TaoMedAI/RareMedData huggingface dataset:
Gene: MIPEP
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Micrognathia (HP:0000347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Bulbous nose (HP:0000414)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MIPEP
Phenotype: Cataract (HP:0000518)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Gene: MITF
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MITF
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: TIETZ ALBINISM-DEAFNESS SYNDROME (OMIM:103500)
Gene: MITF
Phenotype: Nevus (HP:0003764)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MITF
Phenotype: Hypotonia (HP:0001252)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Partial albinism (HP:0007443)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
Gene: MITF
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MITF
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: TIETZ ALBINISM-DEAFNESS SYNDROME (OMIM:103500)
Gene: MITF
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Olfactory lobe agenesis (HP:0001341)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
Gene: MITF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TIETZ ALBINISM-DEAFNESS SYNDROME (OMIM:103500)
Gene: MITF
Phenotype: Freckling (HP:0001480)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MITF
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: Constipation (HP:0002019)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Frontal bossing (HP:0002007)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MITF
Phenotype: Congenital onset (HP:0003577)
Associated disease: TIETZ ALBINISM-DEAFNESS SYNDROME (OMIM:103500)
Gene: MITF
Phenotype: Congenital onset (HP:0003577)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Congenital onset (HP:0003577)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MITF
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MITF
Phenotype: White eyelashes (HP:0002227)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: White eyelashes (HP:0002227)
Associated disease: TIETZ ALBINISM-DEAFNESS SYNDROME (OMIM:103500)
Gene: MITF
Phenotype: White eyelashes (HP:0002227)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: White eyebrow (HP:0002226)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: White eyebrow (HP:0002226)
Associated disease: Hypopigmentation-deafness syndrome; Tietz syndrome; Hypopigmentation-hearing loss syndrome (ORPHA:42665)
Gene: MITF
Phenotype: White eyebrow (HP:0002226)
Associated disease: TIETZ ALBINISM-DEAFNESS SYNDROME (OMIM:103500)
Gene: MITF
Phenotype: White eyebrow (HP:0002226)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: White forelock (HP:0002211)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MITF
Phenotype: White forelock (HP:0002211)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: White forelock (HP:0002211)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MITF
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MITF
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Hypopigmentation-deafness syndrome; Tietz syndrome; Hypopigmentation-hearing loss syndrome (ORPHA:42665)
Gene: MITF
Phenotype: Albinism (HP:0001022)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Hypopigmentation-deafness syndrome; Tietz syndrome; Hypopigmentation-hearing loss syndrome (ORPHA:42665)
Gene: MITF
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: TIETZ ALBINISM-DEAFNESS SYNDROME (OMIM:103500)
Gene: MITF
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MITF
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Hypopigmentation-deafness syndrome; Tietz syndrome; Hypopigmentation-hearing loss syndrome (ORPHA:42665)
Gene: MITF
Phenotype: Blue irides (HP:0000635)
Associated disease: TIETZ ALBINISM-DEAFNESS SYNDROME (OMIM:103500)
Gene: MITF
Phenotype: Synophrys (HP:0000664)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: Synophrys (HP:0000664)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Decreased body weight (HP:0004325)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Short stature (HP:0004322)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MITF
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MITF
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Preauricular pit (HP:0004467)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Dry skin (HP:0000958)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MITF
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MITF
Phenotype: Macrocephaly (HP:0000256)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MITF
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MITF
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: TIETZ ALBINISM-DEAFNESS SYNDROME (OMIM:103500)
Gene: MITF
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Hypopigmentation-deafness syndrome; Tietz syndrome; Hypopigmentation-hearing loss syndrome (ORPHA:42665)
Gene: MITF
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MITF
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Micrognathia (HP:0000347)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Hypoplastic iris stroma (HP:0007990)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MITF
Phenotype: Microcornea (HP:0000482)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Retinopathy (HP:0000488)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MITF
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Gene: MITF
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Familial melanoma (ORPHA:618)
Gene: MITF
Phenotype: Cataract (HP:0000518)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Telecanthus (HP:0000506)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Telecanthus (HP:0000506)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MITF
Phenotype: Ptosis (HP:0000508)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: MITF
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: MITF
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Hypopigmentation-deafness syndrome; Tietz syndrome; Hypopigmentation-hearing loss syndrome (ORPHA:42665)
Gene: MITF
Phenotype: Shallow orbits (HP:0000586)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Coloboma (HP:0000589)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Microphthalmia (HP:0000568)
Associated disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Gene: MITF
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Waardenburg-Hirschsprung syndrome; Shah-Waardenburg syndrome; Waardenburg-Shah syndrome; WS4; Waardenburg syndrome type 4 (ORPHA:897)
Gene: ATXN3
Phenotype: Impaired horizontal smooth pursuit (HP:0001151)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Sporadic (HP:0003745)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Genetic anticipation (HP:0003743)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Ataxia (HP:0001251)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Dysarthria (HP:0001260)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Dysarthria (HP:0001260)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Spasticity (HP:0001257)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Spasticity (HP:0001257)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Spasticity (HP:0001257)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Spasticity (HP:0001257)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Spinocerebellar tract degeneration (HP:0002503)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Spinocerebellar tract degeneration (HP:0002503)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Spinocerebellar tract degeneration (HP:0002503)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Spinocerebellar tract degeneration (HP:0002503)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Dystonia (HP:0001332)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)