MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Corneal Diseases (D003316)
Parent Node: Eye Diseases, Hereditary (D015785)
..Starting node ..Corneal Dystrophies, Hereditary (D003317)
Child Nodes:
........Bietti Crystalline Dystrophy (C535440)
........Brachymesomelia renal syndrome (C537096)
........Chorioretinal atrophy, progressive bifocal (C535356)
........Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
........Corneal cerebellar syndrome (C535472)
........Corneal Degeneration, Ribbonlike, with Deafness (C565157)
........Corneal dystrophy and perceptive deafness (C535473)
........Corneal dystrophy Avellino type (C535474)
........Corneal dystrophy of Bowman layer, type 1 (C535476)
........Corneal Dystrophy, Band-Shaped (C562399)
........Corneal Dystrophy, Central Type (C563262)
........Corneal Dystrophy, Congenital Stromal (C566452)
........Corneal Dystrophy, Crystalline, of Schnyder (C535475)
........Corneal Dystrophy, Endothelial, X-Linked (C567587)
........Corneal Dystrophy, Fleck (C563256)
........Corneal dystrophy, gelatinous drop-like (C535480)
........Corneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
........Corneal Dystrophy, Lattice Type IIIA (C563923)
........Corneal Dystrophy, Lisch Epithelial (C567588)
........Corneal Dystrophy, Posterior Amorphous (C567546)
........Corneal Dystrophy, Posterior Polymorphous, 1 (C562745)
........Corneal Dystrophy, Posterior Polymorphous, 2 (C565176)
........Corneal Dystrophy, Posterior Polymorphous, 3 (C563788)
........Corneal Dystrophy, Subepithelial Mucinous (C567547)
........Corneal dystrophy, Thiel-Behnke type (C535942)
........Corneal Endothelial Dystrophy 1 (C565156)
........Corneal endothelial dystrophy type 2 (C536439)
........Corneodermatoosseous syndrome (C536444)
........Dermochondrocorneal dystrophy of Fran莽ois (C535375)
........EDICT SYNDROME (OMIM:614303)
........Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
........Epithelial Recurrent Erosion Dystrophy (C565155)
........Fuchs' Endothelial Dystrophy (D005642) 10
........Groenouw type I corneal dystrophy (C537304)
........Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
........Judge Misch Wright syndrome (C537692)
........Kuster Majewski Hammerstein syndrome (C538125)
........Lattice corneal dystrophy type 1 (C537881)
........Macular Corneal Dystrophy, Type II (C563270)
........Macular dystrophy, corneal type 1 (C537834)
........Macular Dystrophy, Fenestrated Sheen Type (C563607)
........Macular dystrophy, retinal, 1, North Carolina type (C537835)
........Macular Dystrophy, Retinal, 2 (C562746)
........Meretoja syndrome (C537459)
........MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
........Mousa Al din Al Nassar syndrome (C536989)
........O'Donnell Pappas syndrome (C537858)
........Oculodental syndrome Rutherfurd syndrome (C537732)
........Pseudoinflammatory fundus dystrophy, Finnish type (C535828)
........Sammartino De Crecchio Syndrome (C537229)
........Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
........Sveinsson Chorioretinal Atrophy (C566236)
Sister 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)
..ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
..ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
..Axenfeld-Rieger syndrome (C535679) 3
..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
..Coloboma (D003103) 43
..Cone Dystrophy (D000077765)
..Cone-Rod Dystrophies (D000071700)
..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)
..Familial Exudative Vitreoretinopathy (C580083)
..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)
..FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 (OMIM:616219)
..Fleck Retina, Familial Benign (C565564)
..Foveal Hypoplasia with Anterior Segment Anomalies (C565006)
..Foveal Hypoplasia, Isolated (C565005)
..Glaucoma 1, Open Angle, P (C566748)
..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)
..Oguchi disease (C537743)
..Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
..Ophthalmomandibulomelic Dysplasia (C563501)
..Optic Atrophies, Hereditary (D015418) 30 C:5
..Peripapillary Atrophy, Beta Type (C566898)
..Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..Pigmented Paravenous Chorioretinal Atrophy (C566801)
..Prolonged Electroretinal Response Suppression (C564243)
..Pseudopapilledema (C562401)
..Retinal Aplasia (C566720)
..Retinal Degeneration (D012162) 195 C:2
..Retinal Dysplasia (D015792) 2
..Retinal Dystrophy, Early Onset Severe (C565741)
..Retinitis Pigmentosa (D012174) 132 C:2
..Retinoblastoma (D012175) 2
..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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3006
Name:	Corneal Dystrophies, Hereditary
Definition:	Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.
Alternative IDs:	DO:DOID:12318\|DO:DOID:2565\|DO:DOID:2566
ParentIDs:	MESH:D003316\|MESH:D015785
TreeNumbers:	C11.204.236 \|C11.270.162 \|C16.320.290.162
Synonyms:	Corneal Dystrophy, Hereditary \|Corneal Granular Dystrophies \|Corneal Granular Dystrophy \|Corneal Macular Dystrophies \|Corneal Macular Dystrophy \|Corneal Stromal Dystrophies \|Corneal Stromal Dystrophy \|Dystrophies, Corneal Granular \|Dystrophies, Corneal Macular \|D
Slim Mappings:	Eye disease\|Genetic disease (inborn)
Reference:	MedGen: D003317 MeSH: D003317 OMIM: MSeqDR : Genes: P2RX2;
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