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