| Metadata | |
|---|---|
| ID | DOID:0050677 |
| Name | Bjornstad syndrome |
| Definition | A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:67817003 |
| Subsets |
DO_rare_slim |
| Synonyms |
BJS [EXACT] deafness-pili torti-hypogonadism syndrome [EXACT] PTD [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |