Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAnodontia (D000848)
Parent Node:
expandEpidermolysis Bullosa Simplex (D016110)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandNail Diseases (D009260)
..Starting node
..expandEpidermolysis bullosa, late-onset localized junctional, with mental retardation (C535492)

       Child Nodes:



 Sister Nodes: 
..expandAl Gazali Hirschsprung syndrome (C535615)
..expandBasaran Yilmaz syndrome (C537660)
..expandBrachydactyly type A5 nail dysplasia (C537091)
..expandCandidiasis, Familial, 3 (C564361)
..expandDermatopathia pigmentosa reticularis (C535374)
..expandDouble Nail for Fifth Toe (C565090)
..expandECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..expandEndothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..expandEpidermolysis bullosa, late-onset localized junctional, with mental retardation (C535492)
..expandFLOTCH syndrome (C537065)
..expandHooft disease (C535329)
..expandJudge Misch Wright syndrome (C537692)
..expandKeratoderma palmoplantar spastic paralysis (C536153)
..expandLeukonychia totalis (C535889)
..expandNail dysplasia, isolated congenital (C538333)
..expandNail-Patella Syndrome (D009261) Child1
..expandNails, Ingrown (D009263)
..expandOdontomicronychial dysplasia (C537741)
..expandOnychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..expandOnycholysis (D054039) Child3
..expandOnychomycosis (D014009)
..expandPachyonychia Congenita (D053549) Child5
..expandParonychia (D010304)
..expandPatel Bixler syndrome (C536306)
..expandPectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..expandSubungual exostoses (C535723)
..expandT-cell immunodeficiency, congenital alopecia and nail dystrophy (C536781)
..expandToenail Dystrophy, Isolated (C564384)
..expandTrichoodontoonychial Dysplasia (C564760)
..expandTRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
..expandTwenty-Nail Dystrophy (C562907)
..expandYellow Nail Syndrome (D056684) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3829
Name:Epidermolysis bullosa, late-onset localized junctional, with mental retardation
Definition:
Alternative IDs:
ParentIDs:MESH:D000848|MESH:D008607|MESH:D009260|MESH:D016110
TreeNumbers:C07.650.800.100/C535492 |C07.793.700.100/C535492 |C10.597.606.643/C535492 |C16.131.831.493.180/C535492 |C16.131.850.800.100/C535492 |C16.320.850.275.180/C535492 |C17.800.529/C535492 |C17.800.804.493.180/C535492 |C17.800.827.275.180/C535492 |C17.800.865.410.180/C5
Synonyms:Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Mental disorder|Mouth disease|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C535492
MeSH: C535492
OMIM: 226440;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003584Late onset
3 HP:0000164Abnormality of the dentition
4 HP:0000175Cleft palate
5 HP:0001810Dystrophic toenail
6 HP:0001249Intellectual disability
7 HP:0001132Lens subluxation
8 HP:0000303Mandibular prognathia
9 HP:0000322Short philtrum
10 HP:0000215Thick upper lip vermilion
11 HP:0000219Thin upper lip vermilion
Disease Causing ClinVar Variants