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gptkbp:instanceOf
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gptkb:disease
genetic disorder
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gptkbp:affects
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colon
rectum
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gptkbp:alsoKnownAs
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gptkb:congenital_aganglionic_megacolon
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gptkbp:associatedWith
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gptkb:Down_syndrome
gptkb:Waardenburg_syndrome
RET gene mutation
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gptkbp:causedBy
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absence of ganglion cells
failure of neural crest cell migration
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gptkbp:commonIn
|
males
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gptkbp:complication
|
sepsis
intestinal perforation
enterocolitis
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gptkbp:diagnosedBy
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anorectal manometry
contrast enema
rectal biopsy
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gptkbp:firstDescribed
|
gptkb:Harald_Hirschsprung
1888
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|
https://www.w3.org/2000/01/rdf-schema#label
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Hirschsprung disease
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gptkbp:ICD-10_code
|
Q43.1
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gptkbp:inheritance
|
multifactorial
autosomal dominant (rarely)
autosomal recessive (rarely)
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gptkbp:MeSH_ID
|
D006629
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gptkbp:OMIM
|
142623
|
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gptkbp:prevalence
|
1 in 5000 live births
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gptkbp:symptom
|
vomiting
constipation
abdominal distension
failure to pass meconium
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gptkbp:treatment
|
surgical resection
pull-through procedure
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gptkbp:bfsParent
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gptkb:PHOX2B
gptkb:neural_crest_cells
gptkb:congenital_aganglionic_megacolon
gptkb:NRTN_gene
gptkb:EDRB
gptkb:SOX10
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gptkbp:bfsLayer
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7
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