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:
expandDental Enamel Hypoplasia (D003744)
Parent Node:
expandHypohidrosis (D007007)
Parent Node:
expandNails, Malformed (D009264)
..Starting node
..expandAmeloonychohypohidrotic syndrome (C538245)

       Child Nodes:



 Sister Nodes: 
..expandAlopecia universalis onychodystrophy vitiligo (C537056)
..expandAmeloonychohypohidrotic syndrome (C538245)
..expandAnonychia congenita (C536377)
..expandAnonychia onychodystrophy (C536378)
..expandAnonychia with Flexural Pigmentation (C566278)
..expandAnonychia, Total, with Microcephaly (C564606)
..expandAnonychia-Ectrodactyly (C566277)
..expandAnonychia-onychodystrophy with brachydactyly type B and ectrodactyly (C536379)
..expandBasan syndrome (C537659)
..expandBrachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..expandCartwright Nelson Fryns syndrome (C535917)
..expandCurly hair-acral keratoderma-caries syndrome (C536220)
..expandCurly hair-ankyloblepharon-nail dysplasia syndrome (C538074)
..expandDeafness enamel hypoplasia nail defects (C535994)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDermoodontodysplasia (C565103)
..expandDigitorenocerebral Syndrome (C563052)
..expandDouble Nail for Fifth Toe (C565090)
..expandGorlin Bushkell Jensen syndrome (C537289)
..expandHereditary koilonychia (C537260)
..expandHypospadias-Mental Retardation Syndrome (C563067)
..expandMAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..expandNAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 (OMIM:614149)
..expandOculotrichodysplasia (C564934)
..expandOnycholysis, Partial, with Scleronychia (C563503)
..expandOnychotrichodysplasia and neutropenia (C537752)
..expandOtoonychoperoneal Syndrome (C564912)
..expandPili torti onychodysplasia (C537399)
..expandPinheiro Freire-Maia Miranda syndrome (C537402)
..expandPropping Zerres syndrome (C538052)
..expandSantos Syndrome (C567819)
..expandSchinzel-Giedion syndrome (C536632)
..expandSteatocystoma multiplex with natal teeth (C537487)
..expandTeebi Kaurah syndrome (C536948)
..expandTemple-Baraitser Syndrome (C567516)
..expandToenail Dystrophy, Isolated (C564384)
..expandTonoki syndrome (C536967)
..expandTwenty-Nail Dystrophy (C562907)
..expandUlna hypoplasia with mental retardation (C536934)
..expandUlnar Hypoplasia with Mental Retardation (C564757)
..expandWitkop syndrome (C536736)
..expandYellow Nail Syndrome (D056684) Child1
..expandZori Stalker Williams syndrome (C536728)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:546
Name:Ameloonychohypohidrotic syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D003744|MESH:D007007|MESH:D009264
TreeNumbers:C07.650.800.255/C538245 |C07.793.700.255/C538245 |C16.131.850.800.255/C538245 |C17.800.946.370/C538245 |C23.300.820/C538245
Synonyms:Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis
Slim Mappings:Congenital abnormality|Mouth disease|Pathology (anatomical condition)|Skin disease
Reference: MedGen: C538245
MeSH: C538245
OMIM: 104570;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000682Abnormal dental enamel morphology
3 HP:0001595Abnormal hair morphology
4 HP:0000958Dry skin
5 HP:0000966Hypohidrosis
6 HP:0006291Marked delay in eruption of permanent teeth
7 HP:0001806Onycholysis
8 HP:0001051Seborrheic dermatitis
Disease Causing ClinVar Variants