GenTIGSA Gene Database on Rare Genetic Disorders
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Maffucci Syndrome  
Disease Aliases (16)

Chondrodysplasia with hemangioma

Chondroplasia angiomatosis

Dyschondrodysplasia with hemangiomas

Dyschondroplasia and cavernous hemangioma

Enchondromatosis type ii (former)

Enchondromatosis with multiple cavernous hemangiomas

Enchondromatosis with hemangiomata

Hemangiomatosis chondrodystrophica

Kast syndrome

Maffucci syndrome

Multiple enchondromatosis, maffucci type

Maffucci's anomalad

Maffucci's syndrome

Multiple angiomas and endochondromas

Syndrome, maffucci

Hemangiomata with dyschondroplasia

Associated Genes (2)
 

NCBI-RefSeq:  IDH2   (Isocitrate dehydrogenase (NADP(+)) 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IDH1   (Isocitrate dehydrogenase (NADP(+)) 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Maffucci syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations