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

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.

Clinical genetics - 1 Apr 2000

Boyadjiev S A, Jabs E W

Abstract excerpt

In this review, we summarize the current genetic information on human developmental disorders found in Online Mendelian Inheritance in Man (OMIM). The OMIM catalogues human phenotypes and genotypes and relevant mouse models. Among the more than 11005 genetic disorders and loci, we found at least 1231 human conditions with known gene mutationsffWe searched for human developmental disorders that present with...

Read the complete abstract on PubMed

Topics

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

Share to Data Collection
Share to Databases, Factual
Share to Developmental Biology

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Disease Models, Animal

Share to Genetic Diseases, Inborn

Share to Genotype

Share to Phenotype

Source

Identifiers

PMID: 10845565
DOI: 10.1034/j.1399-0004.2000.570403.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.PMID 10845565Read ↗

Embracing human genetics: a primer for developmental biologists.Semantic proximity Read ↗

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.Semantic proximity Read ↗

Clinical and Molecular Characteristics of Patients with Craniofacial Malformations Due to Syndromic and Non-Syndromic EtiologiesSemantic proximity Read ↗

Searching Online Mendelian Inheritance in Man (OMIM) for information on genetic loci involved in human disease.Semantic proximity Read ↗

Searching Online Mendelian Inheritance in Man (OMIM) for information for genetic loci involved in human disease.Semantic proximity Read ↗

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.Semantic proximity Read ↗

McKusick's Online Mendelian Inheritance in Man (OMIM).Semantic proximity Read ↗

Online Mendelian Inheritance in Man (OMIM).Semantic proximity Read ↗

Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes.Semantic proximity Read ↗

Prevalence and architecture of de novo mutations in developmental disorders.Semantic proximity Read ↗

Large Genetic Study Uncovers 14 New Genes Responsible for Developmental Disorders in Children.Semantic proximity Read ↗

New insights into craniofacial malformationsSemantic proximity Read ↗

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