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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345
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|---|---|
| Preferred Name | 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.
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| Synonyms |
Achondroplasia
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Achondroplasia
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|---|---|
| Legacy Concept Name |
Achondroplasia
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| Preferred_Name |
Achondroplasia
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| Semantic_Type |
Disease or Syndrome
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| prefixIRI |
Thesaurus:C34345
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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.
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| UMLS_CUI |
C0001080
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| code |
C34345
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| subClassOf | |
| type | |
| FULL_SYN |
Achondroplasia
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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.
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| Contributing_Source |
Cellosaurus
NICHD
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| Concept_In_Subset |
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