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Term:
hypohidrotic ectodermal dysplasia (DOID:14793)
Annotations: Rat: (13) Mouse: (12) Human: (12) Chinchilla: (12) Bonobo: (12) Dog: (11) Squirrel: (12) Pig: (12)
Parent Terms Term With Siblings Child Terms
anodontia +     
hypohidrosis +     
hypotrichosis +     
Adams-Oliver syndrome +   
ADULT syndrome  
Aloi Tomasini Isaia Syndrome 
alopecia +   
Alves Castelo dos Santos Syndrome 
Ameloonychohypohidrotic Syndrome 
Anal Sphincter Dysplasia 
anhidrosis +   
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anodontia of Permanent Dentition 
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 
autosomal recessive congenital ichthyosis 11  
Axenfeld-Rieger syndrome type 1  
Axenfeld-Rieger syndrome type 2 
Basan Syndrome  
Basaran Yilmaz Syndrome  
Bazex-Dupre-Christol Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Bresheck/Bresek Syndrome 
Brunoni Syndrome 
cardiofaciocutaneous syndrome +   
Cerebellar Ataxia Ectodermal Dysplasia 
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Deafness, and Oligodontia 
Clouston syndrome  
Congenital Ectodermal Dysplasia with Hearing Loss 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
congenital hypotrichosis with juvenile macular dystrophy  
Deafness Oligodontia Syndrome 
Deafness with Anhidrotic Ectodermal Dysplasia 
Dermatoosteolysis Kirghizian Type 
dermatopathia pigmentosa reticularis  
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis  
Dysmyelinating Leukodystrophy with Oligodontia 
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 15, Hypohidrotic/Hair Type  
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 +   
Ellis-Van Creveld syndrome +   
Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 
Euhidrotic Ectodermal Dysplasia 
focal dermal hypoplasia +   
Freire-Maia Odontotrichomelic Syndrome 
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
Halal Setton Wang Syndrome 
Harlequin Syndrome 
Hay Wells Syndrome Recessive Type 
Hidrotic Ectodermal Dysplasia, Autosomal Recessive 
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 
Hypodontia Oligodontia with Orofacial Cleft 
Hypohidrosis with Abnormal Palmar Dermal Ridges 
hypohidrotic ectodermal dysplasia +   
An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). (DO)
Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypotrichosis 1  
hypotrichosis 10 
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 14  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis and recurrent skin vesicles  
hypotrichosis of eyelid 
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
Hypotrichosis-Lymphedema-Telangiectasia Syndrome +   
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 
isolated anhidrosis with normal sweat glands  
Johanson-Blizzard syndrome  
Jones Hersh Yusk Syndrome 
junctional epidermolysis bullosa with pyloric atresia  
Ladda Zonana Ramer syndrome 
Lelis Syndrome 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Loucks-Innes Syndrome  
Mehta Lewis Patton Syndrome 
Microdontia Hypodontia Short Stature 
Naegeli Syndrome  
NEMO Mutation with Immunodeficiency 
Neurocutaneous Syndromes +   
Nicolaides Baraitser Syndrome  
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
Oligodontia-Colorectal Cancer Syndrome  
orofacial cleft 7 +   
pachyonychia congenita +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Papillon-Lefevre disease +   
Photosensitive Trichothiodystrophy 1  
Pinheiro Freire-Maia Miranda Syndrome 
Rapp-Hodgkin syndrome  
Robinson Miller Bensimon Syndrome 
Rombo syndrome 
Rosselli-Gulienetti Syndrome 
Schopf-Schulz-Passarge Syndrome  
Sener Syndrome 
Sensenbrenner syndrome +   
Seres-Santamaria Arimany Muniz Syndrome 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Single Upper Central Incisor  
Split-Hand and Split-Foot With Hypodontia 
Spondyloepimetaphyseal Dysplasia with Hypotrichosis 
Storm Syndrome 
Taurodontia Absent Teeth Sparse Hair 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Thai Symphalangism Syndrome 
Thumb Deformity, Alopecia, Pigmentation Anomaly 
tooth and nail syndrome  
Trichodental Syndrome 
Trichoodontoonychial Dysplasia 
Trichoscyphodysplasia 
Trueb Burg Bottani Syndrome 
Van Den Bosch Syndrome 
Woolly Hair, Autosomal Recessive 3  
X-Linked Hypodontia 
Yunis-Varon syndrome  
Zadik Barak Levin Syndrome 

Synonyms
Exact Synonyms: Christ-Siemens-Touraine Syndrome ;   anhidrotic ectodermal dysplasia 3 ;   hypohidrotic X-linked ectodermal dysplasia
Primary IDs: RDO:9004253
Xrefs: GARD:76 ;   NCI:C84562 ;   OMIM:PS300291 ;   ORDO:238468
Definition Sources: http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia, http://www.ncbi.nlm.nih.gov/books/NBK1112/, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468

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