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Metadata
ID DOID:0070737
PURL http://purl.obolibrary.org/obo/DOID_0070737 Copy
Name multiple mitochondrial dysfunctions syndrome 10
Definition A multiple mitochondrial dysfunctions syndrome characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, respiratory insufficiency and central nervous symptoms, including learning difficulties and neurobehavioral comorbidities, that has_material_basis_in compound heterozygous mutation in the CIAO1 gene on chromosome 2q11.
https://pubmed.ncbi.nlm.nih.gov/38950322/
Xrefs

GARD:0027319

MIM:620960

ORDO:727296

UMLS_CUI:C5975413
SKOS

exactMatch UMLS_CUI:C5975413

exactMatch ORDO:727296

exactMatch MIM:620960

exactMatch GARD:0027319
Subsets

DO_rare_slim
Synonyms

MMDS10 [EXACT]
Parent Relationships

is_a multiple mitochondrial dysfunctions syndrome

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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