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Term:
complement factor I deficiency (DOID:0050419)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
genetic disease +     
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
apparent mineralocorticoid excess syndrome  
Aquaporin 1 Deficiency 
aspartylglucosaminuria  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
atypical hemolytic-uremic syndrome  
autoimmune lymphoproliferative syndrome +   
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
C1 inhibitor deficiency +   
CADASIL +   
CAKUT2  
cataract 23  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
CHARGE syndrome  
chromosomal disease +   
complement component 2 deficiency  
complement component 3 deficiency  
Complement Component 4, Partial Deficiency Of  
complement component 4A deficiency  
complement component 4B deficiency  
complement component 5 deficiency  
complement component 6 deficiency  
complement component 7 deficiency  
complement component 9 deficiency  
Complement Component C1r/C1s Deficiency +   
Complement Factor B Deficiency  
Complement Factor D Deficiency  
complement factor I deficiency  
A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency. (DO)
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
complex cortical dysplasia with other brain malformations 7  
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
desquamative interstitial pneumonia  
Dwarfism +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
frontotemporal dementia and/or amyotrophic lateral sclerosis-3  
frontotemporal dementia and/or amyotrophic lateral sclerosis-4  
Genetic Skin Diseases +   
hereditary angioedema +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hypogonadotropic hypogonadism 5 with or without anosmia +   
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies  
Lennox-Gastaut syndrome  
Marfan syndrome +   
monogenic disease +   
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
polygenic disease +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
pulmonary alveolar microlithiasis  
Sacral Agenesis with Vertebral Anomalies  
type I complement component 8 deficiency  
type II complement component 8 deficiency  
X-linked properdin deficiency  
yellow nail syndrome +  

Synonyms
Exact Synonyms: C3 inactivator deficiency ;   CFID ;   complement component 3 inactivator deficiency
Primary IDs: MESH:C572568
Alternate IDs: OMIM:610984 ;   RDO:0012091
Definition Sources: https://www.omim.org/entry/610984 "DO"

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