01
CEP290
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 7
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Mohr-Claussen Syndrome
- Standard Disease Name
- mohr-claussen syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D009958
- OMIM ID
- 252100
- UMLS ID
- C0026363
- HPO ID
- No data
Description and Extensions
- Description
- JABL99:A syndrome consisting mainly of orofacial and digital defects, including microcephaly, lingual defects, median cleft of the upper lip, and bony changes of the hands and feet. Psychomotor retardation has been reported in some cases.
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