Regulation of Transcription Ontology

Last uploaded: December 4, 2018

Preferred Name	Craniometaphyseal dysplasia, autosomal recessive
Synonyms	CMDR
Definitions	(CMDR) - An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy.
ID	http://identifiers.org/omim/218400
altLabel	CMDR
definition	(CMDR) - An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy.
id	OMIM:218400
notation	OMIM:218400
prefLabel	Craniometaphyseal dysplasia, autosomal recessive
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

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