Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Intellectual Disability (D008607)
Parent Node:
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Limb Deformities, Congenital (D017880)
Parent Node:
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Nails, Malformed (D009264)
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Ulnar Hypoplasia with Mental Retardation (C564757)

       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:11368
Name:Ulnar Hypoplasia with Mental Retardation
Definition:
Alternative IDs:
ParentIDs:MESH:D008607|MESH:D009264|MESH:D017880
TreeNumbers:C05.660.585/C564757 |C10.597.606.643/C564757 |C16.131.621.585/C564757 |C23.300.820/C564757 |C23.888.592.604.646/C564757 |F03.550.600/C564757
Synonyms:
Slim Mappings:Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms
Reference: MedGen: C564757
MeSH: C564757
OMIM: 276821;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001817Absent fingernail
3 HP:0001802Absent toenail
4 HP:0005648Bilateral ulnar hypoplasia
5 HP:0002187Intellectual disability, profound
6 HP:0010501Limitation of knee mobility
7 HP:0002996Limited elbow movement
8 HP:0001762Talipes equinovarus
Disease Causing ClinVar Variants