Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
3-M syndrome +   
3MC syndrome +   
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs  
ABCD syndrome  
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
acrocapitofemoral dysplasia  
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
acute chest syndrome  
adult respiratory distress syndrome  
adult spinal muscular atrophy  
agenesis of the corpus callosum with peripheral neuropathy  
alpha 1-antitrypsin deficiency  
Alpha-2-Macroglobulin Deficiency  
alpha-2-plasmin inhibitor deficiency  
Alstrom syndrome  
alveolar echinococcosis 
amelogenesis imperfecta hypomaturation type 2A2  
amelogenesis imperfecta hypomaturation type 2A3  
amelogenesis imperfecta hypomaturation type 2A4  
amelogenesis imperfecta hypomaturation type 2A5  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
amelogenesis imperfecta type 2A1  
Amelogenesis Imperfecta Type 3C 
Amniotic Band Syndrome +  
annular pancreas  
Antley-Bixler syndrome +   
ARC syndrome  
arrhythmogenic right ventricular dysplasia 11  
asphyxia neonatorum +   
asphyxiating thoracic dystrophy +   
Athabaskan brainstem dysgenesis syndrome  
atrichia with papular lesions  
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
autoimmune pancreatitis  
autosomal recessive Alport syndrome  
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease cytochrome b-negative  
autosomal recessive chronic granulomatous disease cytochrome b-positive type I  
autosomal recessive chronic granulomatous disease cytochrome b-positive type II  
autosomal recessive chronic granulomatous disease cytochrome b-positive type III  
autosomal recessive congenital ichthyosis +   
Autosomal Recessive Cutis Laxa +   
autosomal recessive distal spinal muscular atrophy 1  
autosomal recessive distal spinal muscular atrophy 2  
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive early-onset Parkinson's disease 15  
autosomal recessive early-onset Parkinson's disease 23  
autosomal recessive early-onset Parkinson's disease 6  
autosomal recessive early-onset Parkinson's disease 7  
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive juvenile Parkinson's disease 2  
autosomal recessive limb-girdle muscular dystrophy +   
autosomal recessive non-syndromic intellectual disability +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
autosomal recessive Parkinson's disease 14  
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive polycystic kidney disease +   
autosomal recessive pseudohypoaldosteronism type 1  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
autosomal recessive Robinow syndrome  
autosomal recessive type IV Ehlers-Danlos syndrome 
Bacterial Lung Diseases +   
Bardet-Biedl syndrome +   
benign neonatal seizures +   
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
beta-ketothiolase deficiency  
Birth Injuries +   
Bjornstad syndrome  
Bloom syndrome  
Bowen-Conradi syndrome  
brachyolmia-amelogenesis imperfecta syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Caffey disease +   
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
capillariasis 
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
cartilage-hair hypoplasia  
CD3epsilon deficiency 
CD3gamma deficiency 
CD40 deficiency  
CEDNIK syndrome  
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Chediak-Higashi syndrome +   
CHOPS SYNDROME  
chronic granulomatous disease +   
cleft lip-palate-ectodermal dysplasia syndrome  
Cockayne syndrome +   
cold-induced sweating syndrome +   
Colic 
congenital disorder of glycosylation type IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
Congenital Heart Defects, and Other Congenital Anomalies  
Congenital Hyperinsulinism +   
congenital nystagmus +   
congenital syphilis +  
congenital toxoplasmosis 
craniolenticulosutural dysplasia  
Cutis Laxa-Marfanoid Syndrome 
Cystic Adenomatoid Malformation of Lung, Congenital 
Cystic Disease of Lung 
cystic echinococcosis 
cystic fibrosis +   
An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
dilated cardiomyopathy with woolly hair and keratoderma +   
dirofilariasis 
Donnai-Barrow syndrome  
Donohue syndrome +   
Ehlers-Danlos syndrome progeroid type +   
Ellis-Van Creveld syndrome +   
endocrine pancreas disease +   
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
exocrine pancreatic insufficiency +   
familial erythrocytosis 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
fetal erythroblastosis +   
fibular hypoplasia and complex brachydactyly  
Fraser syndrome +   
Fungal Lung Diseases +   
Galloway-Mowat syndrome +   
gangliosidosis +   
Griscelli syndrome +   
Hemoptysis 
hepatopulmonary syndrome  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
Hermansky-Pudlak syndrome +   
hydrolethalus syndrome +   
hydrophthalmos +   
Hyperglycinemia, Transient Neonatal 
hyperlucent lung 
Hyperparathyroidism, Neonatal Severe Primary  
hypertelorism, microtia, facial clefting syndrome 
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
ichthyosis +   
immunodeficiency-centromeric instability-facial anomalies syndrome +   
Infantile Hypercalcemia +   
interstitial lung disease +   
JMP syndrome  
Johanson-Blizzard syndrome  
Kahrizi syndrome  
Kashani Strom Utley Syndrome 
Laron syndrome +   
Laurence-Moon syndrome  
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
lung abscess 
Lung Agenesis  
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
Lung Injury +   
Lung Neoplasms +   
Lymphangiectasia, Pulmonary, Congenital 
lymphangioleiomyomatosis  
maple bark strippers' lung 
Marinesco-Sjogren syndrome  
Matthew-Wood syndrome  
meconium aspiration syndrome  
Meconium Ileus  
Meier-Gorlin syndrome +   
microphthalmia with limb anomalies  
middle lobe syndrome  
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4A  
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial pyruvate carrier deficiency  
Mobius syndrome +   
mulibrey nanism  
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
myofibrillar myopathy 1  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
neonatal abstinence syndrome 
Neonatal Alloimmune Thrombocytopenia  
neonatal anemia +   
neonatal diabetes mellitus +   
neonatal diabetes mellitus with congenital hypothyroidism  
Neonatal Hyperbilirubinemia +   
Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 
Neonatal Inflammatory Skin and Bowel Disease +   
Neonatal Pulmonary Hypertension  
Neonatal Sepsis 
nephronophthisis +   
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
neurohypophyseal diabetes insipidus +   
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET  
newborn respiratory distress syndrome +   
Nijmegen breakage syndrome +   
nonphotosensitive trichothiodystrophy +   
obstructive lung disease +   
oculocutaneous albinism +   
ophthalmia neonatorum 
opisthorchiasis  
orofaciodigital syndrome V  
osteoporosis-pseudoglioma syndrome  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
pancreatic agenesis  
Pancreatic Cyst +   
Pancreatic Fistula  
Pancreatic Lipase Deficiency  
Pancreatic Lipomatosis Duodenal Stenosis 
pancreatic mucinous ductal ectasia 
Pancreatic Neoplasms +   
pancreatic steatorrhea 
pancreatitis +   
paracoccidioidomycosis +   
Parasitic Lung Diseases +  
Pendred syndrome  
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
permanent neonatal diabetes mellitus +   
Perrault syndrome +   
persistent fetal circulation syndrome  
phaeohyphomycosis +  
PHARC syndrome  
Pierson syndrome  
pneumonia +   
pneumonic plague 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Posttransfusion Purpura  
Premature Infant Diseases +   
progeria +   
prothrombin deficiency +   
pseudo-TORCH syndrome 1  
pseudoxanthoma elasticum +   
pulmonary alveolar microlithiasis  
pulmonary alveolar proteinosis +   
pulmonary artery disease +   
Pulmonary Atelectasis +   
pulmonary edema +   
pulmonary eosinophilia +   
pulmonary fibrosis +   
Pulmonary Function 
Pulmonary Hemorrhage +   
pulmonary hemosiderosis 
pulmonary hypertension +   
pulmonary immaturity 
pulmonary plasma cell granuloma  
pulmonary systemic sclerosis 
pulmonary tuberculosis +   
pulmonary venoocclusive disease +   
rapadilino syndrome  
renal-hepatic-pancreatic dysplasia +   
respiratory failure +   
rhizomelic chondrodysplasia punctata +   
Riddle syndrome  
Roberts syndrome  
Rothmund-Thomson syndrome +   
salt and pepper syndrome  
SC phocomelia syndrome  
Schwartz-Jampel syndrome 1  
scimitar syndrome +   
Sclerema Neonatorum 
Seckel syndrome +   
Sengers syndrome  
Senior-Loken syndrome +   
Sensenbrenner syndrome +   
severe combined immunodeficiency +   
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
silo filler's disease 
Sjogren-Larsson syndrome +   
Sotos syndrome +   
sparganosis 
spermatogenic failure 9  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type 
strongyloidiasis  
temtamy preaxial brachydactyly syndrome  
Tetra-Amelia with Pulmonary Hypoplasia 
thalassemia +   
thanatophoric dysplasia +   
thiamine-responsive megaloblastic anemia syndrome  
toxocariasis +   
transient neonatal thrombocytopenia 
trimethylaminuria  
triple-A syndrome  
umbilical hernia +   
urofacial syndrome +   
Usher syndrome +   
UV-sensitive syndrome +   
Vici syndrome  
vitamin K deficiency bleeding  
Warburg micro syndrome +   
Werner syndrome +   
Wolcott-Rallison syndrome  
Wolman disease +   
xeroderma pigmentosum +   

Synonyms
Exact Synonyms: CF ;   Cystic Fibrosis of Pancreas ;   Fibrocystic Disease of Pancreas ;   Mucoviscidosis ;   Pancreas Fibrocystic Disease ;   Pancreas Fibrocystic Diseases ;   Pancreatic Cystic Fibrosis ;   Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis ;   Pulmonary Cystic Fibrosis
Narrow Synonyms: Nonclassic cystic fibrosis
Related Synonyms: SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
Primary IDs: MESH:D003550 ;   RDO:0002797
Alternate IDs: OMIM:219700
Xrefs: GARD:6233
Definition Sources: MESH:D003550, http://en.wikipedia.org/wiki/Cystic_fibrosis, http://ghr.nlm.nih.gov/condition/cystic-fibrosis, http://www.nhlbi.nih.gov/health/health-topics/topics/cf/

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.