TaoMedAI/RareMedData huggingface dataset:
Gene: HMGCL
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Nonketotic hypoglycemia (HP:0001958)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Anemia (HP:0001903)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Anemia (HP:0001903)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Organic aciduria (HP:0001992)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Elevated serum anion gap (HP:0031962)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Apathy (HP:0000741)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Apathy (HP:0000741)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Glutaric aciduria (HP:0003150)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Pallor (HP:0000980)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Pallor (HP:0000980)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Jaundice (HP:0000952)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Edema (HP:0000969)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Microcephaly (HP:0000252)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Spastic hemiparesis (HP:0011099)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Fatigue (HP:0012378)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Reye syndrome-like episodes (HP:0006582)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Lipid accumulation in hepatocytes (HP:0006561)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Ketonuria (HP:0002919)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Ketonuria (HP:0002919)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Acute pancreatitis (HP:0001735)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Weight loss (HP:0001824)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCR
Phenotype: Increased circulating troponin T concentration (HP:0410174)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Left ventricular diastolic dysfunction (HP:0025168)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Areflexia (HP:0001284)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Myalgia (HP:0003326)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Dysphagia (HP:0002015)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Type 2 muscle fiber predominance (HP:0010602)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Middle age onset (HP:0003596)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Abnormality of alkaline phosphatase level (HP:0004379)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCR
Phenotype: Reduced muscle fiber alpha dystroglycan (HP:0030099)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 (OMIM:620375)
Gene: HMGCS2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Seizure (HP:0001250)
Associated disease: HMG-CoA synthase deficiency; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (ORPHA:35701)
Gene: HMGCS2
Phenotype: Seizure (HP:0001250)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Coma (HP:0001259)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Steatorrhea (HP:0002570)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Diarrhea (HP:0002014)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Vomiting (HP:0002013)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: HMG-CoA synthase deficiency; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (ORPHA:35701)
Gene: HMGCS2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: HMG-CoA synthase deficiency; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (ORPHA:35701)
Gene: HMGCS2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Childhood onset (HP:0011463)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Increased circulating free fatty acid level (HP:0030781)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Elevated urinary 3-hydroxybutyric acid (HP:0040155)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Ketonuria (HP:0002919)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGCS2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Gene: HMGA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HMGA1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HMGA1
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HMGA1
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HMGA1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HMMR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: HMMR
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: HMMR
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: HMOX1
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Sepsis (HP:0100806)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Cervical lymphadenopathy (HP:0025289)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Proteinuria (HP:0000093)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Nephritis (HP:0000123)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Coombs-positive hemolytic anemia (HP:0004844)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Hematuria (HP:0000790)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Hypertension (HP:0000822)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Growth delay (HP:0001510)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: PULMONARY DISEASE, CHRONIC OBSTRUCTIVE (OMIM:606963)
Gene: HMOX1
Phenotype: Chemosis (HP:0012375)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)