JSON

[X] spondyloepimetaphyseal dysplasia with joint laxity

Go to external page http://purl.obolibrary.org/obo/MONDO_0019675

A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment. [ http://www.ncbi.nlm.nih.gov/pubmed/12784311 ]

Synonyms: SEMD-JL spondyloepimetaphyseal dysplasia with joint laxity SEMDJL

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0112197 (MONDO:equivalentTo)
  • Orphanet:93359 (MONDO:equivalentObsolete)
  • ICD9:719.80 (MONDO:relatedTo)
  • MEDGEN:98148 (MONDO:equivalentTo)
  • GARD:4982 (MONDO:GARD)
  • SCTID:254100000 (MONDO:equivalentTo)
  • MESH:C562968 (MONDO:equivalentTo)
  • OMIMPS:271640 (MONDO:equivalentTo)
  • ICD9:756.9 (MONDO:relatedTo)
  • UMLS:C0432243 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, nord_rare, 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, harrisons_view_musculoskeletal_system_disorder

abbreviation
SEMDJL1

abbreviation
SEMDJL [ GARD:0004982 DOID:0112197 ]

exactMatch

http://identifiers.org/mesh/C562968

http://linkedlifedata.com/resource/umls/id/C0432243

http://identifiers.org/snomedct/254100000

http://purl.obolibrary.org/obo/DOID_0112197

http://identifiers.org/medgen/98148

https://omim.org/phenotypicSeries/PS271640

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018293

http://purl.obolibrary.org/obo/MONDO_0018292

http://purl.obolibrary.org/obo/MONDO_0016761

http://purl.obolibrary.org/obo/MONDO_0017742

has narrow synonym

spondyloepimetaphyseal dysplasia with joint laxity type 1

SEMDJL1

spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

has related synonym

spondyloepimetaphyseal dysplasia joint laxity

id

MONDO:0019675

should conform to

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

term tracker item

https://github.com/monarch-initiative/mondo/issues/5280

Term relations