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:
expandBrain Diseases (D001927)
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandCysts (D003560)
Parent Node:
expandEctodermal Dysplasia (D004476)
..Starting node
..expandSener syndrome (C537579)

       Child Nodes:



 Sister Nodes: 
..expandAdams Oliver syndrome (C538225)
..expandAlves Castelo dos Santos syndrome (C536593)
..expandAnal sphincter dysplasia (C538254)
..expandAplasia cutis congenita intestinal lymphangiectasia (C537788)
..expandAplasia cutis congenita of limbs recessive (C536840)
..expandAplasia Cutis Congenita with Epibulbar Dermoids (C563969)
..expandAplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..expandAplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..expandAREDYLD Syndrome (C537427)
..expandArthrogryposis and ectodermal dysplasia (C537441)
..expandBasan syndrome (C537659)
..expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..expandBrunoni syndrome (C537408)
..expandCardiofaciocutaneous syndrome (C535579)
..expandCerebellar ataxia ectodermal dysplasia (C535350)
..expandCleft Lip with or without Cleft Palate, Nonsyndromic, 8 (C565070)
..expandCongenital ectodermal dysplasia with hearing loss (C535757)
..expandContractures ectodermal dysplasia cleft lip palate (C535465)
..expandCranioectodermal Dysplasia (C562966) Child1
..expandDeafness with Anhidrotic Ectodermal Dysplasia (C565119)
..expandDermatoosteolysis Kirghizian type (C535373)
..expandEctodermal Dysplasia 1, Anhidrotic (D053358) Child1
..expandEctodermal Dysplasia 3, Anhidrotic (D053359)
..expandECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..expandEctodermal dysplasia adrenal cyst (C538015)
..expandEctodermal dysplasia alopecia preaxial polydactyly (C538016)
..expandEctodermal Dysplasia and Neurosensory Deafness (C565606)
..expandEctodermal dysplasia mental retardation syndactyly (C538018)
..expandEctodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..expandEctodermal Dysplasia with Natal Teeth, Turnpenny Type (C563347)
..expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..expandEctodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..expandEctodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..expandEctodermal Dysplasia, Hidrotic, Autosomal Recessive (C566553)
..expandEctodermal dysplasia, hidrotic, Christianson-Fourie type (C536180)
..expandEctodermal Dysplasia, Hypohidrotic, Autosomal Recessive (D053360)
..expandEctodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
..expandEctodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
..expandEctodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..expandEctodermal Dysplasia, Pure Hair-Nail Type (C566592)
..expandEctodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
..expandEctodermal Dysplasia, Trichoodontoonychial Type (C565068)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..expandEctodermal dysplasia/ skin fragility syndrome (C536183)
..expandEctrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate (C565065)
..expandEctrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 (C565062)
..expandEctrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 (C565799)
..expandEctrodactyly-cleft lip/palate syndrome (C536189)
..expandEllis-Van Creveld Syndrome (D004613) Child6
..expandEpidermolysis bullosa with pyloric atresia (C535377)
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFocal Dermal Hypoplasia (D005489) Child1
..expandFocal facial dermal dysplasia (C537068)
..expandFreire-Maia odontotrichomelic syndrome (C535637)
..expandHalal Setton Wang syndrome (C535621)
..expandHay Wells syndrome recessive type (C535846)
..expandHay-Wells syndrome (C535847)
..expandHyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic (C564542)
..expandJohanson Blizzard syndrome (C535880)
..expandJones Hersh Yusk syndrome (C535885)
..expandLadda Zonana Ramer syndrome (C538135)
..expandLelis Syndrome (C564261)
..expandMadokoro Ohdo Sonoda syndrome (C537838)
..expandNaegeli syndrome (C538331)
..expandNEMO mutation with immunodeficiency (C538399)
..expandNeurocutaneous Syndromes (D020752) Child42
..expandOdontomicronychial dysplasia (C537741)
..expandOdontoonychodermal dysplasia (C537742)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOrofacial Cleft 7 (C563464)
..expandPachyonychia Congenita (D053549) Child5
..expandPinheiro Freire-Maia Miranda syndrome (C537402)
..expandPropping Zerres syndrome (C538052)
..expandRapp-Hodgkin syndrome (C535289)
..expandRobinson Miller Bensimon syndrome (C535864)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSener syndrome (C537579)
..expandSeres-Santamaria Arimany Muniz syndrome (C537585)
..expandTaurodontia absent teeth sparse hair (C536945)
..expandTetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
..expandTrichodental syndrome (C536551)
..expandTrichoodontoonychial Dysplasia (C564760)
..expandTrichoscyphodysplasia (C536557)
..expandTRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
..expandTrueb Burg Bottani syndrome (C536565)
..expandYunis Varon syndrome (C536719)
..expandZlotogora-Ogur syndrome (C536726)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10117
Name:Sener syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D001927|MESH:D003560|MESH:D004476|MESH:D019465
TreeNumbers:C04.182/C537579 |C05.660.207/C537579 |C10.228.140/C537579 |C16.131.077.350/C537579 |C16.131.621.207/C537579 |C16.131.831.350/C537579 |C16.320.850.250/C537579 |C17.800.804.350/C537579 |C17.800.827.250/C537579 |C23.300.306/C537579
Synonyms:Frontonasal dysplasia and dilated virchow-robin spaces
Slim Mappings:Cancer|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Skin disease
Reference: MedGen: C537579
MeSH: C537579
OMIM: 606156;

Genes:
Phenotypes
1 HP:0001545Anteriorly placed anus
2 HP:0002028Chronic diarrhea
3 HP:0002208Coarse hair
4 HP:0000696Delayed eruption of permanent teeth
5 HP:0012520Dilation of Virchow-Robin spaces
6 HP:0000964Eczema
7 HP:0000621Entropion
8 HP:0001263Global developmental delay
9 HP:0000218High palate
10 HP:0000484Hyperopic astigmatism
11 HP:0000316Hypertelorism
12 HP:0000668Hypodontia
13 HP:0002079Hypoplasia of the corpus callosum
14 HP:0000023Inguinal hernia
15 HP:0000054Micropenis
16 HP:0008551Microtia
17 HP:0000695Natal tooth
18 HP:0001643Patent ductus arteriosus
19 HP:0001561Polyhydramnios
20 HP:0000358Posteriorly rotated ears
21 HP:0000319Smooth philtrum
22 HP:0003745Sporadic
23 HP:0001537Umbilical hernia
24 HP:0000260Wide anterior fontanel
25 HP:0000154Wide mouth
Disease Causing ClinVar Variants