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Core Information
Disease Name
Dermatitis
Standard Disease Name
dermatitis
MeSH Tree
No data
ICD-10
Q78.2
Identifiers
DO ID
No data
MeSH ID
D010022
OMIM ID
No data
UMLS ID
C0029454
HPO ID
No data
Description and Extensions
Description
NCI2016_02D:A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis.|MSH2017_2016_08_12:Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).|HPO2016_07_04:Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. [HPO:probinson]|CSP2006:excessive formation of dense trabecular bone leading to pathological fractures, osteitis, splenomegaly with infarct, anemia, and extramedullary hemopoiesis.
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