DiseaseID 17685

华沙破裂综合征

disease

SNOMEDCT_US_2016_09_01:A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have d

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Relationship Network

Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.

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Disease: 1Symptom: 3Target: 12Links: 15
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Record Fields

Scalar fields from the final disease record.

Disease Id
17685
Core Entity Id
75960
Source Entity Count
1
Preferred Name
Warsaw Breakage Syndrome
Name Cn
华沙破裂综合征
Name Pinyin
Hua Sha Po Lie Zong He Zheng
Name En
Warsaw Breakage Syndrome
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Do Class
syndrome; genetic disease
Hpo Class
Mesh Class Name
Hpo Class Name
Do Class Name
genetic disease; syndrome
Disease Definition
SNOMEDCT_US_2016_09_01:A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations
Version
v1,v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Warsaw Breakage Syndrome
Role
preferred
Name
WABS
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS020651
Omim
613398
Umls
C3150658
Sym Map
SMDE02486
Do Class
DOID:225DOID:630
Dis Ge Net
C3150658
Umls Sty
T047
Tcmbank Disease
7170

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Do Class Name
genetic disease; syndrome
Disease Type
disease
Do Disease Class
syndrome; genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
SNOMEDCT_US_2016_09_01:A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations
Dis Ge Net Disease Type
disease
Umls Semantic Type Name
Disease or Syndrome