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Term:
Immunodeficiency 78 with Autoimmunity and Developmental Delay (DOID:9001840)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
3MC syndrome 3  
Abuse Dwarfism Syndrome 
Acquired Pulmonary Alveolar Proteinosis  
Addison's disease +   
AGAT deficiency  
Al Gazali Sabrinathan Nair Syndrome 
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity  
AMED syndrome  
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis +   
Antibody Deficiency due to Defect in CD19 
antisynthetase syndrome  
Arboleda-Tham syndrome  
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
ataxia telangiectasia +   
autoimmune disease +   
autoimmune disease of blood +   
autoimmune disease of cardiovascular system +   
autoimmune disease of endocrine system +   
autoimmune disease of exocrine system +   
autoimmune disease of gastrointestinal tract +   
autoimmune disease of musculoskeletal system +   
autoimmune disease of the nervous system +   
autoimmune disease of urogenital tract +   
Autoimmune Hypophysitis 
autoimmune interstitial lung, joint, and kidney disease  
autoimmune lymphoproliferative syndrome +   
Autoimmune Progesterone Dermatitis 
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
Autoinflammation, Immune Dysregulation, and Eosinophilia  
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED  
autosomal dominant familial periodic fever  
B cell deficiency +   
Bagatelle Cassidy Syndrome 
Bainbridge-Ropers syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beck-Fahrner Syndrome  
Bosch-Boonstra-Schaaf optic atrophy syndrome  
brachycephaly, trichomegaly, and developmental delay  
C1q Deficiency +   
C9 Deficiency with Dermatomyositis 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM  
cerebellar hypoplasia +   
cerebellofaciodental syndrome  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome  
chromosome Xp11.23-p11.22 duplication syndrome 
CINCA syndrome  
Cleft Palate, Proliferative Retinopathy, and Developmental Delay  
Cohen syndrome  
combined immunodeficiency +   
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Combined Inflammatory and Immunologic Defect 
common variable immunodeficiency +   
complement deficiency +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY  
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Davenport Donlan Syndrome 
Deltaretrovirus Infections +   
dendritic cell deficiency +   
Der Kaloustian Mcintosh Silver Syndrome 
DeSanto-Shinawi syndrome  
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities  
Developmental Delay with or without Dysmorphic Facies and Autism  
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS  
developmental delay, hypotonia, and impaired language  
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES  
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome 
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Developmental Delay, Language Impairment, and Ocular Abnormalities  
Diabetes Mellitus, Congenital Autoimmune  
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
diphthamide deficiency syndrome +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
early-onset epilepsy 2  
ectodermal dysplasia and immune deficiency +   
Endotoxin Hyporesponsiveness  
epidermodysplasia verruciformis +   
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency  
Experimental Autoimmune Uveitis +   
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Familial Behcet-Like Autoinflammatory Syndrome +   
familial cold autoinflammatory syndrome +   
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
familial mediterranean fever +   
Fanconi-like syndrome  
Faundes-Banka Syndrome  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Frank-Ter Haar syndrome  
Gardner-Diamond Syndrome 
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Glycosylphosphatidylinositol Biosynthesis Defect 25  
Griscelli syndrome +   
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
hepatic venoocclusive disease with immunodeficiency  
Heyn-Sproul-Jackson Syndrome  
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME  
human immunodeficiency virus infectious disease +   
hypermethioninemia due to adenosine kinase deficiency  
Hypoglobulinemia and Absent B Cells 
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
hypotonia, ataxia, and delayed development syndrome  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
IgA glomerulonephritis +   
IgG4-related disease  
Immune Deficiency Disease  
Immune Deficiency, Familial Variable  
IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
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  
An autosomal recessive systemic disorder characterized by onset of symptoms in early childhood. Caused by homozygous or compound heterozygous mutation in the TPP2 gene on chromosome 13q33. (OMIM)
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  
Jaccoud's syndrome 
Keppen-Lubinsky Syndrome  
KINSSHIP syndrome  
KOHLSCHUTTER-TONZ SYNDROME-LIKE  
Kotzot-Richter Syndrome 
KURY-ISIDOR SYNDROME  
Lamb-Shaffer Syndrome  
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Li-Campeau Syndrome  
Lichtenstein Syndrome 
Linear IgA Bullous Dermatosis 
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome  
Luscan-Lumish Syndrome  
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphokine Deficiency 
lymphopenia +   
lymphoproliferative syndrome +   
membranous glomerulonephritis  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mosaic Variegated Aneuploidy Syndrome 5  
Multisystem Autoimmune Disease with Facial Dysmorphism  
Multisystem Autoimmune Disease, Infantile-Onset +   
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
NEMO Mutation with Immunodeficiency 
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY  
Nizon-Isidor Syndrome  
NK cell deficiency +   
Non-Lissencephalic Cortical Dysplasia 
Obesity, Hyperphagia, and Developmental Delay  
Ogden syndrome  
Oliver-McFarlane syndrome  
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay  
osteosclerotic metaphyseal dysplasia  
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
Partington Anderson Syndrome 
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections 
Periventricular Nodular Heterotopia 7  
phagocyte bactericidal dysfunction +   
Pierpont syndrome  
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME  
Progressive Lymphoid System Deterioration 
Pseudo-TORCH Syndrome +   
Rajab Interstitial Lung Disease with Brain Calcifications +   
Refsum Disease with Increased Pipecolic Acidemia 
Riddle syndrome  
Roifman Syndrome  
Roifman-Chitayat Syndrome  
Schimke immuno-osseous dysplasia  
Short Stature, Developmental Delay, and Congenital Heart Defects  
SHORT STATURE-MICROGNATHIA SYNDROME  
Siddiqi syndrome  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Snijders Blok-Fisher Syndrome  
Splenic Hypoplasia  
Spondyloenchondrodysplasia  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
succinic semialdehyde dehydrogenase deficiency  
T cell and NK cell immunodeficiency +   
T cell deficiency +   
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Thumb Agenesis, Short Stature, and Immunodeficiency 
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME  
Tuftsin Deficiency 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
VERVERI-BRADY SYNDROME  
VEXAS syndrome  
WEISS-KRUSZKA SYNDROME  
WHIM Syndrome +   
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
Zaki syndrome  

Synonyms
Exact Synonyms: IMD78 ;   TPP2 deficiency
Primary IDs: OMIM:619220

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