Amelia of upper limb

Summary

Amelia of upper limb (MONDO:0017437) is a disease and 1 clinical trial. A subtype of non-syndromic amelia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	amelia of upper limb
Mondo ID	MONDO:0017437
Orphanet	294967
ICD-11	565435388
SNOMED CT	205306000
UMLS	C0265570
MedGen	539335
GARD	0021190
Anatomy (UBERON)	UBERON:0002102
Is cancer (heuristic)	no

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

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 upper limb

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

Subtypes (2): amelia of upper limb, unilateral, amelia of upper 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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04048083	Not specified	UNKNOWN	Computer-aided and Mental Trainings Induced Plasticity of Sensorimotor Cortex in Patients Born Without Upper Limbs