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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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NTR: Neurodevelopmental disorder with poor growth and behavioral abnormalities #1306

Closed MonikaTomczuk closed 3 months ago

MonikaTomczuk commented 3 months ago

Hi, https://pubmed.ncbi.nlm.nih.gov/36604604/ is the paper that has a mouse model of the disorder reported in the paper that we would like to associate with a DO term. Not a whole lot of information on this new disorder.

Label: Neurodevelopmental disorder with poor growth and behavioral abnormalities Definition: A neurodevelopmental disorder characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 10q13. Definition ref: https://pubmed.ncbi.nlm.nih.gov/34379057/ and https://pubmed.ncbi.nlm.nih.gov/36604604/ Parent DO: 0060038 specific developmental disorder ? and DOID:0050737 autosomal recessive disease ? DbXref: OMIM:620242

Thank you, Monika Tomczuk MGI Scientific Curator ORCID:0009-0005-7755-8314

allenbaron commented 3 months ago

I'll review this and add the disease after TAGC. Thanks Monika!

lschriml commented 3 months ago

added: DOID:0081444