Beukes hip dysplasia

Preferred Label : Beukes hip dysplasia;

Symbol : HDB;

CISMeF acronym : BFHD; BHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hip dysplasia, beukes type; Beukes familial hip dysplasia; Osteoarthropathy, premature degenerative, of hip; BFHD; BHD;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the UFM1-specific peptidase-2 gene (UFSP2, 611482.0001);

Prefixed ID : #142669;

Détails

Origin ID

142669;

UMLS CUI

C1840572;

Automatic exact mappings (from CISMeF team)
- BHD gene [LOINC component]
- Beukes familial hip dysplasia [ICD-11 More detail]
- Beukes hip dysplasia [DO Concept]
- Carmustine/Dacarbazine/Hydroxyurea Regimen [NCIt concept]
- FLCN wt Allele [NCIt concept]
- Folliculin [NCIt concept]
- folliculin [ORDO Gene]
- folliculin [HGNC gene]
- subutex [MeSH concept]
Currated CISMeF NLP mapping
- Hip dysplasia Beukes type (disorder) [SNOMED CT concept]
- Hip dysplasia, Beukes type [ORDO Disease]
- hip dysplasia, beukes type [MeSH concept]
- hip dysplasia, beukes type [MeSH Supplementary Concept]
DO Cross reference
- Beukes hip dysplasia [DO Concept]
Genes related to phenotype
- Ufm1-specific peptidase 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
- Broad femoral neck [HPO term]
- Childhood onset [HPO term]
- Flat capital femoral epiphysis [HPO term]
- Hip dysplasia [HPO term]
- Irregular capital femoral epiphysis [HPO term]
- Osteoarthritis [HPO term]
- Shallow acetabular fossae [HPO term]
- Wide proximal femoral metaphysis [HPO term]
- Widened proximal femoral metaphyses [HPO term]
ORDO concept(s)
- Hip dysplasia, Beukes type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beukes hip dysplasia [DO Concept]
- Hip dysplasia Beukes type (disorder) [SNOMED CT concept]
- Hip dysplasia, Beukes type [ORDO Disease]
- hip dysplasia, beukes type [MeSH Supplementary Concept]
- hip dysplasia, beukes type [MeSH concept]

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