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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Abdominal Chemodectomas with Cutaneous Angiolipomas 
acanthoma +   
allergic contact dermatitis +   
Antibody Deficiency due to Defect in CD19 
ataxia telangiectasia +   
autoimmune disease +   
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
Autoinflammation, Immune Dysregulation, and Eosinophilia  
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED  
AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME  
autosomal dominant familial periodic fever  
B cell deficiency +   
Banti's Syndrome  
Bazex-Dupre-Christol Syndrome 
Becker Nevus Syndrome  
Blue Rubber Bleb Nevus Syndrome  
Brooke-Spiegler syndrome  
C1q Deficiency +   
C9 Deficiency with Dermatomyositis 
Calcifying Epithelial Odontogenic Tumor 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
combined immunodeficiency +   
Combined Inflammatory and Immunologic Defect 
complement deficiency +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Davenport Donlan Syndrome 
Deltaretrovirus Infections +   
dendritic cell deficiency +   
dermatopathia pigmentosa reticularis  
ectodermal dysplasia and immune deficiency +   
Endotoxin Hyporesponsiveness  
epidermodysplasia verruciformis +   
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Familial Behcet-Like Autoinflammatory Syndrome +   
familial cold autoinflammatory syndrome +   
Familial Cutaneous Collagenoma  
Familial Cutaneous Papillomatosis 
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
Familial Multiple Trichodiscomas 
Fanconi-like syndrome  
A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. (DO)
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Griscelli syndrome +   
Hamartoma, Precalcaneal Congenital Fibrolipomatous 
hepatic venoocclusive disease with immunodeficiency  
Hereditary Leiomyomatosis and Renal Cell Cancer  
human immunodeficiency virus infectious disease +   
Hypoglobulinemia and Absent B Cells 
Immune Deficiency Disease  
Immune Deficiency, Familial Variable  
IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)  
Immunodeficiency 102  
Immunodeficiency 103  
Immunodeficiency 106  
Immunodeficiency 107  
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION  
Immunodeficiency 109  
Immunodeficiency 111  
Immunodeficiency 112  
Immunodeficiency 113  
Immunodeficiency 114  
Immunodeficiency 115  
Immunodeficiency 117  
Immunodeficiency 118  
IMMUNODEFICIENCY 15 +   
immunodeficiency 18  
immunodeficiency 20  
immunodeficiency 21  
immunodeficiency 27A  
immunodeficiency 27B  
immunodeficiency 28  
immunodeficiency 29  
immunodeficiency 31A  
immunodeficiency 31B  
immunodeficiency 31C  
immunodeficiency 35  
immunodeficiency 38  
immunodeficiency 39  
immunodeficiency 42  
immunodeficiency 43  
immunodeficiency 44  
immunodeficiency 45  
immunodeficiency 47  
immunodeficiency 51  
immunodeficiency 57  
immunodeficiency 65  
immunodeficiency 66  
Immunodeficiency 67  
Immunodeficiency 68  
Immunodeficiency 75  
Immunodeficiency 76  
Immunodeficiency 77  
Immunodeficiency 78 with Autoimmunity and Developmental Delay  
Immunodeficiency 80  
Immunodeficiency 81  
Immunodeficiency 82  
Immunodeficiency 83  
Immunodeficiency 84  
Immunodeficiency 85  
Immunodeficiency 86  
Immunodeficiency 87 and Autoimmunity  
Immunodeficiency 88  
Immunodeficiency 89 and Autoimmunity  
IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION  
Immunodeficiency 92  
Immunodeficiency 93  
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies  
Immunodeficiency 95  
Immunodeficiency 96  
Immunodeficiency 97 with Autoinflammation  
Immunodeficiency 98 with Autoinflammation, X-Linked  
Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias  
Immunodeficiency due to Defect in MAPBP-Interacting Protein  
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist 
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  
Inosine Phosphorylase Deficiency, Immune Defect Due To 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Kotzot-Richter Syndrome 
large congenital melanocytic nevus  
Lichtenstein Syndrome 
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome  
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphokine Deficiency 
lymphopenia +   
lymphoproliferative syndrome +   
Myelocerebellar Disorder  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
NEMO Mutation with Immunodeficiency 
NK cell deficiency +   
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal  
Pancytopenia and Occlusive Vascular Disease 
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
Phacomatosis Pigmentokeratotica 
phagocyte bactericidal dysfunction +   
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME  
Progressive Lymphoid System Deterioration 
Progressive Mucinous Histiocytosis 
Reactive Angioendotheliomatosis 
Riddle syndrome  
Roifman Syndrome  
Roifman-Chitayat Syndrome  
Rombo Syndrome 
Sackey Sakati Aur Syndrome 
Schimke immuno-osseous dysplasia  
Sclerotylosis  
sebaceous gland neoplasm +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
skin benign neoplasm +   
skin cancer +   
Splenic Hypoplasia  
Sweat Gland Neoplasms +   
T cell and NK cell immunodeficiency +   
T cell deficiency +   
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
Thumb Agenesis, Short Stature, and Immunodeficiency 
Trichoepithelioma, Multiple Familial, 2  
Trichoepitheliomas, Multiple Desmoplastic 
Trichofolliculoma 
Tufted Angioma  
Tuftsin Deficiency 
WHIM Syndrome +   
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 

Synonyms
Primary IDs: MESH:C536855
Alternate IDs: OMIM:227850 ;   RDO:0002566
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/4692131 "DO" "DO"

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