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spondylometaphyseal dysplasia

Go to external page http://purl.obolibrary.org/obo/MONDO_0016763

Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. [ Orphanet:254 ]

Synonyms: spondylometaphyseal dysplasia

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0112295 (MONDO:equivalentTo)
  • MEDGEN:1674850 (MONDO:equivalentTo)
  • GARD:18685 (MONDO:GARD)
  • Orphanet:254 (MONDO:equivalentTo)
  • icd11.foundation:181781948 (https://orcid.org/0000-0001-5208-3432)
  • UMLS:C4759767 (MONDO:equivalentTo)
  • OMIMPS:184255 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, disease_grouping, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_included, clingen, 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, ordo_group_of_disorders

ClinGen label
spondylometaphyseal dysplasia [ OMIMPS:184255 DOID:0112295 Orphanet:254 ]

contributor

https://orcid.org/0000-0002-4142-7153

https://orcid.org/0000-0003-2955-4640

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0016763

exactMatch

http://purl.obolibrary.org/obo/DOID_0112295

http://identifiers.org/medgen/1674850

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/181781948

https://omim.org/phenotypicSeries/PS184255

http://linkedlifedata.com/resource/umls/id/C4759767

http://www.orpha.net/ORDO/Orphanet_254

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0009943

id

MONDO:0016763

should conform to

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

term tracker item

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

Term relations

Subclass of: