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:neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
go back to main search page
Accession:DOID:9004336 term browser browse the term
Definition:An autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss.
Synonyms:exact_synonym: EHLMRS;   Epilepsy, Hearing Loss, and Mental Retardation Syndrome;   NEDHSB;   epilepsy, hearing loss, and intellectual disability syndrome
 primary_id: MIM:616577
 xref: EFO:0009647


show annotations for term's descendants           Sort by:
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adad1 adenosine deaminase domain containing 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 2:119,948,809...120,005,920
Ensembl chr 2:119,948,926...120,005,913 		JBrowse link
G Afg2a AFG2 AAA ATPase homolog A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr 2:120,306,417...120,497,707
Ensembl chr 2:120,306,412...120,497,705 		JBrowse link
G Anxa5 annexin A5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:26299366 PMID:28492532 NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 2:121,362,884...121,402,473
Ensembl chr 2:119,434,760...119,474,396 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 2:121,636,181...121,852,802
Ensembl chr 2:119,708,209...119,924,695 		JBrowse link
G Ccna2 cyclin A2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 2:121,355,363...121,361,762
Ensembl chr 2:119,426,089...119,433,577 		JBrowse link
G Exosc9 exosome component 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 2:121,344,154...121,355,110
Ensembl chr 2:119,388,715...119,427,051 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:26299366 PMID:28492532 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Il2 interleukin 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il21 interleukin 21 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Ndnf neuron-derived neurotrophic factor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:96,274,147...96,311,624
Ensembl chr 4:94,944,360...94,981,873 		JBrowse link
G Nudt6 nudix hydrolase 6 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:26299366 PMID:28492532 NCBI chr 2:120,289,908...120,306,197
Ensembl chr 2:120,290,847...120,306,230 		JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
G Qrfpr pyroglutamylated RFamide peptide receptor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 2:120,981,235...121,025,020
Ensembl chr 2:119,053,511...119,096,792 		JBrowse link
G Smim43 small integral membrane protein 43 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 2:119,380,454...119,385,966
Ensembl chr 2:119,385,754...119,385,945 		JBrowse link
G Spry1 sprouty RTK signaling antagonist 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 2:122,484,995...122,490,008
Ensembl chr 2:120,556,706...120,566,189 		JBrowse link
G Tnip3 TNFAIP3 interacting protein 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:96,197,019...96,237,357
Ensembl chr 4:94,811,097...94,907,605 		JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 2:121,409,436...121,487,095
Ensembl chr 2:119,481,400...119,558,855 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 19
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            disease of mental health 8462
              developmental disorder of mental health 5653
                specific developmental disorder 4621
                  intellectual disability 4391
                    neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 19
paths to the root