Statements (53)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:affects |
quality of life
any bone in the body |
| gptkbp:can_lead_to |
chronic pain
bone deformities fractures due to bone weakness |
| gptkbp:caused_by |
mutations in the ID H1 or ID H2 genes
psychosocial issues due to appearance |
| gptkbp:descendant |
an autosomal dominant pattern
|
| gptkbp:exhibits |
pain in affected areas
|
| gptkbp:first_described_by |
Aldo Maffucci
|
| gptkbp:focuses_on |
genetic studies
|
| gptkbp:has_achievements |
malignant transformation of enchondromas
|
| https://www.w3.org/2000/01/rdf-schema#label |
Maffucci syndrome
|
| gptkbp:is_associated_with |
vascular malformations
increased risk of certain cancers skeletal abnormalities other syndromes abnormal blood vessels |
| gptkbp:is_characterized_by |
asymmetrical growth of bones
multiple enchondromas soft tissue hemangiomas |
| gptkbp:is_documented_in |
gptkb:academic_journal
|
| gptkbp:is_essential_for |
early diagnosis and intervention
understanding genetic disorders. |
| gptkbp:is_involved_in |
neurological complications
|
| gptkbp:is_linked_to |
IDH mutations
|
| gptkbp:is_monitored_by |
tumor development
|
| gptkbp:is_often_associated_with |
childhood or early adulthood
|
| gptkbp:is_often_depicted_as |
Ollier disease
|
| gptkbp:is_often_used_in |
females than males
|
| gptkbp:is_part_of |
the spectrum of enchondromatosis
|
| gptkbp:is_recognized_by |
the presence of hemangiomas and enchondromas
the presence of multiple tumors |
| gptkbp:is_related_to |
vascular tumors
|
| gptkbp:is_studied_in |
medical genetics
|
| gptkbp:is_used_for |
swelling in soft tissues
|
| gptkbp:lifespan |
gptkb:theorem
|
| gptkbp:managed_by |
oncologists and orthopedic surgeons
|
| gptkbp:manages |
gptkb:theorem
|
| gptkbp:rarity |
gptkb:theorem
|
| gptkbp:requires |
genetic counseling
regular monitoring for malignancies |
| gptkbp:scientific_classification |
hereditary multiple exostoses
|
| gptkbp:social_responsibility |
imaging studies
clinical evaluation |
| gptkbp:subject |
clinical research
|
| gptkbp:symptoms |
hemangiomas
enchondromas |
| gptkbp:treatment |
pain management strategies
surgical removal of tumors |
| gptkbp:bfsParent |
gptkb:Proteus_syndrome
|
| gptkbp:bfsLayer |
5
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