loading...| Preferred Name |
Bjornstad syndrome |
| Synonyms |
deafness-pili torti-hypogonadism syndrome |
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050677 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
UMLS_CUI:C0266006 MESH:C537633 GARD:22 SNOMEDCT_US_2022_09_01:67817003 ORDO:123 OMIM:262000 |
| 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. |
| has exact synonym |
deafness-pili torti-hypogonadism syndrome BJS PTD |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050677 |
| in_subset | |
| label |
Bjornstad syndrome |
| notation |
DOID:0050677 |
| prefLabel |
Bjornstad syndrome |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/262000 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C537633 | Medical Subject Headings | LOOM |