARROW FACE(HP:0000275), RESPIRATORY FAILURE REQUIRING ASSISTED VENTILATION(HP:0004887), JOINT CONTRACTURES(HP:0001372), ABNORMALITY OF THE FEET(HP:0001760), EXTERNAL OPHTHALMOPLEGIA(HP:0000544), MACROCEPHALY(HP:0000256), HIGH-ARCHED PALATE(HP:0000156), PYLORIC STENOSIS(HP:0002021), CRYPTORCHIDISM(HP:0000028), DECREASED SPONTANEOUS MOVEMENTS(HP:0002603), LONG, HYPEREXTENSIBLE FINGERS(HP:0006010), GENERALIZED MUSCLE WEAKNESS(HP:0003324), SEVERE MUSCULAR HYPOTONIA(HP:0006829), GROWTH ABNORMALITY(HP:0001507), MITOCHONDRIAL INHERITANCE(HP:0001427), NECK MUSCLE WEAKNESS(HP:0000467), FACIAL MUSCLE WEAKNESS(HP:0010628), DECREASED LIVER FUNCTION(HP:0001410), X-LINKED RECESSIVE INHERITANCE(HP:0001419), AREFLEXIA(HP:0001284), HYDROCEPHALUS(HP:0000238), NEONATAL RESPIRATORY DISTRESS(HP:0002643), DIAPHRAGMATIC EVENTRATION(HP:0009110), POLYHYDRAMNIOS(HP:0001561), DECREASED FETAL MOVEMENT(HP:0001558)]
4547	MTTP	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ATAXIA(HP:0001251), ABETALIPOPROTEINEMIA(HP:0008181), RETINOPATHY(HP:0000488), HEMATOLOGICAL ABNORMALITY(HP:0001871), FAT MALABSORPTION(HP:0002630), DEMYELINATION(HP:0003381)]
4548	MTR	[DECREASED METHIONINE SYNTHASE (MTR, 156570) ACTIVITY(HP:0003524), POOR COORDINATION(HP:0002370), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CLUMSINESS(HP:0002312), FEEDING DIFFICULTIES(HP:0002022), METHYLCOBALAMIN, CBL G, DEFICIENCY(HP:0008287), MEGALOBLASTIC ANEMIA(HP:0001889), CEREBRAL ATROPHY(HP:0002059), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), FAILURE TO THRIVE(HP:0001508), DECREASED SERUM METHIONINE(HP:0003658)]
4552	MTRR	[DECREASED METHIONINE SYNTHASE (MTR, 156570) ACTIVITY(HP:0003524), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED METHYLCOBALAMIN (MECBL)(HP:0003223), MEGALOBLASTIC ANEMIA(HP:0001889), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), HOMOCYSTINURIA(HP:0002156), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
4591	TRIM37	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), DECREASED RETINAL PIGMENTATION WITH DISPERSION(HP:0007659), ABSENT OF SMALL FRONTAL SINUS(HP:0005475), DOLICHOCEPHALY(HP:0000268), HYPERTELORISM(HP:0000316), BROAD AND DEPRESSED NASAL BRIDGE(HP:0004666), ABNORMAL OR EXCESS NEVI(HP:0003764), TRIANGULAR FACIES(HP:0000325), HEPATOMEGALY(HP:0002240), PERICARDIAL CONSTRICTION(HP:0005132), DENTAL OVERCROWDING(HP:0000678), HYPOPLASIA OF CHOROID(HP:0007757), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), DYSARTHRIA(HP:0001260), HYPODONTIA(HP:0000668), J-SHAPED SELLA TURCICA(HP:0002680), DECREASED BODY HEIGHT(HP:0004322), VENTRICULOMEGALY(HP:0002119), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), SMALL TONGUE(HP:0000226), MYOCARDIAL FIBROSIS(HP:0001685), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483), WEAK, HIGH-PITCHED VOICE(HP:0008374)]
4593	MUSK	[RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), EMG SHOWS DECREMENTAL RESPONSE OF COMPOUND MUSCLE ACTION POTENTIAL (CMAP) TO REPETITIVE NERVE STIMULATION(HP:0003403), LONG FACE(HP:0000276), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MUSCLE CRAMPS(HP:0003394), HIGH-ARCHED PALATE(HP:0000156), VARIABLE SEVERITY(HP:0003814), FEEDING DIFFICULTIES(HP:0002022), NONPROGRESSIVE DISORDER(HP:0003680), DENTAL MALOCCLUSION(HP:0000689), DECREASED MUSCLE MASS(HP:0003199), MUSCULAR HYPOTONIA(HP:0001252), WEAK CRY(HP:0001612), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), IMMUNOLOGICAL ABNORMALITY(HP:0002715), GENERALIZED MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003428), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), ONSET IN INFANCY(HP:0003576), ONSET IN CHILDHOOD(HP:0003578), MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443), MANDIBULAR PROGNATHIA(HP:0000303), RESPIRATORY INSUFFICIENCY(HP:0002093), FACIAL MUSCLE WEAKNESS(HP:0010628), PTOSIS(HP:0000508), OPHTHALMOPARESIS(HP:0000597), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391), DECREASED FETAL MOVEMENT(HP:0001558), STRABISMUS(HP:0000486), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759)]
4594	MUT	[METABOLIC KETOACIDOSIS(HP:0005979), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL OR INFANTILE METABOLIC KETOACIDOSIS(HP:0005971), CARDIOMYOPATHY(HP:0001638), SEVERE INVOLVEMENT OF GLOBUS PALLIDUS(HP:0007040), DELAYED MYELINATION(HP:0002188), LEUKOPENIA(HP:0001882), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), PANCREATITIS(HP:0001733), DEVELOPMENTAL RETARDATION(HP:0001263), THROMBOCYTOPENIA(HP:0001873), COMA(HP:0001259), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508), METHYLMALONIC ACIDEMIA(HP:0002912), TUBULOINTERSTITIAL NEPHRITIS(HP:0001970), HEPATOMEGALY(HP:0002240), CHRONIC RENAL FAILURE(HP:0000101), DEHYDRATION(HP:0001944), HYPERGLYCINEMIA(HP:0002154)]
4595	MUTYH	[CHRONIC ATROPHIC GASTRITIS(HP:0002582), NEOPLASIA OF THE SKIN(HP:0008069), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
4598	MVK	[ARTHRITIS(HP:0001369), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FLUCTUATING HEPATOMEGALY(HP:0006564), DOLICHOCEPHALY(HP:0000268), LYMPHADENOPATHY(HP:0002716), CATARACT(HP:0000518), ELEVATED ERYTHROCYTE SEDIMENTATION RATE(HP:0003565), THROMBOCYTOPENIA(HP:0001873), TRIANGULAR FACIES(HP:0000325), NYSTAGMUS(HP:0000639), LOW-SET EARS(HP:0000369), PROGRESSIVE ATAXIA(HP:0001329), INCREASED IGA LEVEL(HP:0003261), BLUE SCLERAE(HP:0000592), POSTERIORLY ROTATED EARS(HP:0000358), HEADACHE(HP:0002315), VERTIGO(HP:0002321), ABDOMINAL PAIN(HP:0002027), CEREBRAL ATROPHY(HP:0002059), AGENESIS OF CEREBELLAR VERMIS(HP:0002335), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), MACULES(HP:0200031), DEVELOPMENTAL RETARDATION(HP:0001263), ARTHRALGIA(HP:0002829), DIARRHEA(HP:0002014), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), CEREBELLAR ATROPHY(HP:0001272), LEUKOCYTOSIS(HP:0001974), FLUCTUATING SPLENOMEGALY(HP:0006268), HEPATOSPLENOMEGALY(HP:0001433), DECREASED BODY HEIGHT(HP:0004322), NORMOCYTIC HYPOPLASTIC ANEMIA(HP:0004819), INCREASED CREATINE KINASE(HP:0003078), LARGE FONTANELLES(HP:0000239), SKIN RASH(HP:0000988), MICROCEPHALY(HP:0000252), EDEMA(HP:0000969), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ELEVATED TRANSAMINASES(HP:0002910)]
4602	MYB	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ACUTE LYMPHATIC LEUKEMIA(HP:0006721)]
4607	MYBPC3	[HEART BLOCK(HP:0001668), ATRIAL FIBRILLATION OR FLUTTER(HP:0004749), ABNORMALITY OF LYMPHOCYTES(HP:0004332), PERICARDIAL EFFUSION(HP:0001698), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LOSS OF CONSCIOUSNESS(HP:0007185), CONGESTIVE HEART FAILURE(HP:0001635), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), VENTRICULAR ARRHYTHMIA(HP:0004308)]
4609	MYC	[LYMPHOMA(HP:0002665)]
4613	MYCN	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EPICANTHUS(HP:0000286), PROMINENT OCCIPUT(HP:0000269), VOCAL CORD PARALYSIS(HP:0001605), FACIAL ASYMMETRY(HP:0000324), TRIANGULAR FACIES(HP:0000325), DUODENAL ATRESIA(HP:0002247), HYPOPLASIA OF THE TOES(HP:0004701), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), UPSLANTING PALPEBRAL FISSURES(HP:0000582), LEARNING DISABILITY(HP:0001328), POSTERIORLY ROTATED EARS(HP:0000358), POLYHYDRAMNIOS(HP:0001561), HEARING LOSS(HP:0000365), DECREASED FETAL MOVEMENT(HP:0001558), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009568), ESOPHAGEAL ATRESIA(HP:0002032), TOE SYNDACTYLY(HP:0001770), HIGH-ARCHED PALATE(HP:0000156), ANNULAR PANCREAS(HP:0001734), FLAT NASAL TIP(HP:0000437), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0009161), ASPLENIA(HP:0001746), PROMINENT LIPS(HP:0000184), ACCESSORY SPLEEN(HP:0001747), POLYSPLENIA(HP:0001748), BROAD NASAL BRIDGE(HP:0000431), TRACHEOESOPHAGEAL FISTULA(HP:0002575), NARES, ANTEVERTED(HP:0000463), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), MICROGNATHIA(HP:0000210), SMALL ANTERIOR FONTANELLE(HP:0000237), MICROCEPHALY(HP:0000252)]
4618	MYF6	[CONTRACTURES(HP:0001371), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EXTERNAL OPHTHALMOPLEGIA(HP:0000544), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACIAL MUSCLE WEAKNESS(HP:0010628), PROXIMAL MUSCLE WEAKNESS(HP:0003701), DISTAL MUSCLE WEAKNESS(HP:0002460), X-LINKED INHERITANCE(HP:0001417), CENTRALIZED NUCLEI(HP:0003687), AREFLEXIA(HP:0001284), PTOSIS(HP:0000508), MYOPATHY(HP:0003198), SLOW PROGRESSION(HP:0003677), METABOLISM ABNORMALITY(HP:0001939), MOTOR RETARDATION(HP:0001270), SLEEPY FACIAL EXPRESSION(HP:0005335), MUSCLE HYPERTROPHY(HP:0003712), EASY FATIGABILITY(HP:0003388)]
4621	MYH3	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INGUINAL HERNIA(HP:0000023), HIP CONTRACTURES(HP:0003273), CRYPTORCHIDISM(HP:0000028), NASAL SPEECH(HP:0001611), SPINA BIFIDA OCCULTA(HP:0003298), BREECH PRESENTATION(HP:0001623), ARTHROGRYPOSIS MULTIPLEX CONGENITA(HP:0002804), BLEPHAROPHIMOSIS(HP:0000581), ABNORMALITY OF THE EARS(HP:0000598), THICKENED SKIN(HP:0001072), TALIPES EQUINOVARUS(HP:0001762), ABNORMAL BRAINSTEM AUDITORY EVOKED POTENTIALS, SUGGESTING DEMYELINATION(HP:0006923), HIGH-ARCHED PALATE(HP:0000156), NASAL HYPOPLASIA(HP:0003196), SEIZURES(HP:0001250), MICROSTOMIA(HP:0000160), MENTAL DEFICIENCY(HP:0001267), CEREBELLAR ATROPHY(HP:0001272), PURSED LIPS(HP:0000205), APLASIA/HYPOPLASTIA OF THE INTERPHALANGEAL CREASES(HP:0006031), ADDUCTED THUMBS(HP:0001181), MICROGNATHIA(HP:0000210), WIDENING OF CERVICAL SPINAL CANAL(HP:0004571), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), SMALL TONGUE(HP:0000226), MICROCEPHALY(HP:0000252), MALAR HYPOPLASIA(HP:0000272), JOINT CONTRACTURES(HP:0001372), EPICANTHUS(HP:0000286), KNEE CONTRACTURES(HP:0002978), PROMINENT CHIN WITH CENTRAL DIMPLE(HP:0004648), CHIN DIMPLE(HP:0010751), ARTHROGRYPOSIS(HP:0001390), MASK-LIKE FACIES(HP:0000298), ULNAR DEVIATION OF THE WRIST(HP:0003049), LONG PHILTRUM(HP:0000343), CALCANEOVALGUS DEFORMITIES(HP:0001848), MANDIBULAR HYPOPLASIA(HP:0000347), 'WHISTLING' APPEARANCE(HP:0000346), SHOULDER CONTRACTURES(HP:0003044), METATARSUS VARUS(HP:0001840), VERTICAL TALUS(HP:0001838), TRIANGULAR FACIES(HP:0000325), FULL FOREHEAD(HP:0000333), MUSCLE WEAKNESS(HP:0001324), SEVERE CAMPTODACTYLY(HP:0006195), CONTRACTURES OF THE TOES(HP:0200027), DISLOCATED HIPS(HP:0002827), FAILURE TO THRIVE(HP:0001508), BROAD NASAL ROOT(HP:0000424), BROAD NASAL BRIDGE(HP:0000431), HYPOPLASTIC NASAL ALAE(HP:0000430), LOW BIRTH WEIGHT(HP:0001518), HYPOPLASIA OF THE BRAINSTEM(HP:0002365), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), WEBBED NECK(HP:0000465), PTOSIS(HP:0000508), TELECANTHUS(HP:0000506), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), DEEP SET EYES(HP:0000490), PROMINENT NASOLABIAL FOLDS(HP:0005272), STRABISMUS(HP:0000486)]
4625	MYH7	[CALF MUSCLE PSEUDOHYPERTROPHY(HP:0003707), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES(HP:0003705), SCAPULOPERONEAL WEAKNESS(HP:0003704), SUDDEN DEATH(HP:0001699), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS OF LONG FINGER EXTENSOR MUSCLES(HP:0009077), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), WEAKNESS(HP:0002309), CONGESTIVE HEART FAILURE(HP:0001635), SCAPULOPERONEAL ATROPHY(HP:0003697), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), PROXIMAL MUSCLE WEAKNESS(HP:0003701), SCAPULAR WINGING(HP:0003691), REDUCED VITAL CAPACITY(HP:0002792), MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211), WADDLING GAIT(HP:0002515), CENTRALIZED NUCLEI(HP:0003687), LONG, HYPEREXTENSIBLE FINGERS(HP:0006010), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), SLOW PROGRESSION(HP:0003677), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), RIMMED VACUOLES(HP:0003805), SCAPULOPERONEAL MYOPATHY(HP:0009054), INCREASED SERUM CREATINE KINASE(HP:0002147), SUBAORTIC STENOSIS(HP:0001682), ONSET IN CHILDHOOD OR EARLY ADULTHOOD(HP:0003663), ATROPHY OF ANKLE AND TOE EXTENSOR MUSCLES(HP:0009031), ONSET IN INFANCY OR CHILDHOOD(HP:0003583), LATE ONSET(HP:0003584), GENERALIZED MUSCLE ATROPHY, PROXIMAL AND DISTAL(HP:0003788), GENERALIZED MUSCLE WEAKNESS, PROXIMAL AND DISTAL(HP:0003723)]
4626	MYH8	[TALIPES EQUINOVARUS(HP:0001762), HAMMER TOES(HP:0001765), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MACROCEPHALY(HP:0000256), FEEDING DIFFICULTIES(HP:0002022), DEEP PHILTRUM(HP:0002002), DYSPHAGIA(HP:0002015), DISLOCATED HIPS(HP:0002827), CUTANEOUS SYNDACTYLY OF THE TOES(HP:0010621), DECREASED BODY HEIGHT(HP:0004322), METATARSUS VARUS(HP:0001840), FACIAL ASYMMETRY(HP:0000324), MICROGNATHIA(HP:0000210), TRISMUS(HP:0000211), PTOSIS(HP:0000508)]
4627	MYH9	[HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), MODERATE-TO-SEVERE THROMBOCYTOPENIA(HP:0008268), BUPHTHALMOS(HP:0000557), MENORRHAGIA(HP:0000132), DEAFNESS(HP:0000404), MYOCARDIAL INFARCTION(HP:0001658), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), GIANT PLATELETS(HP:0001902), BLEEDING DIATHESIS(HP:0001892), HEMATURIA(HP:0000790), MILDLY PROLONGED BLEEDING TIME 10-12 MINUTES(HP:0008294), CONGENITAL CATARACT(HP:0000519), GASTROINTESTINAL HEMORRHAGE(HP:0002239), MILD-TO-MODERATE THROMBOCYTOPENIA(HP:0008302), THROMBOCYTOPENIA, MILD-MODERATE(HP:0008175), EPISTAXIS(HP:0000421), HIGH-TONE SENSORINEURAL DEAFNESS(HP:0001757), ONSET IN CHILDHOOD(HP:0003578), END STAGE RENAL DISEASE(HP:0003774), THROMBOSIS(HP:0001977), PROTEINURIA(HP:0000093), DEAFNESS, BILATERAL SENSORINEURAL, HIGH FREQUENCY(HP:0008579), ECCHYMOSES(HP:0000978), SEVERE THROMBOCYTOPENIA(HP:0004838), HIGH-FREQUENCY HEARING LOSS(HP:0005101), MICROSCOPIC HEMATURIA(HP:0002907), LEUKOCYTE INCLUSION BODIES (DOHLE-LIKE BODIES)(HP:0001932), NEPHRITIS(HP:0000123)]
4629	MYH11	[ABNORMALITY OF THE EYES(HP:0000478), METABOLISM ABNORMALITY(HP:0001939), BICUSPID AORTIC VALVE(HP:0001647), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DISSECTING AORTIC ANEURYSM(HP:0002622), AORTIC ANEURYSMS(HP:0004942)]
4644	MYO5A	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ACCUMULATION OF MELANOSOMES IN MELANOCYTES(HP:0001008), HYPOPIGMENTATION OF THE SKIN(HP:0001010), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), SILVER-GRAY HAIR(HP:0002218), MELANIN PIGMENT AGGREGATION IN HAIR SHAFTS(HP:0002220), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579)]
4645	MYO5B	[DEATH IN INFANCY(HP:0001522), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEHYDRATION(HP:0001944), PROTRACTED DIARRHEA(HP:0004385), GROWTH RETARDATION(HP:0001510), ENTEROPATHY(HP:0002628), MALNUTRITION(HP:0004395)]
4647	MYO7A	[ABOLISHED ELECTRORETINOGRAM (ERG)(HP:0000550), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), VERTIGO(HP:0002321), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), CONGENITAL CONDUCTIVE DEAFNESS(HP:0008525), VISUAL LOSS(HP:0000572), PROFOUND SENSORINEURAL HEARING LOSS(HP:0008565), CATARACT(HP:0000518), PROFOUND CONGENITAL DEAFNESS(HP:0008563), ATAXIA(HP:0001251), MENTAL RETARDATION(HP:0001249), PROGRESSIVE RETINITIS PIGMENTOSA(HP:0001127), VESTIBULAR AREFLEXIA(HP:0008568), MOTOR RETARDATION(HP:0001270), ONSET IN FIRST DECADE(HP:0003582), ABSENT VESTIBULAR FUNCTION(HP:0008555), ONSET AT BIRTH(HP:0003577), HETEROGENEOUS(HP:0001425), BLINDNESS(HP:0000618), VARIABLE AGE AT ONSET(HP:0003618), METABOLISM ABNORMALITY(HP:0001939), PSYCHOSIS(HP:0000709), HEARING LOSS, SENSORINEURAL, BILATERAL(HP:0008619), CONGENITAL SENSORINEURAL DEAFNESS(HP:0008620), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
4653	MYOC	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), GLAUCOMA(HP:0000501), ABNORMAL IRIS VASCULATURE(HP:0007905)]
4668	NAGA	[WHITE MATER ABNORMALITIES IN THE POSTERIOR PERIVENTRICULAR REGION(HP:0006812), DRY SKIN(HP:0000958), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), COARSE FACIAL FEATURES(HP:0000280), HEARING LOSS, SENSORINEURAL(HP:0000407), LIMB CONTRACTURES BY AGE 4-5 YEARS(HP:0005839), GENERALIZED AMYOTROPHY(HP:0003700), VERTIGO(HP:0002321), OSTEOPENIA(HP:0000938), HYPERREFLEXIA(HP:0001347), DISTAL SENSORY IMPAIRMENT OF ALL MODALITIES(HP:0003409), FULL LIPS(HP:0000170), MUSCULAR HYPOTONIA(HP:0001252), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), LOSS OF DEVELOPMENTAL MILESTONES(HP:0002471), SPASTICITY(HP:0001257), FLATTENED NASAL BRIDGE(HP:0000425), ONSET IN ADULTHOOD(HP:0003581), ONSET IN INFANCY(HP:0003576), COGNITIVE IMPAIRMENT(HP:0002128), INCREASED URINARY O-LINKED SIALOPEPTIDES(HP:0003461), ABNORMAL URINARY AMINO-ACID FINDINGS(HP:0003355), LYMPHEDEMA(HP:0001004), DISTAL SENSORY IMPAIRMENT(HP:0002936), NYSTAGMUS(HP:0000639), MYOCLONUS(HP:0001336), ANGIOKERATOMA CORPORIS DIFFUSUM(HP:0001071), DISTAL LIMB MUSCLE WEAKNESS(HP:0003497), TELANGIECTASIA ON LIPS AND ORAL MUCOSA(HP:0007428), MRI MAY SHOW ATROPHY OF THE CEREBRUM(HP:0006890), CORTICAL BLINDNESS(HP:0000595), AXONAL PERIPHERAL NEUROPATHY(HP:0007169), HYPERKERATOSIS(HP:0000962), STRABISMUS(HP:0000486), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
4669	NAGLU	[CARDIOMEGALY(HP:0001640), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILDLY COARSE FACIES(HP:0000281), DYSOSTOSIS MULTIPLEX(HP:0000943), SEVERE BEHAVIORAL PROBLEMS AT AGE 3-4(HP:0002456), SEIZURES(HP:0001250), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), MILD HEPATOMEGALY(HP:0001398), DIARRHEA(HP:0002014), FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740), MILD SPLENOMEGALY(HP:0001745), SYNOPHRYS(HP:0000664), ONSET IN EARLY CHILDHOOD(HP:0003580), SLEEP DISTURBANCES(HP:0002360), OVOID THORACOLUMBAR VERTEBRAE(HP:0003309), THICKENED RIBS(HP:0000900), COARSE HAIR(HP:0002208), HIRSUTISM(HP:0001007), HYPERACTIVITY(HP:0000752), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), SLOWING MENTAL DEVELOPMENT BY 1.5 TO 3 YEARS OF AGE(HP:0002402), AGGRESSIVE BEHAVIOR(HP:0000718), MILD JOINT STIFFNESS(HP:0003033), DENSE CALVARIA(HP:0000250), HEARING LOSS(HP:0000365), HEPARAN SULFATE EXCRETION IN URINE(HP:0002159)]
4683	NBN	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), MASTOIDITIS(HP:0000265), NEURODEGENERATION(HP:0002180), RECURRENT INFECTIONS(HP:0002719), PROMINENT MIDFACE(HP:0000310), THROMBOCYTOPENIA(HP:0001873), GLIOMA(HP:0009733), DYSGAMMAGLOBULINEMIA(HP:0002961), SLOPING FOREHEAD(HP:0000340), PRIMARY OVARIAN FAILURE(HP:0001587), UPSLANTING PALPEBRAL FISSURES(HP:0000582), HYDRONEPHROSIS(HP:0000126), CAFE-AU-LAIT SPOTS(HP:0000957), LARGE, DYSPLASTIC EARS(HP:0000401), RHABDOMYOSARCOMA(HP:0002859), ANAL ATRESIA(HP:0002023), PROGRESSIVE VITILIGO(HP:0005602), ANAL STENOSIS(HP:0002025), OTITIS MEDIA(HP:0000388), CLEFT PALATE(HP:0000175), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), LONG NOSE(HP:0003189), DIARRHEA(HP:0002014), BRONCHIECTASIS(HP:0002110), BRONCHITIS(HP:0002837), RECURRENT PNEUMONIA(HP:0002095), PRENATAL GROWTH DEFICIENCY(HP:0001515), CLEFT LIP(HP:0000204), DECREASED BODY HEIGHT(HP:0004322), HYPERACTIVITY(HP:0000752), CHOANAL ATRESIA(HP:0000453), LYMPHOMA(HP:0002665), MICROGNATHIA(HP:0000210), MEDULLOBLASTOMA(HP:0002885), MENTAL RETARDATION BY THE AGE OF 7 YEARS(HP:0007176), MICROCEPHALY(HP:0000252), SINUSITIS(HP:0000246)]
4688	NCF2	[RECTAL ABSCESS(HP:0005224), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KLEBSIELLA INFECTIONS(HP:0002742), E. COLI INFECTIONS(HP:0002740), SERRATIA MARCESCENS INFECTIONS(HP:0002741), STAPHYLOCOCCUS AUREUS INFECTIONS(HP:0002726), ASPERGILLUS INFECTIONS(HP:0002724), ABSENCE OF BACTERICIDAL OXIDATIVE 'RESPIRATORY BURST' IN PHAGOCYTES(HP:0002723), ABSCESS FORMATION IN ANY ORGAN(HP:0002722), IMMUNODEFICIENCY(HP:0002721), LYMPHADENOPATHY(HP:0002716), PNEUMONIA DUE TO IMMUNODEFICIENCY(HP:0002096), CELLULITIS DUE TO IMMUNODEFICIENCY(HP:0003553), TISSUE BIOPSY SHOWS GRANULOMAS(HP:0002955), HEPATIC ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0001400), SPLENOMEGALY(HP:0001744), PERIRECTAL ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0002567), BURKHOLDERIA CEPACIA INFECTIONS(HP:0002842), LYMPHADENITIS(HP:0002840), HYPOKINESIA(HP:0002375), NEGATIVE NITROBLUE TETRAZOLIUM (NBT) REDUCTION TEST(HP:0003203), DECREASED ACTIVITY OF NADPH OXIDASE(HP:0003206), ONSET USUALLY IN FIRST DECADE(HP:0003619), HEPATOMEGALY(HP:0002240), ECZEMATOID DERMATITIS(HP:0000976), DERMATITIS, INFECTIOUS, DUE TO IMMUNODEFICIENCY IMPETIGO(HP:0000983), DISCOID LUPUS IN CARRIERS OR ADULTS WITH MILD DISEASE(HP:0000981), OSTEOMYELITIS DUE TO IMMUNODEFICIENCY(HP:0002755)]
4692	NDN	[MYOPIA(HP:0000545), TEMPERATURE INSTABILITY(HP:0005968), GROWTH HORMONE DEFICIENCY(HP:0000824), EARLY DENTAL CARIES(HP:0006306), CRYPTORCHIDISM(HP:0000028), DOLICHOCEPHALY(HP:0000268), HYPERNASAL SPEECH(HP:0001614), FRONTAL HAIR UPSWEEP(HP:0002236), GENERALIZED MUSCLE WEAKNESS(HP:0003324), BITEMPORAL NARROWING(HP:0000314), SCROTAL HYPOPLASIA(HP:0000046), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), MICROPENIS(HP:0000054), HYPERMETROPIA(HP:0000540), HYPOPLASTIC CLITORIS(HP:0000060), KYPHOSIS(HP:0002808), HYPOPLASTIC LABIA MINORA(HP:0000064), FALLS(HP:0002527), OLIGOMENORRHEA(HP:0000876), HYPOVENTILATION(HP:0002791), UPSLANTING PALPEBRAL FISSURES(HP:0000582), LEARNING DISABILITY(HP:0001328), HYPERINSULINEMIA(HP:0000842), DECREASED FETAL ACTIVITY(HP:0001559), NEONATAL HYPOTONIA(HP:0001319), POOR SUCK(HP:0002033), AMENORRHEA(HP:0000141), SMALL FEET(HP:0001764), WEAKNESS(HP:0002309), NARROW HAND(HP:0004283), OSTEOPOROSIS(HP:0000939), OSTEOPENIA(HP:0000938), SEIZURES(HP:0001250), MENTAL RETARDATION, MODERATE(HP:0002342), DEVELOPMENTAL RETARDATION(HP:0001263), POLYPHAGIA(HP:0002591), FAILURE TO THRIVE IN INFANCY(HP:0001531), SLEEP DISTURBANCES(HP:0002360), CLINODACTYLY OF HANDS(HP:0001157), FEEDING PROBLEMS IN INFANCY(HP:0008872), SYNDACTYLY(HP:0001159), SMALL HANDS(HP:0001165), TRUNCAL OBESITY(HP:0001956), THIN UPPER LIP(HP:0000219), PHOTOSENSITIVITY(HP:0000992), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), ISOLATED CASES(HP:0001420), FAIR SKIN(HP:0000984), POOR FINE MOTOR COORDINATION(HP:0007010), SLEEP APNEA(HP:0010535), SCOLIOSIS(HP:0002650), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486)]
4693	NDP	[CONGENITAL RETINAL FOLDS(HP:0008013), HEARING LOSS, SENSORINEURAL(HP:0000407), DEAFNESS(HP:0000404), HYPOPLASIA OF THE IRIS(HP:0007676), RETINAL DYSGENESIS(HP:0008022), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), CORNEAL CLOUDING(HP:0000515), DETACHED RETINA(HP:0000541), ENOPHTHALMOS(HP:0000663), PERIPHERAL VITREOUS OPACITIES(HP:0007710), HALLUCINATIONS(HP:0000738), BLINDNESS IN INFANCY OR VERY EARLY CHILDHOOD(HP:0007839), X-LINKED RECESSIVE INHERITANCE(HP:0001419), AGGRESSIVE BEHAVIOR(HP:0000718), RETINAL DYSPLASIA(HP:0007973), PSYCHOSIS(HP:0000709), SHALLOW ANTERIOR CHAMBER(HP:0000594), SUBRETINAL AND INTRARETINAL EXUDATES(HP:0007989), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), DEMENTIA(HP:0000726), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
4694	NDUFA1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), EPILEPSY(HP:0001275), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
4695	NDUFA2	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERREFLEXIA(HP:0001347), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), HYPERTRICHOSIS(HP:0000998), EMOTIONAL LABILITY(HP:0000712), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381)]
4703	NEB	[JOINT CONTRACTURES(HP:0001372), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE SEVERITY(HP:0003814), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178), ABSENCE OF SPONTANEOUS RESPIRATION(HP:0005958), NEMALINE BODIES(HP:0003798), GENERALIZED MUSCLE WEAKNESS(HP:0003324), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES WITHOUT DYSTROPHIC OR INFLAMMATORY CHANGES(HP:0003802), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), SEVERE ARTHROGRYPOSIS(HP:0001389), HYPERLORDOSIS(HP:0003307), ONSET IN INFANCY(HP:0003576), EMG SHOWS MYOPATHIC CHANGES EARLY IN DISEASE(HP:0009021), BULBAR PALSY(HP:0001283), MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211), WADDLING GAIT(HP:0002515), AREFLEXIA(HP:0001284), LOW-SET EARS(HP:0000369), DISTAL LIMB MUSCLE WEAKNESS OCCURS LATER(HP:0003728), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), POLYHYDRAMNIOS(HP:0001561), DECREASED FETAL MOVEMENT(HP:0001558), NEONATAL HYPOTONIA(HP:0001319), NECK FLEXOR WEAKNESS(HP:0003722), PROXIMAL MUSCLE WEAKNESS(HP:0003701), LIMB MUSCLE WEAKNESS(HP:0003690), HIGH-ARCHED PALATE(HP:0000156), FEEDING DIFFICULTIES(HP:0002022), MYOPATHIC FACIES(HP:0002058), CLEFT PALATE(HP:0000175), ASTHENIC HABITUS(HP:0001533), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), FREQUENT FALLS(HP:0002359), HYPOREFLEXIA(HP:0001265), RESPIRATORY INSUFFICIENCY(HP:0002093), ABNORMALITY OF THE EYES(HP:0000478), SCOLIOSIS(HP:0002650)]
4719	NDUFS1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), EPILEPSY(HP:0001275), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
4720	NDUFS2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), EPILEPSY(HP:0001275), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
4722	NDUFS3	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERREFLEXIA(HP:0001347), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), HYPERTRICHOSIS(HP:0000998), EMOTIONAL LABILITY(HP:0000712), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381)]
4723	NDUFV1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BULBAR SIGNS(HP:0002483), BLINDNESS(HP:0000618), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), PIGMENTARY RETINOPATHY(HP:0000580), DYSTONIA(HP:0001332), MUSCLE WEAKNESS(HP:0001324), OPHTHALMOPLEGIA(HP:0000602), DIFFUSE DEMYELINATION(HP:0006881), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), DYSARTHRIA(HP:0001260), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), EPILEPSY(HP:0001275), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), INCREASED CSF PROTEIN(HP:0002922), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), JUVENILE ONSET(HP:0003621), X-LINKED DOMINANT INHERITANCE(HP:0001423), HYPERTRICHOSIS(HP:0000998), PTOSIS(HP:0000508), EMOTIONAL LABILITY(HP:0000712), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), HYPOGLYCEMIA(HP:0001943), HYDROCEPHALUS(HP:0000238), LACTIC ACIDEMIA(HP:0003128), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), LEUKODYSTROPHY(HP:0002415), GLIOSIS(HP:0002171), INCREASED SERUM LACTATE(HP:0002151), ONSET IN ADOLESCENCE(HP:0003590), STRABISMUS(HP:0000486)]
4724	NDUFS4	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), EXERCISE INTOLERANCE(HP:0003546), CEREBRAL EDEMA(HP:0002181), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), PIGMENTARY RETINOPATHY(HP:0000580), DYSTONIA(HP:0001332), MUSCLE WEAKNESS(HP:0001324), OPHTHALMOPLEGIA(HP:0000602), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), DYSARTHRIA(HP:0001260), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), FAILURE TO THRIVE(HP:0001508), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), EPILEPSY(HP:0001275), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), X-LINKED DOMINANT INHERITANCE(HP:0001423), HYPERTRICHOSIS(HP:0000998), PTOSIS(HP:0000508), EMOTIONAL LABILITY(HP:0000712), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), LEUKODYSTROPHY(HP:0002415), GLIOSIS(HP:0002171), INCREASED SERUM LACTATE(HP:0002151), STRABISMUS(HP:0000486), DEMYELINATION(HP:0003381)]
4726	NDUFS6	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), EPILEPSY(HP:0001275), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
4728	NDUFS8	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERREFLEXIA(HP:0001347), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), HYPERTRICHOSIS(HP:0000998), EMOTIONAL LABILITY(HP:0000712), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381)]
4747	NEFL	[PES CAVUS(HP:0001761), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HAMMER TOES(HP:0001765), VARIABLE SEVERITY(HP:0003814), DISTAL AMYOTROPHY(HP:0003693), NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437), SEGMENTAL DEMYELINATION/REMYELINATION ON NERVE BIOPSY(HP:0003425), HYPOTROPHY OF THE SMALL HAND MUSCLES(HP:0006006), MOTOR RETARDATION(HP:0001270), HYPOREFLEXIA(HP:0001265), ONSET IN INFANCY OR CHILDHOOD(HP:0003583), CLUSTERS OF AXONAL REGENERATION(HP:0007233), HETEROGENEOUS(HP:0001425), SEGMENTAL DEMYELINATION(HP:0007107), SMALL HANDS(HP:0001165), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV) (LESS THAN 38 M/S)(HP:0000760), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178), AREFLEXIA(HP:0001284), IRREGULAR MYELIN FOLDINGS(HP:0006898), FOOT DROP(HP:0003377), 'STEPPAGE' GAIT(HP:0003376), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383)]
4758	NEU1	[CARDIOMEGALY(HP:0001640), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACIAL EDEMA(HP:0000282), COARSE FACIAL FEATURES(HP:0000280), CARDIOMYOPATHY(HP:0001638), INGUINAL HERNIA(HP:0000023), SLURRED SPEECH(HP:0001350), HYPERREFLEXIA(HP:0001347), CATARACT(HP:0000518), CHERRY RED SPOT OF THE MACULA(HP:0010729), STILLBIRTH(HP:0001624), PROGRESSIVE VISUAL LOSS(HP:0000529), DYSMETRIA(HP:0001310), AMYOTROPHY(HP:0003202), STIPPLING OF THE EPIPHYSES(HP:0010655), PROTEINURIA(HP:0000093), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), MYOCLONUS(HP:0001336), ASCITES(HP:0001541), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), MENTAL RETARDATION, MODERATE TO SEVERE(HP:0002316), DYSOSTOSIS MULTIPLEX(HP:0000943), HYDROPS FETALIS(HP:0001789), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), MENTAL RETARDATION, MODERATE(HP:0002342), SPLENOMEGALY(HP:0001744), DECREASED BODY HEIGHT(HP:0004322), LARGE VACUOLATED FOAM CELLS ('NP CELLS') ON BONE MARROW BIOPSY(HP:0001979), HYDROPS(HP:0000990), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), EDEMA(HP:0000969), VACUOLATED LYMPHOCYTES(HP:0001922)]
4763	NF1	[PULMONIC STENOSIS(HP:0001642), MALAR HYPOPLASIA(HP:0000272), HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), GENU VALGUM(HP:0002857), MENINGIOMA(HP:0002858), RHABDOMYOSARCOMA(HP:0002859), TIBIAL PSEUDOARTHROSIS(HP:0009736), LISCH NODULES(HP:0009737), OPTIC GLIOMA(HP:0009734), NEUROFIBROMAS CAN OCCUR AT CERVICAL, THORACIC, LUMBAR, AND SACRAL LEVELS(HP:0007077), SPINAL NEUROFIBROMAS(HP:0009735), PSEUDOARTHROSIS(HP:0005864), PLEXIFORM NEUROFIBROMA(HP:0009732), HYPERTELORISM(HP:0000316), NEUROFIBROMAS MAY OR MAY NOT BE PRESENT(HP:0007386), MENTAL RETARDATION, MILD(HP:0001256), RELATIVE MACROCEPHALY(HP:0004482), EPILEPSY(HP:0001275), NEUROFIBROMATOSIS(HP:0006746), DECREASED BODY HEIGHT(HP:0004322), WEBBED NECK(HP:0000465), PARAPARESIS(HP:0002385), HYPSARRHYTHMIA(HP:0002521), PHEOCHROMOCYTOMA(HP:0002666), SPINAL NERVE ROOT NEUROFIBROMAS, SYMMETRIC, MULTIPLE(HP:0006851), AXILLARY FRECKLING(HP:0000997), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), PTOSIS(HP:0000508), OVERGROWTH(HP:0001548), HYDROCEPHALUS(HP:0000238), LOW-SET EARS(HP:0000369), ASTROCYTOMA(HP:0009592), GLAUCOMA(HP:0000501), LEARNING DISABILITY(HP:0001328), SPINA BIFIDA(HP:0002414), SCOLIOSIS(HP:0002650), AQUEDUCTAL STENOSIS(HP:0002410), SPINAL TUMOR(HP:0010302), MULTIPLE CAFE-AU-LAIT SPOTS(HP:0007565), SECUNDUM ATRIAL SEPTAL DEFECT(HP:0001684), PARATHYROID ADENOMA(HP:0002897), CAFE-AU-LAIT SPOTS MAY OR MAY NOT BE PRESENT(HP:0007454), RENAL ARTERY STENOSIS(HP:0001920), PROMINENT NASOLABIAL FOLDS(HP:0005272)]
4771	NF2	[ABNORMALITY OF THE CHROMOSOMES(HP:0002916), VARIABLE EXPRESSIVITY(HP:0003828), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCOMPLETE PENETRANCE(HP:0003829), HEADACHE(HP:0002315), NEUROFIBROMATOSIS(HP:0006746), MENINGIOMA(HP:0002858), JUVENILE CORTICAL CATARACT(HP:0007876), OCCASIONAL CAFE-AU-LAIT SPOTS(HP:0005601), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), OCCASIONAL NEUROFIBROMAS(HP:0009595), ATAXIA(HP:0001251), RETINAL HAMARTOMA(HP:0009594), PERIPHERAL SCHWANNOMA(HP:0009593), ASTROCYTOMA(HP:0009592), UNILATERAL VESTIBULAR SCHWANNOMA(HP:0009590), EPENDYMOMA(HP:0002888), BILATERAL VESTIBULAR SCHWANNOMA(HP:0009589), JUVENILE POSTERIOR SUBCAPSULAR LENTICULAR OPACITIES(HP:0007935), SPINAL TUMOR(HP:0010302), HEARING LOSS(HP:0000365), TINNITUS(HP:0000360)]
4792	NFKBIA	[SPARSE HAIR(HP:0008070), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONICAL TEETH(HP:0000698), RECURRENT INFECTIONS(HP:0002719), FRONTAL BOSSING(HP:0002007), HYPODONTIA(HP:0000668), ANHIDROSIS(HP:0000970), GASTROINTESTINAL INFECTIONS(HP:0004798), ONSET IN INFANCY(HP:0003576), HYPOHIDROSIS(HP:0000966)]
4803	NGF	[NEUROPATHY(HP:0003407), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SELF-MUTILATION(HP:0000742), ACRAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION OF THE DIGITS(HP:0001226), FEVER, EPISODIC(HP:0001954), PAINLESS FRACTURES DUE TO INJURY(HP:0002661), ACCIDENTAL INJURY AND ULCERATION OF THE LIPS AND TONGUE DUE TO DECREASED SENSATION(HP:0002713), DISTAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION(HP:0005040), ANHIDROSIS(HP:0000970), OSTEOMYELITIS(HP:0002754), ACRAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION OF THE DIGITS (FEET)(HP:0001862), ONSET IN INFANCY(HP:0003576)]
4810	NHS	[SUPERNUMERARY MAXILLARY INCISORS(HP:0006332), BROAD FINGERS(HP:0001500), DIASTEMA(HP:0000699), POSTERIOR Y-SUTURAL CATARACT(HP:0008031), VISUAL LOSS(HP:0000572), MICROPHTHALMOS(HP:0000568), MENTAL RETARDATION, MODERATE(HP:0002342), LONG, NARROW FACIES(HP:0000318), PROMINENT NASAL BRIDGE(HP:0000426), X-LINKED DOMINANT INHERITANCE(HP:0001423), NYSTAGMUS(HP:0000639), PROMINENT NOSE(HP:0000448), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), AUTISM(HP:0000717), GLAUCOMA(HP:0000501), SCREWDRIVER BLADE-SHAPED INCISORS(HP:0006346), ABNORMALITY OF THE EARS(HP:0000598), MICROCORNEA(HP:0000482)]
4830	NME1	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCOMPLETE PENETRANCE(HP:0003829), GANGLIONEUROMA(HP:0003005), ABDOMINAL DISTENTION(HP:0003270), HIGHLY VARIABLE PHENOTYPE(HP:0003815), ANEMIA(HP:0001903), SPINAL CORD COMPRESSION(HP:0002176), ABDOMINAL PAIN(HP:0002027), SKIN NODULES(HP:0200036), AGE OF ONSET(HP:0003674), ATAXIA(HP:0001251), DIARRHEA(HP:0002014), FAILURE TO THRIVE(HP:0001508), NEUROBLASTOMA, ARISES ANYWHERE ALONG THE SYMPATHETIC CHAIN(HP:0006738), HETEROGENEOUS(HP:0001425), GANGLIONEUROBLASTOMA(HP:0006747), ABNORMALITY OF THE THORAX(HP:0000765), WEIGHT LOSS(HP:0001824), ISOLATED CASES(HP:0001420), MYOCLONUS(HP:0001336), ECCHYMOSES(HP:0000978), BONE PAIN(HP:0002653), OPSOCLONUS(HP:0010543), FEVER(HP:0001945), HORNER SYNDROME(HP:0002277)]
4838	NODAL	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEXTROCARDIA(HP:0001651), TRANSPOSITION OF THE GREAT VESSELS(HP:0001669), ABDOMINAL SITUS INVERSUS(HP:0003363), INTRAUTERINE GROWTH RETARDATION(HP:0001511), VENTRICULAR SEPTAL DEFECT(HP:0001629), RESPIRATORY ABNORMALITY(HP:0002086), ATRIAL SEPTAL DEFECT(HP:0001631)]
4851	NOTCH1	[BICUSPID AORTIC VALVE(HP:0001647)]
4854	NOTCH3	[NEUROPATHY(HP:0003407), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VARICOSE VEINS(HP:0002619), MIGRAINE(HP:0002076), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), URINARY INCONTINENCE(HP:0000020), VISUAL LOSS(HP:0000572), ABNORMALITY OF VISION EVOKED POTENTIALS(HP:0000649), ABNORMAL ELECTRORETINOGRAM(HP:0000512), SEIZURES(HP:0001250), LEUKOENCEPHALOPATHY(HP:0002352), NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY(HP:0007634), ONSET IN ADULTHOOD(HP:0003581), RECURRENT SUBCORTICAL INFARCTS(HP:0007236), PSYCHIATRIC DISORDERS(HP:0002368), STROKE(HP:0001297), GAIT DISTURBANCE(HP:0001288), SUBCORTICAL DEMENTIA, PROGRESSIVE(HP:0007123), PSEUDOBULBAR PARALYSIS(HP:0007024)]
4860	PNP	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AUTOIMMUNE NEUTROPENIA(HP:0001904), SMALL LYMPH NODES(HP:0002732), LYMPHOPENIA(HP:0001888), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), MARKEDLY REDUCED T CELL FUNCTION(HP:0005409), URINARY TRACT INFECTIONS(HP:0000094), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), TREMOR(HP:0001337), RECURRENT LOWER RESPIRATORY TRACT INFECTIONS(HP:0002783), FREQUENT BACTERIAL, VIRAL, AND OPPORTUNISTIC INFECTIONS(HP:0005390), TETRAPARESIS(HP:0002273), ABNORMAL B CELL FUNCTION(HP:0005372), OTITIS MEDIA(HP:0000388), CEREBRAL VASCULITIS(HP:0005318), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), MENTAL RETARDATION(HP:0001249), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), SPLENOMEGALY(HP:0001744), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), SPASTIC DIPLEGIA(HP:0001264), PNEUMONIA(HP:0002090), HYPERTONIA(HP:0001276), LYMPHOMA(HP:0002665), IDIOPATHIC THROMBOCYTOPENIA(HP:0001936), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), SINUSITIS(HP:0000246)]
4864	NPC1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEUROFIBRILLARY TANGLES(HP:0002185), HIGHLY VARIABLE PHENOTYPE(HP:0003815), FETAL ASCITES(HP:0001791), FATAL LIVER FAILURE IN INFANCY(HP:0006583), CEREBELLAR ATAXIA(HP:0001253), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), HIGHLY VARIABLE PHENOTYPE AND AGE OF ONSET(HP:0003664), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), SPASTICITY(HP:0001257), SPLENOMEGALY(HP:0001744), MENTAL DETERIORATION(HP:0001268), FOAM CELLS CONTAIN POLYMORPHIC CYTOPLASMIC INCLUSIONS CONSISTING OF LAMELLAR OSMIOPHILIC MEMBRANES ON ELECTRON MICROSCOPY(HP:0003650), HYPOKINESIA(HP:0002375), FOAM CELLS ON BONE MARROW BIOPSY(HP:0004333), HETEROGENEOUS(HP:0001425), LOSS OF SPEECH(HP:0002371), FOAM CELLS IN VISCERAL ORGANS AND CNS(HP:0003640), 'SEA-BLUE' HISTIOCYTES(HP:0001982), ABNORMAL CHOLESTEROL HOMEOSTASIS(HP:0003464), CATAPLEXY(HP:0002524), HEPATOMEGALY(HP:0002240), LOW CHOLESTEROL ESTERIFICATION RATES(HP:0003349), NEONATAL JAUNDICE(HP:0000986), VERTICAL SUPRANUCLEAR GAZE PALSY(HP:0000511), NEURONAL LOSS(HP:0002400), PSYCHOSIS(HP:0000709), DYSTONIA(HP:0001332), POOR SCHOOL PERFORMANCE(HP:0000730), EARLY ONSET(HP:0003593), DEMENTIA(HP:0000726)]
4867	NPHP1	[JUVENILE NEPHRONOPHTHISIS(HP:0004748), HYPERTENSION(HP:0000822), TAPETORETINAL DEGENERATION(HP:0000547), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), HYPOSTHENURIA(HP:0003158), ANEMIA(HP:0001903), HYPOMETRIC SACCADES(HP:0000571), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), GROWTH RETARDATION(HP:0001510), TUBULOINTERSTITIAL MEDULLARY CYSTIC KIDNEY DISEASE(HP:0005582), TUBULAR BASEMENT MEMBRANE DISINTEGRATION(HP:0005583), OCULOMOTOR APRAXIA(HP:0000657), HETEROGENEOUS(HP:0001425), COGNITIVE IMPAIRMENT, MILD(HP:0002129), END STAGE RENAL DISEASE(HP:0003774), POLYDIPSIA(HP:0001959), TUBULAR ATROPHY(HP:0000092), NYSTAGMUS(HP:0000639), THICK AND ELONGATED SUPERIOR CEREBELLAR PEDUNCLES(HP:0002404), POLYURIA(HP:0000103), GROSS MOTOR DELAY, MILD(HP:0006905), CORTICOMEDULLARY CYSTS(HP:0000108), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), 'MOLAR TOOTH SIGN' ON MRI(HP:0002419)]
4868	NPHS1	[HYPOTHYROIDISM(HP:0000821), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABDOMINAL DISTENTION(HP:0003270), PYLORIC STENOSIS(HP:0002021), GASTROESOPHAGEAL REFLUX(HP:0002020), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), HYPOALBUMINEMIA(HP:0003073), HYPOPROTEINEMIA(HP:0003075), NEONATAL RESPIRATORY DISTRESS(HP:0002643), RECURRENT INFECTIONS(HP:0002719), EDEMA(HP:0000969), CONGENITAL NEPHROSIS(HP:0008677), LOW BIRTH WEIGHT(HP:0001518)]
4869	NPM1	[ACUTE MYELOID LEUKEMIA(HP:0004808), FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
4878	NPPA	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ENDOCRINE ABNORMALITY(HP:0000818), ATRIAL FIBRILLATION(HP:0005110)]
4882	NPR2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RADIAL BOWING(HP:0002986), BOWING OF THE LEGS(HP:0002979), LOWER THORACIC KYPHOSIS(HP:0004633), ANTERIOR BEAKING OF VERTEBRAL BODIES(HP:0003313), JOINT LAXITY(HP:0001388), OVOID VERTEBRAL BODIES(HP:0003300), SHORT, BROAD METATARSALS(HP:0001865), GENU VARUM(HP:0002970), LIMITED ELBOW EXTENSION(HP:0001377), GENU VARUS(HP:0003052), INCREASED LENGTH OF THE HALLUX(HP:0001847), HYPOPLASIA OF THE TOES(HP:0004701), SHORT STATURE, DISPROPORTIONATE(HP:0003498), METAPHYSEAL FLARING(HP:0003015), NARROW THORACOLUMBAR INTERPEDICULATE DISTANCE(HP:0008484), SHORT LONG BONES(HP:0003026), SHORT NAILS(HP:0001799), THORACOLUMBAR KYPHOSIS(HP:0005619), SHORT, BROAD FINGERS(HP:0001497), NASAL HYPOPLASIA(HP:0003196), FRONTAL BOSSING(HP:0002007), PROGRESSIVE SHORTENING OF RADIUS IN FIRST YEAR(HP:0006418), LOOSE, REDUNDANT SKIN ON FINGERS(HP:0007516), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), ACROMESOMELIA(HP:0003086), ABNORMALITY OF THE THORAX(HP:0000765), SHORT, WIDE PHALANGES(HP:0006030), LUMBAR HYPERLORDOSIS(HP:0002938), SHORT, BROAD METACARPALS(HP:0006065)]
4891	SLC11A2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANEMIA(HP:0001903), ABNORMALITY OF THE LIVER(HP:0001392)]
4893	NRAS	[TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RENAL CELL CARCINOMA(HP:0005584), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), FOLLICULAR THYROID CARCINOMA(HP:0006731)]
4914	NTRK1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CORNEAL SCARRING(HP:0000559), SELF-MUTILATION(HP:0000742), ACRAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION OF THE DIGITS(HP:0001226), MEDULLARY THYROID CARCINOMA(HP:0002865), AUTONOMIC DYSFUNCTION(HP:0002387), SKIN ULCER(HP:0200042), POSTURAL HYPOTENSION WITH COMPENSATORY TACHYCARDIA(HP:0005307), HYPERACTIVITY(HP:0000752), HYPOTRICHOSIS OF THE SCALP(HP:0004782), EMOTIONAL LABILITY(HP:0000712), NAIL DYSPLASIA(HP:0002164), NEUROPATHIC ARTHROPATHY(HP:0002821), ACCIDENTAL INJURY AND ULCERATION OF THE LIPS AND TONGUE DUE TO DECREASED SENSATION(HP:0002713), MENTAL RETARDATION(HP:0001249), IMMUNOLOGICAL ABNORMALITY(HP:0002715), CORNEAL CLOUDING(HP:0000515), DEVELOPMENTAL RETARDATION(HP:0001263), PAIN INSENSITIVITY, DIFFUSE(HP:0007021), DISTAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION(HP:0005040), DECREASED SMALL MYELINATED NERVE FIBERS(HP:0007249), ANHIDROSIS(HP:0000970), RECURRENT CORNEAL EROSIONS(HP:0000495), FEVER, EPISODIC, SEVERE(HP:0004903), KERATITIS(HP:0000491), OSTEOMYELITIS(HP:0002754), ONSET IN INFANCY(HP:0003576), ACRAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION OF THE DIGITS (FEET)(HP:0001862)]
4920	ROR2	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), LONG EYELASHES(HP:0000527), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), HYPOPLASTIC LABIA MAJORA(HP:0000059), PROMINENT EYES(HP:0000536), HYPOPLASTIC CLITORIS(HP:0000060), APLASIA/HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009835), RENAL DUPLICATION(HP:0000075), NEVUS FLAMMEUS(HP:0001052), LONG PALPEBRAL FISSURES(HP:0000637), UMBILICAL HERNIA(HP:0001537), HYDRONEPHROSIS(HP:0000126), DENTAL OVERCROWDING(HP:0000678), APLASTIC/HYPOPLASTIC FINGERNAILS(HP:0008384), MACROGLOSSIA(HP:0000158), DELAYED ERUPTION OF SECONDARY TEETH(HP:0000696), TYPE A BRACHYDACTYLY(HP:0009370), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), PARTIAL/COMPLETE DUPLICATION OF THE DISTAL PHALANGES OF THE HAND(HP:0009883), TRIANGULAR MOUTH(HP:0000207), CLINODACTYLY OF HANDS(HP:0001157), SYNDACTYLY(HP:0001159), SMALL HANDS(HP:0001165), RIGHT VENTRICULAR OUTLET OBSTRUCTION(HP:0001705), HYPOPLASTIC SACRUM(HP:0004590), PECTUS EXCAVATUM(HP:0000767), THIN UPPER LIP(HP:0000219), GINGIVAL HYPERPLASIA(HP:0000212), MICROGNATHIA(HP:0000210), NAIL DYSPLASIA(HP:0002164), ABSENT UVULA(HP:0010292), BIFID TONGUE(HP:0010297), MALAR HYPOPLASIA(HP:0000272), RETROGNATHIA(HP:0000278), MACROCEPHALY(HP:0000256), WIDE ANTERIOR FONTANEL(HP:0000260), DELAYED CLOSURE OF FONTANELLES(HP:0000270), VERTEBRAL FUSION(