MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
expandcongenital anemia (MONDO:0000577)
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expandDNA repair disease (MONDO:0021190)
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expanddysostosis of genetic origin with limb anomaly as a major feature (MONDO:0018455)
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expandhematological disorder with renal involvement (MONDO:0019747)
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expandhyperpigmentation of the skin (MONDO:0019289)
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expandinherited aplastic anemia (MONDO:0001713)
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expandpolymalformative genetic syndrome with increased risk of developing cancer (MONDO:0015945)
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expandsyndrome with limb reduction defects (MONDO:0017432)
..Starting node
..expandFanconi anemia ()

       Child Nodes:
........expandFanconi anemia complementation group A ()
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........expandFanconi anemia complementation group D1 ()
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........expandFanconi anemia complementation group L ()
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........expandFanconi anemia complementation group U ()
........expandFanconi anemia complementation group v ()
........expandFanconi anemia, complementation group S ()
........expandfanconi anemia, complementation group W ()



 Sister Nodes: 
..expandabsence deformity of leg-cataract syndrome ()
..expandabsent radius-anogenital anomalies syndrome ()
..expandabsent tibia-polydactyly syndrome ()
..expandabsent tibia-polydactyly-arachnoid cyst syndrome ()
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..expandaphalangy-syndactyly-microcephaly syndrome ()
..expandautosomal recessive amelia ()
..expandcamptodactyly syndrome, Guadalajara type 2 ()
..expandCornelia de Lange syndrome ()
..expandDuane-radial ray syndrome ()
..expandEEC syndrome ()
..expandEEM syndrome ()
..expandFanconi anemia ()
..expandfemoral-facial syndrome ()
..expandfibular aplasia-tibial campomelia-oligosyndactyly syndrome ()
..expandfibular hypoplasia and complex brachydactyly ()
..expandFuhrmann syndrome ()
..expandGollop-Wolfgang complex ()
..expandhereditary thrombocytosis with transverse limb defect ()
..expandHolt-Oram syndrome ()
..expandhumerus trochlea aplasia ()
..expandhypoglossia-hypodactyly syndrome ()
..expandintellectual disability-spasticity-ectrodactyly syndrome ()
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..expandKarsch-Neugebauer syndrome ()
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..expandlimb transversal defect-cardiac anomaly syndrome ()
..expandlimb-mammary syndrome ()
..expandmammary-digital-nail syndrome ()
..expandomphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ()
..expandpelvis-shoulder dysplasia ()
..expandpelviscapular dysplasia ()
..expandphocomelia, Schinzel type ()
..expandphocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome ()
..expandpostaxial tetramelic oligodactyly ()
..expandradio-renal syndrome ()
..expandrapadilino syndrome ()
..expandRoberts syndrome ()
..expandshoulder and thorax deformity-congenital heart disease syndrome ()
..expandsplenogonadal fusion-limb defects-micrognathia syndrome ()
..expandsplit hand-foot malformation 1 with sensorineural hearing loss ()
..expandsplit-foot malformation-mesoaxial polydactyly syndrome ()
..expandtetraamelia-multiple malformations syndrome ()
..expandtetramelic monodactyly ()
..expandthalidomide embryopathy ()
..expandthrombocytopenia-absent radius syndrome ()
..expandtibial aplasia-ectrodactyly syndrome ()
..expandulna hypoplasia-intellectual disability syndrome ()
..expandulnar-mammary syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19391
Name:Fanconi anemia
Definition:Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
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Synonyms:Fanconi pancytopenia; Fanconi panmyelopathy; Fanconi's anemia; pancytopenia, congenital; Panmyelopathy, Fanconi; primary erythroid hypoplasia
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal