.
renal hypomagnesemia 4 - Ontology Report - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:renal hypomagnesemia 4
go back to main search page
Accession:DOID:0060882 term browser browse the term
Definition:A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25. (DO)
Synonyms:exact_synonym: EGF-RELATED CONDITION;   HOMG4;   normocalciuric renal hypomagnesemia
 related_synonym: renal hypomagnesemia, recessive
 xref: MESH:C567127;   MIM:611718;   MONDO:0012717;   ORDO:34527

1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
X

show annotations for term's descendants           Sort by:
renal hypomagnesemia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 5:138,148,234...138,155,672
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EGF-related condition | ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 4 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:17671655 PMID:18550579 PMID:25741868 More... NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        inherited metabolic disorder 6628
          renal tubular transport disease 111
            renal hypomagnesemia 4 2
Path 2
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        acquired metabolic disease 2544
          nutrition disease 1036
            Malnutrition 284
              nutritional deficiency disease 264
                primary hypomagnesemia 8
                  renal hypomagnesemia 4 2
paths to the root