Naegeli-franceschetti-jadassohn syndrome

Preferred Label : Naegeli-franceschetti-jadassohn syndrome;

Symbol : NFJS;

CISMeF acronym : NFJS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Naegeli syndrome; Nfj syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin-14 gene (KRT14, 148066.0015);

Prefixed ID : #161000;

Détails

Origin ID

161000;

UMLS CUI

C0343111;

Automatic exact mappings (from CISMeF team)
- Naegeli Franceschetti Jadassohn syndrome [PASCAL descriptor]
- Naegeli-Franceschetti-Jadassohn syndrome [ICD-11 More detail]
- Naegeli-Franceschetti-Jadassohn syndrome [DO Concept]
Currated CISMeF NLP mapping
- Naegeli syndrome [MeSH concept]
- Naegeli-Franceschetti-Jadassohn syndrome [ORDO Disease]
- Naegeli-Franceschetti-Jadassohn syndrome (disorder) [SNOMED CT concept]
- naegeli syndrome [MeSH Supplementary Concept]
DO Cross reference
- Naegeli-Franceschetti-Jadassohn syndrome [DO Concept]
Genes related to phenotype
- Keratin 14, type I [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Carious teeth [HPO term]
- Fragile nails [HPO term]
- Heat intolerance [HPO term]
- Hypohidrosis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Premature loss of teeth [HPO term]
- Reticular hyperpigmentation [HPO term]
ORDO concept(s)
- Naegeli-Franceschetti-Jadassohn syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Naegeli syndrome [MeSH concept]
- Naegeli-Franceschetti-Jadassohn syndrome [ORDO Disease]
- Naegeli-Franceschetti-Jadassohn syndrome [DO Concept]
- Naegeli-Franceschetti-Jadassohn syndrome (disorder) [SNOMED CT concept]
- naegeli syndrome [MeSH Supplementary Concept]

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