Ptosis, hereditary congenital 2

Summary

Ptosis, hereditary congenital 2 (MONDO:0010280) is a disease. A subtype of congenital ptosis — 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	ptosis, hereditary congenital 2
Mondo ID	MONDO:0010280
MeSH	C564553
OMIM	300245
DOID	DOID:0061148
UMLS	C1846128
MedGen	337515
GARD	0018163
Is cancer (heuristic)	no

Also known as: ptosis, hereditary congenital 2 · ptosis, hereditary congenital 2, X-linked dominant · ptosis, hereditary congenital type 2

Disease family

This is a subtype of congenital ptosis. 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 disorder › ptosis › congenital ptosis › ptosis, hereditary congenital 2

Related subtypes (2): fibrosis of extraocular muscles, congenital, 5, ptosis, hereditary congenital, 1

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.