loading...| Preferred Name |
Achondroplasia |
|
| Synonyms |
Achondroplasia |
|
| Definitions |
An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 |
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| ALT_DEFINITION |
An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition results in inappropriate cartilage growth plate differentiation and deficient endochondral growth, and manifests clinically with severe rhizomelic short stature. |
|
| code |
C34345 |
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| 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 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
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| Contributing_Source |
Cellosaurus NICHD |
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| DEFINITION |
An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia. |
|
| FULL_SYN |
Achondroplasia |
|
| label |
Achondroplasia |
|
| Legacy Concept Name |
Achondroplasia |
|
| Preferred_Name |
Achondroplasia |
|
| prefixIRI |
Thesaurus:C34345 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0001080 |
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| subClassOf |