DiseaseID 1956
皱皮综合征
disease
JABL99:A syndrome characterized mainly by wrinkling of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increase in the number of palmar and plantar creases, craniofacial anomalies,
Relationship Network
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Disease: 1Symptom: 2Target: 2Links: 4
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 1956
- Core Entity Id
- 2200
- Source Entity Count
- 1
- Preferred Name
- Wrinkly Skin Syndrome
- Name Cn
- 皱皮综合征
- Name Pinyin
- Zhou Pi Zong He Zheng
- Name En
- Wrinkly Skin Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:A syndrome characterized mainly by wrinkling of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increase in the number of palmar and plantar creases, craniofacial anomalies, multiple musculoskeletal abnormalities, microcephaly, and mental retardation.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Wrinkly Skin Syndrome
Role
preferred
Name
WSS
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS028498
Omim
278250
Umls
C0406587
Sym Map
SMDE00817
Dis Ge Net
C0406587
Umls Sty
T047
Me Sh Class
C16C17
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Umls Disease Type
Disease or Syndrome
Disease Definition
JABL99:A syndrome characterized mainly by wrinkling of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increase in the number of palmar and plantar creases, craniofacial anomalies, multiple musculoskeletal abnormalities, microcephaly, and mental retardation.
Me Sh Disease Class
Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease