Boomerang dysplasia

Preferred Label : Boomerang dysplasia;

Symbol : BOOMD;

CISMeF acronym : BOOMD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the filamin-beta gene (FLNB, 603381.0009);

Prefixed ID : #112310;

Détails

Origin ID

112310;

UMLS CUI

C0432201;

Currated CISMeF NLP mapping
- Boomerang dysplasia [DO Concept]
- Boomerang dysplasia [ICD-11 More detail]
- Boomerang dysplasia [MeSH concept]
- Boomerang dysplasia [ORDO Disease]
- Boomerang dysplasia (disorder) [SNOMED CT concept]
- boomerang dysplasia [MeSH Supplementary Concept]
DO Cross reference
- Boomerang dysplasia [DO Concept]
Genes related to phenotype
- Filamin b [OMIM gene]
HPO term(s)
- Absent radius [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad nasal root [HPO term]
- Dwarfism [HPO term]
- Fibular aplasia [HPO term]
- Genu varus [HPO term]
- Hypoplastic iliac body [HPO term]
- Hypoplastic nares and septum [HPO term]
- Hypoplastic nasal septum [HPO term]
- Hypoplastic nostrils [HPO term]
- Neonatal death [HPO term]
- Severe short stature [HPO term]
- Small iliac bodies [HPO term]
- Underdeveloped nasal alae [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Boomerang dysplasia [ORDO Disease]
See also inter- (CISMeF)
- Piepkorn dysplasia [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Boomerang dysplasia [ORDO Disease]
- Boomerang dysplasia [MeSH concept]
- Boomerang dysplasia [DO Concept]
- Boomerang dysplasia [ICD-11 More detail]
- Boomerang dysplasia (disorder) [SNOMED CT concept]
- boomerang dysplasia [MeSH Supplementary Concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients