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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 OMIM
ClinVar
PMID:20619487 PMID:21820097 PMID:24664640 PMID:25741868 PMID:26932190 NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      ectodermal dysplasia 428
        BASAN syndrome 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          skin disease 3782
            Skin Abnormalities 1077
              ectodermal dysplasia 428
                BASAN syndrome 1
paths to the root