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loading...| Preferred Name |
Hypochondroplasia |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118697 |
| code |
C118697 |
| DEFINITION |
An autosomal dominant disorder that is often caused by a defect in fibroblast growth factor receptor 3, and characterized by short stature, micromelia, and a comparatively large head. The features are milder than those seen in achondroplasia. |
| label |
Hypochondroplasia |
| Preferred_Name |
Hypochondroplasia |
| prefixIRI |
C118697 |
| prefLabel |
Hypochondroplasia |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0410529 |
| subClassOf |
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