Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.
Synonyms: Hearing loss-pili torti-hypogonadism syndrome Deafness-pili torti-hypogonadism syndrome
This is just here as a test because I lose it
Term information
database cross reference
- MeSH:C537633 (E (Exact mapping: the two concepts are equivalent))
- OMIM:262000 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C0266006 (E (Exact mapping: the two concepts are equivalent))
Term relations
Subclass of:
- disease
- present_in some Worldwide and has_point_prevalence_range some <1 / 1 000 000
- present_in some Worldwide and has_cases/families_value value 33.0
- has_inheritance some autosomal recessive
- part_of some Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
- part_of some Syndromic hair shaft abnormality
- has_age_of_onset some infancy
- has_age_of_onset some neonatal