| Disease Browser
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Parent Node:
 Congenital Abnormalities (D000013) | ..Starting node
.. Aural Atresia, Congenital (C564321)
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Child Nodes:
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Sister Nodes: | ..Abnormalities, Drug-Induced (D000014)  8
| ..Abnormalities, Multiple (D000015) 715
| ..Abnormalities, Radiation-Induced (D000016)
| ..Abnormalities, Severe Teratoid (D009008) 6
| ..Absent breasts and nipples (C535565)
| ..Accessory pancreas (C536003)
| ..AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
| ..Aicardi Syndrome (D058540) 1
| ..Arrhinia (C537438)
| ..Atlanto-Axial Fusion (C538196)
| ..Aural Atresia, Congenital (C564321)
| ..Bile and Pancreatic Ducts, Complete Absence of (C564298)
| ..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
| ..Cardiovascular Abnormalities (D018376) 331
| ..Caudal Duplication Anomaly (C564315)
| ..Chromosome Disorders (D025063) 160
| ..Congenital Microtia (D065817) 12
| ..Crane-Heise syndrome (C536452)
| ..Cryptotia, Familial (C565140)
| ..Deal Barratt Dillon syndrome (C538206)
| ..Digestive System Abnormalities (D004065) 78
| ..Eye Abnormalities (D005124) 208
| ..Gallbladder, Agenesis Of (C562564)
| ..Hereditary renal agenesis (C536482)
| ..Hernias, Diaphragmatic, Congenital (D065630) 7
| ..Hydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
| ..Laryngeal cleft (C537875)
| ..Laryngeal Web, Familial (C563636)
| ..Lymphatic Abnormalities (D044148) 10
| ..Mullerian aplasia (C537371) 1
| ..Musculoskeletal Abnormalities (D009139) 1165
| ..Nasal Bones, Absence of (C562753)
| ..Nervous System Malformations (D009421) 567
| ..Pancreas agenesis, dorsal (C538109)
| ..Patterson Stevenson syndrome (C536311) 1
| ..Renal and Mullerian Duct Hypoplasia (C564853)
| ..Respiratory System Abnormalities (D015619) 27
| ..Rhiny (C566708)
| ..Saito Kuba Tsuruta syndrome (C537226)
| ..Schlegelberger Grote syndrome (C536635)
| ..Situs Inversus (D012857) 19
| ..Skin Abnormalities (D012868) 358
| ..Sprengel deformity (C535802)
| ..Stomatognathic System Abnormalities (D018640) 329
| ..Stridor, Congenital (C563163)
| ..Thyroid Dysgenesis (D050033) 3
| ..Urogenital Abnormalities (D014564) 196
| ..Vagina, absence of (C536523)
| ..Vertebral fusion posterior lumbosacral blepharoptosis (C536344)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 1065 |
| Name: | Aural Atresia, Congenital |
| Definition: | |
| Alternative IDs: | OMIM:607842 |
| ParentIDs: | MESH:D000013 |
| TreeNumbers: | C16.131/C564321 |
| Synonyms: | AURAL ATRESIA, CONGENITAL, WITH HYPOSMIA |Caa |
| Slim Mappings: | Congenital abnormality |
| Reference: |
MedGen: C564321
MeSH: C564321
OMIM: 607842;
Genes: AF8T; TSHZ1; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_005786.5(TSHZ1):c.723G>A (p.Trp241Ter) | 10194 | TSHZ1 | Pathogenic | 730882070 | RCV000024185; | N | MedGen:C1842937,OMIM:607842 | 18 | 72998220 | 72998220 | NM_005786.5:c.723G>A | NP_005777.3:p.Trp241Ter | NC_000018.9:g.72998220G>A | OMIM Allelic Variant:614427.0002 | C1842937 607842 Aural atresia, congenital | | | | NM_005786.5(TSHZ1):c.946_947insA (p.Pro316Hisfs) | 10194 | TSHZ1 | Pathogenic | 730882069 | RCV000024184; | N | MedGen:C1842937,OMIM:607842 | 18 | 72998443 | 72998444 | NM_005786.5:c.946_947insA | NP_005777.3:p.Pro316Hisfs | NC_000018.9:g.72998443_72998444insA | OMIM Allelic Variant:614427.0001 | C1842937 607842 Aural atresia, congenital | | |
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