TaoMedAI/RareMedData huggingface dataset:
Gene: PMM2
Phenotype: Olivopontocerebellar hypoplasia (HP:0006955)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Photoreceptor layer loss on macular OCT (HP:0030609)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Villous atrophy (HP:0011473)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Inverted nipples (HP:0003186)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Hyperplastic labia majora (HP:0012882)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Impaired neutrophil chemotaxis (HP:0040238)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Edema (HP:0000969)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Osteopenia (HP:0000938)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Impaired antigen-specific response (HP:0031404)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Long face (HP:0000276)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Kyphosis (HP:0002808)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: High palate (HP:0000218)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Abnormality of the amniotic fluid (HP:0001560)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Death in infancy (HP:0001522)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Abnormal liver parenchyma morphology (HP:0030146)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Macrotia (HP:0000400)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Macrotia (HP:0000400)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Pericarditis (HP:0001701)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Pericarditis (HP:0001701)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Strabismus (HP:0000486)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Pes planus (HP:0001763)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Prominent nose (HP:0000448)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Reduced thyroxin-binding globulin (HP:0012509)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Cataract (HP:0000518)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Esotropia (HP:0000565)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Esotropia (HP:0000565)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMM2
Phenotype: Myopia (HP:0000545)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ia; CDG-Ia; CDG1A; Phosphomannomutase 2 deficiency; Congenital disorder of glycosylation type Ia; CDG syndrome type Ia; PMM2-CDG; Congenital disorder of glycosylation type 1a (ORPHA:79318)
Gene: PMP2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Babinski sign (HP:0003487)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Frequent falls (HP:0002359)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Hand tremor (HP:0002378)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Early young adult onset (HP:0025708)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)
Gene: PMP2
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G (OMIM:618279)