Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Wolfram Syndrome

Synonyms

DIDMOAD

Definitions

A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.

ID

http://purl.bioontology.org/ontology/MESH/D014929

altLabel

DIDMOAD

Syndrome, Wolfram

DIDMOAD Syndrome

DIDMOADUD

Wolfram Syndrome 1

Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness

Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0043207

C4551693

DC

1

definition

A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.

DX

19860101

HN

86

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

Machine permutation

86

Mapped from

http://purl.bioontology.org/ontology/MESH/C565631

MDA

19850311

MMR

20210630

MN

C10.597.751.418.341.186.500.750

C19.246.267.960

C11.966.075.375.750

C16.131.077.299.750

C11.640.451.451.980

C10.574.500.662.980

C16.320.290.564.980

C19.700.159.875

C16.320.400.630.980

C10.597.751.941.162.625.750

C10.292.700.225.500.980

C09.218.458.341.186.500.750

C18.452.394.750.124.960

C12.050.351.968.419.135.875

C12.200.777.419.135.875

C11.270.564.980

C12.950.419.135.875

notation

D014929

prefLabel

Wolfram Syndrome

TERMUI

T043608

T043607

T811951

T843884

T750433

T751285

T842713

TH

OMIM (2013)

NLM (1986)

NLM (2010)

GHR (2014)

ORD (2010)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D003922

http://purl.bioontology.org/ontology/MESH/D054062

http://purl.bioontology.org/ontology/MESH/D015418

http://purl.bioontology.org/ontology/MESH/D003919

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/70694009 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/222300 OMIM 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/OMIM/222300 OMIM 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.bioontology.org/ontology/OMIM/606201 OMIM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.394.750.124.960 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.777.419.135.875 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.751.418.341.186.500.750 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.966.075.375.750 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.564.980 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036605 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/70694009 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.640.451.451.980 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35133 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.751.941.162.625.750 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D014929 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.968.419.135.875 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.630.980 RH-MESH LOOM
http://purl.jp/bio/4/id/200906078669072126 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.700.159.875 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.292.700.225.500.980 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#13178 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0015753 OMIT LOOM
http://purl.obolibrary.org/obo/HIO_0000027 HIO LOOM
http://www.gamuts.net/entity#Wolfram_syndrome GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.564.980 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0018105 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018105 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018105 DOVES LOOM
urn:agi-folder:wolfram_syndrome BPT LOOM
http://www.orpha.net/ORDO/Orphanet_3463 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C09.218.458.341.186.500.750 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Wolfram_Syndrome CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.662.980 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.246.267.960 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10632 NATPRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_812 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.299.750 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10078338 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0043207 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.951 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_10632 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10632 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10632 DOID LOOM
http://purl.obolibrary.org/obo/DOID_10632 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10632 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10632 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10632 FNS-H LOOM
http://purl.obolibrary.org/obo/OGMD_0000074 OGMD LOOM
http://purl.obolibrary.org/obo/NCIT_C35133 BERO LOOM