Online Mendelian Inheritance in Man - OHDO SYNDROME, X-LINKED - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	OHDO SYNDROME, X-LINKED
Synonyms	OHDOX
ID	http://purl.bioontology.org/ontology/OMIM/300895
altLabel	OHDOX BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE
cui	C3698541
Gene Locus	Xq13
Gene Symbol	OKS TNRC11 HDKR TRAP230 KIAA0192 HOPA MED12 FGS1 OHDOX
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004156 http://purl.bioontology.org/ontology/OMIM/MTHU071467 http://purl.bioontology.org/ontology/OMIM/MTHU003188 http://purl.bioontology.org/ontology/OMIM/MTHU036377 http://purl.bioontology.org/ontology/OMIM/MTHU000068 http://purl.bioontology.org/ontology/OMIM/MTHU006809 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU002106 http://purl.bioontology.org/ontology/OMIM/MTHU001061 http://purl.bioontology.org/ontology/OMIM/MTHU072468 http://purl.bioontology.org/ontology/OMIM/MTHU004559 http://purl.bioontology.org/ontology/OMIM/MTHU005530 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU036361 http://purl.bioontology.org/ontology/OMIM/MTHU072467 http://purl.bioontology.org/ontology/OMIM/MTHU001788 http://purl.bioontology.org/ontology/OMIM/MTHU001626 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU013759 http://purl.bioontology.org/ontology/OMIM/MTHU012071 http://purl.bioontology.org/ontology/OMIM/MTHU020600 http://purl.bioontology.org/ontology/OMIM/MTHU002823 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU004112 http://purl.bioontology.org/ontology/OMIM/MTHU011669 http://purl.bioontology.org/ontology/OMIM/MTHU000066
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300895
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	OHDO SYNDROME, X-LINKED
Scope Statement	Caused by mutation in the mediator complex subunit 12 gene (MED12, 300188.0003) [MOLECULAR BASIS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/SCTSPA/699297004	SCTSPA	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/699297004	SNOMEDCT	CUI
	http://identifiers.org/omim/300895	REXO	LOOM
	http://identifiers.org/omim/300895	GEXO	LOOM
	http://identifiers.org/omim/300895	RETO	LOOM