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:
expandDigestive System Abnormalities (D004065)
..Starting node
..expandAnus, Imperforate (D001006)

       Child Nodes:
........expandAnal Atresia, Hypospadias, and Penoscrotal Inversion (C566526)
........expandAnorectal Anomalies (C567938)
........expandAnorectal atresia (C537771)
........expandAxial mesodermal dysplasia spectrum (C537790)
........expandCervical ribs sprengel anomaly anal atresia urethral obstruction (C538072)
........expandDeafness nephritis ano rectal malformation (C535996)
........expandGrowth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
........expandJohanson Blizzard syndrome (C535880)
........expandKarandikar Maria Kamble syndrome (C537009)
........expandOculootofacial Dysplasia (C563682)
........expandOculootoradial syndrome (C535544)
........expandOmphalocele exstrophy imperforate anus (C537748)
........expandOpitz-Kaveggia syndrome (C537923)
........expandSpondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
........expandStratton-Parker Syndrome (C566105)
........expandThymic-Renal-Anal-Lung dysplasia (C536907)
........expandTownes-Brocks syndrome (C536974)
........expandTownes-Brocks-Branchiootorenal-Like Syndrome (C566272)
........expandVATER association (C536534)
........expandVater Association With Hydrocephalus (C564752)
........expandVerloes Gillerot Fryns syndrome (C536539)



 Sister Nodes: 
..expandAbsent duct of Santorini (C535567)
..expandAcrorenal mandibular syndrome (C535665)
..expandAcrorenal syndrome recessive (C535666)
..expandAnus, Imperforate (D001006) Child21
..expandBarrett Esophagus (D001471) Child1
..expandBiliary Atresia (D001656) Child2
..expandCholedochal Cyst (D015529) Child2
..expandCraniosynostosis, anal anomalies, and porokeratosis (C536789)
..expandCurrarino triad (C536221)
..expandDiaphragmatic Eventration (D003965) Child1
..expandEsophageal Atresia (D004933) Child2
..expandHirschsprung Disease (D006627) Child22
..expandIntestinal Atresia (D007409) Child11
..expandMeckel Diverticulum (D008467)
..expandVACTERL Association With Hydrocephalus (C564751)
..expandVolvulus Of Midgut (C562456)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:771
Name:Anus, Imperforate
Definition:A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Alternative IDs:
ParentIDs:MESH:D004065
TreeNumbers:C06.198.050 |C16.131.314.094
Synonyms:Anal Atresia |Anal Atresias |Atresia, Anal |Atresias, Anal |Imperforate Anus
Slim Mappings:Congenital abnormality|Digestive system disease
Reference: MedGen: D001006
MeSH: D001006
OMIM: 301800;

Genes:
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0002023Anal atresia
3 HP:0004397Ectopic anus
4 HP:0000365Hearing impairment
5 HP:0000047Hypospadias
Disease Causing ClinVar Variants