An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. [ NCIT:C84914 ]
Synonyms: inherited myotonic dystrophy
Term information
- OMIMPS:160900 (MONDO:equivalentTo)
- NANDO:2200864 (https://orcid.org/0000-0003-0011-764X)
- SCTID:240104008 (MONDO:equivalentTo)
- MedDRA:10068871 (Orphanet:206647/e)
- icd11.foundation:192087511 (Orphanet:206647)
- NANDO:1200495 (https://orcid.org/0000-0003-0011-764X)
- GARD:10419 (MONDO:GARD)
- MEDGEN:10239 (MONDO:equivalentTo)
- UMLS:C0027126 (MONDO:equivalentTo)
- DOID:450 (MONDO:equivalentTo)
- ICD9:359.2 (DOID:450)
- MESH:D009223 (Orphanet:206647/e)
- Orphanet:206647 (MONDO:equivalentTo)
- NCIT:C84914 (MONDO:equivalentTo)
gard_rare, matrix_llm__is_cancer_other, disease_grouping, mondo_top_grouping_member, matrix_llm__txgnn_other, rare, harrisons_view_musculoskeletal_system_disorder, mondo_top_grouping_syndromic_disease, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, 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, ordo_group_of_disorders
http://purl.obolibrary.org/obo/NCIT_C84914
https://omim.org/phenotypicSeries/PS160900
http://identifiers.org/mesh/D009223
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/192087511
http://purl.obolibrary.org/obo/DOID_450
http://identifiers.org/snomedct/240104008
http://identifiers.org/medgen/10239
http://www.orpha.net/ORDO/Orphanet_206647
http://linkedlifedata.com/resource/umls/id/C0027126