Human Phenotype Ontology 
Grandparent Node:
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Abnormality of eye movement (HP:0000496)help
Parent Node:
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Abnormal conjugate eye movement (HP:0000549)help
..Starting node
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Supranuclear gaze palsy (HP:0000605)help
Term ID: 605
Name: Supranuclear gaze palsy
Synonym: Supranuclear gaze paralysis
Definition: A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
Comments:
Reference: HP:0000605
Genes and Diseases:
 
       Child Nodes:
........expandVertical supranuclear gaze palsy (HP:0000511) help
................... HP:0025330 Downgaze palsy
................... HP:0025331 Upgaze palsy
........expandHorizontal supranuclear gaze palsy (HP:0007817) help

 Sister Nodes: 
..expandImpaired convergence (HP:0000619) help
..expandStrabismus (HP:0000486) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000605HP:0000605Supranuclear gaze palsy0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0000605HP:0000605Supranuclear gaze palsy0ACOX2 CL E G H8309120OMIM:617308Bile acid synthesis defect, congenital, 62
HP:0000605HP:0000605Supranuclear gaze palsy0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 3.3
HP:0000605HP:0000605Supranuclear gaze palsy0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0000605HP:0000605Supranuclear gaze palsy0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 274
HP:0000605HP:0000605Supranuclear gaze palsy0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0000605HP:0000605Supranuclear gaze palsy0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosis100
HP:0000605HP:0000605Supranuclear gaze palsy0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040282 - Frequent100
HP:0000605HP:0000605Supranuclear gaze palsy0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0000605HP:0000605Supranuclear gaze palsy0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040281 - Very frequent100
HP:0000605HP:0000605Supranuclear gaze palsy0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0000605HP:0000605Supranuclear gaze palsy0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0000605HP:0000605Supranuclear gaze palsy0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1HP:0040283 - Occasional56
HP:0000605HP:0000605Supranuclear gaze palsy0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional56
HP:0000605HP:0000605Supranuclear gaze palsy0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0000605HP:0000605Supranuclear gaze palsy0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional11
HP:0000605HP:0000605Supranuclear gaze palsy0DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0000605HP:0000605Supranuclear gaze palsy0DCC CL E G H16302701ORPHA:2744Horizontal gaze palsy with progressive scoliosis36
HP:0000605HP:0000605Supranuclear gaze palsy0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0000605HP:0000605Supranuclear gaze palsy0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiency82
HP:0000605HP:0000605Supranuclear gaze palsy0EIF2AK2 CL E G H56109437OMIM:619687DYSTONIA 33; DYT33
HP:0000605HP:0000605Supranuclear gaze palsy0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34.62
HP:0000605HP:0000605Supranuclear gaze palsy0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0000605HP:0000605Supranuclear gaze palsy0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0000605HP:0000605Supranuclear gaze palsy0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional105
HP:0000605HP:0000605Supranuclear gaze palsy0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0000605HP:0000605Supranuclear gaze palsy0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III
HP:0000605HP:0000605Supranuclear gaze palsy0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0000605HP:0000605Supranuclear gaze palsy0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease.
HP:0000605HP:0000605Supranuclear gaze palsy0HOXA1 CL E G H31985099OMIM:601536ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS34
HP:0000605HP:0000605Supranuclear gaze palsy0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0000605HP:0000605Supranuclear gaze palsy0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0000605HP:0000605Supranuclear gaze palsy0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0000605HP:0000605Supranuclear gaze palsy0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndrome140
HP:0000605HP:0000605Supranuclear gaze palsy0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndrome140
HP:0000605HP:0000605Supranuclear gaze palsy0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0000605HP:0000605Supranuclear gaze palsy0MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 2729
HP:0000605HP:0000605Supranuclear gaze palsy0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0000605HP:0000605Supranuclear gaze palsy0NEK9 CL E G H9175418591OMIM:614262Arthrogryposis, perthes disease, and upward gaze palsy9
HP:0000605HP:0000605Supranuclear gaze palsy0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0000605HP:0000605Supranuclear gaze palsy0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1258
HP:0000605HP:0000605Supranuclear gaze palsy0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C233
HP:0000605HP:0000605Supranuclear gaze palsy0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0000605HP:0000605Supranuclear gaze palsy0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040283 - Occasional133
HP:0000605HP:0000605Supranuclear gaze palsy0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0000605HP:0000605Supranuclear gaze palsy0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0000605HP:0000605Supranuclear gaze palsy0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0000605HP:0000605Supranuclear gaze palsy0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome464
HP:0000605HP:0000605Supranuclear gaze palsy0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0000605HP:0000605Supranuclear gaze palsy0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0000605HP:0000605Supranuclear gaze palsy0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0000605HP:0000605Supranuclear gaze palsy0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease.69
HP:0000605HP:0000605Supranuclear gaze palsy0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0000605HP:0000605Supranuclear gaze palsy0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0000605HP:0000605Supranuclear gaze palsy0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0000605HP:0000605Supranuclear gaze palsy0ROBO3 CL E G H6422113433ORPHA:2744Horizontal gaze palsy with progressive scoliosis90
HP:0000605HP:0000605Supranuclear gaze palsy0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0000605HP:0000605Supranuclear gaze palsy0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0000605HP:0000605Supranuclear gaze palsy0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0000605HP:0000605Supranuclear gaze palsy0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040282 - Frequent171
HP:0000605HP:0000605Supranuclear gaze palsy0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0000605HP:0000605Supranuclear gaze palsy0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional62
HP:0000605HP:0000605Supranuclear gaze palsy0SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset62
HP:0000605HP:0000605Supranuclear gaze palsy0SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset.9
HP:0000605HP:0000605Supranuclear gaze palsy0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000605HP:0000605Supranuclear gaze palsy0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional65
HP:0000605HP:0000605Supranuclear gaze palsy0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional20
HP:0000605HP:0000605Supranuclear gaze palsy0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome113
HP:0000605HP:0000605Supranuclear gaze palsy0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040281 - Very frequent2
HP:0000605HP:0000605Supranuclear gaze palsy0VAMP1 CL E G H684312642OMIM:108600Spastic ataxia 1, autosomal dominant.2
HP:0000605HP:0000605Supranuclear gaze palsy0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional63
HP:0000605HP:0000605Supranuclear gaze palsy0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0000605HP:0000511Vertical supranuclear gaze palsy1AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0000605HP:0000511Vertical supranuclear gaze palsy1ACOX2 CL E G H8309120OMIM:617308Bile acid synthesis defect, congenital, 6.2
HP:0000605HP:0000511Vertical supranuclear gaze palsy1AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0000605HP:0000511Vertical supranuclear gaze palsy1ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0000605HP:0000511Vertical supranuclear gaze palsy1ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosis100
HP:0000605HP:0000511Vertical supranuclear gaze palsy1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0000605HP:0000511Vertical supranuclear gaze palsy1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0000605HP:0000511Vertical supranuclear gaze palsy1CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0000605HP:0007817Horizontal supranuclear gaze palsy1DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0000605HP:0007817Horizontal supranuclear gaze palsy1DCC CL E G H16302701ORPHA:2744Horizontal gaze palsy with progressive scoliosisHP:0040281 - Very frequent36
HP:0000605HP:0000511Vertical supranuclear gaze palsy1DCTN1 CL E G H16392711OMIM:168605Perry syndrome.86
HP:0000605HP:0000511Vertical supranuclear gaze palsy1DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiency82
HP:0000605HP:0000511Vertical supranuclear gaze palsy1EIF2AK2 CL E G H56109437OMIM:619687DYSTONIA 33; DYT33
HP:0000605HP:0000511Vertical supranuclear gaze palsy1FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0000605HP:0007817Horizontal supranuclear gaze palsy1GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0000605HP:0007817Horizontal supranuclear gaze palsy1HOXA1 CL E G H31985099OMIM:601536ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS34
HP:0000605HP:0000511Vertical supranuclear gaze palsy1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0000605HP:0000511Vertical supranuclear gaze palsy1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0000605HP:0000511Vertical supranuclear gaze palsy1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0000605HP:0000511Vertical supranuclear gaze palsy1MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040281 - Very frequent140
HP:0000605HP:0000511Vertical supranuclear gaze palsy1MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040283 - Occasional140
HP:0000605HP:0000511Vertical supranuclear gaze palsy1MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 2729
HP:0000605HP:0000511Vertical supranuclear gaze palsy1NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0000605HP:0000511Vertical supranuclear gaze palsy1NEK9 CL E G H9175418591OMIM:614262Arthrogryposis, perthes disease, and upward gaze palsy9
HP:0000605HP:0000511Vertical supranuclear gaze palsy1NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0000605HP:0000511Vertical supranuclear gaze palsy1NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1.258
HP:0000605HP:0000511Vertical supranuclear gaze palsy1NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0000605HP:0000511Vertical supranuclear gaze palsy1PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0000605HP:0000511Vertical supranuclear gaze palsy1PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0000605HP:0000511Vertical supranuclear gaze palsy1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0000605HP:0000511Vertical supranuclear gaze palsy1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0000605HP:0000511Vertical supranuclear gaze palsy1POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome464
HP:0000605HP:0000511Vertical supranuclear gaze palsy1POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0000605HP:0000511Vertical supranuclear gaze palsy1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0000605HP:0000511Vertical supranuclear gaze palsy1POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0000605HP:0007817Horizontal supranuclear gaze palsy1ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 1.90
HP:0000605HP:0007817Horizontal supranuclear gaze palsy1ROBO3 CL E G H6422113433ORPHA:2744Horizontal gaze palsy with progressive scoliosisHP:0040281 - Very frequent90
HP:0000605HP:0000511Vertical supranuclear gaze palsy1SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0000605HP:0000511Vertical supranuclear gaze palsy1SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset.62
HP:0000605HP:0000511Vertical supranuclear gaze palsy1TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome113
HP:0000605HP:0000511Vertical supranuclear gaze palsy1VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0000605HP:0025331Upgaze palsy2AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0000605HP:0025331Upgaze palsy2AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0000605HP:0025331Upgaze palsy2ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0000605HP:0025331Upgaze palsy2ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0000605HP:0025331Upgaze palsy2DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0000605HP:0025331Upgaze palsy2FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040284 - Very rare33
HP:0000605HP:0025331Upgaze palsy2KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040284 - Very rare17
HP:0000605HP:0025331Upgaze palsy2NEK9 CL E G H9175418591OMIM:614262Arthrogryposis, perthes disease, and upward gaze palsy9
HP:0000605HP:0025330Downgaze palsy2PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0000605HP:0025331Upgaze palsy2PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040284 - Very rare133
HP:0000605HP:0025331Upgaze palsy2POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent464
HP:0000605HP:0025331Upgaze palsy2TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent113
HP:0000605HP:0025331Upgaze palsy2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130


Genes (52) :AASS ACOX2 ADD3 AGTPBP1 ALDH4A1 ALS2 ATP13A2 ATXN1 C9ORF72 CCDC88C CHCHD10 DCC DCTN1 DLAT EIF2AK2 ELOVL4 FA2H FTL FUS GBA1 HLA-DQB1 HOXA1 KCNC3 MAPT MTFMT NAXE NEK9 NOP56 NPC1 NPC2 PIGT PLA2G6 PLP1 POLG POLR3A POLR3B PRNP PSAP ROBO3 SIGMAR1 SPG11 SPG7 SPTLC1 SQSTM1 SYNJ1 TANGO2 TARDBP TBK1 TWNK VAMP1 VCP VPS13A

Diseases (58) :ORPHA:2203 OMIM:617308 OMIM:617008 OMIM:618276 ORPHA:79101 ORPHA:300605 ORPHA:314632 ORPHA:513436 OMIM:606693 ORPHA:306674 OMIM:617225 ORPHA:98755 OMIM:105550 ORPHA:275872 ORPHA:423275 OMIM:617542 ORPHA:2744 OMIM:168605 ORPHA:79244 OMIM:619687 OMIM:133190 ORPHA:329308 ORPHA:157846 OMIM:231000 ORPHA:2072 OMIM:123400 OMIM:601536 ORPHA:98768 ORPHA:240071 ORPHA:240103 ORPHA:240085 ORPHA:240112 OMIM:601104 OMIM:618248 OMIM:617186 OMIM:614262 OMIM:614153 OMIM:257220 OMIM:607625 ORPHA:369837 ORPHA:199351 ORPHA:35069 OMIM:612953 OMIM:312080 ORPHA:70595 OMIM:607694 ORPHA:447896 ORPHA:282166 OMIM:610539 OMIM:607313 OMIM:607259 ORPHA:99013 OMIM:617145 OMIM:615530 ORPHA:480864 ORPHA:251282 OMIM:108600 ORPHA:2388
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.