TaoMedAI/RareMedData huggingface dataset:
Gene: KCNJ11
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582)
Gene: KCNJ11
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582)
Gene: KCNJ11
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 (OMIM:601820)
Gene: KCNJ11
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: KCNJ11
Phenotype: Palpitations (HP:0001962)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Dehydration (HP:0001944)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Dehydration (HP:0001944)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Dehydration (HP:0001944)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 (OMIM:601820)
Gene: KCNJ11
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Glycosuria (HP:0003076)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Glycosuria (HP:0003076)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582)
Gene: KCNJ11
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Agitation (HP:0000713)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Childhood onset (HP:0011463)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Childhood onset (HP:0011463)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582)
Gene: KCNJ11
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Increased C-peptide level (HP:0030796)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Increased C-peptide level (HP:0030796)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Reduced C-peptide level (HP:0030795)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582)
Gene: KCNJ11
Phenotype: Reduced C-peptide level (HP:0030795)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Reduced C-peptide level (HP:0030795)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Short nose (HP:0003196)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: KCNJ11
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 (OMIM:601820)
Gene: KCNJ11
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582)
Gene: KCNJ11
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Pancreatic islet-cell hyperplasia (HP:0004510)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 (OMIM:601820)
Gene: KCNJ11
Phenotype: Abnormality of body mass index (HP:0045081)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Pallor (HP:0000980)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Nesidioblastosis (HP:0034346)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 (OMIM:601820)
Gene: KCNJ11
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Overweight (HP:0025502)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Large for gestational age (HP:0001520)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 (OMIM:601820)
Gene: KCNJ11
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Obesity (HP:0001513)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Ketonuria (HP:0002919)
Associated disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:79644)
Gene: KCNJ11
Phenotype: Ketonuria (HP:0002919)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Long philtrum (HP:0000343)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Tachycardia (HP:0001649)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: KCNJ11
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency; Dominant KATP hyperinsulinism due to Kir6.2 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency (ORPHA:276580)
Gene: KCNJ11
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Retinopathy (HP:0000488)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: KCNJ11
Phenotype: Retinopathy (HP:0000488)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Late young adult onset (HP:0025710)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (OMIM:610582)
Gene: KCNJ11
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 (OMIM:616329)
Gene: KCNJ11
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: KCNJ11
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 2 (OMIM:618856)
Gene: KCNJ11
Phenotype: Weight loss (HP:0001824)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ11
Phenotype: Moderate albuminuria (HP:0012594)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: KCNJ13
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Visual field defect (HP:0001123)
Associated disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Gene: KCNJ13
Phenotype: Visual field defect (HP:0001123)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: KCNJ13
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Motor delay (HP:0001270)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: KCNJ13
Phenotype: Wide tufts of distal phalanges (HP:0006095)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Corneal guttata (HP:0012038)
Associated disease: VITREORETINAL DEGENERATION, SNOWFLAKE TYPE (OMIM:193230)
Gene: KCNJ13
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Lens luxation (HP:0012019)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Flattened, squared-off epiphyses of tubular bones (HP:0006172)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: KCNJ13
Phenotype: Coxa valga (HP:0002673)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Gene: KCNJ13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VITREORETINAL DEGENERATION, SNOWFLAKE TYPE (OMIM:193230)
Gene: KCNJ13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNJ13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: KCNJ13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: KCNJ13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)