Disease Browser
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Parent Node:
Corneal Dystrophies, Hereditary (D003317) | ..Starting node .. Corneal dystrophy Avellino type (C535474)
| Child Nodes:
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Sister 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 Franč½ois (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)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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Term ID: | 3008 |
Name: | Corneal dystrophy Avellino type |
Definition: | |
Alternative IDs: | DO:DOID:0060444|OMIM:607541 |
ParentIDs: | MESH:D003317 |
TreeNumbers: | C11.204.236/C535474 |C11.270.162/C535474 |C16.320.290.162/C535474 |
Synonyms: | ACD |Avellino corneal dystrophy |CDA |CGD2 |Combined granular-lattice corneal dystrophies |Combined Granular-Lattice Corneal Dystrophy |Corneal Dystrophy, Avellino Type |Granular and lattice corneal dystrophies |Granular corneal dystrophy type 2 |Granular Corneal |
Slim Mappings: | Eye disease|Genetic disease (inborn) |
Reference: |
MedGen: C535474
MeSH: C535474
OMIM: 607541; MSeqDR : Genes: CCDC50; TGFBI; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000358.3(TGFBI):c.371G>A (p.Arg124His) | 7045 | TGFBI | Pathogenic | rs121909211 | RCV000008318|RCV001543464|RCV001807721; | N | MONDO:MONDO:0011855,MedGen:C1275685,OMIM:607541, Orphanet:98963|MedGen:CN517202|MONDO:MONDO:0007380,MedGen:C1690006,OMIM:122200, Orphanet:98964 | 5 | 135382096 | 135382096 | | | 5:g.135382096G>A | ClinGen:CA119122,UniProtKB:Q15582#VAR_005077,OMIM:601692.0004 | C1275685 607541 Avellino corneal dystrophy; | | NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu) | 7045 | TGFBI | Pathogenic | rs121909211 | RCV000008321|RCV000995667; | N | MONDO:MONDO:0012043,MedGen:C0339278,OMIM:608470, Orphanet:98961|MONDO:MONDO:0011855,MedGen:C1275685,OMIM:607541, Orphanet:98963 | 5 | 135382096 | 135382096 | | | 5:g.135382096G>T | ClinGen:CA119124,UniProtKB:Q15582#VAR_005078,OMIM:601692.0007 | C0339278 608470 Reis-Bucklers' corneal dystrophy; | |
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