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2p13.2 microdeletion syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018207

2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. [ Orphanet:363680 ]

Synonyms: Del(2)(p13.2)

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:363680 (MONDO:equivalentTo)
  • UMLS:C4749460 (MONDO:equivalentTo)
  • MEDGEN:1662313 (MONDO:equivalentTo)
  • GARD:21557 (MONDO:GARD)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, 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, harrisons_view_chromosomal_disorder, mondo_top_grouping_chromosomal_disorder, matrix_llm__tag_existing_treatment_other, matrix_included, nord_rare, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, ordo_malformation_syndrome, mondo_top_grouping_disorder_of_development_or_morphogenesis, orphanet_rare

conformsTo

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

exactMatch

http://www.orpha.net/ORDO/Orphanet_363680

http://identifiers.org/medgen/1662313

http://linkedlifedata.com/resource/umls/id/C4749460

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0018207

term tracker item

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