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alpha-mannosidosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0009561

Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. [ Orphanet:61 ]

Synonyms: Alpha-D-mannosidosis lysosomal alpha-D-mannosidase deficiency mannosidosis, alpha-, types I and II alpha-mannosidosis deficiency of alpha-mannosidase alpha-mannosidase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:61 (OMIM:248500)
  • UMLS:C0024748 (MONDO:equivalentTo)
  • MESH:D008363 (Orphanet:61/e)
  • SCTID:65524005 (MONDO:equivalentTo)
  • OMIM:248500 (Orphanet:61/e)
  • MEDGEN:7467 (MONDO:equivalentTo)
  • ICD9:271.8 (MONDO:relatedTo)
  • NANDO:1200126 (https://orcid.org/0000-0003-0011-764X)
  • NCIT:C84548 (MONDO:equivalentTo)
  • icd11.foundation:1944256516 (MONDO:equivalentTo)
  • GARD:6968 (MONDO:GARD)
  • DOID:3413 (MONDO:equivalentTo)
  • NORD:755 (MONDO:NORD)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, mondo_top_grouping_disorder_of_visual_system, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, nord_rare, clingen, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, harrisons_view_musculoskeletal_system_disorder, orphanet_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, harrisons_view_disorder_of_visual_system, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_orbital_region, harrisons_view_metabolic_disease

ClinGen label
alpha-mannosidosis [ https://omim.org/entry/248500 Orphanet:61 DOID:3413 NCIT:C84548 icd11.foundation:1944256516 ]

abbreviation
MANSA [ MONDO:Lexical ]

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0009561

exactMatch

http://purl.obolibrary.org/obo/DOID_3413

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1944256516

http://identifiers.org/mesh/D008363

http://purl.obolibrary.org/obo/NCIT_C84548

http://linkedlifedata.com/resource/umls/id/C0024748

http://www.orpha.net/ORDO/Orphanet_61

http://identifiers.org/medgen/7467

https://omim.org/entry/248500

http://identifiers.org/snomedct/65524005

has related synonym

Alpha-mannosidase B deficiency

MANSA

mannosidosis, alpha B lysosomal

mannosidosis, ALPHA B, lysosomal

Alpha mannosidase B deficiency

lysosomal Alpha-D-mannosidase deficiency

id

MONDO:0009561

seeAlso

https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis

term tracker item

https://github.com/monarch-initiative/mondo/issues/4521

https://github.com/monarch-initiative/mondo/issues/4948