TaoMedAI/RareMedData huggingface dataset:
Gene: PARS2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Frontal cortical atrophy (HP:0006913)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Short nose (HP:0003196)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Short chin (HP:0000331)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Short philtrum (HP:0000322)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Proptosis (HP:0000520)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: PARS2
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: PARS2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Gene: MMACHC
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Macular coloboma (HP:0001116)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Severe demyelination of the white matter (HP:0007258)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Encephalopathy (HP:0001298)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Stroke (HP:0001297)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Mental deterioration (HP:0001268)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Confusion (HP:0001289)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Lethargy (HP:0001254)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Lethargy (HP:0001254)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Seizure (HP:0001250)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Seizure (HP:0001250)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Hypotonia (HP:0001252)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Hypotonia (HP:0001252)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Ataxia (HP:0001251)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Proteinuria (HP:0000093)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Tremor (HP:0001337)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Hypotension (HP:0002615)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Nephropathy (HP:0000112)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Delirium (HP:0031258)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Delirium (HP:0031258)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Vomiting (HP:0002013)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Hypothermia (HP:0002045)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Homocystinuria (HP:0002156)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Middle age onset (HP:0003596)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Infantile onset (HP:0003593)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Decreased methionine synthase activity (HP:0003524)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Developmental regression (HP:0002376)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Memory impairment (HP:0002354)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Hypomethioninemia (HP:0003658)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Hypomethioninemia (HP:0003658)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Neonatal onset (HP:0003623)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Nystagmus (HP:0000639)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Nystagmus (HP:0000639)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Dehydration (HP:0001944)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Thromboembolism (HP:0001907)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)
Gene: MMACHC
Phenotype: Thromboembolism (HP:0001907)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: MMACHC
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMACHC
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CblC defect; Cobalamin C defect; Methylmalonic acidemia with homocystinuria, type cblC; Methylmalonic aciduria with homocystinuria, type cblC; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC (ORPHA:79282)