TaoMedAI/RareMedData huggingface dataset:
Gene: BBS5
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: BARDET-BIEDL SYNDROME 5 (OMIM:615983)
Gene: BBS5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BARDET-BIEDL SYNDROME 5 (OMIM:615983)
Gene: BBS5
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: BARDET-BIEDL SYNDROME 5 (OMIM:615983)
Gene: BBS5
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: BARDET-BIEDL SYNDROME 5 (OMIM:615983)
Gene: BBS5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: BARDET-BIEDL SYNDROME 5 (OMIM:615983)
Gene: BBS5
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 5 (OMIM:615983)
Gene: BBS5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: BARDET-BIEDL SYNDROME 5 (OMIM:615983)
Gene: BBS5
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 5 (OMIM:615983)
Gene: BBS5
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS5
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: BARDET-BIEDL SYNDROME 5 (OMIM:615983)
Gene: BBS5
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AP1S3
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO (OMIM:616106)
Gene: AP1S3
Phenotype: Sepsis (HP:0100806)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Geographic tongue (HP:0025252)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Cheilitis (HP:0100825)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Palmoplantar pustulosis (HP:0100847)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Arthritis (HP:0001369)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO (OMIM:616106)
Gene: AP1S3
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO (OMIM:616106)
Gene: AP1S3
Phenotype: Erythroderma (HP:0001019)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Pustule (HP:0200039)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Pedal edema (HP:0010741)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Fever (HP:0001945)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Arthralgia (HP:0002829)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Overweight (HP:0025502)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Obesity (HP:0001513)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Fatigue (HP:0012378)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Hyponatremia (HP:0002902)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Uveitis (HP:0000554)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: AP1S3
Phenotype: Pain (HP:0012531)
Associated disease: GPP; Generalized pustular psoriasis (ORPHA:247353)
Gene: ZNF513
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: RETINITIS PIGMENTOSA 58 (OMIM:613617)
Gene: ZNF513
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 58 (OMIM:613617)
Gene: ZNF513
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Abnormal light- and dark-adapted electroretinogram (HP:0008323)
Associated disease: RETINITIS PIGMENTOSA 58 (OMIM:613617)
Gene: ZNF513
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 58 (OMIM:613617)
Gene: ZNF513
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Macular degeneration (HP:0000608)
Associated disease: RETINITIS PIGMENTOSA 58 (OMIM:613617)
Gene: ZNF513
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 58 (OMIM:613617)
Gene: ZNF513
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 58 (OMIM:613617)
Gene: ZNF513
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 58 (OMIM:613617)
Gene: ZNF513
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RETINITIS PIGMENTOSA 58 (OMIM:613617)
Gene: ZNF513
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 58 (OMIM:613617)
Gene: ZNF513
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ZNF513
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 58 (OMIM:613617)
Gene: ZNF513
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF513
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GALM
Phenotype: Sepsis (HP:0100806)
Associated disease: Galactose mutarotase deficiency; Galactosemia type 4; GALM deficiency (ORPHA:570422)
Gene: GALM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GALACTOSEMIA IV (OMIM:618881)
Gene: GALM
Phenotype: Cholestasis (HP:0001396)
Associated disease: Galactose mutarotase deficiency; Galactosemia type 4; GALM deficiency (ORPHA:570422)
Gene: GALM
Phenotype: Hypergalactosemia (HP:0012024)
Associated disease: Galactose mutarotase deficiency; Galactosemia type 4; GALM deficiency (ORPHA:570422)
Gene: GALM
Phenotype: Hypergalactosemia (HP:0012024)
Associated disease: GALACTOSEMIA IV (OMIM:618881)
Gene: GALM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALACTOSEMIA IV (OMIM:618881)
Gene: GALM
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Galactose mutarotase deficiency; Galactosemia type 4; GALM deficiency (ORPHA:570422)
Gene: GALM
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GALACTOSEMIA IV (OMIM:618881)
Gene: GALM
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Galactose mutarotase deficiency; Galactosemia type 4; GALM deficiency (ORPHA:570422)
Gene: GALM
Phenotype: Neonatal onset (HP:0003623)
Associated disease: GALACTOSEMIA IV (OMIM:618881)
Gene: GALM
Phenotype: Impairment of galactose metabolism (HP:0004915)
Associated disease: Galactose mutarotase deficiency; Galactosemia type 4; GALM deficiency (ORPHA:570422)
Gene: GALM
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Galactose mutarotase deficiency; Galactosemia type 4; GALM deficiency (ORPHA:570422)
Gene: GALM
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Galactose mutarotase deficiency; Galactosemia type 4; GALM deficiency (ORPHA:570422)
Gene: GALM
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Galactose mutarotase deficiency; Galactosemia type 4; GALM deficiency (ORPHA:570422)
Gene: GALM
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: GALACTOSEMIA IV (OMIM:618881)
Gene: GALM
Phenotype: Cataract (HP:0000518)
Associated disease: GALACTOSEMIA IV (OMIM:618881)
Gene: GALM
Phenotype: Cataract (HP:0000518)
Associated disease: Galactose mutarotase deficiency; Galactosemia type 4; GALM deficiency (ORPHA:570422)
Gene: M1AP
Phenotype: Spermatogenesis maturation arrest (HP:0031038)
Associated disease: SPERMATOGENIC FAILURE 48 (OMIM:619108)
Gene: M1AP
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE 48 (OMIM:619108)
Gene: M1AP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 48 (OMIM:619108)
Gene: M1AP
Phenotype: Adult onset (HP:0003581)
Associated disease: SPERMATOGENIC FAILURE 48 (OMIM:619108)
Gene: M1AP
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 48 (OMIM:619108)
Gene: M1AP
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 48 (OMIM:619108)
Gene: DNAJC19
Phenotype: Nonprogressive cerebellar ataxia (HP:0002470)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Seizure (HP:0001250)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Seizure (HP:0001250)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Ataxia (HP:0001251)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Ataxia (HP:0001251)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Perineal hypospadias (HP:0000051)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Hypospadias (HP:0000047)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Dystonia (HP:0001332)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Muscle weakness (HP:0001324)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Muscle weakness (HP:0001324)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: 3-Methylglutaric aciduria (HP:0003344)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)