disease has basis in dysfunction of disease has feature NEU1 congenital nervous system disorder nephrosis sialidosis type 2 DOID:3343 GARD:0007183 ICD10:E77.1 MESH:C562606 ML 1 ML1 MONDO:0009738 NCIT:C125596 NEU 1 deficiency NEU1 sialidosis Neu deficiency Neu1 deficiency Neug deficiency OMIM:256150 OMIM:256550 Orphanet:87876 SCTID:52186006 SCTID:81896006 See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 Sialidosis type 2 (ST-2) is 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. UMLS:C0268232 UMLS:C3888317 UMLS:CN206285 cherry Red spot--myoclonus syndrome dysmorphic sialidosis dysmorphic sialidosis with renal involvement glycoprotein neuraminidase deficiency glycoproteinosis infantile dysmorphic sialidosis lipomucopolysaccharidosis mucolipidosis 1 mucolipidosis I mucolipidosis type 1 mucolipidosis type I myoclonus--cherry Red spot syndrome nephrosialidosis neuraminidase 1 deficiency neuraminidase deficiency sialidase deficiency sialidosis sialidosis caused by mutation in NEU1 sialidosis type II sialidosis, type 1 sialidosis, type 2 sialidosis, type II multiple congenital anomalies/dysmorphic syndrome-intellectual disability syndromic neurometabolic disease with non-X-linked intellectual disability sialidosis lysosomal storage disease with skeletal involvement nephropathy secondary to a storage or other metabolic disease metabolic disease with cataract genetic multiple congenital anomalies/dysmorphic syndrome