loading...| Preferred Name | Hypochondroplasia | |
| Synonyms |
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| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C118697 |
|
| ALT_DEFINITION |
A condition phenotypically similar to, but milder than, achondroplasia that is often caused by mutations in the FGFR3 gene. |
|
| code |
C118697 |
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| Contributing_Source |
Cellosaurus NICHD |
|
| 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. |
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
|
| label |
Hypochondroplasia |
|
| Preferred_Name |
Hypochondroplasia |
|
| prefixIRI |
NCIT:C118697 |
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| prefLabel |
Hypochondroplasia |
|
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0410529 |
|
| subClassOf |