Medical Imaging and Diagnostic Ontology

Last uploaded: April 25, 2022
Preferred Name

atelosteogenesis
Synonyms
Definitions

An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050648

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:256050

OMIM:108720

OMIM:108721

definition

An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.

OMIM mapping confirmed by DO. [SN].

has_obo_namespace

disease_ontology

IAO_0000115

An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.

id

DOID:0050648

label

atelosteogenesis

notation

DOID:0050648

note

An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.

OMIM mapping confirmed by DO. [SN].

prefLabel

atelosteogenesis

subClassOf

http://purl.obolibrary.org/obo/DOID_2256

http://purl.obolibrary.org/obo/DOID_0060564

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