[X] spondyloepimetaphyseal dysplasia
Go to external page http://purl.obolibrary.org/obo/MONDO_0100510
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis. [ https://orcid.org/0000-0001-5208-3432 DOID:0080027 ]
Synonyms: spondylo-epi-(meta)-physeal dysplasia SEMD
Term information
- MEDGEN:609408 (MONDO:equivalentTo)
- UMLS:C0432211 (MONDO:equivalentTo)
- SCTID:254062008 (MONDO:equivalentTo)
- DOID:0080027 (MONDO:equivalentTo)
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, mondo_top_grouping_member, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, nord_rare, matrix_llm__tag_existing_treatment_other, 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
http://linkedlifedata.com/resource/umls/id/C0432211
http://identifiers.org/snomedct/254062008
http://purl.obolibrary.org/obo/DOID_0080027
http://identifiers.org/medgen/609408