Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	RIPPLING MUSCLE DISEASE 1
Synonyms	RMD1
ID	http://purl.bioontology.org/ontology/OMIM/600332
altLabel	RMD1
cui	C1838254
Gene Locus	1q41
Gene Symbol	RMD1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004174 http://purl.bioontology.org/ontology/OMIM/MTHU004170 http://purl.bioontology.org/ontology/OMIM/MTHU004175 http://purl.bioontology.org/ontology/OMIM/MTHU004172 http://purl.bioontology.org/ontology/OMIM/MTHU004176 http://purl.bioontology.org/ontology/OMIM/MTHU004171 http://purl.bioontology.org/ontology/OMIM/MTHU004169 http://purl.bioontology.org/ontology/OMIM/MTHU004173
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	600332
OMIM Entry Type	5
OMIM MimType Value	perc
prefLabel	RIPPLING MUSCLE DISEASE 1
Scope Statement	Genetic heterogeneity (see RMD, 606072) [MISCELLANEOUS]
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C535686	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0010868	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0070308	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0070308	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0070308	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0070308	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0070308	FNS-H	LOOM
http://purl.bioontology.org/ontology/MESH/C535686	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535686	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0010868	DOVES	LOOM