ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0012923
 xref: ORDO:171851
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MEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 JBrowse link 12 22,665,128 22,676,079 RGD:7240710
RGD:8554872
RGD:9684947
RGD:11554173

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  disease 14875
    syndrome 4220
      MEDNIK syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Erythema 58
              erythrokeratodermia variabilis 6
                MEDNIK syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.