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ataxia-hypogonadism-choroidal dystrophy syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008980

Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. [ Orphanet:1180 ]

Term info

database cross reference
  • OMIM:215470 (Orphanet:1180/e)
  • MESH:C565850 (MONDO:equivalentTo)
  • Orphanet:1180 (OMIM:215470)
  • SCTID:715984007 (MONDO:equivalentTo)
  • DOID:0111265 (MONDO:equivalentTo)
  • GARD:0000944 (MONDO:equivalentTo)
  • UMLS:C1859093 (Orphanet:1180)
Subsets

ordo_disease

abbreviation
BNHS [ MONDO:Lexical OMIM:215470 ]

definition

Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.

exactMatch

https://omim.org/entry/215470, http://purl.obolibrary.org/obo/DOID_0111265, http://linkedlifedata.com/resource/umls/id/C1859093, http://identifiers.org/snomedct/715984007, http://purl.obolibrary.org/obo/Orphanet_1180, http://identifiers.org/mesh/C565850

has exact synonym

Boucher-Neuhäuser syndrome, spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy, BNHS, Boucher-Neuhauser syndrome, chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism, Boucher-Neuhchäuser syndrome

has related synonym

ataxia - hypogonadism - choroidal dystrophy

id

MONDO:0008980