Mondo Disease Ontology - atelosteogenesis type I - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0007167 http://purl.obolibrary.org/obo/MONDO_0007167
Preferred Name	atelosteogenesis type I
Definitions	Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
Synonyms	spondylohumerofemoral hypoplasia atelosteogenesis, type I atelosteogenesis, type 1 AOI giant cell chondrodysplasia atelosteogenesis type 1 AO1 spondylo-humero-femoral dysplasia
Type	http://www.w3.org/2002/07/owl#Class

definition	Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
label	atelosteogenesis type I
prefLabel	atelosteogenesis type I
database_cross_reference	GARD:9287 MEDGEN:82701 UMLS:C0265283 OMIM:108720 Orphanet:1190 MESH:C535396 SCTID:725141006 icd11.foundation:449799342 See more See less
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4948
notation	MONDO:0007167
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare See more See less
has_related_synonym	spondylohumerofemoral hypoplasia atelosteogenesis, type I atelosteogenesis, type 1
id	MONDO:0007167
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0019700
skos_exactMatch	http://identifiers.org/snomedct/725141006 http://identifiers.org/medgen/82701 http://linkedlifedata.com/resource/umls/id/C0265283 https://omim.org/entry/108720 http://purl.obolibrary.org/obo/Orphanet_1190 http://identifiers.org/mesh/C535396 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/449799342 See more See less
subClassOf	http://purl.obolibrary.org/obo/MONDO_0000389 http://purl.obolibrary.org/obo/MONDO_0019690
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	AOI giant cell chondrodysplasia atelosteogenesis type 1 AO1 spondylo-humero-femoral dysplasia
treeView	http://purl.obolibrary.org/obo/MONDO_0000389 http://purl.obolibrary.org/obo/MONDO_0019690

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