has material basis in germline mutation in CTSA eye disorder galactosialidosis https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis https://www.malacards.org/card/galactosialidosis NANDO:1200119 icd11.foundation:1838660035 A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. ICD9:277.6 GSL cathepsin A deficiency of NANDO:2200557 Goldberg syndrome DOID:0080540 MONDO:0009737 OMIM:256540 Orphanet:351 SCTID:35691006 neuraminidase deficiency with beta-galactosidase deficiency GARD:0003953 lysosomal protective protein deficiency of MESH:C536411 galactosialidosis MEDGEN:82779 UMLS:C0268233 NCIT:C129928 oligosaccharidosis lysosomal storage disease with skeletal involvement