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:
expandhematologic disease (MONDO:0005570)
..Starting node
..expandcongenital hematological disorder ()

       Child Nodes:
........expand14q32 duplication syndrome ()
........expandBloom syndrome ()
........expandcongenital agammaglobulinemia ()
........expandcongenital anemia ()
........expandconstitutional neutropenia ()
........expanddeafness-lymphedema-leukemia syndrome ()
........expanddiaph1-related sensorineural hearing loss-thrombocytopenia syndrome ()
........expandEhlers-Danlos syndrome, fibronectinemic type ()
........expandhereditary thrombocytosis with transverse limb defect ()
........expandJacobsen syndrome ()
........expandmacrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome ()
........expandParis-Trousseau thrombocytopenia ()
........expandradio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ()
........expandrenal tubular acidosis, distal, autosomal recessive ()
........expandthrombocytopenia-absent radius syndrome ()



 Sister Nodes: 
..expandacidosis disorder ()
..expandanemia (disease) ()
..expandautoimmune disease of blood ()
..expandblood coagulation disease ()
..expandblood group incompatibility ()
..expandblood platelet disease ()
..expandblood protein disease ()
..expandbone marrow disease ()
..expandcongenital hematological disorder ()
..expanderythrocyte disease ()
..expandhematological disease associated with an acquired peripheral neuropathy ()
..expandhematopoietic and lymphoid system neoplasm ()
..expandhemorrhagic disease ()
..expandhyperamylasemia ()
..expandleukocyte disease ()
..expandmonoclonal gammopathy ()
..expandparasitemia ()
..expandpremalignant hematological system disease ()
..expandrare hematologic disease ()
..expandsepticemic plague ()
..expandsplenic disease ()
..expandsystemic mastocytosis with associated clonal hematological non-mast-cell lineage disease ()
..expandthymus gland disease ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9332
Name:congenital hematological disorder
Definition:A disorder of the blood that is present at birth.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:congenital hematological disorder; congenital hematological system disease
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal