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RGD uses the Human Disease Ontology (DO, 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 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Burnett Schwartz Berberian Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          mouth disease 754
            tooth disease 281
              Tooth Abnormalities 148
                dental enamel hypoplasia 55
                  amelogenesis imperfecta 52
                    X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 2
                      Burnett Schwartz Berberian Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.