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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
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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES
OMIM
CTD
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 2:119,314,007...119,344,703
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 2:119,434,760...119,474,665
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 2:119,708,114...119,924,697
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 2:119,427,239...119,433,645
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 2:119,416,028...119,426,981
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 2:120,236,328...120,290,673
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 2:120,004,862...120,009,566
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 2:120,117,105...120,127,012
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 4:94,944,392...94,981,871
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 2:119,053,083...119,096,864
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 2:120,557,256...120,561,917
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 4:94,867,258...94,908,780
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 2:119,481,313...119,619,333
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 18973
    syndrome 10901
      neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 19
Path 2
Term Annotations click to browse term
  disease 18973
    disease of anatomical entity 18268
      nervous system disease 14122
        central nervous system disease 12443
          brain disease 11681
            disease of mental health 8329
              developmental disorder of mental health 5559
                specific developmental disorder 4525
                  intellectual disability 4305
                    neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 19
paths to the root