TaoMedAI/RareMedData huggingface dataset:
Gene: SLC35A3
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: SLC35A3-CDG; Autism spectrum disorder-epilepsy-arthrogryposis syndrome (ORPHA:370943)
Gene: SLC35A3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
Gene: SLC35A3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: SLC35A3-CDG; Autism spectrum disorder-epilepsy-arthrogryposis syndrome (ORPHA:370943)
Gene: SLC35A3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SLC35A3-CDG; Autism spectrum disorder-epilepsy-arthrogryposis syndrome (ORPHA:370943)
Gene: SLC35A3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
Gene: SLC35A3
Phenotype: Fetal onset (HP:0011461)
Associated disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
Gene: SLC35A3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
Gene: SLC35A3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SLC35A3-CDG; Autism spectrum disorder-epilepsy-arthrogryposis syndrome (ORPHA:370943)
Gene: SLC35A3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
Gene: SLC35A3
Phenotype: Microcephaly (HP:0000252)
Associated disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
Gene: SLC35A3
Phenotype: Microretrognathia (HP:0000308)
Associated disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
Gene: SLC35A3
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
Gene: SLC35A3
Phenotype: Hammertoe (HP:0001765)
Associated disease: SLC35A3-CDG; Autism spectrum disorder-epilepsy-arthrogryposis syndrome (ORPHA:370943)
Gene: SLC44A1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Clonus (HP:0002169)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Substantia nigra hypointensity on susceptibility-weighted imaging (HP:0033048)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Globus pallidus hypointensity on susceptibility-weighted imaging (HP:0033049)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SLC44A1
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE (OMIM:618868)
Gene: SF3B1
Phenotype: Zonular cataract (HP:0010920)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Chronic infection (HP:0031035)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Ciliary body melanoma (HP:0012055)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Choroidal melanoma (HP:0012054)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Dysplastic granulopoesis (HP:0012136)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Abnormal number of granulocyte precursors (HP:0012137)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Abnormal megakaryocyte morphology (HP:0012143)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Gene: SF3B1
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Megaloblastic erythroid hyperplasia (HP:0200143)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Refractory anemia with ringed sideroblasts (HP:0004828)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Ocular pain (HP:0200026)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Abnormal fundus morphology (HP:0001098)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Inferior lens subluxation (HP:0008494)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Increased megakaryocyte count (HP:0005513)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Hypochromic anemia (HP:0001931)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Decreased total granulocyte count (HP:0001913)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Mydriasis (HP:0011499)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Hyposegmentation of neutrophil nuclei (HP:0011447)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Photopsia (HP:0030786)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Iris melanoma (HP:0011524)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Abnormal visual accommodation (HP:0030800)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Pallor (HP:0000980)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Gene: SF3B1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Visual loss (HP:0000572)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: SF3B1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: SF3B1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: RARS; Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Gene: ABCA5
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA (OMIM:135400)
Gene: ABCA5
Phenotype: Seizure (HP:0001250)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ABCA5
Phenotype: Ataxia (HP:0001251)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ABCA5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA (OMIM:135400)
Gene: ABCA5
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ABCA5
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA (OMIM:135400)
Gene: ABCA5
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ABCA5
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ABCA5
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ABCA5
Phenotype: Hirsutism (HP:0001007)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ABCA5
Phenotype: Hirsutism (HP:0001007)
Associated disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA (OMIM:135400)
Gene: ABCA5
Phenotype: EEG abnormality (HP:0002353)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ABCA5
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ABCA5
Phenotype: Synophrys (HP:0000664)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ABCA5
Phenotype: Wide nasal base (HP:0012810)
Associated disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA (OMIM:135400)
Gene: ABCA5
Phenotype: Congenital, generalized hypertrichosis (HP:0004540)
Associated disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA (OMIM:135400)
Gene: ABCA5
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA (OMIM:135400)
Gene: ABCA5
Phenotype: Epicanthus (HP:0000286)
Associated disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA (OMIM:135400)
Gene: ABCA5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ABCA5
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ABCA5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA (OMIM:135400)
Gene: ABCA5
Phenotype: Bulbous nose (HP:0000414)
Associated disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA (OMIM:135400)
Gene: ABCA5
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CGHT; Hirsutism-congenital gingival hyperplasia syndrome; Congenital generalized hypertrichosis terminalis; Gingival fibromatosis-hypertrichosis syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Gene: ETHE1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Seizure (HP:0001250)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Ataxia (HP:0001251)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Ataxia (HP:0001251)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Elevated circulating thiosulfate concentration (HP:6000757)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Babinski sign (HP:0003487)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)
Gene: ETHE1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Ethylmalonic encephalopathy (ORPHA:51188)
Gene: ETHE1
Phenotype: Developmental regression (HP:0002376)
Associated disease: ENCEPHALOPATHY, ETHYLMALONIC (OMIM:602473)