loading...| Preferred Name |
Hypochondroplasia |
|
| Synonyms |
Hypochondroplasia |
|
| 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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118697 |
|
| ALT_DEFINITION |
A condition phenotypically similar to, but milder than, achondroplasia that is often caused by mutations in the FGFR3 gene. |
|
| code |
C118697 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 |
|
| 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. |
|
| FULL_SYN |
Hypochondroplasia |
|
| label |
Hypochondroplasia |
|
| Preferred_Name |
Hypochondroplasia |
|
| prefixIRI |
Thesaurus:C118697 |
|
| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0410529 |
|
| subClassOf |