Congenital pseudoarthrosis of the femur

Summary

Congenital pseudoarthrosis of the femur (MONDO:0017463) is a disease. A subtype of congenital pseudoarthrosis of the limbs — 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	congenital pseudoarthrosis of the femur
Mondo ID	MONDO:0017463
Orphanet	295020
UMLS	C5679939
MedGen	1843312
GARD	0021204
Is cancer (heuristic)	no

Also known as: congenital pseudarthrosis of the femur

Disease family

This is a subtype of congenital pseudoarthrosis of the limbs. 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 etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › congenital pseudoarthrosis of the limbs › congenital pseudoarthrosis of the femur

Related subtypes (4): congenital pseudoarthrosis of the tibia, congenital pseudoarthrosis of the fibula, congenital pseudoarthrosis of the radius, congenital pseudoarthrosis of the ulna

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.