Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	WOLFRAM SYNDROME 1
Synonyms	DIDMOAD WFS1 DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS WFS
ID	http://purl.bioontology.org/ontology/OMIM/222300
altLabel	DIDMOAD WFS1 DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS WFS
cui	C0043207 C4551693
Gene Locus	4p16.1
Gene Symbol	DFNA6 DFNA38 WFS WFRS WFS1 CTRCT41 WFSL DFNA14
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU012421 http://purl.bioontology.org/ontology/OMIM/MTHU013465 http://purl.bioontology.org/ontology/OMIM/MTHU013464 http://purl.bioontology.org/ontology/OMIM/MTHU005283 http://purl.bioontology.org/ontology/OMIM/MTHU007610 http://purl.bioontology.org/ontology/OMIM/MTHU036798 http://purl.bioontology.org/ontology/OMIM/MTHU036362 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU000195 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU008398 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU013463 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU037120 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU000153 http://purl.bioontology.org/ontology/OMIM/MTHU002670 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	222300
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	WOLFRAM SYNDROME 1
Scope Statement	Caused by mutation in the wolframin ER transmembrane glycoprotein gene (WFS1, 606201.0001) [MOLECULAR BASIS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/70694009	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D014929	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10078339	MEDDRA	CUI
http://purl.bioontology.org/ontology/CSP/2042-6601	CRISP	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/70694009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNMI/DB-61790	SNMI	CUI
http://purl.bioontology.org/ontology/MDRFRE/10078339	MDRFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D014929	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D014929	MESH	CUI
http://purl.bioontology.org/ontology/MDRGER/10078338	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10078338	MDRFRE	CUI
http://purl.bioontology.org/ontology/RCD/X008t	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10078339	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10078338	MEDDRA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003167	NDFRT	CUI
http://purl.bioontology.org/ontology/CSP/0977-5687	CRISP	CUI
http://purl.obolibrary.org/obo/DOID_0110629	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0110629	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0110629	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0110629	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0110629	FNS-H	LOOM
http://identifiers.org/omim/222300	REXO	LOOM
http://identifiers.org/omim/222300	GEXO	LOOM
http://identifiers.org/omim/222300	RETO	LOOM
http://purl.obolibrary.org/obo/HIO_0000028	HIO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009101	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009101	DOVES	LOOM
http://purl.obolibrary.org/obo/OMIM_222300	CCO	LOOM
http://id.nlm.nih.gov/mesh/D014929	MDM	LOOM