B-cell immunodeficiency, distal limb anomalies, and urogenital malformations

Preferred Label : B-cell immunodeficiency, distal limb anomalies, and urogenital malformations;

Symbol : BILU;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bilu syndrome; Hoffman syndrome;

Description : The BILU syndrome comprises humoral immunodeficiency, distal limb anomalies, dysmorphic facial features, and urogenital malformations inherited in an autosomal dominant pattern. The disorder referred to as Hoffman syndrome shows many similar features, suggesting that they represent the same disorder (summary by Hugle et al., 2011).;

Prefixed ID : #609296;

Détails

Origin ID

609296;

UMLS CUI

C1836437;

Automatic exact mappings (from CISMeF team)
- Kocher-Debre-Semelaigne syndrome [ICD-11 More detail]
- Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) [SNOMED CT concept]
- Muscular pseudohypertrophy-hypothyroidism syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- B-Cell immunodeficiency, distal limb anomalies, and urogenital malformations [MeSH concept]
- B-Cell immunodeficiency, distal limb anomalies, and urogenital malformations [MeSH Supplementary Concept]
- B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) [SNOMED CT concept]
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome [ORDO Disease]
Genes related to phenotype
- Topoisomerase, dna, II, beta [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- B-Cell immunodeficiency, distal limb anomalies, and urogenital malformations [MeSH Supplementary Concept]
- B-Cell immunodeficiency, distal limb anomalies, and urogenital malformations [MeSH concept]
- B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) [SNOMED CT concept]

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

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