Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients. [ Orphanet:423461 http://www.ncbi.nlm.nih.gov/pubmed/6461005 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:65764006 (MONDO:equivalentTo)
  • OMIM:252600 (Orphanet:577)
  • UMLS:CN237499 (MONDO:equivalentTo)
  • Orphanet:577 (OMIM:252600)
  • Orphanet:423461 (OMIM:252600)
  • GARD:0003806 (MONDO:equivalentTo)
  • ICD10:E77.0 (Orphanet:577)
  • DOID:0080071 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, ordo_clinical_subtype

abbreviation
ML3 [ GARD:0003806 ]

abbreviation
MLIII

closeMatch

http://linkedlifedata.com/resource/umls/id/C0033788

http://linkedlifedata.com/resource/umls/id/C2673375

definition

Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

exactMatch

http://www.orpha.net/ORDO/Orphanet_577

http://identifiers.org/snomedct/65764006

http://purl.obolibrary.org/obo/DOID_0080071

http://identifiers.org/omim/252600

http://linkedlifedata.com/resource/umls/id/CN237499

http://www.orpha.net/ORDO/Orphanet_423461

has broad synonym

ML3

ML 3

mucolipidosis 3

mucolipidosis III

has exact synonym

ML 3 alpha/beta

MLIII

ML III alpha/beta

pseudo-Hurler polydystrophy

mucolipidosis type 3 alpha/beta

has related synonym

ML 3 A

ML 3 Alpha/Beta

mucolipidosis type 3A

mucolipidosis 3 Alpha/Beta

mucolipidosis III ALPHA/BETA

mucolipidosis 3A

mucolipidosis 3 Alpha/Beta, atypical

mucolipidosis type III alpha/beta

id

MONDO:0018931

seeAlso

https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta