Amelia of lower limb

Summary

Amelia of lower limb (MONDO:0017438) is a disease. A subtype of non-syndromic amelia — 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	amelia of lower limb
Mondo ID	MONDO:0017438
Orphanet	294969
ICD-11	540310468
SNOMED CT	265798000
UMLS	C0265621
MedGen	539370
GARD	0021191
Anatomy (UBERON)	UBERON:0002103
Is cancer (heuristic)	no

Also known as: hindlimb non-syndromic amelia · non-syndromic amelia of hindlimb

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of non-syndromic amelia. 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 › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone development disease › dysostosis › non-syndromic amelia › amelia of lower limb

Related subtypes (2): amelia of upper limb, tetra-amelia

Subtypes (2): amelia of lower limb, unilateral, amelia of lower limb, bilateral

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.