loading...| Preferred Name |
HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA |
| Synonyms |
HH9 |
| ID |
http://purl.bioontology.org/ontology/OMIM/614838 |
| altLabel |
HH9 |
| cui |
C3553842 |
| Gene Locus |
9q34.3 |
| Gene Symbol |
NSMF HH9 NELF |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU007248 http://purl.bioontology.org/ontology/OMIM/MTHU057466 http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU006965 http://purl.bioontology.org/ontology/OMIM/MTHU057465 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU057467 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU005254 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
614838 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA |
| Scope Statement |
Based on report of 3 unrelated patients, 2 of whom also had mutations in other known hypogonadotropic hypogonadism-associated genes (FGFR1, 136350 or HS6ST1, 604846) [MISCELLANEOUS] Caused by mutation in the NMDA receptor synaptonuclear signaling and neuronal migration factor gene (NSMF, 608137.0001) [MOLECULAR BASIS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0090085 | Human Disease Ontology / 人类疾病本体 | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0013911 | Mondo Disease Ontology / Mondo疾病本体 | LOOM |