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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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Preferred Name | atelosteogenesis | |
Synonyms |
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Definitions |
An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. OMIM mapping confirmed by DO. [SN]. |
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ID |
http://purl.obolibrary.org/obo/DOID_0050648 |
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comment |
OMIM mapping confirmed by DO. [SN].
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database_cross_reference |
OMIM:256050 OMIM:108721 OMIM:108720
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definition |
An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. OMIM mapping confirmed by DO. [SN].
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disease has location | ||
has_obo_namespace |
disease_ontology
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id |
DOID:0050648
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label |
atelosteogenesis
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notation |
DOID:0050648
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note |
An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. OMIM mapping confirmed by DO. [SN].
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preferred label |
atelosteogenesis
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prefLabel |
atelosteogenesis
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subClassOf |
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