TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Absent radius (HP:0003974)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Overriding aorta (HP:0002623)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Narrow palate (HP:0000189)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Narrow palate (HP:0000189)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Narrow palate (HP:0000189)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Narrow palate (HP:0000189)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Narrow palate (HP:0000189)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Narrow palate (HP:0000189)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Narrow palate (HP:0000189)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Absence of Stensen duct (HP:0000198)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Decreased corneal sensation (HP:0012155)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Stomach cancer (HP:0012126)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: FGFR2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: FGFR2
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Lacrimal gland aplasia (HP:0007656)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Lacrimal gland aplasia (HP:0007656)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Open angle glaucoma (HP:0012108)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: FGFR2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Renal agenesis (HP:0000104)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Breath-holding spell (HP:6000950)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Glenoid dysplasia (HP:6000934)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Anal atresia (HP:0002023)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Anal atresia (HP:0002023)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Dysphagia (HP:0002015)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Cervical C5/C6 vertebrae fusion (HP:0004635)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Cervical C5/C6 vertebrae fusion (HP:0004635)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Migraine (HP:0002076)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Radial deviation of the 3rd finger (HP:0009462)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Calcaneonavicular fusion (HP:0008122)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Broad distal hallux (HP:0008111)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Corneal perforation (HP:0100583)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Steep acetabular roof (HP:0010455)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Skin tags (HP:0010609)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Deviation of the thumb (HP:0009603)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Cutis gyrata of scalp (HP:0010541)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Bent long bone (HP:0034530)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Aplasia of the parotid gland (HP:0009740)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Nephrosclerosis (HP:0009741)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Cutaneous syndactyly of toes (HP:0010621)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Broad distal phalanx of the thumb (HP:0009642)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Absent proximal phalanx of thumb (HP:0009637)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Exodeviation (HP:0020049)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Acne (HP:0001061)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Hirsutism (HP:0001007)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Hirsutism (HP:0001007)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Headache (HP:0002315)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Headache (HP:0002315)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Rhizomelic arm shortening (HP:0004991)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Keratoconjunctivitis (HP:0001096)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Open bite (HP:0010807)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Open bite (HP:0010807)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Absent lacrimal punctum (HP:0001092)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Absent lacrimal punctum (HP:0001092)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Dysgerminoma (HP:0100621)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Small hand (HP:0200055)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Small hand (HP:0200055)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)