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Term:
combined oxidative phosphorylation deficiency 6 (DOID:0111502)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
Alpers-Huttenlocher syndrome +   
Barth syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
CD40 ligand deficiency +   
Charcot-Marie-Tooth disease X-linked recessive 2 
Charcot-Marie-Tooth disease X-linked recessive 3 
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
CK syndrome  
combined oxidative phosphorylation deficiency 1  
combined oxidative phosphorylation deficiency 10  
combined oxidative phosphorylation deficiency 11  
combined oxidative phosphorylation deficiency 12  
combined oxidative phosphorylation deficiency 13  
combined oxidative phosphorylation deficiency 14  
combined oxidative phosphorylation deficiency 15  
combined oxidative phosphorylation deficiency 16  
combined oxidative phosphorylation deficiency 17  
combined oxidative phosphorylation deficiency 18  
combined oxidative phosphorylation deficiency 19  
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 20  
combined oxidative phosphorylation deficiency 21  
combined oxidative phosphorylation deficiency 22  
combined oxidative phosphorylation deficiency 23  
combined oxidative phosphorylation deficiency 24  
combined oxidative phosphorylation deficiency 25  
combined oxidative phosphorylation deficiency 26  
combined oxidative phosphorylation deficiency 27  
combined oxidative phosphorylation deficiency 28  
combined oxidative phosphorylation deficiency 29  
combined oxidative phosphorylation deficiency 3  
combined oxidative phosphorylation deficiency 30  
combined oxidative phosphorylation deficiency 31  
combined oxidative phosphorylation deficiency 32  
combined oxidative phosphorylation deficiency 33  
combined oxidative phosphorylation deficiency 34  
combined oxidative phosphorylation deficiency 35  
combined oxidative phosphorylation deficiency 36  
combined oxidative phosphorylation deficiency 37  
combined oxidative phosphorylation deficiency 38  
combined oxidative phosphorylation deficiency 39  
combined oxidative phosphorylation deficiency 4  
Combined Oxidative Phosphorylation Deficiency 40  
Combined Oxidative Phosphorylation Deficiency 41  
Combined Oxidative Phosphorylation Deficiency 42  
Combined Oxidative Phosphorylation Deficiency 43  
Combined Oxidative Phosphorylation Deficiency 44  
Combined Oxidative Phosphorylation Deficiency 45  
Combined Oxidative Phosphorylation Deficiency 46  
Combined Oxidative Phosphorylation Deficiency 47  
combined oxidative phosphorylation deficiency 5  
combined oxidative phosphorylation deficiency 6  
A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in AIFM1 on chromosome Xq26.1. (DO)
combined oxidative phosphorylation deficiency 7  
combined oxidative phosphorylation deficiency 8  
combined oxidative phosphorylation deficiency 9  
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
congenital nongoitrous hypothyroidism 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Dent disease +   
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
Duchenne muscular dystrophy +   
ectodermal dysplasia 1 +   
factor VIII deficiency +   
Fanconi anemia complementation group B  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency +   
FG syndrome +   
frontometaphyseal dysplasia 1  
Galloway-Mowat syndrome 2  
glycogen storage disease IXa  
glycogen storage disease IXd  
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
Hyperglycinemia, Lactic Acidosis, and Seizures  
hypogonadotropic hypogonadism 1 with or without anosmia  
ichthyosis follicularis-alopecia-photophobia syndrome  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Keipert syndrome  
Kennedy's disease  
Lesch-Nyhan syndrome +   
MASA syndrome  
megalocornea +   
MEHMO syndrome  
MELAS syndrome +   
MEND syndrome  
MERRF Syndrome +   
methylmalonic acidemia and homocysteinemia cblX type  
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
mitochondrial complex V (ATP synthase) deficiency nuclear type 2  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 14  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 8A  
Mitochondrial Encephalopathy  
Mullegama-Klein-Martinez syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Norrie disease  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Opitz GBBB syndrome type I  
osteogenesis imperfecta type 19  
Paganini-Miozzo syndrome  
Partington syndrome  
Pelizaeus-Merzbacher disease +   
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
Prieto syndrome 
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
severe congenital encephalopathy due to MECP2 mutation  
Shukla-Vernon syndrome  
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
spondyloepiphyseal dysplasia tarda +   
syndactyly type 8  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
Van Esch-O'Driscoll syndrome  
Waisman syndrome  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked Aarskog syndrome  
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked chronic idiopathic intestinal pseudo-obstruction  
X-linked cone-rod dystrophy 3  
X-linked congenital hemolytic anemia  
X-linked deafness 5  
X-linked distal spinal muscular atrophy 3  
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-linked hyper IgM syndrome  
X-linked ichthyosis +   
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked intellectual developmental disorder 108  
X-linked juvenile retinoschisis 1  
X-linked keratosis follicularis spinulosa decalvans  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques  
X-linked myopathy with excessive autophagy  
X-linked nephrolithiasis type I  
X-linked properdin deficiency  
X-linked recessive hypophosphatemic rickets  
X-linked severe combined immunodeficiency  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  
X-linked spinal muscular atrophy 2  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 5 
X-linked thrombocytopenia with beta-thalassemia  
X-linked VACTERL association  

Synonyms
Exact Synonyms: COXPD6 ;   X-linked mitochondrial encephalomyopathy ;   mitochondrial encephalomyopathy due to COXPD6 ;   mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 ;   severe X-linked mitochondrial encephalomyopathy
Primary IDs: OMIM:300816
Xrefs: ORDO:238329
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/20362274 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.