TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR3
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: TD2; Thanatophoric dysplasia type 2; Cloverleaf skull-micromelic bone dysplasia syndrome; Thanatophoric dwarfism-cloverleaf skull syndrome; Thanatophoric dwarfism type 2 (ORPHA:93274)
Gene: FGFR3
Phenotype: Abnormal digit morphology (HP:0011297)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Osteochondroma (HP:0030431)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Proptosis (HP:0000520)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Proptosis (HP:0000520)
Associated disease: TD2; Thanatophoric dysplasia type 2; Cloverleaf skull-micromelic bone dysplasia syndrome; Thanatophoric dwarfism-cloverleaf skull syndrome; Thanatophoric dwarfism type 2 (ORPHA:93274)
Gene: FGFR3
Phenotype: Proptosis (HP:0000520)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Proptosis (HP:0000520)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Proptosis (HP:0000520)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: FGFR3
Phenotype: Proptosis (HP:0000520)
Associated disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (OMIM:612247)
Gene: FGFR3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Proptosis (HP:0000520)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Alacrima (HP:0000522)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Hallux valgus (HP:0001822)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Broad toe (HP:0001837)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Ptosis (HP:0000508)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Ptosis (HP:0000508)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Ptosis (HP:0000508)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Ptosis (HP:0000508)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Ptosis (HP:0000508)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Short toe (HP:0001831)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Trident hand (HP:0004060)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Trident hand (HP:0004060)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Trident hand (HP:0004060)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Exotropia (HP:0000577)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Exotropia (HP:0000577)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Lacrimal duct atresia (HP:0000564)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Syndactyly (HP:0001159)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Syndactyly (HP:0001159)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Syndactyly (HP:0001159)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Syndactyly (HP:0001159)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Short middle phalanx of toe (HP:0003795)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Partial duplication of the distal phalanx of the 3rd finger (HP:0009968)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Partial duplication of the distal phalanx of the 2nd finger (HP:0009951)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Duplication of thumb phalanx (HP:0009942)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Epiphora (HP:0009926)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Aplasia/Hypoplasia of the earlobes (HP:0009906)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Prominent crus of helix (HP:0009899)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Prominent crus of helix (HP:0009899)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Microtia (HP:0008551)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Microtia (HP:0008551)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Microtia (HP:0008551)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Microtia (HP:0008551)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: 3-4 toe cutaneous syndactyly (HP:6000648)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: Seizure (HP:0001250)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Seizure (HP:0001250)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Seizure (HP:0001250)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Seizure (HP:0001250)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Seizure (HP:0001250)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (OMIM:609579)
Gene: FGFR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Small thenar eminence (HP:0001245)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Shortening of all middle phalanges of the fingers (HP:0006110)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Coronal hypospadias (HP:0008743)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Infra-orbital crease (HP:0100876)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Abnormal morphology of the limbic system (HP:0007343)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Variable expressivity (HP:0003828)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Fused labia minora (HP:0000063)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Gene: FGFR2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Arthritis (HP:0001369)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Hypospadias (HP:0000047)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Megalencephaly (HP:0001355)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Skull asymmetry (HP:0002678)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Parietal foramina (HP:0002697)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Parietal foramina (HP:0002697)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Palmoplantar cutis laxa (HP:0007517)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Palmoplantar cutis gyrata (HP:0007469)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Cervical C6/C7 vertebrae fusion (HP:6000807)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: FGFR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Gene: FGFR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)