DiseaseID 28032
先天性假性脑积水性早老综合征
Congenital Pseudohydrocephalic Progeroid Syndrome
NCI2016_02D:A rare autosomal recessive disorder associated with abnormalities in bone maturation, and lipids and hormone metabolism and characterized by intrauterine growth retardation, failure to thrive, short stature,
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Disease: 1Symptom: 5Target: 1Links: 6
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 28032
- Core Entity Id
- 120600
- Source Entity Count
- 1
- Preferred Name
- Congenital Pseudohydrocephalic Progeroid Syndrome
- Name Cn
- 先天性假性脑积水性早老综合征
- Name Pinyin
- Xian Tian Xing Jia Xing Nao Ji Shui Xing Zao Lao Zong He Zheng
- Name En
- Congenital Pseudohydrocephalic Progeroid 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 rare autosomal recessive disorder associated with abnormalities in bone maturation, and lipids and hormone metabolism and characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, variable mental impairment, and death in childhood. Its cause is unknown.|JABL99:A syndrome characterized mainly by low birth weight and length, pseudohydrocephaly, small progeroid facies, widely open cranial sutures, and the presence of the incisor teeth at birth. Psychomotor development is severely delayed.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Congenital Pseudohydrocephalic Progeroid Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0406586
Sym Map
SMDE07485
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Definition
NCI2016_02D:A rare autosomal recessive disorder associated with abnormalities in bone maturation, and lipids and hormone metabolism and characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, variable mental impairment, and death in childhood. Its cause is unknown.|JABL99:A syndrome characterized mainly by low birth weight and length, pseudohydrocephaly, small progeroid facies, widely open cranial sutures, and the presence of the incisor teeth at birth. Psychomotor development is severely delayed.