has material basis in germline mutation in SMPD1 eye disorder autosomal recessive disease Niemann-Pick disease type A https://github.com/monarch-initiative/mondo/issues/4984 https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/niemann_pick_disease_type_a NCIT:C126561 MONDO:0009756 ICD10CM:E75.240 MESH:D052536 DOID:0070111 icd11.foundation:530611243 NANDO:1200061 GARD:0007206 NANDO:2201206 OMIM:257200 SCTID:52165006 MEDGEN:78650 Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders. UMLS:C0268242 Orphanet:77292 acid sphingomyelinase deficiency