Allan-Herndon-Dudley syndrome

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Allan-Herndon-Dudley syndrome" OR "MCT8 deficiency" OR "Monocarboxylate transporter 8 deficiency" OR "X-linked intellectual disability-hypotonia syndrome" OR "ALLAN-Herndon syndrome" OR "MCT8-Specific Thyroid Hormone Cell Transporter Deficiency" OR "MCT8-specific thyroid hormone cell Membrane transporter deficiency"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Allan-Herndon-Dudley syndrome" OR "MCT8 deficiency" OR "Monocarboxylate transporter 8 deficiency" OR "X-linked intellectual disability-hypotonia syndrome" OR "ALLAN-Herndon syndrome" OR "MCT8-Specific Thyroid Hormone Cell Transporter Deficiency" OR "MCT8-specific thyroid hormone cell Membrane transporter deficiency" OR "SLC16A2"

Recall-expansion terms: SLC16A2

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 5 observational · 2 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: AHDS

Confidence reasoning

• Preferred label is multi-word and distinctive
• 1 synonym(s) dropped by stoplist (may under-count)
• No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:16:26.166Z