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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Eye Diseases (D005128)
Parent Node: Genetic Diseases, Inborn (D030342)
..Starting node ..Eye Diseases, Hereditary (D015785)
Child Nodes:
........Achromatopsia 4 (C564206)
........Achromatopsia 5 (C567759)
........Acrootoocular Syndrome (C564866)
........Aicardi Syndrome (D058540) 1
........Alacrima (C562827)
........Alacrima, Congenital (C566307)
........Albinism (D000417) 30
........Aniridia (D015783) 10
........Ataxia-Microcephaly-Cataract Syndrome (C563086)
........Basal Laminar Drusen (C563034)
........Bestrophinopathy (C567518)
........Bothnia Retinal Dystrophy (C564392)
........Cataract, Congenital Nuclear, Autosomal Recessive 1 (C563728)
........Cataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
........Cataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)
........Cataract, Floriform (C566160)
........Cataract, Pulverulent (C563426)
........Cavitary Optic Disc Anomalies (C566924)
........Cholestasis with Gallstone, Ataxia, and Visual Disturbance (C565856)
........Choroideremia (D015794) 2
........Congenital Fibrosis of the Extraocular Muscles (C580012)
........Cornea Plana 1 (C565158)
........Cornea Plana 2 (C565677)
........Corneal Dystrophies, Hereditary (D003317) 61
........CSNB1C (C567704)
........Drusen, Radial, Autosomal Dominant (C565088)
........Duane Retraction Syndrome (D004370) 2
........Enhanced S-Cone Syndrome (C564835)
........Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
........Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
........Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
........Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
........Fleck Retina, Familial Benign (C565564)
........Foveal Hypoplasia with Anterior Segment Anomalies (C565006)
........Foveal Hypoplasia, Isolated (C565005)
........Graves Ophthalmopathy (D049970)
........Grouped Pigmentation of the Macula (C565530)
........Gyrate Atrophy (D015799) 1
........Histiocytic Dermatoarthritis (C564183)
........Hyperopia, High (C565497)
........Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
........Iris Pigment Epithelium Anomalies (C566651)
........Joubert Syndrome 8 (C567358)
........Leber Congenital Amaurosis (D057130) 20
........Macular Dystrophy, X-Linked (C564110)
........Megalocornea (C562829)
........Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
........Mydriasis, Congenital (C563221)
........Night blindness, congenital stationary (C536122) 4
........Night Blindness, Congenital Stationary, Autosomal Dominant 1 (C566474)
........Night Blindness, Congenital Stationary, Autosomal Dominant 2 (C566869)
........Night Blindness, Congenital Stationary, Autosomal Dominant 3 (C566475)
........Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
........Ophthalmomandibulomelic Dysplasia (C563501)
........Optic Atrophies, Hereditary (D015418) 30
........Peripapillary Atrophy, Beta Type (C566898)
........Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
........Pigmented Paravenous Chorioretinal Atrophy (C566801)
........Prolonged Electroretinal Response Suppression (C564243)
........Pseudoglaucoma (C566748)
........Pseudopapilledema (C562401)
........Retinal Aplasia (C566720)
........Retinal Dysplasia (D015792) 2
........Retinal Dystrophy, Early Onset Severe (C565741)
........Retinitis Pigmentosa (D012174) 132
........Retinohepatoendocrinologic Syndrome (C564839)
........Rhegmatogenous Retinal Detachment, Autosomal Dominant (C563710)
........Spondyloocular Syndrome, Autosomal Recessive (C565285)
........Stickler Syndrome, Type I, Nonsyndromic Ocular (C563709)
........Vascular Hyalinosis (C564750)
........Vitelliform Macular Dystrophy (D057826) 2
........Vitreoretinochoroidopathy (C536352)
........Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
........Walker-Warburg Syndrome (D058494) 7
........Weill-Marchesani Syndrome (D056846)
........Weill-Marchesani-Like Syndrome (C567710)
Sister Nodes:
..ACTH Deficiency, Isolated (C562707)
..Adrenal Hyperplasia, Congenital (D000312) 12
..Adrenocortical Hypofunction, Chronic Primary Congenital (C562711)
..Alagille Syndrome (D016738)
..alpha 1-Antitrypsin Deficiency (D019896) 1
..Alpha-2-Deficient Collagen Disease (C565963)
..Anemia, Hemolytic, Congenital (D000745) 68
..Anemia, Hypoplastic, Congenital (D029502) 27
..Angioedemas, Hereditary (D054179) 2
..Ataxia Telangiectasia (D001260) 6
..Atrial Standstill (C563984)
..Autoimmune Lymphoproliferative Syndrome (D056735) 5
..Blood Coagulation Disorders, Inherited (D025861) 70
..Brugada Syndrome (D053840) 9
..CADASIL (D046589) 1
..Camurati-Engelmann Syndrome (D003966) 4
..Cardiomyopathy, Hypertrophic, Familial (D024741) 15
..Cerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..CHARGE Syndrome (D058747)
..Cherubism (D002636) 2
..Chromosome Disorders (D025063) 160
..Cirrhosis, Familial (C566123)
..Complement Factor I Deficiency (C572568)
..Corticosteroid-Binding Globulin Deficiency (C565152)
..Costello Syndrome (D056685)
..Cryoglobulinemia, Familial Mixed (C565141)
..Cystic Fibrosis (D003550) 4
..Donohue Syndrome (D056731) 1
..Dwarfism (D004392) 155
..Epistaxis, Hereditary (C562751)
..Eye Diseases, Hereditary (D015785) 373
..Frasier Syndrome (D052159)
..Genetic Diseases, X-Linked (D040181) 412
..Genetic Diseases, Y-Linked (D050174) 5
..Hajdu-Cheney Syndrome (D031845) 1
..Hemoglobinopathies (D006453) 23
..Hepatic Fibrosis, Congenital (C562378)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Heredodegenerative Disorders, Nervous System (D020271) 543
..Histiocytosis, Familial Lipochrome (C562738)
..Hyper-IgM Immunodeficiency Syndrome (D053306) 3
..Hyperthyroxinemia, Familial Dysalbuminemic (D050010) 1
..Interstitial Pneumonitis, Desquamative, Familial (C562470)
..Kallmann Syndrome (D017436) 9
..Kartagener Syndrome (D007619) 6
..Lennox Gastaut Syndrome (D065768) 1
..Loeys-Dietz Syndrome (D055947) 5
..Marfan Syndrome (D008382) 9
..Metabolism, Inborn Errors (D008661) 886
..Muscular Dystrophies (D009136) 117
..Myasthenic Syndromes, Congenital (D020294) 15
..Nail-Patella Syndrome (D009261) 1
..Neoplastic Syndromes, Hereditary (D009386) 111
..Neutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteogenesis Imperfecta (D010013) 27
..Pain Insensitivity, Congenital (D000699) 2
..Parotidomegaly, Hereditary Bilateral (C566821)
..Pelger-Huet Anomaly (D010381)
..Platelet Glycoprotein IV Deficiency (C564245)
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Prolactin Deficiency, Isolated (C562708)
..Pulmonary Alveolar Microlithiasis (C562405)
..Pycnodysostosis (D058631)
..Rh Deficiency Syndrome (C562717)
..Skin Diseases, Genetic (D012873) 462
..Weill-Marchesani Syndrome (D056846)
..Werner Syndrome (D014898) 1
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4049
Name:	Eye Diseases, Hereditary
Definition:	Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.
Alternative IDs:
ParentIDs:	MESH:D005128\|MESH:D030342
TreeNumbers:	C11.270 \|C16.320.290
Synonyms:	Disease, Hereditary Eye \|Diseases, Hereditary Eye \|Eye Disease, Hereditary \|Hereditary Eye Disease \|Hereditary Eye Diseases
Slim Mappings:	Eye disease\|Genetic disease (inborn)
Reference:	MedGen: D015785 MeSH: D015785 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants