Alpha-mannosidosis

Definition

Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.

Also known as alpha-mannosidosis, lysosomal alpha-D-mannosidase deficiency, mannosidosis, alpha-, types I and II — per MONDO

Also identified as

• DOID 3413 per MONDO
• ICD9 271.8 per MONDO
• MESH D008363 per MONDO
• NCIT C84548 per MONDO
• OMIM 248500 per MONDO
• Orphanet 61 per MONDO
• SCTID 65524005 per MONDO
• UMLS C0024748 per MONDO