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ONTOLOGY REPORT - ANNOTATIONS


Term:Basan Syndrome
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Accession:DOID:9006949 term browser browse the term
Definition:Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving.
Synonyms:exact_synonym: ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITAL CONTRACTURES, AND NAIL ABNORMALITIES;   ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE;   Ectodermal dysplasia absent dermatoglyphics
 primary_id: MESH:C537659;   OMIM:129200
 alt_id: RDO:0003536
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Basan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` JBrowse link 4 95,884,020 95,945,248 RGD:8554872
RGD:7240710

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Path 1
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  disease 15553
    syndrome 5224
      Basan Syndrome 1
Path 2
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  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                ectodermal dysplasia 252
                  Basan 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.