has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of disease has feature MAN2B1 alpha-mannosidase activity metabolic disease eye disorder alpha-mannosidosis https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis https://www.malacards.org/card/mannosidosis_alpha_b_lysosomal NANDO:1200126 ICD9:271.8 DOID:3413 Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. MANSA alpha-mannosidosis GARD:0006968 mannosidosis, ALPHA B, lysosomal OMIM:248500 MONDO:0009561 icd11.foundation:1944256516 MEDGEN:7467 SCTID:65524005 MESH:D008363 mannosidosis, alpha-, types I and II lysosomal alpha-D-mannosidase deficiency NCIT:C84548 Alpha mannosidase B deficiency UMLS:C0024748 mannosidosis, alpha B lysosomal Orphanet:61 NORD:755 oligosaccharidosis lysosomal storage disease with skeletal involvement