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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: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 WNT10A 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
For additional species annotation, visit the Alliance of Genome Resources.

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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 ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome OMIM
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Schopf-Schulz-Passarge syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          mouth disease 829
            tooth disease 296
              Tooth Abnormalities 154
                anodontia 40
                  Schopf-Schulz-Passarge syndrome 1
paths to the root