Inherited isolated nail anomaly

Summary

Inherited isolated nail anomaly (MONDO:0019284) is a disease (an umbrella term covering 9 Mondo subtypes). A subtype of nail disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 9 Mondo subtypes
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	inherited isolated nail anomaly
Mondo ID	MONDO:0019284
OMIM	161050
Orphanet	79369
DOID	DOID:0080683
UMLS	C5681477
MedGen	1843192
GARD	0019000
Is cancer (heuristic)	no

Also known as: nail disorder, nonsyndromic congenital · nonsyndromic nail anomaly

Data availability: 1 ClinVar variant.

Disease family

This is a subtype of nail 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 › integumentary system disorder › nail disorder › inherited isolated nail anomaly

Related subtypes (6): paronychia, nail tumor, nail anomaly, Basaran Yilmaz syndrome, Judge Misch wright syndrome, nail infection

Subtypes (9): isolated congenital digital clubbing, nonsyndromic congenital nail disorder 2, nonsyndromic congenital nail disorder 3, nonsyndromic congenital nail disorder 1, nonsyndromic congenital nail disorder 5, nonsyndromic congenital nail disorder 7, nonsyndromic congenital nail disorder 8, leukonychia totalis, isolated congenital anonychia

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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
545498	NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu)	LOC111982863	Conflicting classifications of pathogenicity	no assertion criteria provided

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.