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[X] peroxisomal disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0019053

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia. [ NCIT:C85005 https://clinicalgenome.org/affiliation/40049/ ]

Synonyms: disorder of peroxisomal function peroxisomal function disorder peroxisomal disease peroxisomal disorder

This is just here as a test because I lose it

Term information

database cross reference
  • icd11.foundation:782299726 (https://orcid.org/0000-0001-5208-3432)
  • SCTID:238059005 (MONDO:equivalentTo)
  • ICD9:277.86 (MONDO:i2s)
  • NANDO:1200758 (https://orcid.org/0000-0003-0011-764X)
  • MEDGEN:129185 (MONDO:equivalentTo)
  • UMLS:C0282528 (MONDO:equivalentTo)
  • ICD9:277.89 (MONDO:relatedTo)
  • GARD:18885 (MONDO:GARD)
  • DOID:906 (MONDO:equivalentTo)
  • NCIT:C85005 (MONDO:equivalentTo)
  • Orphanet:68373 (MONDO:equivalentTo)
  • NANDO:2100166 (https://orcid.org/0000-0003-0011-764X)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, disease_grouping, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, harrisons_view_member, harrisons_view_hereditary_disease, harrisons_view_metabolic_disease, ordo_group_of_disorders

ClinGen label
peroxisomal disease [ Orphanet:68373 DOID:906 ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

exactMatch

http://linkedlifedata.com/resource/umls/id/C0282528

http://purl.obolibrary.org/obo/DOID_906

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/782299726

http://www.orpha.net/ORDO/Orphanet_68373

http://identifiers.org/snomedct/238059005

http://purl.obolibrary.org/obo/NCIT_C85005

http://identifiers.org/medgen/129185

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0100033

id

MONDO:0019053

term tracker item

https://github.com/monarch-initiative/mondo/issues/5786