RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32. (DO)
Synonyms:
exact_synonym:
ALDD; CANDLE; JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY; NKJO; Nakajo-Nishimura syndrome; PRAAS1; autoinflammation, lipodystrophy, and dermatosis syndrome; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome; proteasome-associated autoinflammatory syndrome 1
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC