Issues · OD4RD/Main-Help-Desk · GitHub

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Add a synonym to ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome

#489

· Orphanet-ES opened

on Apr 9, 2026

EBSTEIN-BEZIEAU NEURODEVELOPMENTAL SYNDROME – absence of corresponding ORPHAcode

#488

· Orphabe opened

on Apr 9, 2026

New ORPHAcode for SMART syndrome

#487

· Orphanet-ES opened

on Apr 8, 2026

Request for new entity: tailgut cyst

#486

· OrphanetDE opened

on Apr 2, 2026

Classification of Familial Mediterranean Fever

Classification issue

#485

· Orphabe opened

on Mar 27, 2026

Clarification on classification of systemic diseases with cutaneous involvement: Sarcoidosis, Cutaneous small vessel vasculitis

Classification issue

#484

· Orphabe opened

on Mar 27, 2026

Orphanet nomenclature pack released date

#483

· JAston1 opened

on Mar 24, 2026

Creation of an ORPHAcode for RYBP-related neurodevelopmental disorder

#482

· Orphanet-ES opened

on Mar 23, 2026

Empty nose syndrome

#481

· galyea123 opened

on Mar 20, 2026

New synonym for ORPHA:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

#480

· Orphanet-ES opened

on Mar 20, 2026

Familial hypertrophic cardiomyopathy (MYBPC3) – appropriate ORPHAcode?

#479

· Orphabe opened

on Mar 17, 2026

Request to add Progestogen Hypersensitivity

#478

· galyea123 opened

on Mar 16, 2026