MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandmitochondrial disorder due to a defect in mitochondrial protein synthesis (MONDO:0018157)
..Starting node
..expandsyndromic sensorineural deafness due to combined oxidative phosphorylation defect ()

       Child Nodes:



 Sister Nodes: 
..expandacute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ()  LSDB  L: 00110;
..expandc12orf65-related combined oxidative phosphorylation defect ()
..expandcataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ()
..expandcombined oxidative phosphorylation defect type 11 ()  LSDB  L: 00423;
..expandcombined oxidative phosphorylation defect type 13 ()  LSDB  L: 00512;
..expandcombined oxidative phosphorylation defect type 14 ()  LSDB  L: 00094;
..expandcombined oxidative phosphorylation defect type 15 ()  LSDB  L: 00095;
..expandcombined oxidative phosphorylation defect type 17 ()  LSDB  L: 00513;
..expandcombined oxidative phosphorylation defect type 2 ()  LSDB  L: 00096;
..expandcombined oxidative phosphorylation defect type 20 ()  LSDB  L: 00515;
..expandcombined oxidative phosphorylation defect type 21 ()  LSDB  L: 00501;
..expandcombined oxidative phosphorylation defect type 23 ()  LSDB  L: 00516;
..expandcombined oxidative phosphorylation defect type 24 ()  LSDB  L: 00517;
..expandcombined oxidative phosphorylation defect type 25 ()  LSDB  L: 00503;
..expandcombined oxidative phosphorylation defect type 26 ()  LSDB  L: 00518;
..expandcombined oxidative phosphorylation defect type 27 ()  LSDB  L: 00519;
..expandcombined oxidative phosphorylation defect type 30 ()  LSDB  L: 00521;
..expandcombined oxidative phosphorylation defect type 4 ()  LSDB  L: 00098;
..expandcombined oxidative phosphorylation defect type 7 ()  LSDB  L: 00493;
..expandcombined oxidative phosphorylation defect type 8 ()  LSDB  L: 00076;
..expandcombined oxidative phosphorylation defect type 9 ()  LSDB  L: 00100;
..expandfatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ()  LSDB  L: 00097;
..expandhepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ()  LSDB  L: 00092;
..expandhereditary spastic paraplegia 55 ()
..expandhereditary spastic paraplegia 7 ()  LSDB  L: 00497;
..expandhereditary spastic paraplegia 77 ()
..expandhydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome ()
..expandhyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ()
..expandhypotonia with lactic acidemia and hyperammonemia ()  LSDB  L: 00099;
..expandinfantile hypertrophic cardiomyopathy due to MRPL44 deficiency ()  LSDB  L: 00080;
..expandleukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ()  LSDB  L: 00418;
..expandleukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ()  LSDB  L: 00511;
..expandmitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ()  LSDB  L: 00093;
..expandmitochondrial myopathy and sideroblastic anemia ()
..expandneonatal severe cardiopulmonary failure due to mitochondrial methylation defect ()  LSDB  L: 00520;
..expandPerrault syndrome ()
..expandpontocerebellar hypoplasia type 6 ()  LSDB  L: 00420;
..expandsevere X-linked mitochondrial encephalomyopathy ()  LSDB  L: 00411;
..expandspastic ataxia 3 ()
..expandspastic ataxia 4 ()  LSDB  L: 00083;
..expandspinocerebellar ataxia type 28 ()  LSDB  L: 00498;
..expandsyndromic sensorineural deafness due to combined oxidative phosphorylation defect ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18706
Name:syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:syndromic sensorineural deafness due to COXPD; syndromic sensorineural hearing loss due to COXPD
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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