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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:BASAN syndrome
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Accession:DOID:0080725 term browser browse the term
Definition:An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. (DO)
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
 alt_id: OMIM:129200
 xref: GARD:2336;   ORDO:1658
For additional species annotation, visit the Alliance of Genome Resources.


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BASAN syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` ISO ClinVar Annotator: match by term: Basan syndrome ClinVar
OMIM
PMID:20619487 PMID:21820097 PMID:24664640 PMID:26932190 NCBI chr 4:95,884,020...95,945,248
Ensembl chr 4:95,884,743...95,945,248
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      ectodermal dysplasia 385
        BASAN syndrome 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        sensory system disease 5584
          skin disease 2945
            Skin Abnormalities 763
              ectodermal dysplasia 385
                BASAN syndrome 1
paths to the root