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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Hypospadias (D007021)
Parent Node:
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Intellectual Disability (D008607)
Parent Node:
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Joint Instability (D007593)
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Microcephaly (D008831)
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Nails, Malformed (D009264)
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Hypospadias-Mental Retardation Syndrome (C563067)

       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:5628
Name:Hypospadias-Mental Retardation Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D007021|MESH:D007593|MESH:D008607|MESH:D008831|MESH:D009264
TreeNumbers:C05.550.521/C563067 |C05.660.207.620/C563067 |C10.500.507.400.500/C563067 |C10.597.606.643/C563067 |C12.294.494.400/C563067 |C12.706.516/C563067 |C13.351.875.466/C563067 |C16.131.621.207.620/C563067 |C16.131.666.507.400.500/C563067 |C16.131.939.516/C563067 |C23.30
Synonyms:
Slim Mappings:Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C563067
MeSH: C563067
OMIM: 241760;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001999Abnormal facial shape
3 HP:0001597Abnormality of the nail
4 HP:0030817Beaked nails
5 HP:0000047Hypospadias
6 HP:0001249Intellectual disability
7 HP:0001388Joint laxity
8 HP:0000252Microcephaly
9 HP:0000243Trigonocephaly
Disease Causing ClinVar Variants