Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novelty and idiosyncrasy: the clay feet of rare disease descriptions.

European journal of medical genetics - 1 Jul 2026

Aouchiche Karine, Guerry Paul, Fabre Alexandre

Abstract excerpt

Medical understanding of rare diseases is hindered by incomplete initial descriptions. A related but often overlooked question is how many patients are required to define a phenotype. We evaluated the phenome coverage of 10 recently published gene-disease associations using the Human Phenotype Ontology (HPO) system as a template and calculated the sample sizes required to significantly associate the prevalence of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Association Studies
Share to Phenotype
Share to Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 42167721
DOI: 10.1016/j.ejmg.2026.105083

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novelty and idiosyncrasy: the clay feet of rare disease descriptions.PMID 42167721Read ↗

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.Semantic proximity Read ↗

Methods for determining the genetic causes of rare diseasesSemantic proximity Read ↗

eRAM: encyclopedia of rare disease annotations for precision medicine.Semantic proximity Read ↗

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Semantic proximity Read ↗

Rare disorders have many faces: in silico characterization of rare disorder spectrum.Semantic proximity Read ↗

The Human Phenotype Ontology in 2017.Semantic proximity Read ↗

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.Semantic proximity Read ↗

[From symptom to syndrome using modern software support].Semantic proximity Read ↗

The Human Phenotype Ontology in 2024: phenotypes around the world.Semantic proximity Read ↗

The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sourcesSemantic proximity Read ↗

[Rare-disease data standards].Semantic proximity Read ↗

The Human Phenotype Ontology in 2021.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.