JSON

LAMA2-related muscular dystrophy

Go to external page http://purl.obolibrary.org/obo/MONDO_0100228

Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene. [ http://www.ncbi.nlm.nih.gov/pubmed/30055037 https://clinicalgenome.org/affiliation/40031/ ]

Synonyms: LAMA2-related muscular dystrophy

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1826054 (MONDO:equivalentTo)
  • UMLS:C5679788 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, matrix_included, matrix_llm__tag_existing_treatment_other, clingen, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_musculoskeletal_system_disorder, harrisons_view_hereditary_disease, harrisons_view_nervous_system_disorder

ClinGen label
LAMA2-related muscular dystrophy

contributor

https://orcid.org/0000-0002-4142-7153

https://orcid.org/0000-0003-2955-4640

creator

https://orcid.org/0000-0001-5208-3432

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0100228

exactMatch

http://identifiers.org/medgen/1826054

http://linkedlifedata.com/resource/umls/id/C5679788

id

MONDO:0100228