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:
expandBrachydactyly (D059327)
Parent Node:
expandNail Diseases (D009260)
..Starting node
..expandBrachydactyly type A5 nail dysplasia (C537091)

       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:1418
Name:Brachydactyly type A5 nail dysplasia
Definition:
Alternative IDs:
ParentIDs:MESH:D009260|MESH:D059327
TreeNumbers:C05.660.585.262/C537091 |C16.131.621.585.262/C537091 |C17.800.529/C537091
Synonyms:Absent middle phalanges of digits 2-5 with nail dysplasia |Brachydactyly, Type A5, With Nail Dysplasia
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Skin disease
Reference: MedGen: C537091
MeSH: C537091
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants