Metadata | |
---|---|
ID | DOID:1485 |
Name | cystic fibrosis |
Definition | A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs. https://www.genome.gov/Genetic-Disorders/Cystic-Fibrosis, http://www.nhlbi.nih.gov/health/health-topics/topics/cf/, http://ghr.nlm.nih.gov/condition/cystic-fibrosis, http://en.wikipedia.org/wiki/Cystic_fibrosis |
Xrefs |
SNOMEDCT_US_2023_03_01:85809002 |
SKOS |
exactMatch MESH:D003550 |
Alternateids |
DOID:12447 DOID:13383 DOID:14395 DOID:1484 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
CF [EXACT] mucoviscidosis [EXACT] |
Parent Relationships |
is_a syndrome |
Subclass Logical Relationships |
has material basis in exactly 1 (loss_of_function_variant and disease has location exactly 1 (gene)) has material basis in some autosomal recessive inheritance |