01
TFAP2A
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 1
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Branchiooculofacial Syndrome
- Standard Disease Name
- branchiooculofacial syndrome
- MeSH Tree
- No data
- ICD-10
- Q18.8
Identifiers
- DO ID
- No data
- MeSH ID
- D019280
- OMIM ID
- 113620
- UMLS ID
- C0376524
- HPO ID
- No data
Description and Extensions
- Description
- JABL99:A syndrome of branchial cleft, pseudocleft of the upper lip, nasolacrimal duct obstruction, characteristic facies, and premature senility. Associated anomalies include malformed ears and nose, sinuses and/or linear skin lesions behind the ears, microphthalmia, coloboma, highly arched palate, dental anomalies, subcutaneous cysts of the scalp, premature graying of the hair, delayed growth and variable retarded mental development and hand anomalies.
Related
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Related Targets
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