Riddle syndrome

Preferred Label : Riddle syndrome;

Symbol : RIDL;

CISMeF acronym : RIDL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Radiosensitivity, immunodeficiency, dysmorphic facial features, and learning difficulties;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ring finger protein 168 gene (RNF168, 612688.0001);

Laboratory abnormalities : Defect in double-stranded DNA repair; Increased alpha-fetoprotein; Cells show increased sensitivity to ionizing radiation;

Prefixed ID : #611943;

Détails

Origin ID

611943;

UMLS CUI

C2677792;

Automatic exact mappings (from CISMeF team)
- Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- RIDDLE syndrome [DO Concept]
- RIDDLE syndrome [ORDO Disease]
- riddle syndrome [MeSH concept]
- riddle syndrome [MeSH Supplementary Concept]
DO Cross reference
- RIDDLE syndrome [DO Concept]
Genes related to phenotype
- Ring finger protein 168 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating IgG level [HPO term]
- Dry skin [HPO term]
- Immunodeficiency [HPO term]
- Increased sensitivity to ionizing radiation [HPO term]
- Microcephaly [HPO term]
- Mild global developmental delay [HPO term]
- Pulmonary fibrosis [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- RIDDLE syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- RIDDLE syndrome [ORDO Disease]
- RIDDLE syndrome [DO Concept]
- Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (disorder) [SNOMED CT concept]
- riddle syndrome [MeSH Supplementary Concept]
- riddle syndrome [MeSH concept]

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

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