Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
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

MIM:108720

MIM:108721

MIM:256050

definition

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

OMIM mapping confirmed by DO. [SN].

disease has location

http://purl.obolibrary.org/obo/UBERON_0001130

has_obo_namespace

disease_ontology

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].

preferred label

atelosteogenesis

prefLabel

atelosteogenesis

subClassOf

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

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

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