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myotonic dystrophy type 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0011266

Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders. [ Orphanet:606 ]

Synonyms: myotonic dystrophy type 2 proximal myotonic myopathy myotonic dystrophy caused by mutation in CNBP ricker disease proximal myotonic dystrophy CNBP myotonic dystrophy ricker syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C122790 (MONDO:relatedTo)
  • Orphanet:606 (OMIM:602668)
  • UMLS:C2931689 (MONDO:equivalentTo)
  • icd11.foundation:1005849639 (MONDO:equivalentTo)
  • GARD:9728 (MONDO:GARD)
  • ICD9:359.2 (DOID:0050759)
  • SCTID:41574007 (MONDO:relatedTo)
  • DOID:0050759 (MONDO:equivalentTo)
  • NCIT:C84680 (MONDO:equivalentTo)
  • OMIM:602668 (Orphanet:606/e)
  • MEDGEN:419137 (MONDO:equivalentTo)
  • NCIT:C122789 (MONDO:relatedTo)
Subsets

matrix_llm__is_cancer_other, ordo_disorder, gard_rare, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, nord_rare, rare, harrisons_view_musculoskeletal_system_disorder, orphanet_rare, mondo_top_grouping_syndromic_disease, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease

abbreviation
DM2 [ MONDO:Lexical ]

abbreviation
PROMM [ GARD:0009728 ]

comment

This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)

exactMatch

http://purl.obolibrary.org/obo/DOID_0050759

http://purl.obolibrary.org/obo/NCIT_C84680

http://linkedlifedata.com/resource/umls/id/C2931689

https://omim.org/entry/602668

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1005849639

http://www.orpha.net/ORDO/Orphanet_606

http://identifiers.org/medgen/419137

has related synonym

PROMM

dystrophia myotonica 2

dystrophia myotonica type 2

myotonic myopathy, proximal

DM2

myotonic dystrophy 2

id

MONDO:0011266

seeAlso

https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2