TaoMedAI/RareMedData huggingface dataset:
Gene: ABCC8
Phenotype: Decreased circulating free fatty acid level (HP:0040299)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Apraxia (HP:0002186)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 (OMIM:256450)
Gene: ABCC8
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (OMIM:610374)
Gene: ABCC8
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: ABCC8
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Difficulty standing (HP:0003698)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Drowsiness (HP:0002329)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Drowsiness (HP:0002329)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Athetosis (HP:0002305)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: ABCC8
Phenotype: Palpitations (HP:0001962)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Dehydration (HP:0001944)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Dehydration (HP:0001944)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Dehydration (HP:0001944)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Glycosuria (HP:0003076)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Glycosuria (HP:0003076)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Glycosuria (HP:0003076)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Irritability (HP:0000737)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Agitation (HP:0000713)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Increased C-peptide level (HP:0030796)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Short nose (HP:0003196)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: ABCC8
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 (OMIM:256450)
Gene: ABCC8
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Pancreatic islet-cell hyperplasia (HP:0004510)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 (OMIM:256450)
Gene: ABCC8
Phenotype: Pallor (HP:0000980)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Overweight (HP:0025502)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Large for gestational age (HP:0001520)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 (OMIM:256450)
Gene: ABCC8
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Small for gestational age (HP:0001518)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Obesity (HP:0001513)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Ketonuria (HP:0002919)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Ketonuria (HP:0002919)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Long philtrum (HP:0000343)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Tachycardia (HP:0001649)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Strabismus (HP:0000486)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Retinopathy (HP:0000488)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Retinopathy (HP:0000488)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Weight loss (HP:0001824)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Moderate albuminuria (HP:0012594)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: SURF1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Ataxia (HP:0001251)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Proteinuria (HP:0000093)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Dystonia (HP:0001332)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Axonal loss (HP:0003447)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
Gene: SURF1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Anemia (HP:0001903)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SURF1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)