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Ontology Browser
Term:
epidermolysis bullosa with congenital localized absence of skin and deformity of nails (DOID:0111347)
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
agnathia-otocephaly complex  
arthrogryposis multiplex congenita +   
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
bladder exstrophy-epispadias-cloacal exstrophy complex +   
blepharophimosis +   
caudal regression syndrome  
cleft palate-lateral synechia syndrome 
Compton-North congenital myopathy  
congenital adrenal hyperplasia +   
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia +   
congenital aphakia  
congenital bilateral absence of vas deferens +   
congenital bile acid synthesis defect +   
congenital central hypoventilation syndrome +   
congenital chylothorax  
congenital contractural arachnodactyly  
congenital diaphragmatic hernia +   
congenital diarrhea +   
congenital disorder of glycosylation +   
congenital epulis 
congenital fibrosarcoma  
congenital fibrosis of the extraocular muscles +   
Congenital Foot Deformities +   
congenital generalized lipodystrophy +   
congenital granular cell tumor 
congenital heart block +   
congenital heart disease +   
congenital hemolytic anemia +   
congenital hereditary endothelial dystrophy of cornea  
congenital hypogammaglobulinemia 
congenital hypoplastic anemia +   
congenital hypothyroidism +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital intrinsic factor deficiency  
congenital lactase deficiency  
congenital leptin deficiency  
congenital megabladder  
congenital mesoblastic nephroma +   
congenital mirror movement disorder +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
congenital myopathy 4A +   
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
congenital stationary night blindness +   
congenital stromal corneal dystrophy  
congenital structural myopathy +   
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
cryptophthalmia +   
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. (DO)
gastroschisis +   
hypospadias +   
imperforate anus +   
Klippel-Feil syndrome +   
large congenital melanocytic nevus  
laryngomalacia +   
Leber congenital amaurosis +   
lethal congenital contracture syndrome +   
lethal congenital glycogen storage disease of heart  
Meckel's diverticulum 
MLS syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
myotonia congenita +   
neural tube defect +   
non-congenital cyst of kidney 
nonsyndromic congenital nail disorder +   
omphalocele  
orofacial cleft +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Poland syndrome 
polydactyly +   
primary congenital glaucoma +   
radioulnar synostosis +   
rapidly involuting congenital hemangioma 
severe congenital encephalopathy due to MECP2 mutation  
severe congenital neutropenia +   
Silver-Russell syndrome +   
spondyloepiphyseal dysplasia with congenital joint dislocations  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
TORCH syndrome 
visceral heterotaxy +   
Zika virus congenital syndrome 

Synonyms
Exact Synonyms: EBD, Bart type ;   epidermolysis bullosa dystrophica, Bart type
Primary IDs: MESH:C562638
Alternate IDs: OMIM:132000
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/5910871 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8618021 "DO" "DO"

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