Jump to:
loading...| Preferred Name |
Idiopathic Hypogonadotropic Hypogonadism |
| Synonyms |
HH7 |
| ID |
http://purl.bioontology.org/ontology/MESH/C562785 |
| altLabel |
HH7 Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
| cui |
C0342384 |
| HM |
D007006 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
51 |
| MMR |
20150818 |
| notation |
C562785 |
| prefLabel |
Idiopathic Hypogonadotropic Hypogonadism |
| SC |
3 |
| Scope Statement |
A hereditary autosomal recessive type of hypogonadism characterized by absent or incomplete sexual maturation by age 18 and low levels of circulating GONADOTROPINS and TESTOSTERONE and no other abnormalities of the hypothalamic-pituitary axis. Nonreproductive phenotypes, such as ANOSMIA; CLEFT PALATE, and SENSORINEURAL HEARING LOSS may also occur. Mutations in the GNRHR gene (gonadotropin-releasing hormone receptor) have been identified for HH7. OMIM: 146110 |
| TERMUI |
T000884176 T801500 T000884177 |
| TH |
OMIM (2016) OMIM (2013) |
| tui |
T047 |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/146110 | Online Mendelian Inheritance in Man | CUI |