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Ontology Browser
Term:
ectodermal dysplasia and immunodeficiency 1 (DOID:0081078)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
Aagenaes syndrome  
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  
Autosomal Recessive Osteopetrosis 9  
Breast Cancer Lymphedema +  
Choanal Atresia and Lymphedema  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Dahlberg Borer Newcomer Syndrome 
ectodermal dysplasia and immunodeficiency 1  
An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. (DO)
ectodermal dysplasia and immunodeficiency 2  
elephantiasis +   
German Syndrome 
Hennekam syndrome +   
hereditary lymphedema +   
hypotrichosis-lymphedema-telangiectasia syndrome +   
Lymphedema and Cerebral Arteriovenous Anomaly 
Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
lymphedema-distichiasis syndrome +   
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Non-Filarial Lymphedema 
Osteopetrosis and Infantile Neuroaxonal Dystrophy  
Osteopetrosis Lethal 
Primary Lymphedema with Myelodysplasia  
Roy Maroteaux Kremp Syndrome 
Waldmann Disease 
Whyte Murphy Fallon Sly syndrome 
Worth syndrome  

Synonyms
Exact Synonyms: EDA-ID ;   EDAID1 ;   Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency ;   HED-ID ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ;   Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency ;   OLEDAID ;   X-linked hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia ;   XHM-ED ;   anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema
Primary IDs: MESH:C536181
Alternate IDs: DOID:9005011 ;   MESH:C564538 ;   MESH:C564542 ;   MIM:300291
Xrefs: NCI:C118844 ;   ORDO:69088
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/31965418/ "DO" "DO"

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