DiseaseID 7248
Pallister-Killian综合征
disease
NCI2016_02D:A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks
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Disease: 1Symptom: 2Target: 5Links: 7
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7248
- Core Entity Id
- 64016
- Source Entity Count
- 1
- Preferred Name
- Pallister-Killian Syndrome
- Name Cn
- Pallister-Killian综合征
- Name Pinyin
- Pallister-killian Zong He Zheng
- Name En
- Pallister-Killian Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin.|JABL99:Tetrasomy of the short arm of chromosome 12 associated with craniofacial abnormalities with coarse facies, growth and mental deficiency, slow growing hair, and other abnormalities. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Pallister-Killian Syndrome
Role
preferred
Name
Pallister Killian Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS005836
Omim
601803
Umls
C0265449
Sym Map
SMDE11828
Dis Ge Net
C0265449
Umls Sty
T047
Me Sh Class
C16
Tcmbank Disease
30918
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin.|JABL99:Tetrasomy of the short arm of chromosome 12 associated with craniofacial abnormalities with coarse facies, growth and mental deficiency, slow growing hair, and other abnormalities. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Umls Semantic Type Name
Disease or Syndrome