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Human Disease Ontology
Last uploaded:
February 5, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_0050648
http://purl.obolibrary.org/obo/DOID_0050648
|
|---|---|
| Preferred Name | atelosteogenesis |
| Definitions |
An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.
OMIM mapping confirmed by DO. [SN].
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. |
|---|---|
| label |
atelosteogenesis
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
atelosteogenesis
|
| database_cross_reference |
MIM:108720
MIM:108721
MIM:256050
|
| notation |
DOID:0050648
|
| id |
DOID:0050648
|
| has_obo_namespace |
disease_ontology
|
| disease has location | |
| subClassOf | |
| type |
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