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loading...| Preferred Name |
Hypochondroplasia |
| Synonyms |
Hypochondrodysplasia |
| ID |
http://purl.bioontology.org/ontology/MESH/C562937 |
| altLabel |
Hypochondrodysplasia |
| cui |
C0410529 |
| Has mapping qualifier | |
| HM |
D008141 D004392 D001842/Q000002 D017880 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D017880 http://purl.bioontology.org/ontology/MESH/D001842 |
| MDA |
20121105 |
| MeSH Frequency |
51 |
| MMR |
20150818 |
| notation |
C562937 |
| prefLabel |
Hypochondroplasia |
| SC |
3 |
| Scope Statement |
A hereditary autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. It resembles ACHONDROPLASIA, but is much milder and can be distinguished clinically and radiographically. Mutations in the FGFR3 gene have been identified. OMIM: 146000 |
| TERMUI |
T841717 T801862 |
| TH |
OMIM (2013) GHR (2014) |
| tui |
T019 |
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