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Treatment for Rett

Status: Open.

#85 In monarch-initiative/maxo-annotations;

· pnrobinson opened on Jun 6, 2026

Should subtypes of Bardet-Biedl have the same treatments

Status: Open.

#78 In monarch-initiative/maxo-annotations;

· cmungall opened on Aug 14, 2024

Added Maxo term monoamine-depleting agent annootate Woodhouse-Sakati syndrome

Status: Open.

#51 In monarch-initiative/maxo-annotations;

· LCCarmody opened on Jul 22, 2024

fluid restriction recommendation annotation MIM:300539

Status: Open.

#50 In monarch-initiative/maxo-annotations;

· LCCarmody opened on Jul 22, 2024

high fat diet annotation needed for MIM:607196

Status: Open.

#49 In monarch-initiative/maxo-annotations;

· LCCarmody opened on Jul 22, 2024

Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor

for curation

Status: Open.

#48 In monarch-initiative/maxo-annotations;

· pnrobinson opened on Jul 22, 2024

Tetrabenazin

Status: Open.

#76 In monarch-initiative/maxo-annotations;

· pnrobinson opened on Jul 20, 2024

FETAL CELL TRANSPLANTATION

Status: Open.

#66 In monarch-initiative/maxo-annotations;

· pnrobinson opened on Jul 20, 2024

Monoamin-Transporter-2-Inhibitor therapy

Status: Open.

#75 In monarch-initiative/maxo-annotations;

· pnrobinson opened on Jul 20, 2024

annotation to Osteoporosis-pseudoglioma syndrome (OMIM:259770)

Status: Open.

#47 In monarch-initiative/maxo-annotations;

· LCCarmody opened on Jul 19, 2024

Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition

for curation

Status: Open.

#46 In monarch-initiative/maxo-annotations;

· pnrobinson opened on Jul 19, 2024

Carbonic anhydrase inhibitor agent therapy

bugSomething isn't workingSomething isn't working

Status: Open.

#74 In monarch-initiative/maxo-annotations;

· pnrobinson opened on May 25, 2024