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2p21 microdeletion syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0015583

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. [ Orphanet:163693 ]

Synonyms: Del(2)(p21) monosomy 2p21 2p21 microdeletion syndrome 2p21 deletion syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:16999 (MONDO:GARD)
  • DECIPHER:87 (https://orcid.org/0009-0001-6494-4831)
  • Orphanet:163693 (MONDO:equivalentTo)
  • SCTID:719652007 (MONDO:equivalentTo)
  • MEDGEN:930206 (MONDO:equivalentTo)
  • UMLS:C4304537 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, harrisons_view_chromosomal_disorder, mondo_top_grouping_chromosomal_disorder, nord_rare, matrix_included, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, orphanet_rare

conformsTo

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

exactMatch

http://identifiers.org/snomedct/719652007

http://identifiers.org/medgen/930206

http://linkedlifedata.com/resource/umls/id/C4304537

http://www.orpha.net/ORDO/Orphanet_163693

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0016901

http://purl.obolibrary.org/obo/MONDO_0011669

id

MONDO:0015583

term tracker item

https://github.com/monarch-initiative/mondo/issues/3664

https://github.com/monarch-initiative/mondo/issues/3777

https://github.com/monarch-initiative/mondo/issues/6311