TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR2
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Absent thumb (HP:0009777)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Short thumb (HP:0009778)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Short thumb (HP:0009778)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Short metatarsal (HP:0010743)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Chiari malformation (HP:0002308)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Chiari malformation (HP:0002308)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Limbal stem cell deficiency (HP:0032107)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Limbal stem cell deficiency (HP:0032107)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Duplication of the distal phalanx of the hallux (HP:0010084)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Broad proximal phalanx of the hallux (HP:0010086)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Broad first metatarsal (HP:0010068)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Broad distal phalanx of the hallux (HP:0010077)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: Short palm (HP:0004279)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Amblyopia (HP:0000646)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Amblyopia (HP:0000646)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Amblyopia (HP:0000646)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Blepharospasm (HP:0000643)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Dacryocystitis (HP:0000620)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Abnormal semicircular canal morphology (HP:0011380)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Broad hallux (HP:0010055)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Broad hallux (HP:0010055)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Broad hallux (HP:0010055)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Broad hallux (HP:0010055)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Dental crowding (HP:0000678)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Dental crowding (HP:0000678)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Dental crowding (HP:0000678)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Natal tooth (HP:0000695)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Natal tooth (HP:0000695)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Natal tooth (HP:0000695)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Microdontia (HP:0000691)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Microdontia (HP:0000691)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Multiple suture craniosynostosis (HP:0011324)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Cleft of chin (HP:0011323)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Bicoronal synostosis (HP:0011318)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Carious teeth (HP:0000670)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Carious teeth (HP:0000670)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Broad thumb (HP:0011304)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Hypodontia (HP:0000668)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Hypodontia (HP:0000668)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Short stature (HP:0004322)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Short stature (HP:0004322)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Elbow ankylosis (HP:0003070)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Ectopic anus (HP:0004397)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Increased corneal thickness (HP:0011487)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Abnormal lacrimal gland morphology (HP:0011482)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Abnormal lacrimal duct morphology (HP:0011481)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Short hallux (HP:0010109)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Short hallux (HP:0010109)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Short hallux (HP:0010109)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Absent first metatarsal (HP:0010104)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Short first metatarsal (HP:0010105)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Narrow chest (HP:0000774)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Craniofacial dysostosis (HP:0004439)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Overfolding of the superior helices (HP:0004453)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Preauricular skin furrow (HP:0004450)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Preauricular skin furrow (HP:0004450)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Flat forehead (HP:0004425)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Deviated nasal septum (HP:0004411)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Bilateral triphalangeal thumbs (HP:0005707)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Short nose (HP:0003196)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Short nose (HP:0003196)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Short nose (HP:0003196)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Short nose (HP:0003196)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Long nose (HP:0003189)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Acrobrachycephaly (HP:0004487)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Acrobrachycephaly (HP:0004487)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Anomalous tracheal cartilage (HP:0004468)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Anisometropia (HP:0012803)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Hypertension (HP:0000822)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Hypertension (HP:0000822)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Hypertension (HP:0000822)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)