Ciliary dyskinesia, primary, 55

Preferred Label : Ciliary dyskinesia, primary, 55;

Symbol : CILD55;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Azoospermia, obstructive, and chronic sinopulmonary infections; Sinusitis-infertility syndrome; Barry-perkins-young syndrome; Young syndrome;

Description : Young syndrome is characterized by chronic sinopulmonary infections, persistent azoospermia, and normal spermatogenesis (Handelsman et al., 1984).;

Inheritance : Autosomal recessive;

Prefixed ID : #279000;

Details

Origin ID

279000;

UMLS CUI

C0340037;

Automatic exact mappings (from CISMeF team)
- Young syndrome [ICD-11 Subcategory]
Currated CISMeF NLP mapping
- Young Syndrome [MeSH concept]
- Young syndrome [ORDO Disease]
- Young's syndrome [MedDRA Preferred Term]
- Young's syndrome (disorder) [SNOMED CT concept]
- young syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Cilia- and flagella-associated protein 221 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Azoospermia [HPO term]
- Bronchiectasis [HPO term]
- Congenital cystic disease of the lung [HPO term]
- Congenital pulmonary airway malformation [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent sinopulmonary infections [HPO term]
ORDO concept(s)
- Young syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Young Syndrome [MeSH concept]
- Young syndrome [ORDO Disease]
- Young's syndrome [MedDRA Preferred Term]
- Young's syndrome (disorder) [SNOMED CT concept]
- young syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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