TaoMedAI/RareMedData huggingface dataset:
Gene: GLI3
Phenotype: Renal cyst (HP:0000107)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Anal atresia (HP:0002023)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Anal atresia (HP:0002023)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Anal atresia (HP:0002023)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Anal atresia (HP:0002023)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Polydactyly (HP:0010442)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Thyroid dysgenesis (HP:0008188)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Supernumerary metacarpal bones (HP:0005917)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: POLYDACTYLY, PREAXIAL IV (OMIM:174700)
Gene: GLI3
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Bifid epiglottis (HP:0010564)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Bifid epiglottis (HP:0010564)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Y-shaped metatarsals (HP:0010567)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Y-shaped metatarsals (HP:0010567)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Secondary growth hormone deficiency (HP:0008240)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Absent tibia (HP:0009556)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Gonadotropin deficiency (HP:0008213)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Congenital onset (HP:0003577)
Associated disease: POLYDACTYLY, PREAXIAL IV (OMIM:174700)
Gene: GLI3
Phenotype: Congenital onset (HP:0003577)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Congenital onset (HP:0003577)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Congenital onset (HP:0003577)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: 1-5 toe syndactyly (HP:0010713)
Associated disease: POLYDACTYLY, PREAXIAL IV (OMIM:174700)
Gene: GLI3
Phenotype: Recurrent upper and lower respiratory tract infections (HP:0200117)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Cutaneous syndactyly of toes (HP:0010621)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Hirsutism (HP:0001007)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Mesomelic leg shortening (HP:0004987)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Broad hallux (HP:0010055)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Broad hallux (HP:0010055)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Aplasia of the 2nd metacarpal (HP:0010037)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Aplasia of the 4th metacarpal (HP:0010043)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Natal tooth (HP:0000695)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Natal tooth (HP:0000695)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Broad thumb (HP:0011304)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Broad thumb (HP:0011304)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Broad thumb (HP:0011304)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Broad thumb (HP:0011304)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Short stature (HP:0004322)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Short stature (HP:0004322)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Dysplastic distal thumb phalanges with a central hole (HP:0005688)
Associated disease: POLYDACTYLY, PREAXIAL IV (OMIM:174700)
Gene: GLI3
Phenotype: Mesomelia (HP:0003027)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Paroxysmal bursts of laughter (HP:0000749)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Mesoaxial foot polydactyly (HP:0010112)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Short tibia (HP:0005736)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Short nose (HP:0003196)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Short nose (HP:0003196)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Rib fusion (HP:0000902)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Rib fusion (HP:0000902)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Precocious puberty (HP:0000826)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Abnormal prolactin level (HP:0040086)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Proximal tibial and fibular fusion (HP:0005892)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Mesoaxial polydactyly (HP:0100260)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: POLYDACTYLY, PREAXIAL IV (OMIM:174700)
Gene: GLI3
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Facial grimacing (HP:0000273)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Prominent occiput (HP:0000269)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Increased laxity of ankles (HP:0006460)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Rudimentary to absent tibiae (HP:0006426)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Distal shortening of limbs (HP:0006402)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated tibial longitudinal meromelia; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial hemimelia (ORPHA:93322)
Gene: GLI3
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)