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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:MEDNIK syndrome
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Accession:DOID:0060483 term browser browse the term
Definition:A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. (DO)
Synonyms:exact_synonym: EKV3;   MEDNIK;   erythrokeratodermia variabilis 3;   erythrokeratodermia variabilis, Kamouraska type;   mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia;   mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
 primary_id: MESH:C563739
 alt_id: OMIM:609313
 xref: ORDO:171851
For additional species annotation, visit the Alliance of Genome Resources.


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MEDNIK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO DNA:mutation:splice junction:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
OMIM
CTD
ClinVar
PMID:19057675, PMID:23423674, PMID:25741868, PMID:30244301, PMID:19057675 RGD:9684947 NCBI chr12:22,665,128...22,676,079
Ensembl chr12:22,665,112...22,676,075
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      MEDNIK syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Erythema 58
              erythrokeratodermia variabilis 7
                MEDNIK syndrome 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.