TaoMedAI/RareMedData huggingface dataset:
Gene: TIMM8A
Phenotype: Focal dystonia (HP:0004373)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Personality changes (HP:0000751)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Dementia (HP:0000726)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Childhood onset (HP:0011463)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Absent brainstem auditory responses (HP:0004463)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Prelingual sensorineural hearing impairment (HP:0000399)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Visual impairment (HP:0000505)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Visual impairment (HP:0000505)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: TIMM8A
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Visual loss (HP:0000572)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Color vision defect (HP:0000551)
Associated disease: Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome; Mohr-Tranebjaerg syndrome; DDON syndrome (ORPHA:52368)
Gene: TIMM8A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMM8A
Phenotype: Myopia (HP:0000545)
Associated disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Gene: GSDME
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 5 (OMIM:600994)
Gene: GSDME
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 5 (OMIM:600994)
Gene: COCH
Phenotype: Postlingual sensorineural hearing impairment (HP:0008596)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 9 (OMIM:601369)
Gene: COCH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 110 (OMIM:618094)
Gene: COCH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 9 (OMIM:601369)
Gene: COCH
Phenotype: Abnormal vestibulocochlear nerve morphology (HP:0009591)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 9 (OMIM:601369)
Gene: COCH
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 110 (OMIM:618094)
Gene: COCH
Phenotype: Progressive (HP:0003676)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 9 (OMIM:601369)
Gene: COCH
Phenotype: Vertigo (HP:0002321)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 9 (OMIM:601369)
Gene: COCH
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 9 (OMIM:601369)
Gene: COCH
Phenotype: Cochlear degeneration (HP:0005102)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 9 (OMIM:601369)
Gene: COCH
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 9 (OMIM:601369)
Gene: COCH
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 110 (OMIM:618094)
Gene: COCH
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 110 (OMIM:618094)
Gene: DGUOK
Phenotype: Limb-girdle muscle atrophy (HP:0003797)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Adult onset sensorineural hearing impairment (HP:0008615)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Ataxia (HP:0001251)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Hepatic failure (HP:0001399)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC (OMIM:617068)
Gene: DGUOK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Asthenia (HP:0025406)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Portal hypertension (HP:0001409)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC (OMIM:617068)
Gene: DGUOK
Phenotype: Portal hypertension (HP:0001409)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Hepatocellular necrosis (HP:0001404)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Myalgia (HP:0003326)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Dysphagia (HP:0002015)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Dysphagia (HP:0002015)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Hypothermia (HP:0002045)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Esophageal varix (HP:0002040)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC (OMIM:617068)
Gene: DGUOK
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Middle age onset (HP:0003596)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC (OMIM:617068)
Gene: DGUOK
Phenotype: Late onset (HP:0003584)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Viral infection-induced rhabdomyolysis (HP:0003558)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Depression (HP:0000716)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Dementia (HP:0000726)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Dementia (HP:0000726)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Young adult onset (HP:0011462)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Jaundice (HP:0000952)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Ascites (HP:0001541)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Growth delay (HP:0001510)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Depletion of mitochondrial DNA in liver (HP:0006581)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Dysphonia (HP:0001618)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Dysphonia (HP:0001618)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC (OMIM:617068)
Gene: DGUOK
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Strabismus (HP:0000486)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC (OMIM:617068)
Gene: DGUOK
Phenotype: Cataract (HP:0000518)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Ptosis (HP:0000508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)
Gene: DGUOK
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (ORPHA:329314)
Gene: DGUOK
Phenotype: Abnormal conjugate eye movement (HP:0000549)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DGUOK
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
Gene: DHCR7
Phenotype: Split hand (HP:0001171)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Brachydactyly (HP:0001156)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Septate vagina (HP:0001153)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Hypertonia (HP:0001276)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)
Gene: DHCR7
Phenotype: Hypertonia (HP:0001276)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SMITH-LEMLI-OPITZ SYNDROME (OMIM:270400)
Gene: DHCR7
Phenotype: Seizure (HP:0001250)
Associated disease: RSH syndrome; SLOS; 7-dehydrocholesterol reductase deficiency; Smith-Lemli-Opitz syndrome (ORPHA:818)