DiseaseID 14838
Waardenburg综合征4A型
disease
SNOMEDCT_US_2016_09_01:The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white sk
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Disease: 1Symptom: 4Target: 12Links: 16
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 14838
- Core Entity Id
- 72687
- Source Entity Count
- 1
- Preferred Name
- Waardenburg Syndrome, Type 4A
- Name Cn
- Waardenburg综合征4A型
- Name Pinyin
- Waardenburg Zong He Zheng 4a Xing
- Name En
- Waardenburg Syndrome, Type 4A
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- SNOMEDCT_US_2016_09_01:The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white skin patches and pigmentary anomalies of the irides) in association with intestinal obstruction. Neurosensorial deafness is common and early, and may be unilateral. Psychomotor development is normal. Three disease-causing genes have been identified so far: EDNRB (13q22.3) encoding the endothelin-B receptor, EDN3 (20q13.32) encoding an endothelin receptor ligand and SOX10 (22q13.1) encoding the SOX10 transcription factor.|NCI2016_02D:A rare, autosomal dominant or autosomal recessive syndrome caused by mutations in the SOX10, EDN3, or EDNRB genes. It is characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Waardenburg Syndrome, Type 4A
Role
preferred
Name
Waardenburg Syndrome Type 4A
Role
alias
Name
Waardenburg Syndrome, Type 4
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS016465
Omim
277580
Sym Map
SMDE03366
Do Class
DOID:630
Dis Ge Net
C1848519
Umls Sty
T047
Me Sh Class
C06C16
Tcmbank Disease
29379
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
SNOMEDCT_US_2016_09_01:The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white skin patches and pigmentary anomalies of the irides) in association with intestinal obstruction. Neurosensorial deafness is common and early, and may be unilateral. Psychomotor development is normal. Three disease-causing genes have been identified so far: EDNRB (13q22.3) encoding the endothelin-B receptor, EDN3 (20q13.32) encoding an endothelin receptor ligand and SOX10 (22q13.1) encoding the SOX10 transcription factor.|NCI2016_02D:A rare, autosomal dominant or autosomal recessive syndrome caused by mutations in the SOX10, EDN3, or EDNRB genes. It is characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease.
Me Sh Disease Class
Digestive System Diseases; 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; Digestive System Diseases
Umls Semantic Type Name
Disease or Syndrome