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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:Charcot-Marie-Tooth disease type 4E
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Accession:DOID:0110195 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. (DO)
Synonyms:exact_synonym: CHN;   CMT4E;   Charcot-Marie-Tooth Neuropathy, Type 4e;   Hypomyelination, severe congenital;   NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE;   congenital hypomyelinating neuropathy 1
 narrow_synonym: congenital hypomyelinating neuropathy, autosomal dominant
 broad_synonym: congenital hypomyelinating neuropathy;   congenital hypomyelinating neuropathy (CHN)
 primary_id: MESH:C535301
 alt_id: OMIM:605253
 xref: ORDO:99951


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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:605253
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E		 OMIM
CTD
MouseDO
ClinVar		 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        neuromuscular disease 3059
          Congenital Hypomyelinating Neuropathy 7
            Charcot-Marie-Tooth disease type 4E 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              motor peripheral neuropathy 1201
                Charcot-Marie-Tooth disease 659
                  Charcot-Marie-Tooth disease type 4 62
                    Charcot-Marie-Tooth disease type 4E 3
paths to the root