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:
expandAlopecia (D000505)
Parent Node:
expandAnodontia (D000848)
Parent Node:
expandPigmentation Disorders (D010859)
..Starting node
..expandThumb deformity, alopecia, pigmentation anomaly (C536904)

       Child Nodes:



 Sister Nodes: 
..expandAcroleukopathy, Symmetric (C566322)
..expandAnonychia with Flexural Pigmentation (C566278)
..expandArgyria (D001129)
..expandBADS Syndrome (C562663)
..expandBasaran Yilmaz syndrome (C537660)
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCafe-au-Lait Spots (D019080) Child4
..expandDyschromatosis symmetrica hereditaria 1 (C535729)
..expandDyschromatosis universalis hereditaria (C535730)
..expandDyschromatosis Universalis Hereditaria 1 (C567273)
..expandDyschromatosis Universalis Hereditaria 2 (C567194)
..expandElejalde Disease (C536203)
..expandFLOTCH syndrome (C537065)
..expandGraying of Hair, Precocious (C564209)
..expandGriscelli syndrome type 1 (C537301)
..expandGriscelli syndrome type 3 (C537303)
..expandGrouped Pigmentation of the Macula (C565530)
..expandHeterochromia iridis (C538115)
..expandHyperpigmentation (D017495) Child30
..expandHypopigmentation (D017496) Child49
..expandIncontinentia Pigmenti (D007184) Child2
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandMacules hereditary congenital hypopigmented and hyperpigmented (C537836)
..expandOculocerebral hypopigmentation syndrome type Preus (C537866)
..expandPeeling skin syndrome, acral type (C536316)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPigmented purpuric eruption (C537186)
..expandPropping Zerres syndrome (C538052)
..expandRed skin pigment anomaly of New Guinea (C535515)
..expandRussell-Silver Syndrome, X-Linked (C562446)
..expandSkin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..expandSkin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..expandSkin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..expandSkin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..expandSkin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..expandSkin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..expandSkin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..expandSkin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..expandSpastic paraplegia 23 (C536859)
..expandTang Hsi Ryu syndrome (C536897)
..expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandThumb deformity, alopecia, pigmentation anomaly (C536904)
..expandUrticaria Pigmentosa (D014582)
..expandWAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..expandWhite forelock with malformations (C536700)
..expandWhyte Murphy syndrome (C536054)
..expandXeroderma Pigmentosum (D014983) Child16
..expandYellow Nail Syndrome (D056684) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11030
Name:Thumb deformity, alopecia, pigmentation anomaly
Definition:
Alternative IDs:
ParentIDs:MESH:D000505|MESH:D000848|MESH:D010859
TreeNumbers:C07.650.800.100/C536904 |C07.793.700.100/C536904 |C16.131.850.800.100/C536904 |C17.800.329.937.122/C536904 |C17.800.621/C536904 |C23.300.035/C536904
Synonyms:Congenital deformity of the thumb and congenital alopecia |Hypotrichosis associated with congenital hypoplasia of the thumb
Slim Mappings:Congenital abnormality|Mouth disease|Pathology (anatomical condition)|Skin disease
Reference: MedGen: C536904
MeSH: C536904
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants