Specific developmental disorder

Summary

Specific developmental disorder (MONDO:0000592) is a disease (an umbrella term covering 10 Mondo subtypes) with 1 GWAS associations across 8 studies. A subtype of developmental disorder of mental health — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 10 Mondo subtypes
• GWAS associations: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	specific developmental disorder
Mondo ID	MONDO:0000592
DOID	DOID:0060038
SNOMED CT	10720004
UMLS	C0037785
MedGen	508157
Is cancer (heuristic)	no

Data availability: 1 GWAS association (8 studies).

Disease family

This is a subtype of developmental disorder of mental health. 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 developmental or physiological process › psychiatric disorder › mental disorder › developmental disorder of mental health › specific developmental disorder

Related subtypes (1): pervasive developmental disorder

Subtypes (10): fetal alcohol spectrum disorder, oppositional defiant disorder, fetal nicotine spectrum disorder, communication disorder, stereotypic movement disorder, tic disorder, learning disability, developmental coordination disorder, conduct disorder, attention deficit-hyperactivity disorder

Genetics & variants

GWAS landscape

1 GWAS associations across 8 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs527527103	3e-08	CEP57L1 - CCDC162P	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90481842	Verma A	2024	2,262	445,836	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651592	Liu TY	2025	1,697	231,742	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90481841	Verma A	2024	786	120,126	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435885	Zhou W	2018	496	408,378	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90473294	UK Biobank Whole-Genome Sequencing Consortium	2025	427	458,013	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90481840	Verma A	2024	352	59,561	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473293	UK Biobank Whole-Genome Sequencing Consortium	2025	324	458,116	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90726779	Kim HI	2026	191	43,835	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs527527103	6	109177409	A>G		intron_variant	CEP57L1 - CCDC162P	3e-08	Tier 4: intronic/intergenic

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.