OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders (Q34449729)

2 August 2017

title

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

1 reference

object of statement has role

2 August 2017

databases, genetic

Medical Subject Headings

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A25428349

6 July 2025

5

Ada Hamosh

1 reference

2 August 2017

author name string

François Schiettecatte

3

1 reference

2 August 2017

Joanna S. Amberger

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A25428349

6 July 2025

Carol A. Bocchini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A25428349

6 July 2025

Alan F. Scott

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A25428349

6 July 2025

publication date

26 November 2014

1 reference

https://academic.oup.com/nar/article-pdf/43/D1/D789/7329486/gku1205.pdf

2 August 2017

language of work or name

English

0 references

work available at URL

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A25428349

https://europepmc.org/articles/PMC4383985

6 July 2025

file format

HyperText Markup Language

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A25428349

https://europepmc.org/articles/PMC4383985?pdf=render

6 July 2025

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A25428349

http://academic.oup.com/nar/article-pdf/43/D1/D789/7329486/gku1205.pdf

6 July 2025

1 reference

https://api.crossref.org/works/10.1093/NAR/GKU1205

6 July 2025

published in

Nucleic Acids Research

1 reference

2 August 2017

volume

43

1 reference

2 August 2017

issue

Database issue

1 reference

2 August 2017

page(s)

D789-98

1 reference

Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

9 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383985

Database resources of the National Center for Biotechnology Information

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383985

ClinVar: public archive of relationships among sequence variation and human phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383985

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383985

P heno DB : A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383985

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383985

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383985

Forty years of SNOMED: a literature review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383985

The Unified Medical Language System (UMLS): integrating biomedical terminology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4383985

Elements of morphology: introduction

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FNAR%2FGKU1205

Definitions and qualifiers in SNOMED CT

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25428349

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

https://api.crossref.org/works/10.1093/NAR/GKU1205

11

1 reference

6 July 2025

Identifiers

DOI

10.1093/NAR/GKU1205

1 reference

journals/nar/AmbergerBSSH15

2 August 2017

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

2 August 2017

1 reference