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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
For additional species annotation, visit the Alliance of Genome Resources.


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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:11554173
RGD:7240710

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Path 1
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  disease 14759
    syndrome 4210
      Basan Syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            Genetic Skin Diseases 576
              ectodermal dysplasia 139
                Basan Syndrome 1
paths to the root