TaoMedAI/RareMedData huggingface dataset:
Gene: MTTP
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ABETALIPOPROTEINEMIA (OMIM:200100)
Gene: MTTP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Dysmetria (HP:0001310)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: ABETALIPOPROTEINEMIA (OMIM:200100)
Gene: MTTP
Phenotype: Hypotriglyceridemia (HP:0012153)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Myalgia (HP:0003326)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Vomiting (HP:0002013)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Steppage gait (HP:0003376)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Abetalipoproteinemia (HP:0008181)
Associated disease: ABETALIPOPROTEINEMIA (OMIM:200100)
Gene: MTTP
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Babinski sign (HP:0003487)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Decreased erythrocyte sedimentation rate (HP:0025022)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Blindness (HP:0000618)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: ABETALIPOPROTEINEMIA (OMIM:200100)
Gene: MTTP
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Anemia (HP:0001903)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Myopathy (HP:0003198)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Osteopenia (HP:0000938)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: ABETALIPOPROTEINEMIA (OMIM:200100)
Gene: MTTP
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Retinopathy (HP:0000488)
Associated disease: ABETALIPOPROTEINEMIA (OMIM:200100)
Gene: MTTP
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Pes cavus (HP:0001761)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Ptosis (HP:0000508)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Scotoma (HP:0000575)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Color vision defect (HP:0000551)
Associated disease: Homozygous familial hypobetalipoproteinemia; Abetalipoproteinemia; Bassen-Kornzweig disease (ORPHA:14)
Gene: MTTP
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: ABETALIPOPROTEINEMIA (OMIM:200100)
Gene: MTTP
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTTP
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MTR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Lethargy (HP:0001254)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Seizure (HP:0001250)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Hypotonia (HP:0001252)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Spasticity (HP:0001257)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Slender finger (HP:0001238)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Gene: MTR
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Diarrhea (HP:0002014)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Vomiting (HP:0002013)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Respiratory distress (HP:0002098)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Homocystinuria (HP:0002156)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Infantile onset (HP:0003593)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Decreased methionine synthase activity (HP:0003524)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Poor coordination (HP:0002370)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Hypomethioninemia (HP:0003658)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Nystagmus (HP:0000639)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Blindness (HP:0000618)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Gene: MTR
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Short stature (HP:0004322)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Abnormal circulating vitamin B12 concentration (HP:0040126)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Abnormal blood folate concentration (HP:0040087)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Decreased circulating methylcobalamin concentration (HP:0003223)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Gene: MTR
Phenotype: Jaundice (HP:0000952)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Microcephaly (HP:0000252)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Respiratory failure (HP:0002878)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Growth delay (HP:0001510)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Pes planus (HP:0001763)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MTR
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Gene: MT-RNR1
Phenotype: Ataxia (HP:0001251)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-RNR1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-RNR1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-RNR1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-RNR1
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-RNR1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-RNR1
Phenotype: Short stature (HP:0004322)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-RNR1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-RNR1
Phenotype: Myopathy (HP:0003198)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-RNR1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-RNR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MTRR
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Syndactyly (HP:0001159)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Hypertonia (HP:0001276)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Lethargy (HP:0001254)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Lethargy (HP:0001254)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Seizure (HP:0001250)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Seizure (HP:0001250)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Hypotonia (HP:0001252)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Hypotonia (HP:0001252)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Gene: MTRR
Phenotype: Scoliosis (HP:0002650)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)
Gene: MTRR
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE (OMIM:236270)
Gene: MTRR
Phenotype: Vomiting (HP:0002013)
Associated disease: Methylcobalamin deficiency type cblE; Functional methionine synthase deficiency type cblE (ORPHA:2169)