Olmsted syndrome 2 - CISMeF

" /> Olmsted syndrome 2 - CISMeF

CISMeF

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Olmsted syndrome 2OMIM Phenotype

Preferred Label : Olmsted syndrome 2;

Symbol : OLMS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2; PPKM2;

Prefixed ID : #619208;

Details

Origin ID

619208;

UMLS CUI

C5543096;

Genes related to phenotype
- P53 effector related to pmp22 [OMIM gene]
HPO term(s)
- Alopecia universalis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cheilitis [HPO term]
- Epidermal acanthosis [HPO term]
- Flexion contracture of digit [HPO term]
- Hyperkeratosis [HPO term]
- Infantile onset [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Parakeratosis [HPO term]
- Perioral hyperkeratosis [HPO term]
- Pruritus [HPO term]
- Sparse hair [HPO term]
- Woolly hair [HPO term]
ORDO concept(s)
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
09/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.

" /> Olmsted syndrome 2 - CISMeF

CISMeF

chu

Olmsted syndrome 2OMIM Phenotype

Preferred Label : Olmsted syndrome 2;

Symbol : OLMS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2; PPKM2;

Prefixed ID : #619208;

Details

Origin ID

619208;

UMLS CUI

C5543096;

Genes related to phenotype
- P53 effector related to pmp22 [OMIM gene]
HPO term(s)
- Alopecia universalis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cheilitis [HPO term]
- Epidermal acanthosis [HPO term]
- Flexion contracture of digit [HPO term]
- Hyperkeratosis [HPO term]
- Infantile onset [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Parakeratosis [HPO term]
- Perioral hyperkeratosis [HPO term]
- Pruritus [HPO term]
- Sparse hair [HPO term]
- Woolly hair [HPO term]
ORDO concept(s)
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
09/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.