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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Clubfoot (D003025)
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Congenital Abnormalities (D000013)
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Crane-Heise syndrome (C536452)

       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:2802
Name:Crane-Heise syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000013|MESH:D003025
TreeNumbers:C05.330.495.150/C536452 |C05.660.585.512.380.500/C536452 |C16.131.621.585.380.500/C536452 |C16.131/C536452
Synonyms:Cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C536452
MeSH: C536452
OMIM: 218090;

Genes:
Phenotypes
Disease Causing ClinVar Variants