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X-linked complicated spastic paraplegia type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0017630

An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain. [ https://www.ncbi.nlm.nih.gov/books/NBK1484 https://orcid.org/0000-0002-6601-2165 ]

Synonyms: SPG1

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C5779711 (MONDO:equivalentTo)
  • Orphanet:306617 (MONDO:equivalentTo)
  • GARD:12525 (MONDO:GARD)
  • MEDGEN:1843445 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, ordo_subtype_of_a_disorder, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_included, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis

abbreviation
SPG1 [ Orphanet:306617 ]

exactMatch

http://identifiers.org/medgen/1843445

http://www.orpha.net/ORDO/Orphanet_306617

http://linkedlifedata.com/resource/umls/id/C5779711

id

MONDO:0017630