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
Term ID:2884
Name:Congenital Corneal Opacities, Cornea Guttata, and Corectopia
Definition:
Alternative IDs:
ParentIDs:MESH:D003317|MESH:D011681
TreeNumbers:C10.597.690/C563921 |C11.204.236/C563921 |C11.270.162/C563921 |C11.710/C563921 |C16.320.290.162/C563921 |C23.888.592.708/C563921
Synonyms:Corneal Opacities, Congenital, with Cornea Guttata and Corectopia
Slim Mappings:Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms
Reference: MedGen: C563921
MeSH: C563921
OMIM:
MSeqDR LSDB:  
Genes: CD96;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal