FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Fanconi anemia ID (Ontology) DOID:13636 (Human Disease)
Definition A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
Also Known As "Fanconi anaemia" ; "Fanconi pancytopenia" ; "Fanconi panmyelopathy" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 Fanconi anemia       2      2      1
 model of | Fanconi anemia       2       --       --
Spanning Tree (Parents/Children)
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physical disorder__
aplastic anemia____|
                   congenital hypoplastic anemia
                    |__Fanconi anemia  26 rec.
                        |__Fanconi anemia complementation group A
                        |__Fanconi anemia complementation group B
                        |__Fanconi anemia complementation group C
                        |__Fanconi anemia complementation group D1 1 rec.
                        |__Fanconi anemia complementation group D2 6 rec.
                        |__Fanconi anemia complementation group E
                        |__Fanconi anemia complementation group F
                        |__Fanconi anemia complementation group G
                        |__Fanconi anemia complementation group I 1 rec.
                        |__Fanconi anemia complementation group J 1 rec.
                        |__Fanconi anemia complementation group L 2 rec.
                        |__Fanconi anemia complementation group N
                        |__Fanconi anemia complementation group O 1 rec.
                        |__Fanconi anemia complementation group P 1 rec.
                        |__Fanconi anemia complementation group Q 1 rec.
                        |__Fanconi anemia complementation group R 1 rec.
                        |__Fanconi anemia complementation group S
                        |__Fanconi anemia complementation group T
                        |__Fanconi anemia complementation group U 1 rec.
                        |__Fanconi anemia complementation group V 1 rec.
                        |__Fanconi anemia complementation group W 6 rec.
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Is a congenital hypoplastic anemia
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Synonyms
  • "Fanconi anaemia" EXACT
    "Fanconi pancytopenia" EXACT
    "Fanconi panmyelopathy" EXACT
    "Fanconi's anaemia" EXACT
    "Fanconi's anemia" EXACT
Secondary IDs
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GARD:6425
ICD10CM:D61.09
MESH:D005199
MIM:PS227650
NCI:C62505
ORDO:84
SNOMEDCT_US_2023_03_01:30575002
UMLS_CUI:C0015625