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Schopf-Schulz-Passarge syndrome - Ontology Report - Rat Genome Database

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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
 xref: MESH:C565607;   MIM:224750;   MONDO:0009145;   ORDO:50944

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Path 1
Term Annotations click to browse term
  disease 14641
    syndrome 10018
      ectodermal dysplasia 519
        Schopf-Schulz-Passarge syndrome 1
Path 2
Term Annotations click to browse term
  disease 14641
    Pathological Conditions, Signs and Symptoms 11556
      Signs and Symptoms 9740
        Neurologic Manifestations 9431
          sensory system disease 6685
            mouth disease 958
              tooth disease 429
                Tooth Abnormalities 286
                  tooth agenesis 82
                    anodontia 72
                      Schopf-Schulz-Passarge syndrome 1
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