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spondyloepimetaphyseal dysplasia, Strudwick type

Go to external page http://purl.obolibrary.org/obo/MONDO_0008476

A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). [ Orphanet:93346 https://orcid.org/0000-0001-5208-3432 ]

Synonyms: spondyloepimetaphyseal dysplasia, Strudwick type

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0700635 (MONDO:equivalentTo)
  • NANDO:2201349 (https://orcid.org/0000-0003-0011-764X)
  • OMIM:184250 (Orphanet:93346/e)
  • GARD:134 (MONDO:GARD)
  • ICD9:758.89 (MONDO:relatedTo)
  • SCTID:702350003 (MONDO:equivalentTo)
  • MEDGEN:147134 (MONDO:equivalentTo)
  • DOID:0080028 (MONDO:equivalentTo)
  • Orphanet:93346 (OMIM:184250)
Subsets

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

abbreviation
SEMDSTWK [ MONDO:Lexical ]

exactMatch

http://identifiers.org/medgen/147134

http://www.orpha.net/ORDO/Orphanet_93346

http://linkedlifedata.com/resource/umls/id/C0700635

http://purl.obolibrary.org/obo/DOID_0080028

http://identifiers.org/snomedct/702350003

https://omim.org/entry/184250

excluded subClassOf

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

has related synonym

Smed, type 1

Smed, Strudwick type

SMED type 1

SEMDSTWK

Strudwick syndrome

spondyloepimetaphyseal dysplasia congenita, Strudwick type

spondylometaphyseal dysplasia

SmD

SMED Strudwick type

dappled metaphysis syndrome

Semdc

SEMD, Strudwick type

spondylometaepiphyseal dysplasia congenita, Strudwick type

spondyloepimetaphyseal dysplasia Strudwick type

id

MONDO:0008476

seeAlso

https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-strudwick-type

term tracker item

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

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