Blepharochalasis

Summary

Blepharochalasis (MONDO:0002660) is a disease. A subtype of eyelid disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	blepharochalasis
Mondo ID	MONDO:0002660
DOID	DOID:348
ICD-10-CM	H02.3
ICD-11	583527617
SNOMED CT	47704002
UMLS	C0005742
MedGen	14154
Is cancer (heuristic)	no

Also known as: blepharochalasis · blepharochalasis (disease)

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of eyelid disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye adnexa disorder › eyelid disorder › blepharochalasis

Related subtypes (19): eyelid degenerative disorder, blepharophimosis, hypertrichosis of eyelid, hypotrichosis of eyelid, entropion, lagophthalmos, stenosis of lacrimal punctum, stenosis of lacrimal passage, ectropion, eyelid neoplasm, blepharitis, eyelid hypopigmentation, telecanthus, cryptophthalmia, epiblepharon, congenital eyelid retraction, herpes zoster with dermatitis of eyelid, eyelid seborrheic keratosis, dermatosis of eyelid

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

No tiered GWAS variants or ClinVar records for this disease.

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.