TaoMedAI/RareMedData huggingface dataset:
Gene: PML
Phenotype: Purpura (HP:0000979)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Petechiae (HP:0000967)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Fatigue (HP:0012378)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Oral cavity bleeding (HP:0030140)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Epistaxis (HP:0000421)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Weight loss (HP:0001824)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PML
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: PMM2
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Long fingers (HP:0100807)
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: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Areflexia (HP:0001284)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Ataxia (HP:0001251)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Ataxia (HP:0001251)
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: Intellectual disability (HP:0001249)
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: Hyporeflexia (HP:0001265)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Hyporeflexia (HP:0001265)
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: Dysarthria (HP:0001260)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Global developmental delay (HP:0001263)
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: Steatorrhea (HP:0002570)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Decreased testicular size (HP:0008734)
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: Death in childhood (HP:0003819)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Abnormal renal tubule morphology (HP:0000091)
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: Proteinuria (HP:0000093)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Proteinuria (HP:0000093)
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: Hepatic steatosis (HP:0001397)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Hepatic fibrosis (HP:0001395)
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: Anasarca (HP:0012050)
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: Hypogonadotropic hypogonadism (HP:0000044)
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: Flexion contracture (HP:0001371)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Joint hypermobility (HP:0001382)
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: Hyperreflexia (HP:0001347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Reduced tissue phosphomannomutase activity (HP:6000781)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Abnormal subcutaneous fat tissue distribution (HP:0007552)
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 subcutaneous fat tissue distribution (HP:0007552)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Tremor (HP:0001337)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Dysmetria (HP:0001310)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Dandy-Walker malformation (HP:0001305)
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: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
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: Cerebellar hypoplasia (HP:0001321)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Cerebellar hypoplasia (HP:0001321)
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: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Deep venous thrombosis (HP:0002625)
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: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Wide mouth (HP:0000154)
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: Axial hypotonia (HP:0008936)
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: Proximal tubulopathy (HP:0000114)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Nephrotic syndrome (HP:0000100)
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: Renal cyst (HP:0000107)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Kyphoscoliosis (HP:0002751)
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: Decreased circulating IgA concentration (HP:0002720)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Diarrhea (HP:0002014)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Vomiting (HP:0002013)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Vomiting (HP:0002013)
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: Intention tremor (HP:0002080)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Respiratory distress (HP:0002098)
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: Prolonged prothrombin time (HP:0008151)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Aplasia of the ovary (HP:0010463)
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: Generalized-onset seizure (HP:0002197)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Intracranial hemorrhage (HP:0002170)
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: Premature ovarian insufficiency (HP:0008209)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Reduced factor IX activity (HP:0011858)
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 skeletal morphology (HP:0011842)
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: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Enlarged cisterna magna (HP:0002280)
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: Enlarged cisterna magna (HP:0002280)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Feeding difficulties (HP:0011968)
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: Aspiration pneumonia (HP:0011951)
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: Esodeviation (HP:0020045)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Lymphedema (HP:0001004)
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: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Peripheral neuropathy (HP:0009830)
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: Neonatal onset (HP:0003623)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Multiple renal cysts (HP:0005562)
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: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Reduced antithrombin III activity (HP:0001976)
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 antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Fever (HP:0001945)
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 factor XI activity (HP:0001929)
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 factor XI activity (HP:0001929)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Gene: PMM2
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMM2
Phenotype: Abnormal facial shape (HP:0001999)
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: Decreased circulating IgG concentration (HP:0004315)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)