JSON

[X] skeletal dysplasia

Go to external page http://purl.obolibrary.org/obo/MONDO_0018230

Any Mendelian diseases that affects growth and development of the skeleton. [ http://www.ncbi.nlm.nih.gov/pubmed/31633310 https://www.skeldys.org/ https://orcid.org/0000-0001-5208-3432 ]

Synonyms: Mendelian skeletal dysplasia primary skeletal dysplasia primary bone dysplasia primary osteodysplasia

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:364526 (MONDO:equivalentTo)
  • MEDGEN:98053 (MONDO:equivalentTo)
  • UMLS:C0410528 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, disease_grouping, 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, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, harrisons_view_musculoskeletal_system_disorder, harrisons_view_hereditary_disease, ordo_group_of_disorders

exactMatch

http://identifiers.org/medgen/98053

http://linkedlifedata.com/resource/umls/id/C0410528

http://www.orpha.net/ORDO/Orphanet_364526

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005497

http://purl.obolibrary.org/obo/MONDO_0018457

http://purl.obolibrary.org/obo/MONDO_0015958

id

MONDO:0018230

term tracker item

https://github.com/monarch-initiative/mondo/issues/4995

Term relations