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.