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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:Schopf-Schulz-Passarge syndrome
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Accession:DOID:0111647 term browser browse the term
Definition:An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. (DO)
Synonyms:exact_synonym: SSPS;   eccrine tumors with ectodermal dysplasia;   eccrine tumors-ectodermal dysplasia;   keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis;   keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome;   palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome;   palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
 primary_id: MESH:C565607
 alt_id: OMIM:224750
 xref: ORDO:50944


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Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      ectodermal dysplasia 540
        Schopf-Schulz-Passarge syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            mouth disease 1012
              tooth disease 443
                Tooth Abnormalities 282
                  anodontia 73
                    Schopf-Schulz-Passarge syndrome 1
paths to the root