Bdv syndrome - CISMeF

Preferred Label : Bdv syndrome;

Symbol : BDVS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual developmental disorder and hypogonadotropic hypogonadism; Blakemore-durmaz-vasileiou syndrome; IDDHH;

Prefixed ID : #619326;

Details

Origin ID

619326;

UMLS CUI

C5543403;

Currated CISMeF NLP mapping
- CPE-related Prader-Willi-like syndrome [ORDO Disease]
Genes related to phenotype
- Carboxypeptidase e [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Central hypothyroidism [HPO term]
- Cryptorchidism [HPO term]
- Decreased circulating follicle stimulating hormone concentration [HPO term]
- Decreased circulating free T4 level [HPO term]
- Decreased serum testosterone concentration [HPO term]
- Decreased thyroid-stimulating hormone level [HPO term]
- Delayed puberty [HPO term]
- Full cheeks [HPO term]
- Gynecomastia [HPO term]
- Hyperinsulinemia [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Infantile muscular hypotonia [HPO term]
- Intellectual disability [HPO term]
- Macrotia [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Motor delay [HPO term]
- Obesity [HPO term]
- Primary amenorrhea [HPO term]
- Reduced TSH response to thyrotrophin-releasing hormone stimulation test [HPO term]
- Round face [HPO term]
- Type II diabetes mellitus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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