TaoMedAI/RareMedData huggingface dataset:
Gene: GPC3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: WILMS TUMOR 1 (OMIM:194070)
Gene: GPC3
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WILMS TUMOR 1 (OMIM:194070)
Gene: GPC3
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Scoliosis (HP:0002650)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Scoliosis (HP:0002650)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Abnormal uterus morphology (HP:0031105)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Narrow palate (HP:0000189)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Macroglossia (HP:0000158)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Macroglossia (HP:0000158)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Cleft palate (HP:0000175)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Cleft palate (HP:0000175)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Wide mouth (HP:0000154)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Wide mouth (HP:0000154)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: High, narrow palate (HP:0002705)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: WILMS TUMOR 1 (OMIM:194070)
Gene: GPC3
Phenotype: Renal cyst (HP:0000107)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Exaggerated median tongue furrow (HP:0002711)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Anal atresia (HP:0002023)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Dyspnea (HP:0002094)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Bundle branch block (HP:0011710)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Short 2nd finger (HP:0009536)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Six lumbar vertebrae (HP:0008416)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Reduced von Willebrand factor activity (HP:0008330)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Birth length greater than 97th percentile (HP:0003517)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Posterior helix pit (HP:0008523)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Short palm (HP:0004279)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Fever (HP:0001945)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Anemia (HP:0001903)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Polycythemia (HP:0001901)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Broad thumb (HP:0011304)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Broad thumb (HP:0011304)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Submucous cleft lip (HP:0009101)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Short ribs (HP:0000773)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Short nose (HP:0003196)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Short nose (HP:0003196)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Short greater sciatic notch (HP:0003185)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Preauricular pit (HP:0004467)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Postauricular pit (HP:0004464)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Varicocele (HP:0012871)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Short sternum (HP:0000879)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Cervical ribs (HP:0000891)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Hypertension (HP:0000822)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Pancreatic islet-cell hyperplasia (HP:0004510)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Pancreatic islet-cell hyperplasia (HP:0004510)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Short finger (HP:0009381)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Epicanthus (HP:0000286)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Epicanthus (HP:0000286)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Embryonal neoplasm (HP:0002898)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Overgrowth (HP:0001548)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)