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spondyloepimetaphyseal dysplasia with multiple dislocations

Go to external page http://purl.obolibrary.org/obo/MONDO_0011335

A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity. [ NCIT:C125419 ]

Synonyms: spondyloepimetaphyseal dysplasia with joint laxity type 2 spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with joint laxicity, Hall type SEMDJL2 spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type SEMD-MD

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:603546 (Orphanet:93360/e)
  • UMLS:C1863732 (MONDO:equivalentTo)
  • Orphanet:93360 (OMIM:603546)
  • MESH:C535784 (Orphanet:93360/e)
  • DOID:0112199 (MONDO:equivalentTo)
  • NCIT:C125419 (MONDO:equivalentTo)
  • GARD:9866 (MONDO:GARD)
  • MEDGEN:350960 (MONDO:equivalentTo)
  • SCTID:766820007 (MONDO:equivalentTo)
Subsets

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

abbreviation
SEMD-MD [ DOID:0112199 Orphanet:93360 ]

abbreviation
SEMDJL2 [ Orphanet:93360 DOID:0112199 NCIT:C125419 https://omim.org/entry/603546 MONDO:Lexical ]

exactMatch

http://identifiers.org/medgen/350960

https://omim.org/entry/603546

http://identifiers.org/snomedct/766820007

http://purl.obolibrary.org/obo/NCIT_C125419

http://purl.obolibrary.org/obo/DOID_0112199

http://linkedlifedata.com/resource/umls/id/C1863732

http://www.orpha.net/ORDO/Orphanet_93360

http://identifiers.org/mesh/C535784

has related synonym

spondyloepimetaphyseal dysplasia with JOINT laxity, type 2

spondyloepimetaphyseal dysplasia with Joint laxity, Hall type

spondyloepimetaphyseal dysplasia with Joint laxity, type 2

spondyloepimetaphyseal dysplasia with multiple dislocations Hall type

spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type

spondyloepimetaphyseal dysplasia with JOINT laxity type 2

spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type

id

MONDO:0011335

seeAlso

https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations

term tracker item

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