Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE
Synonyms	MAFFUCCI SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/614569
altLabel	MAFFUCCI SYNDROME
cui	C0024454
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	614569
OMIM Entry Type	5
OMIM MimType Value	perc
prefLabel	MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D004687	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/46041001	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10083007	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10083007	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/46041001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D004687	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01031	SNMI	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q78.4	ICD10CM	CUI
http://purl.bioontology.org/ontology/RCD/XE1M9	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10083007	MDRGER	CUI