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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 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 OMIM:224750
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
OMIM
ClinVar
PMID:17847007 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21484994 PMID:21834823 PMID:22581971 PMID:23167694 PMID:23401279 PMID:24033266 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28166811 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29364747 PMID:30426266 PMID:30569517 PMID:30974434 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      Schopf-Schulz-Passarge syndrome 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        sensory system disease 5599
          mouth disease 776
            tooth disease 297
              Tooth Abnormalities 156
                anodontia 42
                  Schopf-Schulz-Passarge syndrome 1
paths to the root