has material basis in germline mutation in MANBA beta-mannosidosis https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/mannosidosis_beta_a_lysosomal beta-mannosidase deficiency UMLS:C4048196 MEDGEN:888408 SCTID:238047006 MESH:D044905 mannosidosis, beta lysosomal beta-mannosidase deficiency MANSB NCIT:C84596 OMIM:248510 Orphanet:118 Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. beta-mannosidosis Beta-mannosidase deficiency NANDO:2201190 ICD9:271.8 GARD:0000869 icd11.foundation:1578707401 mannosidosis, BETA A, lysosomal NANDO:1200129 DOID:3633 MONDO:0009562 oligosaccharidosis hereditary peripheral neuropathy lysosomal storage disease with skeletal involvement