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:
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Congenital Abnormalities (D000013)
..Starting node
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Sprengel deformity (C535802)

       Child Nodes:



 Sister Nodes: 
..expandAbnormalities, Drug-Induced (D000014) Child8
..expandAbnormalities, Multiple (D000015) Child715
..expandAbnormalities, Radiation-Induced (D000016)
..expandAbnormalities, Severe Teratoid (D009008) Child6
..expandAbsent breasts and nipples (C535565)
..expandAccessory pancreas (C536003)
..expandAICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
..expandAicardi Syndrome (D058540) Child1
..expandArrhinia (C537438)
..expandAtlanto-Axial Fusion (C538196)
..expandAural Atresia, Congenital (C564321)
..expandBile and Pancreatic Ducts, Complete Absence of (C564298)
..expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..expandCardiovascular Abnormalities (D018376) Child331
..expandCaudal Duplication Anomaly (C564315)
..expandChromosome Disorders (D025063) Child160
..expandCongenital Microtia (D065817) Child12
..expandCrane-Heise syndrome (C536452)
..expandCryptotia, Familial (C565140)
..expandDeal Barratt Dillon syndrome (C538206)
..expandDigestive System Abnormalities (D004065) Child78
..expandEye Abnormalities (D005124) Child208
..expandGallbladder, Agenesis Of (C562564)
..expandHereditary renal agenesis (C536482)
..expandHernias, Diaphragmatic, Congenital (D065630) Child7
..expandHydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
..expandLaryngeal cleft (C537875)
..expandLaryngeal Web, Familial (C563636)
..expandLymphatic Abnormalities (D044148) Child10
..expandMullerian aplasia (C537371) Child1
..expandMusculoskeletal Abnormalities (D009139) Child1165
..expandNasal Bones, Absence of (C562753)
..expandNervous System Malformations (D009421) Child567
..expandPancreas agenesis, dorsal (C538109)
..expandPatterson Stevenson syndrome (C536311) Child1
..expandRenal and Mullerian Duct Hypoplasia (C564853)
..expandRespiratory System Abnormalities (D015619) Child27
..expandRhiny (C566708)
..expandSaito Kuba Tsuruta syndrome (C537226)
..expandSchlegelberger Grote syndrome (C536635)
..expandSitus Inversus (D012857) Child19
..expandSkin Abnormalities (D012868) Child358
..expandSprengel deformity (C535802)
..expandStomatognathic System Abnormalities (D018640) Child329
..expandStridor, Congenital (C563163)
..expandThyroid Dysgenesis (D050033) Child3
..expandUrogenital Abnormalities (D014564) Child196
..expandVagina, absence of (C536523)
..expandVertebral fusion posterior lumbosacral blepharoptosis (C536344)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10636
Name:Sprengel deformity
Definition:
Alternative IDs:
ParentIDs:MESH:D000013
TreeNumbers:C16.131/C535802
Synonyms:High scapula |Maladie de Sprengel familiale |Sprengel's shoulder
Slim Mappings:Congenital abnormality
Reference: MedGen: C535802
MeSH: C535802
OMIM: 184400;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0004632Cervical segmentation defect
3 HP:0002937Hemivertebrae
4 HP:0008984Neck muscle hypoplasia
5 HP:0006655Rib segmentation abnormalities
6 HP:0002650Scoliosis
7 HP:0008952Shoulder muscle hypoplasia
8 HP:0003298Spina bifida occulta
9 HP:0003745Sporadic
10 HP:0000912Sprengel anomaly
Disease Causing ClinVar Variants