Peeling skin syndrome 2

Preferred Label : Peeling skin syndrome 2;

Symbol : PSS2;

CISMeF acronym : APSS; PSS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acral peeling skin syndrome; Peeling skin syndrome, acral type; APSS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transglutaminase-5 gene (TGM5, 603805.0001);

Prefixed ID : #609796;

Détails

Origin ID

609796;

UMLS CUI

C1853354;

Automatic exact mappings (from CISMeF team)
- Acral peeling skin syndrome [MedDRA Preferred Term]
- Acral skin peeling syndrome [ICD-11 More detail]
- Associated Persons Subject Status Domain [NCIt concept]
- KLK3 wt Allele [NCIt concept]
- SH2B Adapter Protein 2 [NCIt concept]
- SH2B2 Gene [NCIt concept]
- phosphatidylserine synthase 2 [HGNC gene]
Broader ORDO disease(s)
- Peeling skin syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Acral peeling skin syndrome [ORDO Disease]
False automatic mappings
- Autoimmune polyendocrinopathy (disorder) [SNOMED CT concept]
Genes related to phenotype
- Transglutaminase 5 [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Erythema [HPO term]
- Histological abnormality of the skin [HPO term]
- Scaling skin [HPO term]
Not associated HPO term(s)
- Abnormality of the nail [HPO term]
ORDO concept(s)
- Acral peeling skin syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acral peeling skin syndrome [ORDO Disease]
- Acral peeling skin syndrome [MedDRA Preferred Term]
- Acral peeling skin syndrome (disorder) [SNOMED CT concept]
- acral peeling skin syndrome [Disease (Nov.)]
- peeling skin syndrome, acral type [MeSH Supplementary Concept]
- peeling skin syndrome, acral type [MeSH concept]
Validated automatic mappings to NTBT
- Acral peeling skin syndrome (disorder) [SNOMED CT concept]
- acral peeling skin syndrome [Disease (Nov.)]
- peeling skin syndrome, acral type [MeSH concept]
- peeling skin syndrome, acral type [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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