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Ontology Browser

Term:
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema (DOID:9003372)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Aagenaes syndrome 
Abruzzo Erickson Syndrome  
Achromatopsia Incomplete, X-Linked 
Adams-Oliver syndrome +   
ADULT syndrome  
agammaglobulinemia +   
Agammaglobulinemia, X-Linked, Type 2  
Aicardi syndrome 
Alpha-Thalassemia Myelodysplasia Syndrome  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alves Castelo dos Santos Syndrome 
Alzheimer's disease 16 
Anal Sphincter Dysplasia 
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Anhidrotic Ectodermal Dysplasia 1 +   
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Antibody Deficiency due to Defect in CD19 
Aplasia Cutis Congenita of Limbs Recessive 
Aplasia Cutis Congenita with Epibulbar Dermoids  
Aplasia Cutis Congenita with Intestinal Lymphangiectasia 
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
AREDYLD Syndrome 
Arthrogryposis and Ectodermal Dysplasia 
Arthrogryposis, X-Linked, Type V 
ataxia telangiectasia +   
Atypical Mycobacteriosis, Familial, X-Linked 1  
Atypical Mycobacteriosis, Familial, X-Linked 2  
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
Autosomal Dominant Osteopetrosis 3  
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  
B cell deficiency +   
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Basan Syndrome  
Bornholm Eye Disease 
Branchial Arch Syndrome X-Linked 
Breast Cancer Lymphedema +  
Bresheck/Bresek Syndrome 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
C1q Deficiency  
C9 Deficiency with Dermatomyositis 
CARD11 Immunodeficiency  
Cardiac Valvular Dysplasia, X-Linked  
cardiofaciocutaneous syndrome +   
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
cataract 40  
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
Cerebellar Ataxia Ectodermal Dysplasia 
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 
CHILD Syndrome  
Choanal Atresia and Lymphedema  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Choroideremia +   
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate with Ankyloglossia  
Clouston syndrome  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
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 +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Congenital Adrenal Hypoplasia with Precocious Puberty  
Congenital Alopecia X-Linked 
Congenital Ectodermal Dysplasia with Hearing Loss 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
Congenital Idiopathic Intestinal Pseudoobstruction  
Congenital Ptosis, Hereditary 2 
Corpus Callosum, Partial Agenesis of, X-Linked  
Craniofacioskeletal Syndrome 
Dahlberg Borer Newcomer Syndrome 
Davenport Donlan Syndrome 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
deafness-intellectual disability, Martin-Probst type syndrome  
Deltaretrovirus Infections +   
Dermatoosteolysis Kirghizian Type 
dermatopathia pigmentosa reticularis  
Dilated Cardiomyopathy 3A  
Distal Arthrogryposis Multiplex Congenita, X-Linked  
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant  
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE  
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE  
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS  
Ectodermal Dysplasia 4, Hair/Nail Type  
Ectodermal Dysplasia 7, Hair/Nail Type  
Ectodermal Dysplasia 9, Hair/Nail Type  
Ectodermal Dysplasia Adrenal Cyst 
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
Ectodermal Dysplasia, Pure Hair-Nail Type 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia, Trichoodontoonychial Type 
Ectodermal Dysplasia-Skin Fragility Syndrome  
Ectodermal Dysplasia-Syndactyly Syndrome +   
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
EEC syndrome +   
elephantiasis +  
Ellis-Van Creveld syndrome +   
Endotoxin Hyporesponsiveness  
Epidermodysplasia Verruciformis, X-Linked 
Episodic Muscle Weakness, X-Linked 
Erythropoietic Protoporphyria, X-Linked Dominant  
Euhidrotic Ectodermal Dysplasia 
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY  
External Ophthalmoplegia and Myopia 
Fabry disease +   
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
familial cold autoinflammatory syndrome +   
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
Fanconi-like syndrome  
favism  
Fetal Akinesia Syndrome, X-Linked 
Fg Syndrome 5 
focal dermal hypoplasia +   
Freire-Maia Odontotrichomelic Syndrome 
German Syndrome 
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
glycogen storage disease VIII 
Griscelli syndrome +   
Halal Setton Wang Syndrome 
Hay Wells Syndrome Recessive Type 
Hennekam syndrome +   
Hepatic Venoocclusive Disease with Immunodeficiency  
hereditary lymphedema +   
Hidrotic Ectodermal Dysplasia, Autosomal Recessive 
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 
Hodgkin Disease, X-Linked Pseudoautosomal 
human immunodeficiency virus infectious disease +   
Hydrocephalus with Cerebellar Agenesis 
Hypertrichosis Congenital Generalized X-Linked 
Hypogammaglobulinemia, X-Linked  
Hypoglobulinemia and Absent B Cells 
hypohidrotic ectodermal dysplasia +   
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency  
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
hypotrichosis-lymphedema-telangiectasia syndrome +   
Idiopathic Short Stature, X-Linked  
IL21R Immunodeficiency  
Immune Deficiency Disease  
Immune Deficiency, Familial Variable 
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  
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  
Intracranial Berry Aneurysm 5 
Invasive Pneumococcal Disease, Recurrent Isolated, 1  
Invasive Pneumococcal Disease, Recurrent Isolated, 2  
IRAK4 Deficiency  
Irons Bhan Syndrome 
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Johanson-Blizzard syndrome  
Jones Hersh Yusk Syndrome 
junctional epidermolysis bullosa with pyloric atresia  
Keipert Syndrome  
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Kotzot-Richter Syndrome 
Ladda Zonana Ramer syndrome 
Leigh Syndrome, X-Linked  
Lelis Syndrome 
Lichtenstein Syndrome 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Linear Skin Defects with Multiple Congenital Anomalies 3  
Liver Glycogenosis, X-Linked, Type II 
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
Lymphedema and Cerebral Arteriovenous Anomaly 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Lymphedema, Congenital Recessive 
lymphedema-distichiasis syndrome +   
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphoid System Deterioration, Progressive 
Lymphokine Deficiency 
lymphopenia +   
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 
lymphoproliferative syndrome +   
Macular Dystrophy, X-Linked +   
major affective disorder 2 
Marshall syndrome +   
MASP2 Deficiency  
Membranoproliferative Glomerulonephritis, X-Linked 
MEND Syndrome  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Microcephaly Microcornea Syndrome Seemanova Type 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microphthalmia, Syndromic 7  
Midline Defects, X-Linked 
Multiple Pterygium Syndrome, X-Linked 
MYD88 Deficiency  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Myopathy, Reducing Body, X-Linked, Childhood-Onset  
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe  
Myopia 1 
Myopia 13 
MYOPIA 26, X-LINKED, FEMALE-LIMITED  
Naegeli-Franceschetti-Jadassohn syndrome  
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect  
NEMO Mutation with Immunodeficiency 
Nephrogenic Syndrome of Inappropriate Antidiuresis  
Neural Tube Defects X-Linked 
Neurocutaneous Syndromes +   
Neutrophil Immunodeficiency Syndrome  
Nezelof syndrome 
Non-Filarial Lymphedema 
Nystagmus 1, Congenital, X- Linked  
Nystagmus 5, Infantile Periodic Alternating 
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
Opitz GBBB Syndrome, Type I  
optic atrophy 2 
ornithine carbamoyltransferase deficiency  
orofacial cleft 7 +   
Osteopetrosis and Infantile Neuroaxonal Dystrophy 
Osteopetrosis Lethal 
ovarian dysgenesis 2  
pachyonychia congenita +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Papillon-Lefevre disease +   
Parkinson's Disease 12 
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
phagocyte bactericidal dysfunction +   
Phosphoglycerate Kinase 1 Deficiency  
Photosensitive Trichothiodystrophy 1  
Pinheiro Freire-Maia Miranda Syndrome 
Premature Ovarian Failure 2a  
Primary Lymphedema with Myelodysplasia  
Progressive Hearing Loss Stapes Fixation  
Progressive Muscular Dystrophy, Pectorodorsal 
Properdin Deficiency, X-Linked  
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Proud Syndrome  
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
Rapp-Hodgkin syndrome  
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6 
Riddle syndrome  
Robinson Miller Bensimon Syndrome 
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rosselli-Gulienetti Syndrome 
Roy Maroteaux Kremp Syndrome 
Russell-Silver Syndrome, X-Linked 
Schimke immuno-osseous dysplasia  
Selective Tooth Agenesis, X-Linked, 1  
Sener Syndrome 
Sensenbrenner syndrome +   
Seres-Santamaria Arimany Muniz Syndrome 
Severe Congenital Neutropenia, X-Linked  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Sketetal Dysplasia Coarse Facies Mental Retardation 
Spina Bifida, X-Linked 
Spinocerebellar Ataxia, X-Linked 1  
Spinocerebellar Ataxia, X-Linked 5 
Spinocerebellar Ataxia, X-Linked, 3 
Splenic Hypoplasia  
split hand-foot malformation 2 
Spondyloepimetaphyseal Dysplasia, X-Linked  
Spondylometaphyseal Dysplasia, X-Linked 
Surfactant Metabolism Dysfunction, Pulmonary, 4  
T cell deficiency +  
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
T-Cell Receptor-Alpha/Beta Deficiency  
Taurodontia Absent Teeth Sparse Hair 
Terminal Osseous Dysplasia and Pigmentary Defects  
Testicular Germ Cell Tumor 1 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Thrombocytopenia 1  
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis  
Thrombocytosis, Familial X-Linked 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Trichodental Syndrome 
Trichoodontoonychial Dysplasia 
Trichoscyphodysplasia 
Trueb Burg Bottani Syndrome 
Tuftsin Deficiency 
VACTERL/VATER Association with Hydrocephalus  
Vasquez Hurst Sotos Syndrome 
Von Willebrand Disease, X-Linked Form 
Waldmann Disease 
Wells Jankovic Syndrome 
WHIM syndrome  
Whyte Murphy Fallon Sly syndrome 
Worth's syndrome  
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  
X-Linked Anemia without Thrombocytopenia 
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked congenital myopathy with fiber-type disproportion 
X-linked dilated cardiomyopathy  
X-linked distal spinal muscular atrophy 3  
X-linked dominant disease +   
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
X-linked exudative vitreoretinopathy 2  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-linked hypoparathyroidism 
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-Linked Panhypopituitarism  
X-linked recessive disease +   
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy  
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-Linked Thrombophilia, due to Factor IX Defect  
X-Linked Vesicoureteral Reflux 
Yunis-Varon syndrome  

Synonyms
Exact Synonyms: OLEDAID
Primary IDs: MESH:C564538
Alternate IDs: OMIM:300301 ;   RDO:0013470

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