ataxia-hypogonadism-choroidal dystrophy syndrome

autosomal recessive disease characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has material basis in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2

Wikidata entity: Q55781749



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q18035939 (PNPLA6) PNPLA6
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q55788864 (developmental defect during embryogenesis) developmental defect during embryogenesis
P31 instance of ... Q112193867 (class of disease) class of disease
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q179630 (syndrome) syndrome
P279 subclass of ... Q10267817 (autosomal recessive disease) autosomal recessive disease
P279 subclass of ... Q55785843 (genetic movement disorder) genetic movement disorder
P279 subclass of ... Q55785846 (rare genetic developmental defect during embryogenesis) rare genetic developmental defect during embryogenesis

External Ids
P699Disease Ontology IDDOID:0111265
P4317GARD rare disease ID944
P4229ICD-10-CMG11.8
P665KEGG IDH02140
P486MeSH descriptor IDC565850
P5270Mondo IDMONDO_0008980
P492OMIM ID215470
P492OMIM ID215470
P1550Orphanet ID1180
P2892UMLS CUIC1859093
P11430UniProt disease IDDI-04065

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