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[X] neurodegeneration with brain iron accumulation

Go to external page http://purl.obolibrary.org/obo/MONDO_0018307

Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. [ Orphanet:385 ]

Synonyms: neurodegeneration with brain iron accumulation NBIA

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:2100241 (https://orcid.org/0000-0003-0011-764X)
  • icd11.foundation:440483530 (MONDO:equivalentTo)
  • GARD:11899 (MONDO:GARD)
  • Orphanet:385 (MONDO:equivalentTo)
  • UMLS:C2931845 (MONDO:equivalentTo)
  • MEDGEN:444156 (MONDO:equivalentTo)
  • DOID:0110734 (MONDO:equivalentTo)
  • MESH:C538421 (Orphanet:385/e)
  • OMIMPS:234200 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, disease_grouping, matrix_llm__txgnn_other, mondo_top_grouping_member, harrisons_view_psychiatric_disorder, nord_rare, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_psychiatric_disorder, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_neurodegenerative_disease, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, ordo_group_of_disorders, harrisons_view_metabolic_disease

ClinGen label
neurodegeneration with brain iron accumulation [ icd11.foundation:440483530 Orphanet:385 DOID:0110734 OMIMPS:234200 ]

abbreviation
NBIA [ Orphanet:385 DOID:0110734 ]

comment

Editor note: check relationship to PKAN

exactMatch

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/440483530

http://linkedlifedata.com/resource/umls/id/C2931845

http://purl.obolibrary.org/obo/DOID_0110734

https://omim.org/phenotypicSeries/PS234200

http://identifiers.org/medgen/444156

http://identifiers.org/mesh/C538421

http://www.orpha.net/ORDO/Orphanet_385

id

MONDO:0018307

should conform to

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