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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;   impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma;   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


show annotations for term's descendants           Sort by:
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: MEDNIK syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:1905767 PMID:16199547 PMID:19057675 PMID:23423674 PMID:25741868 More... RGD:9684947 NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      MEDNIK syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Erythema 76
                erythrokeratodermia variabilis 10
                  MEDNIK syndrome 1
paths to the root