TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Constipation (HP:0002019)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Constipation (HP:0002019)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Constipation (HP:0002019)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Poor suck (HP:0002033)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Poor suck (HP:0002033)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Vomiting (HP:0002013)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Vomiting (HP:0002013)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Temperature instability (HP:0005968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Temperature instability (HP:0005968)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR1
Phenotype: Encephalocele (HP:0002084)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Asthma (HP:0002099)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Rigidity (HP:0002063)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Calcaneonavicular fusion (HP:0008122)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Paralysis (HP:0003470)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Paraplegia (HP:0010550)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Echolalia (HP:0010529)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Gonadotropin deficiency (HP:0008213)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Nevus psiloliparus (HP:0034587)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Astrocytoma (HP:0009592)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Congenital onset (HP:0003577)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGFR1
Phenotype: Sparse body hair (HP:0002231)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGFR1
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Midnasal stenosis (HP:0010644)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Severe short stature (HP:0003510)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Aphasia (HP:0002381)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Subcutaneous lipoma (HP:0001031)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGFR1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Osteoglophonic dwarfism; Osteoglosphonic dysplasia (ORPHA:2645)
Gene: FGFR1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Papilledema (HP:0001085)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FGFR1
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Short thumb (HP:0009778)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Lumbar hemivertebrae (HP:0008439)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Mutism (HP:0002300)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Chiari malformation (HP:0002308)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGFR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome; Hartsfield syndrome (ORPHA:2117)
Gene: FGFR1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Broad proximal phalanx of the hallux (HP:0010086)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR1
Phenotype: Broad first metatarsal (HP:0010068)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR1
Phenotype: Broad distal phalanx of the hallux (HP:0010077)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR1
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Short palm (HP:0004279)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Short palm (HP:0004279)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGFR1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Sclerocornea (HP:0000647)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA (OMIM:147950)
Gene: FGFR1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: FGFR1
Phenotype: Polydipsia (HP:0001959)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS (OMIM:613001)
Gene: FGFR1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: FGFR1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGFR1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FGFR1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGFR1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGFR1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: HARTSFIELD SYNDROME (OMIM:615465)
Gene: FGFR1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Broad hallux (HP:0010055)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR1
Phenotype: Broad hallux (HP:0010055)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Taurodontia (HP:0000679)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Dental crowding (HP:0000678)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Oligodontia (HP:0000677)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Microdontia (HP:0000691)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: TRIGONOCEPHALY 1 (OMIM:190440)
Gene: FGFR1
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: Isolated metopic craniosynostosis; Non-syndromic metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Gene: FGFR1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: FGFR1
Phenotype: Bicoronal synostosis (HP:0011318)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR1
Phenotype: Broad thumb (HP:0011304)
Associated disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Gene: FGFR1
Phenotype: Broad thumb (HP:0011304)
Associated disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Gene: FGFR1
Phenotype: Broad thumb (HP:0011304)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)