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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:Congenital Hypomyelinating Neuropathy
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Accession:DOID:9001527 term browser browse the term
Synonyms:xref: OMIM:PS605253
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Charcot-Marie-Tooth disease type 4E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Congenital hypomyelinating neuropathy
ClinVar Annotator: match by OMIM:605253
OMIM
ClinVar
PMID:9537424, PMID:10369870, PMID:17717711, PMID:25741868 NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by OMIM:605253
ClinVar Annotator: match by term: Hypomyelination, severe congenital
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4E
ClinVar PMID:7527371, PMID:8664899, PMID:9187667, PMID:10737979, PMID:11545686, PMID:12807974, PMID:12953275, PMID:15094849, PMID:15241803, PMID:17468193, PMID:19454582, PMID:20456450, PMID:23342407, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4E
ClinVar Annotator: match by term: Hypomyelination, severe congenital
ClinVar PMID:12807974, PMID:17468193, PMID:19454582, PMID:23342407, PMID:24033266, PMID:25741868 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
Congenital Hypomyelinating Neuropathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Congenital hypomyelinating neuropathy 2 ClinVar
OMIM
PMID:7527371, PMID:8664899, PMID:8816708, PMID:9187667, PMID:9888385, PMID:10319895, PMID:10737979, PMID:11545686, PMID:12953275, PMID:15094849, PMID:15184631, PMID:15241803, PMID:20456450, PMID:23197742, PMID:25741868, PMID:26392352, PMID:26467025, PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Congenital hypomyelinating neuropathy 2 ClinVar PMID:17825553 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
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: Congenital hypomyelinating neuropathy 3 ClinVar
OMIM
PMID:25326635, PMID:25741868, PMID:27668699, PMID:27782105, PMID:27818385, PMID:28374019, PMID:29511323, PMID:32214227 NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        neuromuscular disease 1805
          Congenital Hypomyelinating Neuropathy 5
            Charcot-Marie-Tooth disease type 4E 3
            Congenital Hypomyelinating Neuropathy 2 2
            Congenital Hypomyelinating Neuropathy 3 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              Congenital Hypomyelinating Neuropathy 5
                Charcot-Marie-Tooth disease type 4E 3
                Congenital Hypomyelinating Neuropathy 2 2
                Congenital Hypomyelinating Neuropathy 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.