DiseaseID 17524
5p单体
disease
Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, m
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Disease: 1Target: 10Links: 10
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 17524
- Core Entity Id
- 75770
- Source Entity Count
- 1
- Preferred Name
- Monosomy 5P
- Name Cn
- 5p单体
- Name Pinyin
- 5p Dan Ti
- Name En
- Monosomy 5P
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Cell or Molecular Dysfunction
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, m
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Monosomy 5P
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS020376
Umls
C0010314C2931860
Med Dra
10011385
Sym Map
SMDE02219
Dis Ge Net
C2931860
Orphanet
281
Umls Sty
T049
Me Sh Class
C10C16
Tcmbank Disease
29150
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Type
disease
Umls Disease Type
Cell or Molecular Dysfunction
Disease Definition
Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, m
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Cell or Molecular Dysfunction