Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expand
Dyslipidemias (D050171)
Parent Node:
expand
Erythema (D004890)
Parent Node:
expand
Growth Disorders (D006130)
Parent Node:
expand
Intellectual Disability (D008607)
Parent Node:
expand
Nail Diseases (D009260)
..Starting node
..expand
Hooft disease (C535329)

       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:5260
Name:Hooft disease
Definition:
Alternative IDs:
ParentIDs:MESH:D004890|MESH:D006130|MESH:D008607|MESH:D009260|MESH:D050171
TreeNumbers:C10.597.606.643/C535329 |C17.800.229/C535329 |C17.800.529/C535329 |C18.452.584.500/C535329 |C23.550.393/C535329 |C23.888.592.604.646/C535329 |F03.550.600/C535329
Synonyms:
Slim Mappings:Mental disorder|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease
Reference: MedGen: C535329
MeSH: C535329
OMIM: 236300;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0001507Growth abnormality
4 HP:0001249Intellectual disability
5 HP:0001820Leukonychia
6 HP:0000547obsolete Tapetoretinal degeneration
Disease Causing ClinVar Variants