Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Atelosteogenesis, type 1
Synonyms	Atelosteogenesis, Type I Spondylohumerofemoral hypoplasia Atelosteogenesis Type I Giant cell chondrodysplasia Atelosteogenesis Type 1
ID	http://purl.bioontology.org/ontology/MESH/C535396
altLabel	Atelosteogenesis, Type I Spondylohumerofemoral hypoplasia Atelosteogenesis Type I Giant cell chondrodysplasia Atelosteogenesis Type 1
cui	C0265283
HM	D010009
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D010009
MDA	20100825
MeSH Frequency	6
MMR	20131024
notation	C535396
prefLabel	Atelosteogenesis, type 1
SC	3
TERMUI	T840949 T800877 T735913 T735916 T735915 T840950
TH	OMIM (2013) GHR (2014) ORD (2010)
tui	T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/603381	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/X789g	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/725141006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/725141006	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/Xa0pE	RCD	CUI
http://purl.bioontology.org/ontology/OMIM/108720	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/X789g	RCD	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/725141006	SNOMEDCT	LOOM
rgo:29076	GAMUTS	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535396	RH-MESH	LOOM
http://purl.org/skeletome/bonedysplasia#Atelosteogenesis_type_1	BDO	LOOM