Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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Limb Deformities, Congenital (D017880)
Parent Node:
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Nails, Malformed (D009264)
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Brachymorphism-onychodysplasia-dysphalangism syndrome (C536242)

       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:1433
Name:Brachymorphism-onychodysplasia-dysphalangism syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D009264|MESH:D017880
TreeNumbers:C05.660.585/C536242 |C16.131.621.585/C536242 |C23.300.820/C536242
Synonyms:
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition)
Reference: MedGen: C536242
MeSH: C536242
OMIM: 113477;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001999Abnormal facial shape
3 HP:0001798Anonychia
4 HP:0010959Congenital cystic adenomatoid malformation of the lung
5 HP:0000252Microcephaly
6 HP:0002164Nail dysplasia
7 HP:0000307Pointed chin
8 HP:0004227Short distal phalanx of the 5th finger
9 HP:0004220Short middle phalanx of the 5th finger
10 HP:0004322Short stature
11 HP:0000154Wide mouth
12 HP:0000445Wide nose
Disease Causing ClinVar Variants