ITCMDBv1
DiseaseID 15431

Mowat-Wilson综合征

disease

NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the ZEB2 gene. It is characterized by mental retardation, and a distinctive facial appearance (wide set eyes, uplifted earlobes, broad nasal bridge, p

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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: 1Herb: 2Symptom: 11Target: 17Links: 37
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Record Fields

Scalar fields from the final disease record.

Disease Id
15431
Core Entity Id
73364
Source Entity Count
1
Preferred Name
Mowat-Wilson Syndrome
Name Cn
Mowat-Wilson综合征
Name Pinyin
Mowat-wilson Zong He Zheng
Name En
Mowat-Wilson Syndrome
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Do Class
syndrome; genetic disease
Hpo Class
Mesh Class Name
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Hpo Class Name
Do Class Name
genetic disease; syndrome
Disease Definition
NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the ZEB2 gene. It is characterized by mental retardation, and a distinctive facial appearance (wide set eyes, uplifted earlobes, broad nasal bridge, prominent chin, and a smiling expression). The majority of patients have Hirschsprung disease (colonic enlargement and constipation due to intestinal blockage).
Version
v1,v2
Suppressed
No

Names

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

Name
Mowat-Wilson Syndrome
Role
preferred
Name
HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME
Role
alias
Name
MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
Role
alias
Name
MOWS
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS017259
Omim
235730
Umls
C1856113
Sym Map
SMDE00439
Do Class
DOID:225DOID:630
Dis Ge Net
C1856113
Umls Sty
T047
Me Sh Class
C05C06C10C16C23F01F03
Etcm Disease
Mowat-Wilson Syndrome
Tcmbank Disease
5096
Itcmdb Generated
ITX-DISEASE-0FBC584ACD4A

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Page Title
Disease Mowat-Wilson Syndrome Details page
Do Class Name
genetic disease; syndrome
Disease Type
disease
Do Disease Class
syndrome; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Mowat-Wilson Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the ZEB2 gene. It is characterized by mental retardation, and a distinctive facial appearance (wide set eyes, uplifted earlobes, broad nasal bridge, prominent chin, and a smiling expression). The majority of patients have Hirschsprung disease (colonic enlargement and constipation due to intestinal blockage).
Me Sh Disease Class
Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome