Sex chromosome disorder of sex development

Summary

Sex chromosome disorder of sex development (MONDO:0017975) is a disease (an umbrella term covering 7 Mondo subtypes). A subtype of disorder of sexual differentiation — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 7 Mondo subtypes

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	sex chromosome disorder of sex development
Mondo ID	MONDO:0017975
MeSH	D058533
Orphanet	325546
UMLS	C2936421
MedGen	423530
Is cancer (heuristic)	no

Also known as: Sex chromosome DSD

Disease family

This is a subtype of disorder of sexual differentiation. 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 › reproductive system disorder › gonadal disorder › disorder of sexual differentiation › sex chromosome disorder of sex development

Related subtypes (7): gynecomastia disorder, true hermaphroditism, 46,XX ovotesticular disorder of sex development, 46,XX disorder of sex development, 46 XY differences of sex development, indeterminate sex and/or pseudohermaphroditism, MCM9-related gametogenic failure

Subtypes (7): Klinefelter syndrome, 48,XXYY syndrome, 45,X/46,XY mixed gonadal dysgenesis, tetragametic chimerism, Turner syndrome, 48,XXXY syndrome, 49,XXXXY 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

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

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Metformin.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.