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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

GARD:6233

ICD10CM:E84

ICD9CM:277.0

MESH:D003550

MIM:219700

NCI:C2975

ORDO:586

SNOMEDCT_US_2023_03_01:85809002

UMLS_CUI:C0010674

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

is_a autosomal recessive disease

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

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