Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
arrhythmogenic right ventricular dysplasia 1  
arrhythmogenic right ventricular dysplasia 10  
arrhythmogenic right ventricular dysplasia 11  
arrhythmogenic right ventricular dysplasia 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 14  
arrhythmogenic right ventricular dysplasia 2  
arrhythmogenic right ventricular dysplasia 3 
arrhythmogenic right ventricular dysplasia 4 
arrhythmogenic right ventricular dysplasia 5  
arrhythmogenic right ventricular dysplasia 6 
arrhythmogenic right ventricular dysplasia 8  
arrhythmogenic right ventricular dysplasia 9  
Bamforth-Lazarus syndrome  
Bird Headed Dwarfism Montreal Type 
Bjornstad syndrome  
Bothnian type palmoplantar keratoderma  
Brachycephaly, Trichomegaly, and Developmental Delay  
Catatrichy 
Copper Deficiency, Familial Benign 
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
Dermoodontodysplasia 
familial isolated trichomegaly  
familial woolly hair syndrome +   
FLOTCH Syndrome 
focal nonepidermolytic palmoplantar keratoderma +   
focal or diffuse nonepidermolytic palmoplantar keratoderma  
folliculitis +   
Hairy Palms and Soles 
Hirsutism +   
hypertrichosis +   
hypotrichosis +   
Kaler Garrity Stern Syndrome 
Katsantoni Papadakou Lagoyanni Syndrome 
Kozlowski-Krajewska Syndrome 
Martinez Monasterio Pinheiro Syndrome 
Menkes disease +   
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
monilethrix +   
myofibrillar myopathy 1  
Naxos disease +   
A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. (DO)
Oculotrichodysplasia 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
photosensitive trichothiodystrophy 1  
Pili Annulati 
Pili Multigemini 
Pili Torti +   
Pseudofolliculitis Barbae  
Pseudomonilethrix 
pure hair and nail ectodermal dysplasia +   
Rodrigues Blindness 
Skin Fragility-Woolly Hair Syndrome  
superficial mycosis +  
tinea capitis +  
Tricho-Dento-Osseous Syndrome 1 
trichodontoosseous syndrome  
Trichodysplasia-Xeroderma 
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type III  
Trichostasis Spinulosa 
Uncombable Hair Syndrome +   
White Forelock with Malformations 

Synonyms
Exact Synonyms: Mal de Naxos ;   NXD ;   arrhythmogenic right ventricular cardiomyopathy with skin, hair, and nail abnormalities ;   keratosis palmoplantaris with arrhythmogenic cardiomyopathy ;   palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair ;   woolly hair, palmoplantar keratoderma, and cardiac abnormalities
Primary IDs: MESH:C538346
Alternate IDs: OMIM:601214
Xrefs: GARD:9795 ;   ORDO:34217
Definition Sources: https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes "DO" "DO", https://rarediseases.info.nih.gov/diseases/9795/disease "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29747658 "DO" "DO"

paths to the root