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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C84632
http://purl.obolibrary.org/obo/NCIT_C84632
|
|---|---|
| Preferred Name | 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.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
Chondrodysplasia Punctata
|
| prefLabel |
Chondrodysplasia Punctata
|
| in_subset | |
| Preferred_Name |
Chondrodysplasia Punctata
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| UMLS_CUI |
C0008445
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| prefixIRI |
NCIT:C84632
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| Contributing_Source |
Cellosaurus
NICHD
|
| subClassOf | |
| code |
C84632
|
| type | |
| Semantic_Type |
Disease or Syndrome
|
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