01
ARHGEF2
No data
- Entity Type
- Diseases
- Relation Groups
- 2
- Relation Preview
- 16
Basic Information
Grouped by core information, identifiers, and descriptions.
Quick relations do not expand inferred candidates by default. Load path-derived ingredients or herbs when needed.
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.