TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: FGFR3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (OMIM:612247)
Gene: FGFR3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Xerostomia (HP:0000217)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: High palate (HP:0000218)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: High palate (HP:0000218)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Polyhydramnios (HP:0001561)
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: Polyhydramnios (HP:0001561)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FGFR3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Death in infancy (HP:0001522)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Central apnea (HP:0002871)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Brain abscess (HP:0030049)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Obesity (HP:0001513)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Flat face (HP:0012368)
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: Flat face (HP:0012368)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Cupped ear (HP:0000378)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Cupped ear (HP:0000378)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Small abnormally formed scapulae (HP:0006584)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Small abnormally formed scapulae (HP:0006584)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Hypoplasia of the lacrimal punctum (HP:0007892)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Hearing impairment (HP:0000365)
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: Hearing impairment (HP:0000365)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CATSHL syndrome; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Camptodactyly-tall stature-scoliosis-deafness syndrome (ORPHA:85164)
Gene: FGFR3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: FGFR3
Phenotype: High myopia (HP:0011003)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Low-set ears (HP:0000369)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Low-set ears (HP:0000369)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Broad forehead (HP:0000337)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: FGFR3
Phenotype: High forehead (HP:0000348)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: High forehead (HP:0000348)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Micrognathia (HP:0000347)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Tibial bowing (HP:0002982)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Tibial bowing (HP:0002982)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Micromelia (HP:0002983)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Micromelia (HP:0002983)
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: Micromelia (HP:0002983)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Micromelia (HP:0002983)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Femoral bowing (HP:0002980)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Femoral bowing (HP:0002980)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Femoral bowing (HP:0002980)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Femoral bowing (HP:0002980)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Femoral bowing (HP:0002980)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: FGFR3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (OMIM:612247)
Gene: FGFR3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Patent ductus arteriosus (HP:0001643)
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: Patent ductus arteriosus (HP:0001643)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Radial bowing (HP:0002986)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Breech presentation (HP:0001623)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Breech presentation (HP:0001623)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Genu varum (HP:0002970)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Genu varum (HP:0002970)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Genu varum (HP:0002970)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Abnormal midface morphology (HP:0000309)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Atrial septal defect (HP:0001631)
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: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Hypoplasia of the epiglottis (HP:0005349)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Depressed nasal bridge (HP:0005280)
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: Depressed nasal bridge (HP:0005280)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Strabismus (HP:0000486)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Strabismus (HP:0000486)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Strabismus (HP:0000486)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Anosmia (HP:0000458)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Short neck (HP:0000470)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Short foot (HP:0001773)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Choanal atresia (HP:0000453)
Associated disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (OMIM:612247)
Gene: FGFR3
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Choanal atresia (HP:0000453)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FGFR3
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FGFR3
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: FGFR3
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FGFR3
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)