X-linked cone-rod dystrophy 2

Summary

X-linked cone-rod dystrophy 2 (MONDO:0010245) is a disease. A subtype of X-linked cone-rod dystrophy — 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	X-linked cone-rod dystrophy 2
Mondo ID	MONDO:0010245
MeSH	C564717
OMIM	300085
DOID	DOID:0111006
UMLS	C1848139
MedGen	341161
GARD	0001462
Is cancer (heuristic)	no

Also known as: COD2 · cone dystrophy 2, X-linked · cone dystrophy X-linked 2 · cone dystrophy, progressive X-linked, 2 · cone-rod dystrophy X-linked 2 · cone-rod dystrophy, X-linked, 2 · CORDX2 · X-linked cone-rod dystrophy type 2

Disease family

This is a subtype of X-linked cone-rod dystrophy. 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 etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › X-linked disease › X-linked cone-rod dystrophy › X-linked cone-rod dystrophy 2

Related subtypes (3): X-linked cone-rod dystrophy 3, blue cone monochromacy, X-linked cone-rod dystrophy 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.