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:Congenital Hypomyelinating Neuropathy
go back to main search page
Accession:DOID:9001527 term browser browse the term
Synonyms:xref: MIM:PS605253


show annotations for term's descendants           Sort by:
Congenital Hypomyelinating Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pten phosphatase and tensin homolog ISO Colorectal hamartomatous polyposis and ganglioneuromatosis OMIA PMID:20952721 PMID:37708475 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
Charcot-Marie-Tooth disease type 4E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E ClinVar PMID:25741868 NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611 		JBrowse link
G Egr2 early growth response 2 ISO
ISS		 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E
OMIM:605253
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9537424 PMID:10369870 PMID:12736090 PMID:17717711 PMID:20301384 More... NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital ClinVar PMID:7527371 PMID:8664899 PMID:9187667 PMID:10737979 PMID:11545686 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Hypomyelination, severe congenital ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
Congenital Hypomyelinating Neuropathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn2 chimerin 2 ISO ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2 ClinVar PMID:25741868 NCBI chr 4:83,148,616...83,407,711
Ensembl chr 4:83,147,983...83,407,709 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2 OMIM
ClinVar		 PMID:7527371 PMID:8664899 PMID:8816708 PMID:9187667 PMID:9888385 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2 ClinVar PMID:17825553 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
Congenital Hypomyelinating Neuropathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: CNTNAP1-related condition | ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 3 OMIM
ClinVar		 PMID:24319099 PMID:25326635 PMID:25741868 PMID:27159321 PMID:27668699 More... NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        neuromuscular disease 3218
          Congenital Hypomyelinating Neuropathy 7
            Charcot-Marie-Tooth disease type 4E 4
            Congenital Hypomyelinating Neuropathy 2 3
            Congenital Hypomyelinating Neuropathy 3 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        peripheral nervous system disease 4382
          neuropathy 4169
            neuromuscular disease 3218
              Congenital Hypomyelinating Neuropathy 7
                Charcot-Marie-Tooth disease type 4E 4
                Congenital Hypomyelinating Neuropathy 2 3
                Congenital Hypomyelinating Neuropathy 3 1
paths to the root