TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Spasticity (HP:0001257)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Spasticity (HP:0001257)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Spasticity (HP:0001257)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Shortening of all middle phalanges of the fingers (HP:0006110)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGFR1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Broad phalanx (HP:0006009)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FGFR1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FGFR1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Semilobar holoprosencephaly (HP:0002507)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Bone cyst (HP:0012062)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGFR1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Long penis (HP:0000040)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Chordee (HP:0000041)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Lipoma (HP:0012032)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGFR1
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Micropenis (HP:0000054)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Hypospadias (HP:0000047)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Hypospadias (HP:0000047)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGFR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Linear hyperpigmentation (HP:0007546)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Absent speech (HP:0001344)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Absent speech (HP:0001344)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGFR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Tremor (HP:0001337)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Aplasia of the olfactory bulb (HP:0032466)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Abnormal primary molar morphology (HP:0006344)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Short dental root (HP:0006336)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Multiple unerupted teeth (HP:0006283)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Abnormal cartilage morphology (HP:0002763)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)