01
SEC24D
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
- Cole-Carpenter Syndrome 2
- Standard Disease Name
- cole-carpenter syndrome 2
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C536354
- OMIM ID
- 150260|308850
- UMLS ID
- C0396059
- HPO ID
- No data
Description and Extensions
- Description
- JABL99:Laryngeal abductor paralysis with inspiratory stridor, swallowing difficulty, asphyxia, and mental deficiency. Adductor laryngeal paralysis (OMIM 150270) is a variant in which hoarseness from birth appears to be the only symptom. Terms familial vocal cord dysfunction and laryngeal abductor paralysis are also used as the synonyms for the Plott syndrome which is transmitted as an X-linked trait.|JABL99:Congenital abductor paralysis in association with mental deficiency, inspiratory stridor, cyanosis, blank facial expression, speech and swallowing difficulty, and hypotonia. Respiratory distress may cause brain damage. Terms familial vocal cord dysfunction and laryngeal abductor paralysis are also used as synonyms for the Gerhardt syndrome.
Related
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Related Targets
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