TaoMedAI/RareMedData huggingface dataset:
Gene: SEC61A1
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Hypertension (HP:0000822)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Abnormal circulating renin concentration (HP:0040084)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Abnormal circulating aldosterone concentration (HP:0040085)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Retrognathia (HP:0000278)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Gingivitis (HP:0000230)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Frequent Giardia lamblia infestation (HP:0005215)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Triangular face (HP:0000325)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Gene: SEC61A1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: SEC61A1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Gene: SEC61A1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Gene: TIMM22
Phenotype: Projectile vomiting (HP:0002587)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Small for gestational age (HP:0001518)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: TIMM22
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (OMIM:618851)
Gene: ALG6
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Areflexia (HP:0001284)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Seizure (HP:0001250)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Hypotonia (HP:0001252)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Ataxia (HP:0001251)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Ataxia (HP:0001251)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Macroglossia (HP:0000158)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Elevated serum transaminases during infections (HP:0008150)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Reduced protein S activity (HP:0004855)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Puberty and gonadal disorders (HP:0008373)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Reduced protein C activity (HP:0005543)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Reduced factor XI activity (HP:0001929)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Reduced factor XI activity (HP:0001929)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Reduced antithrombin antigen (HP:0040246)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Jaundice (HP:0000952)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Low-set ears (HP:0000369)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Strabismus (HP:0000486)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Gene: ALG6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Increased circulating androgen concentration (HP:0030348)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: ALG6
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: CDG1C; Congenital disorder of glycosylation type Ic; Congenital disorder of glycosylation type 1c; Glucosyltransferase 1 deficiency; ALG6-CDG; CDG syndrome type Ic; CDG-Ic; Carbohydrate deficient glycoprotein syndrome type Ic (ORPHA:79320)
Gene: DSE
Phenotype: Tapered finger (HP:0001182)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Adducted thumb (HP:0001181)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Slender finger (HP:0001238)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Gene: DSE
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DSE
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Distal arthrogryposis with peculiar facies and hydronephrosis; mcEDS; Musculocontractural EDS; Dündar syndrome; Adducted thumb-clubfoot syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural Ehlers-Danlos syndrome (ORPHA:2953)
Gene: DSE
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DSE
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)