TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Abnormal fibula morphology (HP:0002991)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Abnormal periosteum morphology (HP:0030313)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Hypoplastic lacrimal duct (HP:0007900)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Hypoplasia of the epiglottis (HP:0005349)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Tracheal cartilaginous sleeve (HP:0005347)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Macrotia (HP:0000400)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Strabismus (HP:0000486)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Strabismus (HP:0000486)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Strabismus (HP:0000486)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Strabismus (HP:0000486)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Strabismus (HP:0000486)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Strabismus (HP:0000486)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Strabismus (HP:0000486)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Strabismus (HP:0000486)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Megalocornea (HP:0000485)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Keratitis (HP:0000491)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Small nail (HP:0001792)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Narrow nose (HP:0000460)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Anosmia (HP:0000458)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Short foot (HP:0001773)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Short foot (HP:0001773)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Short foot (HP:0001773)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Broad metatarsal (HP:0001783)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Broad metatarsal (HP:0001783)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Abnormal digit morphology (HP:0011297)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Flat occiput (HP:0005469)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Overlapping toe (HP:0001845)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Proptosis (HP:0000520)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Alacrima (HP:0000522)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Broad toe (HP:0001837)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Telecanthus (HP:0000506)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Split foot (HP:0001839)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)