TaoMedAI/RareMedData huggingface dataset:
Gene: EMG1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: BOWEN-CONRADI SYNDROME (OMIM:211180)
Gene: TOMM40
Phenotype: Language impairment (HP:0002463)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Deposits immunoreactive to beta-amyloid protein (HP:0003791)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Hypertonia (HP:0001276)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Confusion (HP:0001289)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Seizure (HP:0001250)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Ataxia (HP:0001251)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Myoclonus (HP:0001336)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Apraxia (HP:0002186)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Finger agnosia (HP:0010525)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Aphasia (HP:0002381)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Memory impairment (HP:0002354)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Hallucinations (HP:0000738)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Disinhibition (HP:0000734)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Agitation (HP:0000713)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Dementia (HP:0000726)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Semantic dementia (HP:0030219)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TOMM40
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: HAX1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Seizure (HP:0001250)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Clumsiness (HP:0002312)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: HAX1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Gene: GPNMB
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 (OMIM:617920)
Gene: GPNMB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 (OMIM:617920)
Gene: GPNMB
Phenotype: Hypopigmented macule (HP:0020073)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 (OMIM:617920)
Gene: GPNMB
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 (OMIM:617920)
Gene: GPNMB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 (OMIM:617920)
Gene: GPNMB
Phenotype: Childhood onset (HP:0011463)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 (OMIM:617920)
Gene: GPNMB
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 (OMIM:617920)
Gene: GPNMB
Phenotype: Pruritus (HP:0000989)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 (OMIM:617920)
Gene: GPNMB
Phenotype: Dry skin (HP:0000958)
Associated disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 (OMIM:617920)
Gene: MAD2L2
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Spina bifida (HP:0002414)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
Gene: MAD2L2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
Gene: MAD2L2
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
Gene: MAD2L2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Anemia (HP:0001903)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
Gene: MAD2L2
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
Gene: MAD2L2
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Childhood onset (HP:0011463)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
Gene: MAD2L2
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Chromosomal breakage induced by crosslinking agents (HP:0003221)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
Gene: MAD2L2
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
Gene: MAD2L2
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
Gene: MAD2L2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: MAD2L2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
Gene: MERTK
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 38 (OMIM:613862)