Schopf-schulz-passarge syndrome

Preferred Label : Schopf-schulz-passarge syndrome;

Symbol : SSPS;

CISMeF acronym : SSPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis; Eccrine tumors with ectodermal dysplasia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the wingless-type MMTV integration site family, member 10A gene (WNT10A, 606268.0002);

Neoplasia : Basal cell carcinoma; Squamous cell carcinoma;

Prefixed ID : #224750;

Détails

Origin ID

224750;

UMLS CUI

C1857069;

Automatic exact mappings (from CISMeF team)
- WNT10A wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Schopf-Schulz-Passarge syndrome [DO Concept]
- Schopf-Schulz-Passarge syndrome [MeSH concept]
- Schopf-Schulz-Passarge syndrome [MeSH Supplementary Concept]
- Schöpf-Schulz-Passarge syndrome [PASCAL descriptor]
- Schöpf-Schulz-Passarge syndrome [ICD-11 More detail]
- Schöpf-Schulz-Passarge syndrome [ORDO Disease]
- Schöpf-Schulz-Passarge syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Schopf-Schulz-Passarge syndrome [DO Concept]
Genes related to phenotype
- Wingless-type mmtv integration site family, member 10a [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Apocrine hidrocystoma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal cell carcinoma [HPO term]
- Bird-like facies [HPO term]
- Ectodermal dysplasia [HPO term]
- Hypodontia [HPO term]
- Hypotrichosis [HPO term]
- Longitudinal ridging [HPO term]
- Narrow nail [HPO term]
- Onycholysis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Poroma [HPO term]
- Ridged nail [HPO term]
- Small nail [HPO term]
- Sparse hair [HPO term]
- Squamous cell carcinoma [HPO term]
- Thin nail [HPO term]
ORDO concept(s)
- Schöpf-Schulz-Passarge syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Schopf-Schulz-Passarge syndrome [MeSH Supplementary Concept]
- Schopf-Schulz-Passarge syndrome [MeSH concept]
- Schopf-Schulz-Passarge syndrome [DO Concept]
- Schöpf-Schulz-Passarge syndrome [ORDO Disease]
- Schöpf-Schulz-Passarge syndrome [PASCAL descriptor]
- Schöpf-Schulz-Passarge syndrome (disorder) [SNOMED CT concept]

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