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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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Request for new synonym Complex neurodevelopmental disorder with or without aldosteronism #7999

Closed Jciesielka1 closed 16 hours ago

Jciesielka1 commented 2 months ago

Mondo term

0014200: Aldosterone-producing adenoma with seizures and neurological abnormalities

Synonyms

Complex neurodevelopmental disorder with or without aldosteronism

Synonym type

None

Additional comments

Please add the following definition for this term: An autosomal dominant neurodevelopmental condition related to variants in CACNA1D. Most reported variants are de novo and functional studies have indicated a gain-of-function disease mechanism (PMIDs: 23913001, 37122292). This condition is characterized by developmental delay/intellectual disability, autism spectrum disorder, hypotonia and seizures (PMIDs: 32666275, 37122292). Other reported features include endocrine abnormalities such as primary aldosteronism and congenital hyperinsulinemic hypoglycemia, self-injurious behavior, facial dysmorphisms, and heart defects.

ErinRiggs commented 2 weeks ago

Hello - just checking on the status of this request?