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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
acrodermatitis +   
acute diffuse nephritis 
acute poststreptococcal glomerulonephritis 
acute proliferative glomerulonephritis +   
agammaglobulinemia +   
Anetoderma +   
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant  
anti-basement membrane glomerulonephritis  
Antibody Deficiency due to Defect in CD19 
ataxia telangiectasia +   
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
B cell deficiency +   
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Barber-Say syndrome  
Beare-Stevenson cutis gyrata syndrome  
Blepharophimosis Syndrome Type 1  
Blepharophimosis Syndrome Type 2  
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
blepharophimosis, ptosis, and epicanthus inversus syndrome  
Bloch-Sulzberger syndrome +   
Book Syndrome 
C1q Deficiency  
C9 Deficiency with Dermatomyositis 
CARD11 Immunodeficiency  
Carney complex +   
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
chronic rapidly progressive glomerulonephritis 
cocoon syndrome  
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Combined Inflammatory and Immunologic Defect 
combined T cell and B cell immunodeficiency +   
common variable immunodeficiency +   
complement component 9 deficiency  
complement deficiency +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
crescentic glomerulonephritis  
Cutaneous Hemangiomatosis with Associated Features 
Davenport Donlan Syndrome 
Deltaretrovirus Infections +   
Dermal Ridges, Nelson Syndrome 
Dermal Ridges, Patternless 
Dermoodontodysplasia 
diffuse glomerulonephritis +  
dyskeratosis congenita +   
Dyskeratosis, Hereditary Benign Intraepithelial 
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
Endotoxin Hyporesponsiveness  
epidermolysis bullosa +   
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erosive Arthropathy 
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY  
exudative glomerulonephritis 
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
familial cold autoinflammatory syndrome +   
Familial Dyskeratotic Comedones 
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
Familial Popliteal Pterygium Syndrome 
Fanconi-like syndrome  
focal embolic glomerulonephritis 
focal segmental glomerulosclerosis +   
glomerulosclerosis +   
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Griscelli syndrome +   
Hairy Palms and Soles 
Hepatic Venoocclusive Disease with Immunodeficiency  
Hereditary Sclerosing Poikiloderma +   
human immunodeficiency virus infectious disease +   
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations  
Hypoglobulinemia and Absent B Cells 
Hypohidrosis with Abnormal Palmar Dermal Ridges 
ichthyosis +   
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
IgA glomerulonephritis +   
IL21R Immunodeficiency  
Immune Deficiency Disease  
Immune Deficiency, Familial Variable 
immune-complex glomerulonephritis 
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS  
Immunodeficiency 12  
Immunodeficiency 14  
IMMUNODEFICIENCY 15A  
Immunodeficiency 15B  
Immunodeficiency 16  
Immunodeficiency 19  
Immunodeficiency 20  
Immunodeficiency 21  
Immunodeficiency 22  
Immunodeficiency 23  
IMMUNODEFICIENCY 24  
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES  
Immunodeficiency 27B  
IMMUNODEFICIENCY 28  
IMMUNODEFICIENCY 29  
Immunodeficiency 30  
Immunodeficiency 31A  
IMMUNODEFICIENCY 31B  
Immunodeficiency 31C  
Immunodeficiency 32A  
Immunodeficiency 32B  
Immunodeficiency 36  
Immunodeficiency 37  
Immunodeficiency 38, with Basal Ganglia Calcification  
Immunodeficiency 39  
Immunodeficiency 40  
Immunodeficiency 42  
Immunodeficiency 44  
Immunodeficiency 45  
Immunodeficiency 46  
Immunodeficiency 47  
Immunodeficiency 48  
Immunodeficiency 49  
Immunodeficiency 50  
Immunodeficiency 51  
Immunodeficiency 52  
Immunodeficiency 53  
Immunodeficiency 55  
Immunodeficiency 57  
Immunodeficiency 58  
Immunodeficiency 60  
Immunodeficiency 62  
Immunodeficiency 63 with Lymphoproliferation and Autoimmunity  
Immunodeficiency 64  
Immunodeficiency 65  
Immunodeficiency due to Defect in CD3-Epsilon  
Immunodeficiency due to Defect in CD3-Gamma  
Immunodeficiency due to Defect in CD3-Zeta  
Immunodeficiency due to Defect in MAPBP-Interacting Protein  
Immunodeficiency due to Ficolin 3 Deficiency  
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist 
Immunodeficiency without Anhidrotic Ectodermal Dysplasia  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin beta deficiency 
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Inosine Phosphorylase Deficiency, Immune Defect Due To 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Interleukin 2 Receptor, Alpha, Deficiency of  
Invasive Pneumococcal Disease, Recurrent Isolated, 1  
Invasive Pneumococcal Disease, Recurrent Isolated, 2  
IRAK4 Deficiency  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Kotzot-Richter Syndrome 
lethal restrictive dermopathy  
Lichtenstein Syndrome 
Linear Skin Defects with Multiple Congenital Anomalies +   
lipoid nephrosis  
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
lupus nephritis  
Lupus Vasculitis, Central Nervous System  
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphoid System Deterioration, Progressive 
Lymphokine Deficiency 
lymphopenia +   
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 
lymphoproliferative syndrome +   
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
MASP2 Deficiency  
membranous glomerulonephritis  
mesangial proliferative glomerulonephritis +   
Michelin Tire Baby Syndrome +   
multiple pterygium syndrome +   
MYD88 Deficiency  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect  
NEMO Mutation with Immunodeficiency 
Neonatal Systemic Lupus Erythematosus 
Neutrophil Immunodeficiency Syndrome  
Nezelof syndrome 
Oculocerebrocutaneous Syndrome 
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING  
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
phagocyte bactericidal dysfunction +   
poikiloderma with neutropenia  
Port-Wine Stain +   
Prolidase Deficiency  
proliferative glomerulonephritis 
Properdin Deficiency, X-Linked  
pseudoxanthoma elasticum +   
Pterygium Colli, Isolated 
rapidly progressive glomerulonephritis +  
Riddle syndrome  
Ridges-off-the-end Syndrome 
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Rothmund-Thomson syndrome +   
Schimke immuno-osseous dysplasia  
Sclerema Neonatorum 
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Skin/Hair/Eye Pigmentation, Variation In, 1  
Skin/Hair/Eye Pigmentation, Variation In, 10  
Skin/Hair/Eye Pigmentation, Variation In, 11  
Skin/Hair/Eye Pigmentation, Variation In, 4  
Skin/Hair/Eye Pigmentation, Variation In, 5  
Skin/Hair/Eye Pigmentation, Variation In, 6  
Skin/Hair/Eye Pigmentation, Variation In, 7  
Skin/Hair/Eye Pigmentation, Variation In, 8  
Skin/Hair/Eye Pigmentation, Variation In, 9  
Splenic Hypoplasia  
subacute glomerulonephritis 
Systemic Lupus Erythematosus 16  
Systemic Lupus Erythematosus with Nephritis 
T cell deficiency +  
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
T-Cell Receptor-Alpha/Beta Deficiency  
Thumb Agenesis, Short Stature, and Immunodeficiency 
Trichothiodystrophy Syndromes +   
Tuftsin Deficiency 
Urban Schosser Spohn Syndrome 
Vascular Hyalinosis 
WHIM syndrome  
Winter Shortland Temple Syndrome  
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
xeroderma pigmentosum +   

Synonyms
Exact Synonyms: C1QD ;   Complement Component C1q Deficiency
Primary IDs: OMIM:613652 ;   RDO:9000204

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