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Diseases

Enchondromatosis

enchondromatosis

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Enchondromatosis
Standard Disease Name
enchondromatosis
MeSH Tree
No data
ICD-10
Q78.4

Identifiers

DO ID
No data
MeSH ID
D004687
OMIM ID
166000
UMLS ID
C0013366|C0014084|C0014084
HPO ID
No data

Description and Extensions

Description
Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the lo
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
03
IDH1
isocitrate dehydrogenase (NADP(+)) 1
isocitrate dehydrogenase (NADP(+)) 1
04
IDH2
isocitrate dehydrogenase (NADP(+)) 2
isocitrate dehydrogenase (NADP(+)) 2
08
PTPN11
protein tyrosine phosphatase non-receptor type 11
protein tyrosine phosphatase non-receptor type 11