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loading...| Preferred Name |
Rhizomelic Chondrodysplasia Punctata |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85047 |
| code |
C85047 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
| Contributing_Source |
NICHD Cellosaurus |
| DEFINITION |
An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation. |
| FULL_SYN |
Rhizomelic Chondrodysplasia Punctata Rhizomelic Dwarfism Rhizomelic Chondrodysplasia Punctata Syndrome |
| label |
Rhizomelic Chondrodysplasia Punctata |
| Preferred_Name |
Rhizomelic Chondrodysplasia Punctata |
| prefixIRI |
Thesaurus:C85047 |
| prefLabel |
Rhizomelic Chondrodysplasia Punctata |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0282529 |
| subClassOf |
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