TaoMedAI/RareMedData huggingface dataset:
Gene: GPC4
Phenotype: Short foot (HP:0001773)
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: GPC4
Phenotype: Short foot (HP:0001773)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Broad foot (HP:0001769)
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: GPC4
Phenotype: Broad foot (HP:0001769)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Prominent nose (HP:0000448)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Wide nose (HP:0000445)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Polysplenia (HP:0001748)
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: GPC4
Phenotype: Polysplenia (HP:0001748)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Splenomegaly (HP:0001744)
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: GPC4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Talipes equinovarus (HP:0001762)
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: GPC4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Wide nasal bridge (HP:0000431)
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: GPC4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Broad toe (HP:0001837)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Ptosis (HP:0000508)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Short toe (HP:0001831)
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: GPC4
Phenotype: Absent toenail (HP:0001802)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Prominent forehead (HP:0011220)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: FGA
Phenotype: Death in childhood (HP:0003819)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Neonatal death (HP:0003811)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Proteinuria (HP:0000093)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Cholestasis (HP:0001396)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Joint swelling (HP:0001386)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGA
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Nephropathy (HP:0000112)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Abnormal umbilical stump bleeding (HP:0011884)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Infantile onset (HP:0003593)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Congenital onset (HP:0003577)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGA
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Familial hypofibrinogenemia (ORPHA:101041)
Gene: FGA
Phenotype: Adult onset (HP:0003581)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Hematemesis (HP:0002248)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGA
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Renal amyloidosis (HP:0001917)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Menometrorrhagia (HP:0400008)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGA
Phenotype: Childhood onset (HP:0011463)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Hematuria (HP:0000790)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Death in adolescence (HP:0011421)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Epidural hemorrhage (HP:0100310)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Afibrinogenemia (HP:0034287)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Hypertension (HP:0000822)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Generalized amyloid deposition (HP:0003216)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Skin rash (HP:0000988)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Edema (HP:0000969)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Splenic rupture (HP:0012223)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGA
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGA
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Familial hypofibrinogenemia (ORPHA:101041)
Gene: FGA
Phenotype: Death in infancy (HP:0001522)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Miscarriage (HP:0005268)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGA
Phenotype: Prolonged bleeding following circumcision (HP:0030137)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AMYLOIDOSIS, FAMILIAL VISCERAL (OMIM:105200)
Gene: FGA
Phenotype: Epistaxis (HP:0000421)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Epistaxis (HP:0000421)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGA
Phenotype: Epistaxis (HP:0000421)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGA
Phenotype: Epistaxis (HP:0000421)
Associated disease: Familial hypofibrinogenemia (ORPHA:101041)
Gene: FGA
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGA
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGA
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGA
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial hypofibrinogenemia (ORPHA:101041)
Gene: FGB
Phenotype: Death in childhood (HP:0003819)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Neonatal death (HP:0003811)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Joint swelling (HP:0001386)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGB
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Abnormal umbilical stump bleeding (HP:0011884)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Infantile onset (HP:0003593)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Congenital onset (HP:0003577)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGB
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Familial hypofibrinogenemia (ORPHA:101041)
Gene: FGB
Phenotype: Hematemesis (HP:0002248)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGB
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Menometrorrhagia (HP:0400008)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGB
Phenotype: Childhood onset (HP:0011463)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Death in adolescence (HP:0011421)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Epidural hemorrhage (HP:0100310)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Afibrinogenemia (HP:0034287)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Splenic rupture (HP:0012223)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGB
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGB
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Familial hypofibrinogenemia (ORPHA:101041)
Gene: FGB
Phenotype: Death in infancy (HP:0001522)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Miscarriage (HP:0005268)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGB
Phenotype: Prolonged bleeding following circumcision (HP:0030137)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Epistaxis (HP:0000421)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Epistaxis (HP:0000421)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGB
Phenotype: Epistaxis (HP:0000421)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGB
Phenotype: Epistaxis (HP:0000421)
Associated disease: Familial hypofibrinogenemia (ORPHA:101041)
Gene: FGB
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGB
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGB
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGB
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial hypofibrinogenemia (ORPHA:101041)
Gene: FGD1
Phenotype: Broad palm (HP:0001169)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Broad palm (HP:0001169)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Syndactyly (HP:0001159)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Lozenge-shaped umbilicus (HP:0032277)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Hypospadias (HP:0000047)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Cervical spine hypermobility (HP:0003318)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Curved linear dimple below the lower lip (HP:0002055)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Large earlobe (HP:0009748)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Mild short stature (HP:0003502)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Small hand (HP:0200055)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Short palm (HP:0004279)
Associated disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Gene: FGD1
Phenotype: Short palm (HP:0004279)
Associated disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Gene: FGD1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGD1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGD1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)