TaoMedAI/RareMedData huggingface dataset:
Gene: GLA
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Elevated circulating globotriaosylceramide concentration (HP:0033595)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Elevated circulating globotriaosylceramide concentration (HP:0033595)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Decreased alpha-galactosidase A activity (HP:0034864)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Decreased alpha-galactosidase A activity (HP:0034864)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Stroke (HP:0001297)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Seizure (HP:0001250)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Seizure (HP:0001250)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Achalasia (HP:0002571)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Acroparesthesia (HP:0031006)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Abnormal renal tubule morphology (HP:0000091)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Proteinuria (HP:0000093)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Proteinuria (HP:0000093)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Arthritis (HP:0001369)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Cornea verticillata (HP:0500008)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Nephropathy (HP:0000112)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Lipiduria (HP:0032567)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Urinary mulberry cells (HP:0032568)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Malabsorption (HP:0002024)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Nausea (HP:0002018)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Abdominal pain (HP:0002027)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Myalgia (HP:0003326)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Diarrhea (HP:0002014)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Vomiting (HP:0002013)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Emphysema (HP:0002097)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Dyspnea (HP:0002094)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Muscle spasm (HP:0003394)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Anorexia (HP:0002039)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Paresthesia (HP:0003401)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Fasciculations (HP:0002380)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Developmental regression (HP:0002376)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Angiokeratoma (HP:0001014)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Angiokeratoma (HP:0001014)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Lymphedema (HP:0001004)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Lymphedema (HP:0001004)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Vertigo (HP:0002321)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Angiokeratoma corporis diffusum (HP:0001071)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Fever (HP:0001945)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Anemia (HP:0001903)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Anemia (HP:0001903)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Short stature (HP:0004322)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Abnormal glycosphingolipid metabolism (HP:0004343)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Anxiety (HP:0000739)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Tenesmus (HP:0012702)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Depression (HP:0000716)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Hematuria (HP:0000790)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Hypertension (HP:0000822)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Hypertension (HP:0000822)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Delayed puberty (HP:0000823)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Arthralgia (HP:0002829)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Fatigue (HP:0012378)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Airway obstruction (HP:0006536)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Tinnitus (HP:0000360)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Angina pectoris (HP:0001681)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Abnormal myocardium morphology (HP:0001637)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: FABRY DISEASE (OMIM:301500)
Gene: GLA
Phenotype: Cataract (HP:0000518)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GLA
Phenotype: Chronic pain (HP:0012532)
Associated disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Gene: GPC3
Phenotype: Broad palm (HP:0001169)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Postaxial hand polydactyly (HP:0001162)
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 hand polydactyly (HP:0001162)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Anterior creases of earlobe (HP:0009908)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Agenesis of corpus callosum (HP:0001274)
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: Agenesis of corpus callosum (HP:0001274)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Motor delay (HP:0001270)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Supernumerary nipple (HP:0002558)
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: Supernumerary nipple (HP:0002558)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Finger syndactyly (HP:0006101)
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: Hypoplasia of penis (HP:0008736)
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: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Tall stature (HP:0000098)
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: Tall stature (HP:0000098)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Ureteral duplication (HP:0000073)
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: Hydroureter (HP:0000072)
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 hip dislocation (HP:0001374)
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: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Hypospadias (HP:0000047)
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: Hypospadias (HP:0000047)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Hypospadias (HP:0000047)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Inguinal hernia (HP:0000023)
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: Inguinal hernia (HP:0000023)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Malaise (HP:0033834)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Cryptorchidism (HP:0000028)
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: Cryptorchidism (HP:0000028)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Two carpal ossification centers present at birth (HP:0006176)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Neoplasm (HP:0002664)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Neoplasm (HP:0002664)
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: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)