TaoMedAI/RareMedData huggingface dataset:
Gene: NRXN1
Phenotype: Hyperventilation (HP:0002883)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: NRXN1
Phenotype: Strabismus (HP:0000486)
Associated disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Gene: GRHPR
Phenotype: Reduced hepatic glyoxylate reductase activity (HP:6000638)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Gene: GRHPR
Phenotype: Elevated urinary L-glycerate level (HP:6000670)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Gene: GRHPR
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Gene: GRHPR
Phenotype: Ureteral obstruction (HP:0006000)
Associated disease: Primary hyperoxaluria type 2; D-glycerate dehydrogenase deficiency; L-glyceric aciduria (ORPHA:93599)
Gene: GRHPR
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Gene: GRHPR
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Primary hyperoxaluria type 2; D-glycerate dehydrogenase deficiency; L-glyceric aciduria (ORPHA:93599)
Gene: GRHPR
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Primary hyperoxaluria type 2; D-glycerate dehydrogenase deficiency; L-glyceric aciduria (ORPHA:93599)
Gene: GRHPR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Gene: GRHPR
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Gene: GRHPR
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Primary hyperoxaluria type 2; D-glycerate dehydrogenase deficiency; L-glyceric aciduria (ORPHA:93599)
Gene: GRHPR
Phenotype: Abnormal circulating creatinine concentration (HP:0012100)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Gene: GRHPR
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Gene: GRHPR
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Gene: GRHPR
Phenotype: Hematuria (HP:0000790)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Gene: GRHPR
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Primary hyperoxaluria type 2; D-glycerate dehydrogenase deficiency; L-glyceric aciduria (ORPHA:93599)
Gene: GRHPR
Phenotype: Hyperoxaluria (HP:0003159)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Gene: GRHPR
Phenotype: Hyperoxaluria (HP:0003159)
Associated disease: Primary hyperoxaluria type 2; D-glycerate dehydrogenase deficiency; L-glyceric aciduria (ORPHA:93599)
Gene: GRHPR
Phenotype: Abnormality of urine calcium concentration (HP:0011280)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Gene: OTOF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 9 (OMIM:601071)
Gene: OTOF
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 9 (OMIM:601071)
Gene: OTOF
Phenotype: Absence of acoustic reflex (HP:0008529)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 9 (OMIM:601071)
Gene: OTOF
Phenotype: Absent brainstem auditory responses (HP:0004463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 9 (OMIM:601071)
Gene: OTOF
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 9 (OMIM:601071)
Gene: COG1
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Microtia (HP:0008551)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Microtia (HP:0008551)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Hypospadias (HP:0000047)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Coxa valga (HP:0002673)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Glossoptosis (HP:0000162)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Cleft palate (HP:0000175)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Atrial septal dilatation (HP:0011995)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Esodeviation (HP:0020045)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Small hand (HP:0200055)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Cholesteatoma (HP:0009797)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Anemia (HP:0001903)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Giant platelets (HP:0001902)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Short long bone (HP:0003026)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Short long bone (HP:0003026)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Shallow acetabular fossae (HP:0003182)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Rib fusion (HP:0000902)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Rib fusion (HP:0000902)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG1
Phenotype: Irregularity of vertebral bodies (HP:0004582)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Osteopenia (HP:0000938)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Congenital disorder of glycosylation type 2g; CDG-IIg; Carbohydrate deficient glycoprotein syndrome type IIg; CDG syndrome type IIg; Congenital disorder of glycosylation type IIg; CDG2G; COG1-CDG (ORPHA:263508)
Gene: COG1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG1
Phenotype: Small face (HP:0000274)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Gene: COG1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)