TaoMedAI/RareMedData huggingface dataset:
Gene: KASH5
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREMATURE OVARIAN FAILURE 22 (OMIM:620548)
Gene: KASH5
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 88 (OMIM:620547)
Gene: KASH5
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PREMATURE OVARIAN FAILURE 22 (OMIM:620548)
Gene: KASH5
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 88 (OMIM:620547)
Gene: KASH5
Phenotype: Early young adult onset (HP:0025708)
Associated disease: PREMATURE OVARIAN FAILURE 22 (OMIM:620548)
Gene: SIX5
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Microtia (HP:0008551)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: BRANCHIOOTORENAL SYNDROME 2 (OMIM:610896)
Gene: SIX5
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRANCHIOOTORENAL SYNDROME 2 (OMIM:610896)
Gene: SIX5
Phenotype: Cleft palate (HP:0000175)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: BRANCHIOOTORENAL SYNDROME 2 (OMIM:610896)
Gene: SIX5
Phenotype: Dilatation of renal calices (HP:0100581)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Facial palsy (HP:0010628)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Branchial anomaly (HP:0009794)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Branchial cyst (HP:0009796)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Euthyroid goiter (HP:0009798)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Enlarged cochlear aqueduct (HP:0011388)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Aplasia/Hypoplasia of the cochlea (HP:0011395)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Hemifacial hypoplasia (HP:0011332)
Associated disease: BRANCHIOOTORENAL SYNDROME 2 (OMIM:610896)
Gene: SIX5
Phenotype: Abnormal lacrimal duct morphology (HP:0011481)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Abnormality of the middle ear ossicles (HP:0004452)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Abnormal lateral semicircular canal morphology (HP:0040106)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Gustatory lacrimation (HP:0100274)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Branchial sinus (HP:0100272)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Retrognathia (HP:0000278)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: BRANCHIOOTORENAL SYNDROME 2 (OMIM:610896)
Gene: SIX5
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Lop ear (HP:0000394)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BRANCHIOOTORENAL SYNDROME 2 (OMIM:610896)
Gene: SIX5
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: SIX5
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Melnick-Fraser syndrome; Branchiootorenal spectrum disorder; BOR syndrome; Branchiootorenal syndrome (ORPHA:107)
Gene: TICAM1
Phenotype: Chills (HP:0025143)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Seizure (HP:0001250)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Coma (HP:0001259)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 (OMIM:614850)
Gene: TICAM1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Nuchal rigidity (HP:0031179)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 (OMIM:614850)
Gene: TICAM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 (OMIM:614850)
Gene: TICAM1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Cerebral edema (HP:0002181)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: CSF lymphocytic pleiocytosis (HP:0200149)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Hypoglycorrhachia (HP:0011972)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Headache (HP:0002315)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Fever (HP:0001945)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 (OMIM:614850)
Gene: TICAM1
Phenotype: Fatigue (HP:0012378)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Herpes simplex encephalitis (HP:0012302)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 (OMIM:614850)
Gene: TICAM1
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 (OMIM:614850)
Gene: TICAM1
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TICAM1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: SAMD11
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAMD11
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HJV
Phenotype: Lethargy (HP:0001254)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Lethargy (HP:0001254)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Cirrhosis (HP:0001394)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Arthritis (HP:0001369)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Azoospermia (HP:0000027)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Abnormality of endocrine pancreas physiology (HP:0012093)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Amenorrhea (HP:0000141)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Hypogonadism (HP:0000135)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Impotence (HP:0000802)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Arthropathy (HP:0003040)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Young adult onset (HP:0011462)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Infertility (HP:0000789)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Arrhythmia (HP:0011675)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Abnormality of iron homeostasis (HP:0011031)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: HJV
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Gene: HJV
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEMOCHROMATOSIS, TYPE 2A (OMIM:602390)
Gene: B3GALNT2
Phenotype: Meningocele (HP:0002435)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: B3GALNT2
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 (OMIM:615181)
Gene: B3GALNT2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: B3GALNT2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)