mucolipidosis type IV

mucolipidosis type IV

http://purl.obolibrary.org/obo/MONDO_0009653

A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. [ Orphanet:578 ]

Synonyms: mucolipidosis type IV mucolipidosis type 4 MLIV ML IV

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This is just here as a test because I lose it

Term information

database cross reference

OMIM:252650 (Orphanet:578/e)
UMLS:C0238286 (Orphanet:578/e)
GTR:AN1125032
GTR:AN1125033
GARD:94 (Orphanet:578)
GTR:AN1148743
DOID:0080490 (MONDO:equivalentTo)
GTR:AN1124590
SCTID:111384001 (MONDO:equivalentTo)
NCIT:C84896 (MONDO:equivalentTo)
NORD:1460 (MONDO:NORD)
Orphanet:578 (OMIM:252650)

Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C0238286

http://identifiers.org/snomedct/111384001

https://omim.org/entry/252650

http://www.orpha.net/ORDO/Orphanet_578

http://purl.obolibrary.org/obo/NCIT_C84896

http://purl.obolibrary.org/obo/DOID_0080490

has related synonym

Berman syndrome

ML4

sialolipidosis

ML 4

mucolipidosis IV

ganglioside neuraminidase deficiency

mucolipidosis 4

ganglioside sialidase deficiency

MONDO:0009653

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009653

Term relations

Subclass of: