MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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anemia (disease) (MONDO:0002280)
Parent Node:
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congenital hematological disorder (MONDO:0009332)
..Starting node
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congenital anemia ()

       Child Nodes:
........expandabetalipoproteinemia ()
........expandalpha thalassemia-intellectual disability syndrome type 1 ()
........expandalpha thalassemia-X-linked intellectual disability syndrome ()
........expandAlport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome ()
........expandchromosome 5q deletion syndrome ()
........expandDiamond-Blackfan anemia ()
........expanddyskeratosis congenita ()
........expandFanconi anemia ()
........expandHb Bart's hydrops fetalis ()
........expandlethal hemolytic anemia-genital anomalies syndrome ()
........expandmitochondrial myopathy and sideroblastic anemia ()
........expandpancreatic insufficiency-anemia-hyperostosis syndrome ()
........expandPearson syndrome ()  LSDB  L: 00169;
........expandsideroblastic anemia 3 ()
........expandthiamine-responsive megaloblastic anemia syndrome ()
........expandX-linked sideroblastic anemia with ataxia ()



 Sister 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 ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:577
Name:congenital anemia
Definition:Anemia, the cause of which is present at birth.
Alternative IDs:
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Synonyms:congenital anemia; congenital anemia (disease)
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
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Disease Causing ClinVar Variants
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