TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Lacrimal gland aplasia (HP:0007656)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Floppy infant (HP:0008947)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Floppy infant (HP:0008947)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: FGFR3
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Open angle glaucoma (HP:0012108)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Uterine leiomyoma (HP:0000131)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Craniocervical junction constriction (HP:6000920)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FGFR3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: FGFR3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: CERVICAL CANCER (OMIM:603956)
Gene: FGFR3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: FGFR3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: NEVUS, EPIDERMAL (OMIM:162900)
Gene: FGFR3
Phenotype: Temporal bossing (HP:0032569)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Dysphagia (HP:0002015)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Frontal bossing (HP:0002007)
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: Frontal bossing (HP:0002007)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: FGFR3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (OMIM:612247)
Gene: FGFR3
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Encephalocele (HP:0002084)
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: Cognitive impairment (HP:0100543)
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: Respiratory distress (HP:0002098)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: 1-minute APGAR score of 1 (HP:0030928)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Respiratory insufficiency (HP:0002093)
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: Respiratory insufficiency (HP:0002093)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: 5-minute APGAR score of 1 (HP:0030921)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Migraine (HP:0002076)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Migraine (HP:0002076)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Ventriculomegaly (HP:0002119)
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: Ventriculomegaly (HP:0002119)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE II (OMIM:187601)
Gene: FGFR3
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Skin tags (HP:0010609)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CATSHL syndrome; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Camptodactyly-tall stature-scoliosis-deafness syndrome (ORPHA:85164)
Gene: FGFR3
Phenotype: Abnormality of lower limb joint (HP:0100491)
Associated disease: CATSHL syndrome; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Camptodactyly-tall stature-scoliosis-deafness syndrome (ORPHA:85164)
Gene: FGFR3
Phenotype: Abnormal iliac wing morphology (HP:0011867)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Sleep apnea (HP:0010535)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Fibular bowing (HP:0010502)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Abnormality of neuronal migration (HP:0002269)
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: Congenital onset (HP:0003577)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Choriocarcinoma (HP:0100768)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: FGFR3
Phenotype: Lumbar kyphosis in infancy (HP:0008414)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Abnormal sacroiliac joint morphology (HP:0100781)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Exostoses (HP:0100777)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Bladder neoplasm (HP:0009725)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: FGFR3
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Metacarpal synostosis (HP:0009701)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: FGFR3
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: THANATOPHORIC DYSPLASIA, TYPE I (OMIM:187600)
Gene: FGFR3
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Severe short stature (HP:0003510)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS (OMIM:616482)
Gene: FGFR3
Phenotype: Numerous nevi (HP:0001054)
Associated disease: NEVUS, EPIDERMAL (OMIM:162900)
Gene: FGFR3
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Headache (HP:0002315)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Aplasia/hypoplasia of the extremities (HP:0009815)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Keratoconjunctivitis (HP:0001096)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Open bite (HP:0010807)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Absent lacrimal punctum (HP:0001092)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Absent lacrimal punctum (HP:0001092)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: Hypochondroplasia (ORPHA:429)
Gene: FGFR3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Teratoma (HP:0009792)
Associated disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Gene: FGFR3
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: ACHONDROPLASIA (OMIM:100800)
Gene: FGFR3
Phenotype: Absent thumb (HP:0009777)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Cervical spinal canal stenosis (HP:0008445)
Associated disease: Achondroplasia (ORPHA:15)
Gene: FGFR3
Phenotype: Short thumb (HP:0009778)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Limbal stem cell deficiency (HP:0032107)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Duplication of the distal phalanx of the hallux (HP:0010084)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Short palm (HP:0004279)
Associated disease: Muenke syndrome (ORPHA:53271)
Gene: FGFR3
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FGFR3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Amblyopia (HP:0000646)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Amblyopia (HP:0000646)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Crouzon syndrome-acanthosis nigricans syndrome; Crouzon-dermoskeletal syndrome (ORPHA:93262)
Gene: FGFR3
Phenotype: Blepharospasm (HP:0000643)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Hypotelorism (HP:0000601)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR3
Phenotype: Broad hallux (HP:0010055)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Conical tooth (HP:0000698)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Widened interpedicular distance (HP:0012679)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)
Gene: FGFR3
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Gene: FGFR3
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR3
Phenotype: Microdontia (HP:0000691)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Microdontia (HP:0000691)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: MUENKE SYNDROME (OMIM:602849)
Gene: FGFR3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Carious teeth (HP:0000670)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)