2q23.1 microdeletion syndrome

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The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

External resources

UMLS CUI	C4304532^[1]
GARD rare disease ID	10998^[2]
Google Knowledge Graph ID	/g/11h4lhx6lt
ICD-10-CM	Q93.5^[2]
Mondo ID	MONDO_0016459
Orphanet ID	228402^[2] mapping relation type: përputhje e përpiktë

instancë e

class of disease

nënklasë e

chromosome 2q deletion

genetic association

MBD5^[3]

përputhje e saktë

http://www.orpha.net/ORDO/Orphanet_228402

Reference

^ UMLS 2023, 16 qershor 2023, inferred by common Orphanet mappings on source and on Wikidata
^ ^a ^b ^c Monarch Disease Ontology release 2018-06-29, 7 gusht 2018, MONDO_0016459
^ Open Targets Platform, 24 gusht 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000204406/MONDO_0016459

[r6ae94e3e-1] UMLS 2023, 16 qershor 2023, inferred by common Orphanet mappings on source and on Wikidata

[ra767145d-2] Monarch Disease Ontology release 2018-06-29, 7 gusht 2018, MONDO_0016459

[re0693122-3] Open Targets Platform, 24 gusht 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000204406/MONDO_0016459

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