Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	craniometaphyseal dysplasia, autosomal recessive
Synonyms	autosomal recessive craniometaphyseal dysplasia craniometaphyseal dysplasia, autosomal recessive CMDR craniometaphyseal dysplasia, autosomal recessive type
Definitions	Autosomal recessive form of craniometaphyseal dysplasia.
ID	http://purl.obolibrary.org/obo/MONDO_0009035
has_exact_synonym	autosomal recessive craniometaphyseal dysplasia craniometaphyseal dysplasia, autosomal recessive
has_related_synonym	CMDR craniometaphyseal dysplasia, autosomal recessive type
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4948
label	craniometaphyseal dysplasia, autosomal recessive
prefixIRI	MONDO:0009035
prefLabel	craniometaphyseal dysplasia, autosomal recessive
textual definition	Autosomal recessive form of craniometaphyseal dysplasia.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0015465 http://purl.obolibrary.org/obo/MONDO_0006025

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009035	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009035	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009035	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009035	EFO	LOOM
http://identifiers.org/omim/218400	REXO	LOOM
http://identifiers.org/omim/218400	GEXO	LOOM
http://identifiers.org/omim/218400	RETO	LOOM
http://purl.bioontology.org/ontology/OMIM/218400	OMIM	LOOM