Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317) ..Starting node .. Groenouw type I corneal dystrophy (C537304) Child Nodes:
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) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM ,ClinVar , CTD
Term ID: 5282
Name: Groenouw type I corneal dystrophy
Definition:
Alternative IDs: OMIM:121900
ParentIDs: MESH:D003317
TreeNumbers: C11.204.236/C537304 |C11.270.162/C537304 |C16.320.290.162/C537304
Synonyms: CDGG1 |Corneal dystrophy granular type |CORNEAL DYSTROPHY, GROENOUW TYPE I |Corneal dystrophy punctate or nodular |Corneal Dystrophy, Punctate or Nodular |GCD1 |Granular Corneal Dystrophy, Type I
Slim Mappings: Eye disease|Genetic disease (inborn)
Reference:
MedGen: C537304
MeSH: C537304
OMIM: 121900 ; MSeqDR : Genes: 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.370C>A (p.Arg124Ser) 7045 TGFBI Pathogenic rs121909210 RCV000008322|RCV002466396 ; N MONDO:MONDO:0007377,MedGen:C1641846,OMIM:121900, Orphanet:98962|MONDO:MONDO:0000764,MedGen:CN322643 5 135382095 135382095 5:g.135382095C>A ClinGen:CA119125,UniProtKB:Q15582#VAR_012444,OMIM:601692.0008 C1641846 121900 Groenouw corneal dystrophy type I; NM_000358.3(TGFBI):c.1631A>G (p.Asn544Ser) 7045 TGFBI Uncertain significance rs777288957 RCV000490305|RCV001152421 ; N MONDO:MONDO:0007377,MedGen:C1641846,OMIM:121900, Orphanet:98962; MONDO:MONDO:0012044,MedGen:C1837974,OMIM:608471, Orphanet:98964|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533 5 135392437 135392437 NC_000005.9:g.135392437A>G ClinGen:CA3420472 C1641846 121900 Groenouw corneal dystrophy type I; NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) 7045 TGFBI Pathogenic rs121909208 RCV000008315|RCV002227439|RCV002288474 ; N MONDO:MONDO:0007377,MedGen:C1641846,OMIM:121900, Orphanet:98962|7 conditions|MONDO:MONDO:0007380,MedGen:C1690006,OMIM:122200, Orphanet:98964 5 135392469 135392469 5:g.135392469C>T ClinGen:CA119119,UniProtKB:Q15582#VAR_005083,OMIM:601692.0001 C1641846 121900 Groenouw corneal dystrophy type I; NM_000358.3(TGFBI):c.1855A>G (p.Met619Val) 7045 TGFBI Likely pathogenic -1 RCV001807998 ; N MONDO:MONDO:0007377,MedGen:C1641846,OMIM:121900, Orphanet:98962 5 135396574 135396574 135396574 -
MSeqDR Portal