TaoMedAI/RareMedData huggingface dataset:
Gene: IL17RC
Phenotype: Papule (HP:0200034)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Skin ulcer (HP:0200042)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Erythema (HP:0010783)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Cough (HP:0012735)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Childhood onset (HP:0011463)
Associated disease: CANDIDIASIS, FAMILIAL, 9 (OMIM:616445)
Gene: IL17RC
Phenotype: Hematuria (HP:0000790)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Pruritus (HP:0000989)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Skin rash (HP:0000988)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Onychomycosis (HP:0012203)
Associated disease: CANDIDIASIS, FAMILIAL, 9 (OMIM:616445)
Gene: IL17RC
Phenotype: Dyspareunia (HP:0030016)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: CANDIDIASIS, FAMILIAL, 9 (OMIM:616445)
Gene: IL17RC
Phenotype: Broad nail (HP:0001821)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: IL17RC
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: LMNB2
Phenotype: Tapered finger (HP:0001182)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Sporadic (HP:0003745)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Increased total lymphocyte count (HP:0100827)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Seizure (HP:0001250)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Interhemispheric cyst (HP:0032327)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Proteinuria (HP:0000093)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Micropenis (HP:0000054)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Microglossia (HP:0000171)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Frequent falls (HP:0002359)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Progressive (HP:0003676)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Hirsutism (HP:0001007)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Short thumb (HP:0009778)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Drooling (HP:0002307)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Loss of subcutaneous adipose tissue from upper limbs (HP:0009056)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Progressive loss of facial adipose tissue (HP:0009019)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Loss of truncal subcutaneous adipose tissue (HP:0009002)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Membranoproliferative glomerulonephritis (HP:0000793)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Hematuria (HP:0000790)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Myopathy (HP:0003198)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Action myoclonus (HP:0034360)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Gene: LMNB2
Phenotype: Short finger (HP:0009381)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Hip subluxation (HP:0030043)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Progressive cephalothoracic lipodystrophy; Barraquer-Simons syndrome; Acquired partial lipodystrophy (ORPHA:79087)
Gene: LMNB2
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Gene: LMNB2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: LMNB2
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Gene: ATP5MK
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Lethargy (HP:0001254)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Lethargy (HP:0001254)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 (OMIM:618683)
Gene: ATP5MK
Phenotype: Seizure (HP:0001250)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 (OMIM:618683)
Gene: ATP5MK
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Dysarthria (HP:0001260)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 (OMIM:618683)
Gene: ATP5MK
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 (OMIM:618683)
Gene: ATP5MK
Phenotype: Dystonia (HP:0001332)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 (OMIM:618683)
Gene: ATP5MK
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Bradykinesia (HP:0002067)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 (OMIM:618683)
Gene: ATP5MK
Phenotype: Chorea (HP:0002072)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 (OMIM:618683)
Gene: ATP5MK
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 (OMIM:618683)
Gene: ATP5MK
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 (OMIM:618683)
Gene: ATP5MK
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Short stature (HP:0004322)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Microcephaly (HP:0000252)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 (OMIM:618683)
Gene: ATP5MK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Cataract (HP:0000518)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: ATP5MK
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: RAX2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 95 (OMIM:620102)
Gene: RAX2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Macular atrophy (HP:0007401)
Associated disease: CONE-ROD DYSTROPHY 11 (OMIM:610381)
Gene: RAX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 95 (OMIM:620102)
Gene: RAX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONE-ROD DYSTROPHY 11 (OMIM:610381)
Gene: RAX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 95 (OMIM:620102)
Gene: RAX2
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Middle age onset (HP:0003596)
Associated disease: RETINITIS PIGMENTOSA 95 (OMIM:620102)
Gene: RAX2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RAX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RAX2
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY 11 (OMIM:610381)
Gene: RAX2
Phenotype: Macular degeneration (HP:0000608)
Associated disease: CONE-ROD DYSTROPHY 11 (OMIM:610381)