Online Mendelian Inheritance in Man - CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
Synonyms	CMDR
ID	http://purl.bioontology.org/ontology/OMIM/218400
altLabel	CMDR
cui	C2931244
Gene Locus	5q22.31
Gene Symbol	CMDR EKVP3 HSS ODOD SDTY3 GJA1 ODDD CX43
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU013679 http://purl.bioontology.org/ontology/OMIM/MTHU013672 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU013674 http://purl.bioontology.org/ontology/OMIM/MTHU013678 http://purl.bioontology.org/ontology/OMIM/MTHU013675 http://purl.bioontology.org/ontology/OMIM/MTHU001946 http://purl.bioontology.org/ontology/OMIM/MTHU013670 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU004559 http://purl.bioontology.org/ontology/OMIM/MTHU013676 http://purl.bioontology.org/ontology/OMIM/MTHU002958 http://purl.bioontology.org/ontology/OMIM/MTHU006060 http://purl.bioontology.org/ontology/OMIM/MTHU003644 http://purl.bioontology.org/ontology/OMIM/MTHU013673 http://purl.bioontology.org/ontology/OMIM/MTHU013681 http://purl.bioontology.org/ontology/OMIM/MTHU009818 http://purl.bioontology.org/ontology/OMIM/MTHU013671 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU000324 http://purl.bioontology.org/ontology/OMIM/MTHU001181 http://purl.bioontology.org/ontology/OMIM/MTHU036649 http://purl.bioontology.org/ontology/OMIM/MTHU013680 http://purl.bioontology.org/ontology/OMIM/MTHU013677 http://purl.bioontology.org/ontology/OMIM/MTHU013682
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	218400
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
Scope Statement	Caused by mutation in the gap junction protein, alpha-1 gene (GJA1, 121014.0021) [MOLECULAR BASIS] See 123000 for an autosomal dominant form due to mutation in ANKH (605145) [MISCELLANEOUS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C536570	MESH	CUI
	http://purl.obolibrary.org/obo/MONDO_0009035	EFO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0009035	MONDO	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://identifiers.org/omim/218400	RETO	LOOM