loading...| Preferred Name | Chondrodysplasia Punctata | |
| Synonyms |
Chondrodysplasia Punctata (Stippled Epiphyses) Group Chondrodysplasia Punctata |
|
| Definitions |
A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. |
|
| 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#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus NICHD |
|
| 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 (Stippled Epiphyses) Group Chondrodysplasia Punctata |
|
| label |
Chondrodysplasia Punctata |
|
| Preferred_Name |
Chondrodysplasia Punctata |
|
| prefixIRI |
Thesaurus:C84632 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0008445 |
|
| subClassOf |