TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Brachydactyly (HP:0001156)
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: Brachydactyly (HP:0001156)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: FGFR3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Syndactyly (HP:0001159)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Short middle phalanx of toe (HP:0003795)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Duplication of thumb phalanx (HP:0009942)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Duplication of thumb phalanx (HP:0009942)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Epiphora (HP:0009926)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: FGFR3
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Increased nuchal translucency (HP:0010880)
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: Prominent crus of helix (HP:0009899)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Microtia (HP:0008551)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Microtia (HP:0008551)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Microtia (HP:0008551)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Sporadic (HP:0003745)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: FGFR3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Motor delay (HP:0001270)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Seizure (HP:0001250)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Seizure (HP:0001250)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Seizure (HP:0001250)
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: Seizure (HP:0001250)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Seizure (HP:0001250)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Seizure (HP:0001250)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: FGFR3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Short femoral neck (HP:0100864)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Short femoral neck (HP:0100864)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: FGFR3
Phenotype: Brain stem compression (HP:0002512)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Neonatal death (HP:0003811)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Neonatal death (HP:0003811)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Neonatal death (HP:0003811)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Tall stature (HP:0000098)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Abnormality of the kidney (HP:0000077)
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: Abnormality of the kidney (HP:0000077)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Limitation of joint mobility (HP:0001376)
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: Arthritis (HP:0001369)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Joint hypermobility (HP:0001382)
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: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Megalencephaly (HP:0001355)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Megalencephaly (HP:0001355)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Cloverleaf skull (HP:0002676)
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: Small foramen magnum (HP:0002677)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Parietal foramina (HP:0002697)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (OMIM:612247)
Gene: FGFR3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Holoprosencephaly (HP:0001360)
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: Plagiocephaly (HP:0001357)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Azoospermia (HP:0000027)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: FGFR3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Palmoplantar cutis laxa (HP:0007517)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Enlarged cerebellum (HP:0012081)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Thimble-shaped middle phalanges of hand (HP:0006193)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Neoplasm (HP:0002664)
Associated disease: CERVICAL CANCER (OMIM:603956)
Gene: FGFR3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: FGFR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FGFR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (OMIM:612247)
Gene: FGFR3
Phenotype: Skeletal dysplasia (HP:0002652)
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: Skeletal dysplasia (HP:0002652)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Scoliosis (HP:0002650)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Scoliosis (HP:0002650)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CATSHL syndrome; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Camptodactyly-tall stature-scoliosis-deafness syndrome (ORPHA:85164)
Gene: FGFR3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Narrow palate (HP:0000189)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Rhizomelia (HP:0008905)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Rhizomelia (HP:0008905)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Lethal short-limbed short stature (HP:0008909)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Lethal short-limbed short stature (HP:0008909)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Lethal short-limbed short stature (HP:0008909)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Decreased corneal sensation (HP:0012155)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Cleft palate (HP:0000175)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)