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loading...| Preferred Name |
Chondrodysplasia Punctata |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84632 |
| code |
C84632 |
| 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 |
A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. |
| FULL_SYN |
Chondrodysplasia Punctata Chondrodysplasia Punctata (Stippled Epiphyses) Group |
| label |
Chondrodysplasia Punctata |
| Preferred_Name |
Chondrodysplasia Punctata |
| prefixIRI |
Thesaurus:C84632 |
| prefLabel |
Chondrodysplasia Punctata |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0008445 |
| subClassOf |
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