Osseous Heteroplasia, Progressive (POH)

Osseous Heteroplasia, Progressive(来自ICD-11)
别称:
Progressive Osseous Heteroplasia
Poh
Osteoma Cutis
Familial Ectopic Ossification
Ectopic Ossification Familial Type
Heterotopic Ossification
Ectopic Ossification
Fibrodysplasia Ossificans Progressiva
Heteroplasia, Osseous, Progressive
Myositis Ossificans Progressiva
Ectopic Ossification, Familial
Ossification Heterotopic
Cutaneous Ossification
Osteosis Cutis
Osteodermia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osseous Heteroplasia, Progressive, also known as progressive osseous heteroplasia, is related to myositis ossificans and ossification of the posterior longitudinal ligament of spine, and has symptoms including polydipsia and muscle weakness. An important gene associated with Osseous Heteroplasia, Progressive is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Signal Transduction and ADORA2B mediated anti-inflammatory cytokines production. The drugs Etoricoxib and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are subcutaneous nodule and limitation of joint mobility
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相关ID:
MESH:C562735
ICD11:1107209347

基础信息

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参考文献
MALACARDS
AD
Infant
--
22
229
21

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MGI
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