loading...| Preferred Name |
Boucher-Neuhauser syndrome |
|
| Synonyms |
ataxia-hypogonadism-choroidal dystrophy syndrome |
|
| Definitions |
A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0111265 |
|
| database_cross_reference |
UMLS_CUI:C1859093 SNOMEDCT_US_2023_03_01:715984007 MESH:C565850 OMIM:215470 GARD:944 ORDO:1180 |
|
| definition |
A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. |
|
| has exact synonym |
ataxia-hypogonadism-choroidal dystrophy syndrome |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111265 |
|
| in_subset | ||
| label |
Boucher-Neuhauser syndrome |
|
| notation |
DOID:0111265 |
|
| prefLabel |
Boucher-Neuhauser syndrome |
|
| subClassOf |