Primary Aldosteronism, Seizures, and Neurologic Abnormalities

Preferred Label : Primary Aldosteronism, Seizures, and Neurologic Abnormalities;

NCIt synonyms : PASNA;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the CACNA1D gene, encoding voltage-dependent L-type calcium channel subunit alpha-1D. It is characterized by primary hyperaldosteronism, seizures, and neurologic defects.;

Details

Origin ID

C188151;

UMLS CUI

C3809609;

Currated CISMeF NLP mapping
- Primary aldosteronism, seizures, and neurologic abnormalities [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary aldosteronism, seizures, and neurologic abnormalities [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CACNA1D Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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