Jump to:
loading...| Preferred Name |
Short Stature, Idiopathic, Autosomal |
| Synonyms |
Growth Hormone, Insensitivity To, Partial |
| ID |
http://purl.bioontology.org/ontology/MESH/C565805 |
| altLabel |
Growth Hormone, Insensitivity To, Partial Growth Hormone Deficiency, Isolated, Partial |
| cui |
C1858656 |
| HM |
D004393 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
15 |
| MMR |
20151110 |
| notation |
C565805 |
| prefLabel |
Short Stature, Idiopathic, Autosomal |
| SC |
3 |
| Scope Statement |
A hereditary autosomal recessive conditon resulting in short stature due to mutations in the GHSR gene. OMIM: 600946.0006 |
| TERMUI |
T807418 T807416 T807415 |
| TH |
OMIM (2013) |
| tui |
T047 |
Create New Mapping