TaoMedAI/RareMedData huggingface dataset:
Gene: FGF3
Phenotype: Odontoma (HP:0011068)
Associated disease: Globodontia; Otodental syndrome; Otodental dysplasia (ORPHA:2791)
Gene: FGF3
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Globodontia; Otodental syndrome; Otodental dysplasia (ORPHA:2791)
Gene: FGF3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LAMM syndrome; Hearing loss with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-deafness syndrome; Deafness with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-hearing loss syndrome (ORPHA:90024)
Gene: FGF3
Phenotype: Long philtrum (HP:0000343)
Associated disease: Globodontia; Otodental syndrome; Otodental dysplasia (ORPHA:2791)
Gene: FGF3
Phenotype: Micrognathia (HP:0000347)
Associated disease: DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA (OMIM:610706)
Gene: FGF3
Phenotype: Micrognathia (HP:0000347)
Associated disease: LAMM syndrome; Hearing loss with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-deafness syndrome; Deafness with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-hearing loss syndrome (ORPHA:90024)
Gene: FGF3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LAMM syndrome; Hearing loss with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-deafness syndrome; Deafness with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-hearing loss syndrome (ORPHA:90024)
Gene: FGF3
Phenotype: Abnormal maxilla morphology (HP:0000326)
Associated disease: Globodontia; Otodental syndrome; Otodental dysplasia (ORPHA:2791)
Gene: FGF3
Phenotype: Pointed chin (HP:0000307)
Associated disease: LAMM syndrome; Hearing loss with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-deafness syndrome; Deafness with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-hearing loss syndrome (ORPHA:90024)
Gene: FGF3
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: Globodontia; Otodental syndrome; Otodental dysplasia (ORPHA:2791)
Gene: FGF3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LAMM syndrome; Hearing loss with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-deafness syndrome; Deafness with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-hearing loss syndrome (ORPHA:90024)
Gene: FGF3
Phenotype: Strabismus (HP:0000486)
Associated disease: LAMM syndrome; Hearing loss with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-deafness syndrome; Deafness with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-hearing loss syndrome (ORPHA:90024)
Gene: FGF3
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: Globodontia; Otodental syndrome; Otodental dysplasia (ORPHA:2791)
Gene: FGF3
Phenotype: Microcornea (HP:0000482)
Associated disease: Globodontia; Otodental syndrome; Otodental dysplasia (ORPHA:2791)
Gene: FGF3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA (OMIM:610706)
Gene: FGF3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LAMM syndrome; Hearing loss with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-deafness syndrome; Deafness with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-hearing loss syndrome (ORPHA:90024)
Gene: FGF3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Globodontia; Otodental syndrome; Otodental dysplasia (ORPHA:2791)
Gene: FGF3
Phenotype: Prominent nose (HP:0000448)
Associated disease: LAMM syndrome; Hearing loss with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-deafness syndrome; Deafness with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-hearing loss syndrome (ORPHA:90024)
Gene: FGF3
Phenotype: Prominent nose (HP:0000448)
Associated disease: DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA (OMIM:610706)
Gene: FGF3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: LAMM syndrome; Hearing loss with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-deafness syndrome; Deafness with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-hearing loss syndrome (ORPHA:90024)
Gene: FGF3
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: LAMM syndrome; Hearing loss with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-deafness syndrome; Deafness with labyrinthine aplasia, microtia, and microdontia; Microdontia-type I microtia-hearing loss syndrome (ORPHA:90024)
Gene: FGF3
Phenotype: High-frequency sensorineural hearing impairment (HP:0001757)
Associated disease: Globodontia; Otodental syndrome; Otodental dysplasia (ORPHA:2791)
Gene: FGF3
Phenotype: Cataract (HP:0000518)
Associated disease: Globodontia; Otodental syndrome; Otodental dysplasia (ORPHA:2791)
Gene: FGF3
Phenotype: Microtia, first degree (HP:0011266)
Associated disease: DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA (OMIM:610706)
Gene: FGF3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Globodontia; Otodental syndrome; Otodental dysplasia (ORPHA:2791)
Gene: FGF5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRICHOMEGALY (OMIM:190330)
Gene: FGF5
Phenotype: Cataract (HP:0000518)
Associated disease: TRICHOMEGALY (OMIM:190330)
Gene: FGF5
Phenotype: Long eyelashes (HP:0000527)
Associated disease: TRICHOMEGALY (OMIM:190330)
Gene: FGF8
Phenotype: Poor speech (HP:0002465)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Poor speech (HP:0002465)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Poor speech (HP:0002465)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FGF8
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGF8
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Limb dystonia (HP:0002451)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Single naris (HP:0009932)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Single naris (HP:0009932)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Single naris (HP:0009932)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Cyclopia (HP:0009914)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGF8
Phenotype: Cyclopia (HP:0009914)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Cyclopia (HP:0009914)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Cyclopia (HP:0009914)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FGF8
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF8
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF8
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FGF8
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGF8
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FGF8
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGF8
Phenotype: Lethargy (HP:0001254)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Lethargy (HP:0001254)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Lethargy (HP:0001254)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Lethargy (HP:0001254)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Seizure (HP:0001250)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Seizure (HP:0001250)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGF8
Phenotype: Seizure (HP:0001250)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Seizure (HP:0001250)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGF8
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGF8
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF8
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGF8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FGF8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGF8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF8
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGF8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF8
Phenotype: Spasticity (HP:0001257)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Spasticity (HP:0001257)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Spasticity (HP:0001257)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Spasticity (HP:0001257)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGF8
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGF8
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGF8
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: FGF8
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGF8
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGF8
Phenotype: Abnormal septum pellucidum morphology (HP:0007375)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FGF8
Phenotype: Frontoethmoidal encephalocele (HP:0007330)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FGF8
Phenotype: Inability to walk (HP:0002540)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Inability to walk (HP:0002540)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Inability to walk (HP:0002540)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Inability to walk (HP:0002540)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF8
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGF8
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGF8
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA (OMIM:612702)
Gene: FGF8
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGF8
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGF8
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGF8
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGF8
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGF8
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA (OMIM:612702)
Gene: FGF8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF8
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FGF8
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF8
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: FGF8
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGF8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGF8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGF8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGF8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA (OMIM:612702)
Gene: FGF8
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGF8
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF8
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGF8
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Septopreoptic HPE; Septopreoptic holoprosencephaly (ORPHA:280195)
Gene: FGF8
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FGF8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGF8
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: FGF8
Phenotype: Absent speech (HP:0001344)
Associated disease: MIH type HPE; MIH; MIHF; MIHV; Middle interhemispheric fusion variant; Syntelencephaly; Midline interhemispheric variant of holoprosencephaly; Middle interhemispheric variant of holoprosencephaly (ORPHA:93926)
Gene: FGF8
Phenotype: Absent speech (HP:0001344)
Associated disease: Lobar holoprosencephaly (ORPHA:93924)
Gene: FGF8
Phenotype: Absent speech (HP:0001344)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: FGF8
Phenotype: Absent speech (HP:0001344)
Associated disease: Semilobar holoprosencephaly (ORPHA:220386)
Gene: FGF8
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF8
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: FGF8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: FGF8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGF8
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)