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Ontology Browser
Term:
methylmalonic aciduria and homocystinuria type cblC (DOID:0050715)
Annotations: Rat: (8) Mouse: (8) Human: (10) Chinchilla: (8) Bonobo: (8) Dog: (8) Squirrel: (8) Pig: (8) Naked Mole-rat: (8) Green Monkey: (8)
Parent Terms Term With Siblings Child Terms
acrocallosal syndrome +   
AMED syndrome  
autosomal recessive nonsyndromic deafness 1A  
autosomal-mitochondrial sensorineural deafness  
congenital intrinsic factor deficiency  
craniosynostosis 7  
dyskeratosis congenita +   
facioscapulohumeral muscular dystrophy 2  
facioscapulohumeral muscular dystrophy 3  
facioscapulohumeral muscular dystrophy 4  
hereditary coproporphyria +   
hereditary hypophosphatemic rickets with hypercalciuria  
Imerslund-Grasbeck Syndrome +   
iminoglycinuria  
Joubert syndrome 15  
Joubert syndrome 9  
long QT syndrome 1  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
methylmalonic acidemia and homocysteinemia cblX type  
methylmalonic aciduria and homocystinuria type cblC  
A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. (DO)
methylmalonic aciduria and homocystinuria type cblD  
methylmalonic aciduria and homocystinuria type cblE 
methylmalonic aciduria and homocystinuria type cblF  
methylmalonic aciduria and homocystinuria type cblG  
Methylmalonic Aciduria and Homocystinuria, cblJ Type  
ocular albinism with sensorineural deafness  
oculocutaneous albinism type IB  
Parkinson's disease 6  
pernicious anemia +   
primary pulmonary hypertension +   
proteasome-associated autoinflammatory syndrome 1  
proteosome-associated autoinflammatory syndrome 3  
retinitis pigmentosa 7  
short-rib thoracic dysplasia 7 with or without polydactyly  
spinocerebellar ataxia type 17  
Subacute Combined Degeneration  
transcobalamin II deficiency  
Usher syndrome type 1D +   
Usher syndrome type 2C  
Waardenburg syndrome type 2A  

Synonyms
Exact Synonyms: Cobalamin C deficiency ;   MAHCC ;   cobalamin-C methylmalonic acidemia and homocystinuria ;   methylmalonic acidemia and homocystinuria, cblC type ;   methylmalonic aciduria and homocystinuria, vitamin B12-responsive ;   methylmalonic aciduria with homocystinuria, cblC type ;   vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase
Narrow Synonyms: methylmalonic Acidemia with Homocystinuria ;   methylmalonic acidemia and homocystinemia ;   methylmalonic aciduria with homocystinuria, cblC type, digenic
Primary IDs: MESH:C537359
Alternate IDs: OMIM:277400
Xrefs: NCI:C142174
Definition Sources: http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 "DO" "DO"

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