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Ontology Browser
Term:
Methylenetetrahydrofolate Reductase Deficiency (DOID:9001648)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
homocystinuria +     
Muscle Spasticity +     
psychotic disorder +     
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Childhood-Onset Spasticity with Hyperglycinemia  
delusional disorder +  
Diaminopentanuria 
dystonia 9  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Fitzsimmons Walson Mellor Syndrome 
Gardner-Diamond Syndrome 
Hengel-Maroofian-Schols syndrome  
Homocystinuria, Pyridoxine-Responsive  
homocystinuria-megaloblastic anemia cblE type  
Koone Rizzo Elias Syndrome 
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
Methylenetetrahydrofolate Reductase Deficiency  
Methylmalonic Aciduria and Homocystinuria +   
Mthfr Deficiency, Thermolabile Type  
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
neurodevelopmental disorder with spasticity and poor growth  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS  
Opticocochleodentate Degeneration 
Powell Venencie Gordon syndrome 
schizoaffective disorder +   
schizophrenia +   
schizophreniform disorder 
Seemanova Lesny Syndrome 
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
spastic ataxia +   
spastic paraplegia with deafness 
substance-induced psychosis +   
syndromic X-linked intellectual disability Turner type  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE  
Webb-Dattani Syndrome  
X-linked intellectual disability-psychosis-macroorchidism syndrome  

Synonyms
Exact Synonyms: GENERALIZED CEREBRAL ATROPHY/HYPOPLASIA ;   HOMOCYSTEINEMIA DUE TO MTHFR DEFICIENCY ;   HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY ;   Homocystinuria due to MTHFR Deficiency
Narrow Synonyms: MTHFR DEFICIENCY MTHFR DEFICIENCY, THERMOLABILE TYPE
Primary IDs: MESH:C537357
Alternate IDs: OMIM:236250
Xrefs: NCI:C84524

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