Rosselli-gulienetti syndrome

Preferred Label : Rosselli-gulienetti syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the poliovirus receptor-like 1 gene (PVRL1, 600644.0002);

Prefixed ID : 225000;

Details

Origin ID

225000;

UMLS CUI

C0796139;

Automatic exact mappings (from CISMeF team)
- Rosselli-Gulienetti syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Rosselli-Gulienetti syndrome [MeSH concept]
- Rosselli-Gulienetti syndrome [MeSH Supplementary Concept]
- Rosselli-Gulienetti syndrome [ORDO Disease]
HPO term(s)
- Abnormality of the ear [HPO term]
- Abnormality of the philtrum [HPO term]
- Anodontia [HPO term]
- Anteverted ears [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Cutaneous syndactyly of toes [HPO term]
- Global developmental delay [HPO term]
- Hypodontia [HPO term]
- Hypohidrosis [HPO term]
- Hypohidrosis may be present [HPO term]
- Microdontia [HPO term]
- Nail dysplasia [HPO term]
- Onychodysplasia may be present [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Progressive hypotrichosis [HPO term]
- Psychomotor retardation [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
ORDO concept(s)
- Rosselli-Gulienetti syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rosselli-Gulienetti syndrome [ORDO Disease]
- Rosselli-Gulienetti syndrome [MeSH Supplementary Concept]
- Rosselli-Gulienetti syndrome [MeSH concept]

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