TaoMedAI/RareMedData huggingface dataset:
Gene: AARS1
Phenotype: Retrognathia (HP:0000278)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Concave nail (HP:0001598)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Vegetative state (HP:0031358)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Hemianopia (HP:0012377)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 (OMIM:619661)
Gene: AARS1
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Bird-like facies (HP:0000320)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Strabismus (HP:0000486)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Microcornea (HP:0000482)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Prominent nose (HP:0000448)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Protruding ear (HP:0000411)
Associated disease: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE (OMIM:619691)
Gene: AARS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N (OMIM:613287)
Gene: AARS1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 (OMIM:616339)
Gene: AARS1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Split nail (HP:0001809)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Fragile nails (HP:0001808)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Ridged nail (HP:0001807)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Esotropia (HP:0000565)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: AARS1
Phenotype: Myopia (HP:0000545)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: AARS1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: ABAT
Phenotype: Progressive psychomotor deterioration (HP:0007272)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Lethargy (HP:0001254)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Lethargy (HP:0001254)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Seizure (HP:0001250)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Seizure (HP:0001250)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Hypotonia (HP:0001252)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Hypotonia (HP:0001252)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Increased level of gamma-aminobutyric acid in urine (HP:0500253)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Death in childhood (HP:0003819)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Tall stature (HP:0000098)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Tall stature (HP:0000098)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: High-pitched cry (HP:0025430)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: High-pitched cry (HP:0025430)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Elevated circulating gamma-aminobutyric acid concentration (HP:0410053)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Elevated CSF gamma-aminobutyric acid concentration (HP:0032531)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Hypersomnia (HP:0100786)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: EEG abnormality (HP:0002353)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Neonatal onset (HP:0003623)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Retrognathia (HP:0000278)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABAT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GABA transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency (ORPHA:2066)
Gene: ABAT
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Gene: ABCA1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Xanthelasma (HP:0001114)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: ABCA1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1 (OMIM:604091)
Gene: ABCA1
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: ABCA1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Chronic noninfectious lymphadenopathy (HP:0002730)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Carotid artery stenosis (HP:0100546)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1 (OMIM:604091)
Gene: ABCA1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Progressive peripheral neuropathy (HP:0007133)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Accelerated atherosclerosis (HP:0004943)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Elevated circulating apolipoprotein A-II concentration (HP:0031800)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Blurred vision (HP:0000622)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: ABCA1
Phenotype: Anemia (HP:0001903)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Decreased circulating apolipoprotein A-I concentration (HP:0031799)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Ectropion (HP:0000656)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Ectropion (HP:0000656)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: ABCA1
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1 (OMIM:604091)
Gene: ABCA1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: ABCA1
Phenotype: Orange discolored tonsils (HP:0030814)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: ABCA1
Phenotype: Dry skin (HP:0000958)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Dry skin (HP:0000958)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Coronary artery stenosis (HP:0005145)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: ABCA1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1 (OMIM:604091)
Gene: ABCA1
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: ABCA1
Phenotype: Angina pectoris (HP:0001681)
Associated disease: ApoA-I deficiency; Familial hypoalphalipoproteinemia; Apolipoprotein A-I deficiency; Familial apoA-I deficiency (ORPHA:425)
Gene: ABCA1
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Cicatricial ectropion (HP:0025608)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1 (OMIM:604091)
Gene: ABCA1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Visual impairment (HP:0000505)
Associated disease: TANGIER DISEASE (OMIM:205400)
Gene: ABCA1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Analphalipoproteinemia; Tangier disease; ATP-binding cassette transporter A1 deficiency (ORPHA:31150)
Gene: ABCA2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Dysarthria (HP:0001260)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Fair hair (HP:0002286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)