Victoria Jenkins, PhD

review of autosomal dominant non-syndromic intellectual disability 7, DOID:0070037

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**Is your request related to a specific disease? Please describe.** autosomal dominant non-syndromic intellectual disability 7, DOID:0070037 **Describe the proposed** This disease caused by an autosomal dominant mutation in DYRK1A...

New Term Request: Nicolaides-Baraitser syndrome

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I'd like to request a term for Nicolaides-Baraitser syndrome. OMIM: https://omim.org/entry/601358. The gene is also associated with blepharophimosis-impaired intellectual development syndrome (https://omim.org/entry/619293), which is not in DO either. Potential definition:...

New Term Request: Halperin-Birk syndrome

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I'd like to request a term for Halperin-Birk syndrome. There is only one report of this syndrome, so if that’s not enough to merit a DO term yet, please let...

New Term Request: Peroxisome biogenesis disorder 9B

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I'd like to request a term for peroxisome biogenesis disorder 9B. There is another condition associated with this gene that is already in DO, rhizomelic chondrodysplasia punctata type 1. PEX7...

New Term Request: Microcephaly, short stature, and limb abnormalities

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I'd like to request a term for microcephaly, short stature, and limb abnormalities. OMIM: https://omim.org/entry/617604. DONSON is also associated with a more severe phenotype, https://www.omim.org/entry/251230 Microcephaly-micromelia syndrome. Potential definition: Microcephaly,...

Update definitions to use official gene symbols

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For the Alzheimer's disease 1 entry, [DOID:0080348](https://disease-ontology.org/term/DOID%3A0080348/), the definition is: An Alzheimer's disease that has_material_basis_in mutation in the gene encoding the amyloid precursor protein on chromosome 21q. This is a...

New Term Request: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities --OR-- KDM6B-related neurodevelopmental disorder [name TBD]

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I'd like to request a term for neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities --OR-- KDM6B-related neurodevelopmental disorder [name TBD]. OMIM named this disorder based on the...

New feature suggestions

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Hi DO, I often want to search DO terms by associated "has_material_basis_in" a gene. There are a few things that get in the way of this: 1) I need to...

Allow comma in search term

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When searching for a DOID term by name with a comma in it, the search does not allow commas as approved text, despite how many DOIDs have commas in them:...

New Term Request: 3-hydroxyisobutryl-CoA hydrolase deficiency

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I'd like to request a term for 3-hydroxyisobutryl-CoA hydrolase deficiency. OMIM: https://omim.org/entry/246900 Potential definition: Dihydrolipoamide dehydrogenase deficiency has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32....