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:2531
Name:CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB
Definition:
Alternative IDs:
ParentIDs:MESH:D002872|MESH:D004827|MESH:D007859|MESH:D008607
TreeNumbers:C10.228.140.490/613729 |C10.597.606.150.550/613729 |C10.597.606.360/613729 |C23.550.210.050.500.500/613729 |C23.888.592.604.150.550/613729 |C23.888.592.604.646/613729 |F03.625.539/613729 |F03.625.562/613729
Synonyms:DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
Slim Mappings:Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: 613729
MeSH: 613729
OMIM: 613729;
MSeqDR LSDB:  
Genes: AF8T; MRPS22;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal