Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Craniometaphyseal dysplasia, autosomal recessive type
Synonyms	Craniometaphyseal Dysplasia, Autosomal Recessive
ID	http://purl.bioontology.org/ontology/MESH/C536570
altLabel	Craniometaphyseal Dysplasia, Autosomal Recessive Autosomal Recessive Craniometaphyseal Dysplasia
cui	C2931244
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000002
HM	D003394 D012886/Q000002 D001921/Q000002 D003398
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D001921 http://purl.bioontology.org/ontology/MESH/D003394 http://purl.bioontology.org/ontology/MESH/D003398 http://purl.bioontology.org/ontology/MESH/D012886
MDA	20100825
MeSH Frequency	0
MMR	20150818
notation	C536570
prefLabel	Craniometaphyseal dysplasia, autosomal recessive type
SC	3
TERMUI	T739756 T841214 T807166
TH	OMIM (2013) GHR (2014) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/121014	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/218400	OMIM	CUI
http://purl.org/skeletome/bonedysplasia#Craniometaphyseal_dysplasia_autosomal_recessive_type	BDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536570	RH-MESH	LOOM