Search Ontology:
Human Disease

multiple mitochondrial dysfunctions syndrome 9B

Term ID
DOID:0070736
Synonyms
  • MMDS9B
Definition
A multiple mitochondrial dysfunctions syndrome characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25. https://pubmed.ncbi.nlm.nih.gov/37046037/
References
  • GARD:0027208
  • MIM:620887
  • ORDO:543470
  • SNOMEDCT_US_2026_03_01:1222655009
  • UMLS_CUI:C5681321
  • UMLS_CUI:C5935635
Ontology
Human Disease   ( DOID:0070736 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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