| Disease Aliases (30) | Aganglionic megacolon Aganglionosis Aganglionosis, colonic Aganglionosis, rectosigmoid Aganglionosis, rectosigmoid colon Aganglionosis, total colonic Colonic aganglionosis Congenital (aganglionic) megacolon Congenital intestinal aganglionosis Congenital megacolon Congenital aganglionic megacolon Disease, hirschsprung Disease, hirschsprung's Hd - hirschsprung's disease Hscr Hscr 1 Hirschsprung disease 1 Hirschsprung disease susceptibility Hirschsprung disease type 1 Hirschsprung's disease Hirschsprungs disease Megacolon, aganglionic Megacolon, congenital Rectosigmoid aganglionosis Rectosigmoid colon aganglionosis Total colonic aganglionosis Macrocolon Pelvirectal achalasia Total intestinal aganglionosis |
Associated Genes (14) NCBI-RefSeq: ABCD1 (ATP binding cassette subfamily D member 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: ERBB2 (Erb-b2 receptor tyrosine kinase 2) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: ATP7A (ATPase copper transporting alpha) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: RET (Ret proto-oncogene) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: GDNF (Glial cell derived neurotrophic factor) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SEMA3C (Semaphorin 3C) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SEMA3D (Semaphorin 3D) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SMO (Smoothened, frizzled class receptor) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SREBF1 (Sterol regulatory element binding transcription factor 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: ECE1 (Endothelin converting enzyme 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: EDN3 (Endothelin 3) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: EDNRB (Endothelin receptor type B) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: NRTN (Neurturin) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: ERBB3 (Erb-b2 receptor tyrosine kinase 3) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Hirschsprung disease | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |