(Q34449729)

2 August 2017

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

1 reference

2 August 2017

5

Ada Hamosh

1 reference

2 August 2017

Joanna S Amberger

1

1 reference

2 August 2017

Carol A Bocchini

series ordinal

2

1 reference

2 August 2017

François Schiettecatte

series ordinal

3

1 reference

2 August 2017

Alan F Scott

series ordinal

4

1 reference

2 August 2017

language of work or name

English

0 references

publication date

26 November 2014

1 reference

2 August 2017

Nucleic Acids Research

1 reference

2 August 2017

43

1 reference

2 August 2017

Database issue

1 reference

2 August 2017

D789-98

1 reference

Creative Commons Attribution 4.0 International

2 August 2017

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

PhenoDB: 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

Identifiers

DOI

10.1093/NAR/GKU1205

1 reference

journals/nar/AmbergerBSSH15

2 August 2017

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

2 August 2017

1 reference