TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR2
Phenotype: Abnormal salivary gland morphology (HP:0010286)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Short clavicles (HP:0000894)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Short clavicles (HP:0000894)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Prominent scrotal raphe (HP:0003246)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Prominent scrotal raphe (HP:0003246)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Narrow pelvis bone (HP:0003275)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Redundant umbilical skin (HP:0034361)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Hallux varus (HP:0008080)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Hallux varus (HP:0008080)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Hallux varus (HP:0008080)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Hallux varus (HP:0008080)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Epicanthus (HP:0000286)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Oxycephaly (HP:0000263)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Turricephaly (HP:0000262)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Turricephaly (HP:0000262)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Turricephaly (HP:0000262)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Malar flattening (HP:0000272)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (OMIM:609579)
Gene: FGFR2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Lacrimal gland hypoplasia (HP:0007732)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Proximal radio-ulnar synostosis (HP:0005037)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Large fontanelles (HP:0000239)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Xerostomia (HP:0000217)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Xerostomia (HP:0000217)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: High palate (HP:0000218)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: High palate (HP:0000218)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: High palate (HP:0000218)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: High palate (HP:0000218)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: High palate (HP:0000218)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: High palate (HP:0000218)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: High palate (HP:0000218)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: High palate (HP:0000218)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Growth abnormality (HP:0001507)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Incomplete ossification of pubis (HP:0030042)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Conical incisor (HP:0011065)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Flat face (HP:0012368)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Flat face (HP:0012368)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Flat face (HP:0012368)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Cupped ear (HP:0000378)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Cupped ear (HP:0000378)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Thickened helices (HP:0000391)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Otitis media (HP:0000388)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Hypoplasia of the lacrimal punctum (HP:0007892)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Hypoplasia of the lacrimal punctum (HP:0007892)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Long philtrum (HP:0000343)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Broad forehead (HP:0000337)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Broad forehead (HP:0000337)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: High forehead (HP:0000348)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: High forehead (HP:0000348)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: High forehead (HP:0000348)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: High forehead (HP:0000348)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: High forehead (HP:0000348)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: High forehead (HP:0000348)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: High forehead (HP:0000348)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: High forehead (HP:0000348)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: High forehead (HP:0000348)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Micrognathia (HP:0000347)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Micrognathia (HP:0000347)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Micromelia (HP:0002983)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Femoral bowing (HP:0002980)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)