TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR3
Phenotype: Carious teeth (HP:0000670)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Broad thumb (HP:0011304)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Broad thumb (HP:0011304)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Hypodontia (HP:0000668)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Hypodontia (HP:0000668)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Short stature (HP:0004322)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Short stature (HP:0004322)
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: Short stature (HP:0004322)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Late first trimester onset (HP:0034199)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Second trimester onset (HP:0034198)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Short long bone (HP:0003026)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Short long bone (HP:0003026)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Short long bone (HP:0003026)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Mesomelia (HP:0003027)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Childhood onset short-limb short stature (HP:0011405)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Increased corneal thickness (HP:0011487)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Abnormal lacrimal gland morphology (HP:0011482)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Abnormal lacrimal duct morphology (HP:0011481)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Functional abnormality of the middle ear (HP:0011452)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Narrow chest (HP:0000774)
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: Narrow chest (HP:0000774)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Narrow chest (HP:0000774)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Narrow chest (HP:0000774)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Narrow chest (HP:0000774)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Short ribs (HP:0000773)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Short ribs (HP:0000773)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Short ribs (HP:0000773)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Aplasia/Hypoplasia of the mandible (HP:0009118)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Spinal stenosis with reduced interpedicular distance (HP:0005733)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Short nasal bridge (HP:0003194)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Wide-cupped costochondral junctions (HP:0000910)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Wide-cupped costochondral junctions (HP:0000910)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Platyspondyly (HP:0000926)
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: Platyspondyly (HP:0000926)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Short greater sciatic notch (HP:0003185)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Short greater sciatic notch (HP:0003185)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Short greater sciatic notch (HP:0003185)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Temporal lobe dysplasia (HP:0034222)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Temporal lobe dysplasia (HP:0034222)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Champagne cork sign (HP:0034226)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Short femur (HP:0003097)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Short femur (HP:0003097)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Limited hip extension (HP:0003093)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Abnormal salivary gland morphology (HP:0010286)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Short proximal phalanx of finger (HP:0010241)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Increased vertebral height (HP:0004570)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Hip joint hypermobility (HP:0045087)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Knee joint hypermobility (HP:0045086)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (OMIM:612247)
Gene: FGFR3
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: NEVUS, EPIDERMAL (OMIM:162900)
Gene: FGFR3
Phenotype: Short thorax (HP:0010306)
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: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (OMIM:612247)
Gene: FGFR3
Phenotype: Acanthosis nigricans (HP:0000956)
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: Acanthosis nigricans (HP:0000956)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Abnormal metaphysis morphology (HP:0000944)
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 metaphysis morphology (HP:0000944)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Epicanthus (HP:0000286)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Turricephaly (HP:0000262)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Macrocephaly (HP:0000256)
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: Macrocephaly (HP:0000256)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Small face (HP:0000274)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Small face (HP:0000274)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Malar flattening (HP:0000272)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Malar flattening (HP:0000272)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Malar flattening (HP:0000272)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Malar flattening (HP:0000272)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Malar flattening (HP:0000272)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Wide femoral metaphysis (HP:0006417)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Cervix cancer (HP:0030079)
Associated disease: CERVICAL CANCER (OMIM:603956)
Gene: FGFR3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Kyphosis (HP:0002808)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Kyphosis (HP:0002808)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Kyphosis (HP:0002808)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Kyphosis (HP:0002808)
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: Proximal radio-ulnar synostosis (HP:0005037)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Parietal bossing (HP:0000242)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Hydrocephalus (HP:0000238)
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: Hydrocephalus (HP:0000238)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (OMIM:612247)
Gene: FGFR3
Phenotype: Embryonal neoplasm (HP:0002898)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: FGFR3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Microcephaly (HP:0000252)
Associated disease: CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME (OMIM:610474)
Gene: FGFR3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Redundant skin (HP:0001582)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Redundant skin (HP:0001582)
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: Redundant skin (HP:0001582)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Muenke syndrome (ORPHA:53271)