Partial deletion of the long arm of chromosome 11

Summary

Partial deletion of the long arm of chromosome 11 (MONDO:0016910) is a disease (an umbrella term covering 5 Mondo subtypes). A subtype of partial deletion of chromosome 11 — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 5 Mondo subtypes
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	partial deletion of the long arm of chromosome 11
Mondo ID	MONDO:0016910
MeSH	C538296
Orphanet	262092
ICD-11	237602200
NCIT	C37312
UMLS	C2931804
MedGen	419905
Is cancer (heuristic)	no

Also known as: 11q deletion · 11q monosomy · chromosome 11q deletion · chromosome 11q partial deletion · deletion 11q · Deletion 11q partial · monosomy 11q · monosomy 11q partial · partial deletion of chromosome 11q · partial deletion of the long arm of chromosome type 11 · partial monosomy 11q · partial monosomy of chromosome 11q · partial monosomy of the long arm of chromosome 11

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 5 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › syndrome caused by partial chromosomal deletion › partial deletion of chromosome 11 › partial deletion of the long arm of chromosome 11

Related subtypes (1): partial deletion of the short arm of chromosome 11

Subtypes (5): Jacobsen syndrome, otodental syndrome, Paris-Trousseau thrombocytopenia, 11q22.2q22.3 microdeletion syndrome, oculootodental syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
4819210	Single allele	LOC130006564	Pathogenic	criteria provided, single submitter

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.