Human Disease Ontology

Last uploaded: November 27, 2024
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Preferred Name

Emery-Dreifuss muscular dystrophy
Synonyms

EDMD
Definitions

A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. Xref MGI. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_11726
comment

Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference

MIM:PS310300

MESH:D020389

SNOMEDCT_US_2023_03_01:129620000

UMLS_CUI:C0410189

GARD:6329

NCI:C84685

ORDO:261
definition

A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
has exact synonym

EDMD
has_obo_namespace

disease_ontology
id

DOID:11726
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

Emery-Dreifuss muscular dystrophy
notation

DOID:11726
prefLabel

Emery-Dreifuss muscular dystrophy
subClassOf

http://purl.obolibrary.org/obo/DOID_9884
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_11726 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_11726 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_11726 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_11726 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_11726 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_11726 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_11726 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016830 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_11726 DTO LOOM
http://purl.obolibrary.org/obo/DOID_11726 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11726 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_11726 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_11726 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_11726 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_11726 FNS-H LOOM
http://www.ebi.ac.uk/efo/EFO_0000463 CLO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Emery-Dreifuss_Muscular_Dystrophy CSEO LOOM
http://purl.bioontology.org/ontology/RCTV2/F391A00 RCTV2 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081544 MEDDRA LOOM
http://nanbyodata.jp/ontology/NANDO_2200857 NANDO LOOM
rgo:27394 GAMUTS LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11726 NATPRO LOOM
http://nanbyodata.jp/ontology/NANDO_1200492 NANDO LOOM
http://purl.obolibrary.org/obo/NCIT_C84685 BERO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/111508004 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MONDO_0016830 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016830 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016830 DOVES LOOM
http://purl.bioontology.org/ontology/RCD/X708i RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84685 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_59 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_261 ORDO LOOM
http://www.gamuts.net/entity#Emery_Dreifuss_muscular_dystrophy GAMUTS REST
http://www.gamuts.net/entity#Emery_Dreifuss_muscular_dystrophy GAMUTS REST