Ochronosis disorder

Summary

Ochronosis disorder (MONDO:0001910) is a disease. A subtype of connective tissue 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	ochronosis disorder
Mondo ID	MONDO:0001910
MeSH	D009794
DOID	DOID:14223
NCIT	C84938
SNOMED CT	410042009
UMLS	C0028817
MedGen	45177
GARD	0007231
Anatomy (UBERON)	UBERON:0002418
Is cancer (heuristic)	no

Also known as: ochronosis

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of connective tissue 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 › connective tissue disorder › ochronosis disorder

Related subtypes (15): benign connective and soft tissue neoplasm, enthesopathy, synovitis, collagenopathy, fasciitis, interstitial keratitis, periostitis, rheumatic disorder, panniculitis, ainhum, overlapping connective tissue disease, interstitial cystitis, connective tissue neoplasm, hereditary disorder of connective tissue, disease of the tendon

Subtypes (1): exogenous ochronosis

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.