TaoMedAI/RareMedData huggingface dataset:
Gene: GGCX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGCX
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGCX
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency; Pseudoxanthoma elasticum-like syndrome; PXE-like syndrome (ORPHA:91135)
Gene: GGCX
Phenotype: Reduced factor VII activity (HP:0008169)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Reduced factor VII activity (HP:0008169)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGCX
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGCX
Phenotype: Reduced factor IX activity (HP:0011858)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Reduced factor IX activity (HP:0011858)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGCX
Phenotype: Infantile onset (HP:0003593)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Reduced protein S activity (HP:0004855)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Reduced factor X activity (HP:0008321)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Reduced factor X activity (HP:0008321)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGCX
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Papule (HP:0200034)
Associated disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa; PXE-like syndrome with retinitis pigmentosa (ORPHA:436274)
Gene: GGCX
Phenotype: Papule (HP:0200034)
Associated disease: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency; Pseudoxanthoma elasticum-like syndrome; PXE-like syndrome (ORPHA:91135)
Gene: GGCX
Phenotype: Abnormal fundus morphology (HP:0001098)
Associated disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa; PXE-like syndrome with retinitis pigmentosa (ORPHA:436274)
Gene: GGCX
Phenotype: Neonatal onset (HP:0003623)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency; Pseudoxanthoma elasticum-like syndrome; PXE-like syndrome (ORPHA:91135)
Gene: GGCX
Phenotype: Reduced protein C activity (HP:0005543)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency; Pseudoxanthoma elasticum-like syndrome; PXE-like syndrome (ORPHA:91135)
Gene: GGCX
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa; PXE-like syndrome with retinitis pigmentosa (ORPHA:436274)
Gene: GGCX
Phenotype: Young adult onset (HP:0011462)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGCX
Phenotype: Short nose (HP:0003196)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa; PXE-like syndrome with retinitis pigmentosa (ORPHA:436274)
Gene: GGCX
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency; Pseudoxanthoma elasticum-like syndrome; PXE-like syndrome (ORPHA:91135)
Gene: GGCX
Phenotype: Cutis laxa (HP:0000973)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGCX
Phenotype: Retinal peau d'orange (HP:0033027)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGCX
Phenotype: Redundant skin (HP:0001582)
Associated disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa; PXE-like syndrome with retinitis pigmentosa (ORPHA:436274)
Gene: GGCX
Phenotype: Redundant skin (HP:0001582)
Associated disease: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency; Pseudoxanthoma elasticum-like syndrome; PXE-like syndrome (ORPHA:91135)
Gene: GGCX
Phenotype: Yellow papule (HP:0025507)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGCX
Phenotype: Ecchymosis (HP:0031364)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa; PXE-like syndrome with retinitis pigmentosa (ORPHA:436274)
Gene: GGCX
Phenotype: Joint hemorrhage (HP:0005261)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Absent retinal pigment epithelium (HP:0007980)
Associated disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa; PXE-like syndrome with retinitis pigmentosa (ORPHA:436274)
Gene: GGCX
Phenotype: Strabismus (HP:0000486)
Associated disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa; PXE-like syndrome with retinitis pigmentosa (ORPHA:436274)
Gene: GGCX
Phenotype: Epistaxis (HP:0000421)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Epistaxis (HP:0000421)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGCX
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa; PXE-like syndrome with retinitis pigmentosa (ORPHA:436274)
Gene: GGCX
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa; PXE-like syndrome with retinitis pigmentosa (ORPHA:436274)
Gene: GGCX
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency; Pseudoxanthoma elasticum-like syndrome; PXE-like syndrome (ORPHA:91135)
Gene: GGCX
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGT1
Phenotype: Reduced tissue gamma-glutamyltransferase activity (HP:6000578)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Tremor (HP:0001337)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Constipation (HP:0002019)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Asthma (HP:0002099)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Reduced gamma-glutamyltransferase level (HP:0034445)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Glutathionuria (HP:0034586)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Action tremor (HP:0002345)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: GGT1
Phenotype: Strabismus (HP:0000486)
Associated disease: GLUTATHIONURIA (OMIM:231950)
Gene: B4GALT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED LOW LDL AND FIBRINOGEN (OMIM:620364)
Gene: B4GALT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Floppy infant (HP:0008947)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Diarrhea (HP:0002014)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: COMBINED LOW LDL AND FIBRINOGEN (OMIM:620364)
Gene: B4GALT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: COMBINED LOW LDL AND FIBRINOGEN (OMIM:620364)
Gene: B4GALT1
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Reduced protein S activity (HP:0004855)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Reduced protein C activity (HP:0005543)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: COMBINED LOW LDL AND FIBRINOGEN (OMIM:620364)
Gene: B4GALT1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Myopathy (HP:0003198)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Edema (HP:0000969)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Gene: B4GALT1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: High myopia (HP:0011003)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Premature birth (HP:0001622)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)
Gene: B4GALT1
Phenotype: Myopia (HP:0000545)
Associated disease: CDG2D; CDG-IId; B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Congenital disorder of glycosylation type 2d; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type IId (ORPHA:79332)