DiseaseID 26322
透明纤维瘤病综合征
Hyaline Fibromatosis Syndrome
NCI2016_02D:A non-neoplastic connective and soft tissue disorder that usually affects infants. It is characterized by the deposition of extracellular hyaline material in the skin, soft tissues and bones. This results in
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Disease: 1Formula: 11Symptom: 5Target: 19Links: 40
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26322
- Core Entity Id
- 118890
- Source Entity Count
- 1
- Preferred Name
- Hyaline Fibromatosis Syndrome
- Name Cn
- 透明纤维瘤病综合征
- Name Pinyin
- Tou Ming Xian Wei Liu Bing Zong He Zheng
- Name En
- Hyaline Fibromatosis Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A non-neoplastic connective and soft tissue disorder that usually affects infants. It is characterized by the deposition of extracellular hyaline material in the skin, soft tissues and bones. This results in the development of tumor-like masses. Surgical excision is the treatment of choice, however, local recurrences are common.|MSH2017_2016_08_12:Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hyaline Fibromatosis Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C2745948
Sym Map
SMDE02962
Etcm Disease
Hyaline Fibromatosis Syndrome
Itcmdb Generated
ITX-DISEASE-8B036C9E833F
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Hyaline Fibromatosis Syndrome Details page
Basic Information
Disease Name
Hyaline Fibromatosis Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Oral diseases;Skin diseases
Disease Definition
NCI2016_02D:A non-neoplastic connective and soft tissue disorder that usually affects infants. It is characterized by the deposition of extracellular hyaline material in the skin, soft tissues and bones. This results in the development of tumor-like masses. Surgical excision is the treatment of choice, however, local recurrences are common.|MSH2017_2016_08_12:Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.