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Wolfram syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018105

Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2). [ Orphanet:3463 ]

Synonyms: diabetes mellitus and insipidus with optic atrophy and deafness Wolfram syndrome diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome WFS diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome DIDMOAD syndrome DIDMOAD

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:21923 (MONDO:equivalentTo)
  • Orphanet:3463 (MONDO:equivalentTo)
  • GARD:7898 (MONDO:GARD)
  • MESH:D014929 (Orphanet:3463/e)
  • ICD9:250.80 (MONDO:relatedTo)
  • SCTID:70694009 (MONDO:equivalentTo)
  • NCIT:C35133 (MONDO:equivalentTo)
  • UMLS:C0043207 (MONDO:equivalentTo)
  • DOID:10632 (MONDO:equivalentTo)
  • NANDO:1200757 (https://orcid.org/0000-0003-0011-764X)
  • icd11.foundation:151381747 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, matrix_llm__tag_existing_treatment_other, matrix_included, clingen, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_syndromic_disease, orphanet_rare, mondo_top_grouping_syndromic_disease

abbreviation
DIDMOAD [ NCIT:C35133 ]

ClinGen label
Wolfram syndrome [ NCIT:C35133 Orphanet:3463 DOID:10632 icd11.foundation:151381747 ]

abbreviation
WFS [ DOID:10632 ]

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0018105

exactMatch

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/151381747

http://linkedlifedata.com/resource/umls/id/C0043207

http://identifiers.org/mesh/D014929

http://purl.obolibrary.org/obo/DOID_10632

http://www.orpha.net/ORDO/Orphanet_3463

http://purl.obolibrary.org/obo/NCIT_C35133

http://identifiers.org/snomedct/70694009

http://identifiers.org/medgen/21923

id

MONDO:0018105