cerebellar ataxia-hypogonadism syndrome
http://purl.obolibrary.org/obo/MONDO_0008935
Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome. [ Orphanet:1173 ]
Term info
- DOID:0111587 (MONDO:equivalentTo)
- Orphanet:1173 (OMIM:212840)
- MESH:C565870 (MONDO:equivalentTo)
- OMIM:212840 (Orphanet:1173/e)
- GARD:0003314 (MONDO:equivalentTo)
- UMLS:C1859305 (Orphanet:1173)
ordo_disease
Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.
http://identifiers.org/mesh/C565870, http://linkedlifedata.com/resource/umls/id/C1859305, http://purl.obolibrary.org/obo/DOID_0111587, https://omim.org/entry/212840, http://purl.obolibrary.org/obo/Orphanet_1173
http://purl.obolibrary.org/obo/MONDO_0100309
luteinizing hormone-releasing hormone deficiency with ataxia, Gordon-Holmes syndrome
cerebellar ataxia and hypogonadotropic hypogonadism, LHRH deficiency and ataxia, luteinizing hormone-releasing hormone, deficiency of, with ataxia, cerebellar ataxia - hypogonadism, GDHS, Gordon Holmes syndrome, luteinizing hormone releasing hormone, deficiency of with ataxia
MONDO:0008935