TaoMedAI/RareMedData huggingface dataset:
Gene: GLI2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Strabismus (HP:0000486)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: GLI2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: GLI2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: GLI2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: GLI2
Phenotype: Short neck (HP:0000470)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: GLI2
Phenotype: Abnormal digit morphology (HP:0011297)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: GLI2
Phenotype: Underdeveloped tragus (HP:0011272)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Anophthalmia (HP:0000528)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Ptosis (HP:0000508)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Gene: GLI2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Split hand (HP:0001171)
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: Brachydactyly (HP:0001156)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Syndactyly (HP:0001159)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Syndactyly (HP:0001159)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Syndactyly (HP:0001159)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Syndactyly (HP:0001159)
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: Myelomeningocele (HP:0002475)
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: Hypothalamic hamartoma (HP:0002444)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Bilateral renal agenesis (HP:0010958)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Polydactyly affecting the 4th finger (HP:0009971)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Polydactyly affecting the 3rd finger (HP:0009958)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Duplication of thumb phalanx (HP:0009942)
Associated disease: POLYDACTYLY, PREAXIAL IV (OMIM:174700)
Gene: GLI3
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Microtia (HP:0008551)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Microtia (HP:0008551)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Seizure (HP:0001250)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Seizure (HP:0001250)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Seizure (HP:0001250)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Laryngeal cleft (HP:0008751)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Laryngeal cleft (HP:0008751)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Distal urethral duplication (HP:0008706)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Y-shaped metacarpals (HP:0006042)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Y-shaped metacarpals (HP:0006042)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Y-shaped metacarpals (HP:0006042)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Aplasia/hypoplasia of the uterus (HP:0008684)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Variable expressivity (HP:0003828)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Neonatal death (HP:0003811)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Tall stature (HP:0000098)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Ambiguous genitalia (HP:0000062)
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: Hydroureter (HP:0000072)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Small scrotum (HP:0000046)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Micropenis (HP:0000054)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Micropenis (HP:0000054)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Hip dysplasia (HP:0001385)
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: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Hypospadias (HP:0000047)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Hypospadias (HP:0000047)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Hypospadias (HP:0000047)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Hypospadias (HP:0000047)
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: Abnormal calvaria morphology (HP:0002683)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: GCPS; Greig cephalopolysyndactyly syndrome (ORPHA:380)
Gene: GLI3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Cryptorchidism (HP:0000028)
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: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Mesoaxial hand polydactyly (HP:0006159)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Bilateral postaxial polydactyly (HP:0006136)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Coxa valga (HP:0002673)
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: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Gene: GLI3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYDACTYLY, PREAXIAL IV (OMIM:174700)
Gene: GLI3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: GLI3
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Absent radius (HP:0003974)
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: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLI3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Midline facial capillary hemangioma (HP:0007601)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Midline facial capillary hemangioma (HP:0007601)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Oligodactyly (HP:0012165)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Oligodactyly (HP:0012165)
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: Cleft palate (HP:0000175)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Cleft palate (HP:0000175)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLI3
Phenotype: Cleft palate (HP:0000175)
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: Microglossia (HP:0000171)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Microglossia (HP:0000171)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Cleft lip (HP:0410030)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: 1-3 toe syndactyly (HP:0001459)
Associated disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Gene: GLI3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Gene: GLI3
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Gene: GLI3
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: PALLISTER-HALL SYNDROME (OMIM:146510)