TaoMedAI/RareMedData huggingface dataset:
Gene: PDP1
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: PDH phosphatase deficiency; Pyruvate dehydrogenase phosphatase deficiency (ORPHA:79246)
Gene: CNGB3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: ACHROMATOPSIA 3 (OMIM:262300)
Gene: CNGB3
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACHROMATOPSIA 3 (OMIM:262300)
Gene: CNGB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: ACHROMATOPSIA 3 (OMIM:262300)
Gene: CNGB3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Yellow/white lesions of the macula (HP:0030500)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Moderately reduced visual acuity (HP:0030515)
Associated disease: ACHROMATOPSIA 3 (OMIM:262300)
Gene: CNGB3
Phenotype: Nystagmus (HP:0000639)
Associated disease: ACHROMATOPSIA 3 (OMIM:262300)
Gene: CNGB3
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Photophobia (HP:0000613)
Associated disease: ACHROMATOPSIA 3 (OMIM:262300)
Gene: CNGB3
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: CNGB3
Phenotype: Photophobia (HP:0000613)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Central scotoma (HP:0000603)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Central scotoma (HP:0000603)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Undetectable light-adapted electroretinogram (HP:0030465)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Inner retinal layer loss on macular OCT (HP:0030620)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Color vision test abnormality (HP:0030584)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Photopsia (HP:0030786)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Achromatopsia (HP:0011516)
Associated disease: ACHROMATOPSIA 3 (OMIM:262300)
Gene: CNGB3
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Abnormality of macular pigmentation (HP:0008002)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Aplasia/Hypoplasia of the macula (HP:0008059)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: CNGB3
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Eccentric visual fixation (HP:0025549)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Abnormal pupillary light reflex (HP:0007695)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Monochromacy (HP:0007803)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Monochromacy (HP:0007803)
Associated disease: ACHROMATOPSIA 3 (OMIM:262300)
Gene: CNGB3
Phenotype: Horizontal pendular nystagmus (HP:0007811)
Associated disease: ACHROMATOPSIA 3 (OMIM:262300)
Gene: CNGB3
Phenotype: High myopia (HP:0011003)
Associated disease: ACHROMATOPSIA 3 (OMIM:262300)
Gene: CNGB3
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Abnormal foveal morphology (HP:0000493)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Cataract (HP:0000518)
Associated disease: ACHROMATOPSIA 3 (OMIM:262300)
Gene: CNGB3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: CNGB3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: CNGB3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Color vision defect (HP:0000551)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: CNGB3
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: CNGB3
Phenotype: Color vision defect (HP:0000551)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: CNGB3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNGB3
Phenotype: Myopia (HP:0000545)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: SLC6A20
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A20
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A20
Phenotype: Hydroxyprolinuria (HP:0003080)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A20
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A20
Phenotype: Prolinuria (HP:0003137)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A20
Phenotype: Hydroxyprolinemia (HP:0003260)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: IL17RD
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
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: IL17RD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA (OMIM:615267)
Gene: IL17RD
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Tremor (HP:0001337)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA (OMIM:615267)
Gene: IL17RD
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA (OMIM:615267)
Gene: IL17RD
Phenotype: Cleft palate (HP:0000175)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Hypogonadism (HP:0000135)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA (OMIM:615267)
Gene: IL17RD
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA (OMIM:615267)
Gene: IL17RD
Phenotype: Paraplegia (HP:0010550)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Hyposmia (HP:0004409)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA (OMIM:615267)
Gene: IL17RD
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA (OMIM:615267)
Gene: IL17RD
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Hearing impairment (HP:0000365)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA (OMIM:615267)
Gene: IL17RD
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA (OMIM:615267)
Gene: IL17RD
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: IL17RD
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: FAM20A
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Gene: FAM20A
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Gene: FAM20A
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Gene: FAM20A
Phenotype: Dagger-shaped pulp calcifications (HP:0006302)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Gene: FAM20A
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Gene: FAM20A
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Nephropathy (HP:0000112)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Polyuria (HP:0000103)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Gene: FAM20A
Phenotype: Abnormal circulating calcium-phosphate regulating hormone concentration (HP:0100530)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Impaired renal concentrating ability (HP:0004727)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Impaired renal concentrating ability (HP:0004727)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Gene: FAM20A
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Gene: FAM20A
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)
Gene: FAM20A
Phenotype: Enuresis (HP:0000805)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IG (OMIM:204690)
Gene: FAM20A
Phenotype: Enuresis (HP:0000805)
Associated disease: Enamel-renal syndrome; Amelogenesis imperfecta-nephrocalcinosis syndrome (ORPHA:1031)