TaoMedAI/RareMedData huggingface dataset:
Gene: MMUT
Phenotype: Infantile onset (HP:0003593)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Neonatal onset (HP:0003623)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Episodic metabolic acidosis (HP:0004911)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Dehydration (HP:0001944)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Dehydration (HP:0001944)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Anemia (HP:0001903)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Anemia (HP:0001903)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Childhood onset (HP:0011463)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Abnormal circulating vitamin B12 concentration (HP:0040126)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Cerebellar hemorrhage (HP:0011695)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Growth delay (HP:0001510)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Pancreatitis (HP:0001733)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MUTYH
Phenotype: Visual field defect (HP:0001123)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Hypertonia (HP:0001276)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Seizure (HP:0001250)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Hypotonia (HP:0001252)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Dysarthria (HP:0001260)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Rectal polyposis (HP:0100896)
Associated disease: MUTYH-related attenuated familial polyposis coli; MUTYH-related attenuated FAP; MUTYH-related AFAP; MUTYH-related attenuated familial adenomatous polyposis (ORPHA:247798)
Gene: MUTYH
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Flexion contracture (HP:0001371)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MUTYH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Stomach cancer (HP:0012126)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Stomach cancer (HP:0012126)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: MUTYH
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: MUTYH
Phenotype: Congenital hypertrophy of retinal pigment epithelium (HP:0007649)
Associated disease: MUTYH-related attenuated familial polyposis coli; MUTYH-related attenuated FAP; MUTYH-related AFAP; MUTYH-related attenuated familial adenomatous polyposis (ORPHA:247798)
Gene: MUTYH
Phenotype: Abnormal circulating creatine concentration (HP:0012113)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: MUTYH
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Malabsorption (HP:0002024)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Constipation (HP:0002019)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Abdominal pain (HP:0002027)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Migraine (HP:0002076)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: MUTYH-related attenuated familial polyposis coli; MUTYH-related attenuated FAP; MUTYH-related AFAP; MUTYH-related attenuated familial adenomatous polyposis (ORPHA:247798)
Gene: MUTYH
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Dysgraphia (HP:0010526)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Paresthesia (HP:0003401)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Developmental regression (HP:0002376)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Memory impairment (HP:0002354)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Dyskinesia (HP:0100660)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: MUTYH-related attenuated familial polyposis coli; MUTYH-related attenuated FAP; MUTYH-related AFAP; MUTYH-related attenuated familial adenomatous polyposis (ORPHA:247798)
Gene: MUTYH
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MUTYH
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Hallucinations (HP:0000738)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Irritability (HP:0000737)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Anxiety (HP:0000739)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Depression (HP:0000716)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Atypical behavior (HP:0000708)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Neoplasm of the colon (HP:0100273)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Gastrointestinal desmoid tumor (HP:0100245)
Associated disease: MUTYH-related attenuated familial polyposis coli; MUTYH-related attenuated FAP; MUTYH-related AFAP; MUTYH-related attenuated familial adenomatous polyposis (ORPHA:247798)
Gene: MUTYH
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Fatigue (HP:0012378)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: MUTYH-related attenuated familial polyposis coli; MUTYH-related attenuated FAP; MUTYH-related AFAP; MUTYH-related attenuated familial adenomatous polyposis (ORPHA:247798)
Gene: MUTYH
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MUTYH
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Large intestinal polyposis (HP:0030255)
Associated disease: MUTYH-related attenuated familial polyposis coli; MUTYH-related attenuated FAP; MUTYH-related AFAP; MUTYH-related attenuated familial adenomatous polyposis (ORPHA:247798)
Gene: MUTYH
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MUTYH
Phenotype: Weight loss (HP:0001824)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MUTYH
Phenotype: Visual impairment (HP:0000505)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: MVD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POROKERATOSIS 7, MULTIPLE TYPES (OMIM:614714)
Gene: MVD
Phenotype: Parakeratosis (HP:0001036)
Associated disease: POROKERATOSIS 7, MULTIPLE TYPES (OMIM:614714)
Gene: MVD
Phenotype: Porokeratosis (HP:0200044)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: MVD
Phenotype: Porokeratosis (HP:0200044)
Associated disease: POROKERATOSIS 7, MULTIPLE TYPES (OMIM:614714)
Gene: MVD
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: MVD
Phenotype: Pruritus (HP:0000989)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: MVD
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: MVK
Phenotype: Chills (HP:0025143)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MVK
Phenotype: Increased circulating IgD concentration (HP:0410246)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Increased circulating IgD concentration (HP:0410246)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Elevated urinary D-glyceric acid level (HP:6000606)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Peritonitis (HP:0002586)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Seizure (HP:0001250)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Seizure (HP:0001250)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Hypotonia (HP:0001252)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Hypotonia (HP:0001252)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Ataxia (HP:0001251)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Ataxia (HP:0001251)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Ataxia (HP:0001251)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Dysarthria (HP:0001260)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Complete mevalonate kinase deficiency; MVA; Mevalonic aciduria (ORPHA:29)
Gene: MVK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)
Gene: MVK
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Arthritis (HP:0001369)
Associated disease: HYPER-IgD SYNDROME (OMIM:260920)
Gene: MVK
Phenotype: Arthritis (HP:0001369)
Associated disease: Partial mevalonate kinase deficiency; HIDS; Hyper-IgD syndrome; Hyperimmunoglobulinemia D with periodic fever; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome (ORPHA:343)
Gene: MVK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEVALONIC ACIDURIA (OMIM:610377)