TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR1
Phenotype: High palate (HP:0000218)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: High palate (HP:0000218)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: High palate (HP:0000218)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Increased female libido (HP:0030019)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Central apnea (HP:0002871)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Central apnea (HP:0002871)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Omphalocele (HP:0001539)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FGFR1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Growth delay (HP:0001510)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Growth delay (HP:0001510)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Growth delay (HP:0001510)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Growth delay (HP:0001510)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Obesity (HP:0001513)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Fatigue (HP:0012378)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Agenesis of mandibular premolar (HP:0011053)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Agenesis of first permanent molar tooth (HP:0011056)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Low-set ears (HP:0000369)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FGFR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FGFR1
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: High forehead (HP:0000348)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Premature birth (HP:0001622)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Tracheal cartilaginous sleeve (HP:0005347)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Strabismus (HP:0000486)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Strabismus (HP:0000486)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Strabismus (HP:0000486)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Eclabion (HP:0012472)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Anosmia (HP:0000458)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Short neck (HP:0000470)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Short foot (HP:0001773)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Short foot (HP:0001773)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Broad foot (HP:0001769)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Broad metatarsal (HP:0001783)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Broad metatarsal (HP:0001783)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR1
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Wide nose (HP:0000445)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Nasal congestion (HP:0001742)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FGFR1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Hypoplasia of the frontal bone (HP:0005466)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Proptosis (HP:0000520)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Proptosis (HP:0000520)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Proptosis (HP:0000520)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR1
Phenotype: Telecanthus (HP:0000506)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Ptosis (HP:0000508)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Short face (HP:0011219)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR3
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME 2 (OMIM:620192)
Gene: FGFR3
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR3
Phenotype: Split hand (HP:0001171)
Associated disease: Thanatophoric dwarfism type 1; TD1; Thanatophoric dysplasia type 1 (ORPHA:1860)
Gene: FGFR3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: HYPOCHONDROPLASIA (OMIM:146000)