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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


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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: Atrophodermia vermiculata | ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Burnett Schwartz Berberian Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      nervous system disease 13993
        Neurologic Manifestations 9942
          sensory system disease 6847
            mouth disease 935
              tooth disease 378
                teeth hard tissue disease 75
                  dental enamel hypoplasia 66
                    amelogenesis imperfecta 57
                      X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 2
                        Burnett Schwartz Berberian Syndrome 1
paths to the root