MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandcorneal dystrophy (disease) (MONDO:0018102)
..Starting node
..expandsyndromic corneal dystrophy ()

       Child Nodes:
........expandChandler syndrome ()
........expandcongenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ()
........expandcorneal dystrophy-perceptive deafness syndrome ()
........expandcorneal-cerebellar syndrome ()
........expandde Barsy syndrome ()
........expanddermochondrocorneal dystrophy ()
........expandFinnish type amyloidosis ()
........expandGoldenhar syndrome ()
........expandhereditary benign intraepithelial dyskeratosis ()
........expandJudge Misch wright syndrome ()
........expandMietens syndrome ()
........expandoculodental syndrome, Rutherfurd type ()
........expandophthalmomandibulomelic dysplasia ()
........expandspastic ataxia-corneal dystrophy syndrome ()
........expandStern-Lubinsky-Durrie syndrome ()
........expandsubaortic stenosis-short stature syndrome ()
........expandsyndromic recessive X-linked ichthyosis ()
........expandTELO2-related intellectual disability-neurodevelopmental disorder ()
........expandX-linked corneal dermoid ()
........expandX-linked reticulate pigmentary disorder ()



 Sister Nodes: 
..expandautosomal dominant keratitis ()
..expandband keratopathy ()
..expandcorneal endothelial dystrophy ()
..expandepithelial and subepithelial corneal dystrophy ()
..expandepithelial-stromal TGFBI dystrophy ()
..expandmacular dystrophy, fenestrated sheen type ()
..expandposterior corneal dystrophy ()
..expandstromal corneal dystrophy ()
..expandsuperficial corneal dystrophy ()
..expandsyndromic corneal dystrophy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:20215
Name:syndromic corneal dystrophy
Definition:A corneal dystrophy (disease) that is part of a larger syndrome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:syndrome associated with corneal dystrophy (disease); syndrome associated with corneal dystrophy (disease); syndromic corneal dystrophy (disease)
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal