loading...| Preferred Name |
Boucher-Neuhauser syndrome |
|
| Synonyms |
BNHS |
|
| Definitions |
(BNHS) - An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. |
|
| ID |
http://identifiers.org/omim/215470 |
|
| altLabel |
BNHS |
|
| definition |
(BNHS) - An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. |
|
| id |
OMIM:215470 |
|
| notation |
OMIM:215470 |
|
| prefLabel |
Boucher-Neuhauser syndrome |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/215470 | REXO | SAME_URI | |
| http://identifiers.org/omim/215470 | RETO | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0111265 | DOID | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111265 | DOID | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/215470 | OMIM | LOOM | |
| http://identifiers.org/omim/215470 | REXO | LOOM | |
| http://identifiers.org/omim/215470 | RETO | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111265 | HHEAR | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111265 | NIFSTD | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111265 | FNS-H | LOOM |