Search results

Request for new term TTN-related myopathy, dominant-negative TTNsv

New term request

Status: Open.

#9969 In monarch-initiative/mondo;

· justyneross opened on Feb 23, 2026

RNU12 - related minor spliceopathy disorder

New term request

Status: Open.

#9963 In monarch-initiative/mondo;

· vgitau opened on Feb 20, 2026

New Term Request: STAT5 Haploinsufficiency

GARD

New term request

Status: Open.

#9961 In monarch-initiative/mondo;

· matentzn opened on Feb 20, 2026

New Term Request: Pacak-Zhuang syndrome

GARD

New term request

Status: Open.

#9960 In monarch-initiative/mondo;

· matentzn opened on Feb 20, 2026

Nemaline myopathy: missing is_a for intermediate NM + problematic OMIM-to-Orphanet severity cross-classification via btnt

Status: Open.

#9959 In monarch-initiative/mondo;

· cmungall opened on Feb 20, 2026

xref for ICD-10-CM to MONDO:0014035 needs review and update

synonym

xref

Status: Open.

#9957 In monarch-initiative/mondo;

· sagehrke opened on Feb 19, 2026

New Term Request/TSEN2-related neurodevelopmental disorder with or without thrombotic microangiopathy

New term request

user requestA request from an external userA request from an external user

Status: Open.

#9956 In monarch-initiative/mondo;

· jratliff1234 opened on Feb 18, 2026

Design gene tracker tracking file

Status: Open.

#9953 In monarch-initiative/mondo;

· matentzn opened on Feb 18, 2026

Obsolete stroke-related "finding" terms

Status: Open.

#9952 In monarch-initiative/mondo;

· MeeSiing opened on Feb 18, 2026

EFL1-related Shwachman-Diamond syndrome

New term request

user requestA request from an external userA request from an external user

Status: Open.

#9940 In monarch-initiative/mondo;

· keparis opened on Feb 12, 2026

request to relabel MONDO:0012277

relabel term

user requestA request from an external userA request from an external user

Status: Open.

#9938 In monarch-initiative/mondo;

· clauseMDM opened on Feb 11, 2026

NTR/KY

New term request

user requestA request from an external userA request from an external user

Status: Open.

#9937 In monarch-initiative/mondo;

· clauseMDM opened on Feb 11, 2026