TaoMedAI/RareMedData huggingface dataset:
Gene: TTC8
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Photophobia (HP:0000613)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Macular degeneration (HP:0000608)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Gene: TTC8
Phenotype: Pallor (HP:0000980)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Brachycephaly (HP:0000248)
Associated disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Gene: TTC8
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Gene: TTC8
Phenotype: Obesity (HP:0001513)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Gene: TTC8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: High myopia (HP:0011003)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Gene: TTC8
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Gene: TTC8
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TTC8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TTC8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTC8
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC24A4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 (OMIM:615887)
Gene: SLC24A4
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 (OMIM:615887)
Gene: SLC24A4
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 (OMIM:615887)
Gene: SLC24A4
Phenotype: Carious teeth (HP:0000670)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 (OMIM:615887)
Gene: SLC24A4
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 (OMIM:615887)
Gene: SLC24A4
Phenotype: Childhood onset (HP:0011463)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 (OMIM:615887)
Gene: MTFMT
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (OMIM:618248)
Gene: MTFMT
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Ataxia (HP:0001251)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (OMIM:618248)
Gene: MTFMT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (OMIM:618248)
Gene: MTFMT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (OMIM:618248)
Gene: MTFMT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (OMIM:618248)
Gene: MTFMT
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (OMIM:618248)
Gene: MTFMT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (OMIM:618248)
Gene: MTFMT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Tremor (HP:0001337)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (OMIM:618248)
Gene: MTFMT
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (OMIM:618248)
Gene: MTFMT
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Unsteady gait (HP:0002317)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Small hand (HP:0200055)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Incoordination (HP:0002311)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Nystagmus (HP:0000639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (OMIM:618248)
Gene: MTFMT
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Short stature (HP:0004322)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Sleep terror (HP:0030765)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Hypertension (HP:0000822)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Obesity (HP:0001513)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Shortened PR interval (HP:0005165)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Strabismus (HP:0000486)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: MTFMT
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (OMIM:618248)
Gene: MTFMT
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)
Gene: SLC51B
Phenotype: Steatorrhea (HP:0002570)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Copper accumulation in liver (HP:0025321)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Decreased circulating chenodeoxycholic acid concentration (HP:0034048)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: SLC51B
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Gene: NIPA1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: NIPA1
Phenotype: Motor delay (HP:0001270)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: NIPA1
Phenotype: Seizure (HP:0001250)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Ataxia (HP:0001251)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: NIPA1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Gene: NIPA1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Limited hip movement (HP:0008800)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: NIPA1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Gene: NIPA1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Gene: NIPA1
Phenotype: Tremor (HP:0001337)
Associated disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)