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loading...| Preferred Name |
Pseudoachondroplasia |
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| Synonyms |
Pseudoachondroplasia |
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| Definitions |
A rare, autosomal dominant inherited disorder caused by mutations in the COMP gene. It is characterized by short stature, short arms and legs, waddling walk, osteoarthritis, and limited range of motion at the elbows and hips. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118635 |
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| code |
C118635 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
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| DEFINITION |
A rare, autosomal dominant inherited disorder caused by mutations in the COMP gene. It is characterized by short stature, short arms and legs, waddling walk, osteoarthritis, and limited range of motion at the elbows and hips. |
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| FULL_SYN |
Pseudoachondroplasia |
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| label |
Pseudoachondroplasia |
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| Preferred_Name |
Pseudoachondroplasia |
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| prefixIRI |
Thesaurus:C118635 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0410538 |
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| subClassOf |
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