eye disorder sialidosis type 2 https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/9285 https://github.com/monarch-initiative/mondo/issues/9602 https://www.malacards.org/card/glycoproteinosis https://www.malacards.org/card/nephrosialidosis https://www.malacards.org/card/neuraminidase_deficiency icd11.foundation:1855856697 DOID:3343 NEU 1 deficiency nephrosialidosis mucolipidosis type 1 NCIT:C125596 dysmorphic sialidosis sialidosis type II sialidosis caused by mutation in NEU1 NANDO:1200118 NANDO:1200120 ML1 A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. MESH:C562606 sialidosis, type 2 infantile dysmorphic sialidosis OMIM:256550 OMIM:256150 NEU1 sialidosis Orphanet:87876 sialidosis sialidosis, type I SCTID:81896006 UMLS:C4282398 MEDGEN:924303 NANDO:2201192 NANDO:2201193 sialidosis, type II dysmorphic sialidosis with renal involvement SCTID:52186006 MONDO:0009738 mucolipidosis I GARD:0007183 multiple congenital anomalies/dysmorphic syndrome-intellectual disability sialidosis obsolete nephropathy secondary to a storage or other metabolic disease familial mucolipidosis lysosomal storage disease with skeletal involvement sialidosis type II