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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:Burnett Schwartz Berberian Syndrome
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Accession:DOID:9000847 term browser browse the term
Synonyms:exact_synonym: Amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2;   Atrophodermia Reticulata Symmetrica Faciei;   Atrophodermia reticulata;   Atrophodermia vermiculata;   Folliculitis ulerythematosa;   Folliculitis ulerythematosa reticulata;   Honeycomb atrophy;   Keratosis Pilaris Atrophicans Facies;   Keratosis pilaris;   Ulerythema ophryogenes;   Ulerythema ophryogenes with multiple congenital anomalies;   Ulerythema ophryogenesis
 primary_id: MESH:C537412;   RDO:0003253
For additional species annotation, visit the Alliance of Genome Resources.


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Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:26142438 PMID:28381441 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Burnett Schwartz Berberian Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          mouth disease 783
            tooth disease 299
              Tooth Abnormalities 155
                dental enamel hypoplasia 61
                  amelogenesis imperfecta 53
                    X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 2
                      Burnett Schwartz Berberian Syndrome 1
paths to the root