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

RDmap: a map for exploring rare diseases.

Orphanet journal of rare diseases - 25 Feb 2021

Yang Jian, Dong Cong, Duan Huilong, Shu Qiang, Li Haomin

Abstract excerpt

BACKGROUND: The complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians. A map for visualizing, locating and navigating rare diseases based on similarity will help clinicians and researchers understand and easily explore these diseases. METHODS: A distance matrix of rare diseases included in Orphanet was...

Read the complete abstract on PubMed

Topics

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

Share to Biological Ontologies
Share to Gene Ontology
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Rare Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 33632281
DOI: 10.1186/s13023-021-01741-4
PMCID: PMC7905868

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RDmap: a map for exploring rare diseases.PMID 33632281Read ↗

RDmap: A Map for Exploring Rare DiseasesSemantic proximity Read ↗

A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases.Semantic proximity Read ↗

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.Semantic proximity Read ↗

Disease and pathway maps for Rare DiseasesSemantic proximity Read ↗

Combining phenotypic similarity and network propagation to improve performance and clinical consistency of rare disease diagnosisSemantic proximity Read ↗

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

LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems.Semantic proximity Read ↗

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Semantic proximity Read ↗

OMIM.org: leveraging knowledge across phenotype–gene relationshipsSemantic proximity Read ↗

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and researchSemantic proximity Read ↗

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

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

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