DiseaseID 11220
维特沃综合征
disease
JABL99:Mental retardation with multiple congenital abnormalities consisting of craniofacial anomalies, delayed development, skeletal anomalies, urogenital anomalies, and deformed hands.
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Disease: 1Symptom: 7Target: 12Links: 19
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11220
- Core Entity Id
- 68583
- Source Entity Count
- 1
- Preferred Name
- Wittwer Syndrome
- Name Cn
- 维特沃综合征
- Name Pinyin
- Wei Te Wo Zong He Zheng
- Name En
- Wittwer 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 AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- JABL99:Mental retardation with multiple congenital abnormalities consisting of craniofacial anomalies, delayed development, skeletal anomalies, urogenital anomalies, and deformed hands.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Wittwer Syndrome
Role
preferred
Name
Pitt-Rogers-Danks Syndrome
Role
preferred
Name
Wolf-Hirschhorn Syndrome
Role
preferred
Name
Deletion of Short Arm of Chromosome 4
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS011695HBDIS018571HBDIS028600
Me Sh
D054877
Umls
C0796117C0796202C1956097
Icd10
Q93.3
Med Dra
10050361
Sym Map
SMDE01962SMDE14384
Do Class
DOID:630
Dis Ge Net
C0796117C0796202C1956097
Orphanet
280
Umls Sty
T047
Me Sh Class
C09C10C11C16C23
Tcmbank Disease
1938326576
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
JABL99:Mental retardation with multiple congenital abnormalities consisting of craniofacial anomalies, delayed development, skeletal anomalies, urogenital anomalies, and deformed hands.Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases
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