TIA
MCID: HRS001
MIFTS: 84

Hirschsprung's Disease (TIA) malady

Gastrointestinal diseases, Fetal diseases categories

Summaries for Hirschsprung's Disease

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Hirschsprung disease is a disease of the large intestine or colon. people with this disease do not have the nerve cells in the intestine required to expel stools from the body normally. symptoms of hirschsprung disease usually show up in very young children, but sometimes not until adolescence or adulthood. the symptoms may vary with age, but often involve constipation and/or obstruction of the bowel. last updated: 10/17/2013

MalaCards: Hirschsprung's Disease, also known as hirschsprung disease, is related to central hypoventilation syndrome, congenital, with or without hirschsprung disease and thyroid medullary carcinoma, and has symptoms including functional anomalies of the digestive system, intestinal perforation and acute diarrhea. An important gene associated with Hirschsprung's Disease is RET (ret proto-oncogene), and among its related pathways are Development EGFR signaling pathway and Axon guidance. The compounds tyrosine and dopamine have been mentioned in the context of this disorder. Affiliated tissues include colon, thyroid and bone, and related mouse phenotypes are nervous system and behavior/neurological.

Disease Ontology:8 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

Genetics Home Reference:21 Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood.

Description from OMIM:46 202550, 142623, 613712, 613711, 600155 600156, 606874, 606875, 608462, 611644 more

GeneReviews summary for hirschsprung-ov

Aliases & Classifications for Hirschsprung's Disease

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 19GeneReviews, 20GeneTests, 22GTR, 44Novoseek, 48Orphanet, 60UMLS, 46OMIM, 10DISEASES, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Gastrointestinal diseases


Characteristics (Orphanet epidemiological data):

48
hirschsprung disease:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

hirschsprung's disease 8 42 21
hirschsprung disease 8 19 20 22 21 44 48 60
aganglionic megacolon 8 19 42 21 48
hscr 19 42 21 48
hirschsprung disease 1 42 46 60
congenital intestinal aganglionosis 21 48
aganglionosis, total intestinal 8 42
hirschsprung disease type 1 42 22
congenital megacolon 8 21
near-total intestinal aganglionosis 42
rare form of hirschsprung's disease 42
total intestinal aganglionosis 44
aganglionosis, total colonic 42
pelvirectal achalasia 8
hirschsprungs disease 10
aganglionosis 8
macrocolon 8
hscr 1 42
ntia 42
tia 42


External Ids:

Disease Ontology8 DOID:10487
MeSH34 D006627
NCIt39 C34700
MESH via Orphanet35 D006627
ICD10 via Orphanet26 Q43.1
SNOMED-CT via Orphanet57 204739008, 360436002
UMLS via Orphanet61 C0019569
ICD1025 Q43.1

Related Diseases for Hirschsprung's Disease

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17GeneCards, 18GeneDecks
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Diseases in the Hirschsprung's Disease family:

Hirschsprung Disease Type 3 Hirschsprung Disease Type 2
Ret-Related Hirschsprung Disease Nrtn-Related Hirschsprung Disease
Gdnf-Related Hirschsprung Disease Ednrb-Related Hirschsprung Disease
Edn3-Related Hirschsprung Disease Ece1-Related Hirschsprung Disease
Hirschsprung Disease 6 Hirschsprung Disease 9
Hirschsprung Disease 5 Hirschsprung Disease 8
Hirschsprung Disease 7 Hirschsprung Disease 4

Diseases related to Hirschsprung's Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 176)
idRelated DiseaseScoreTop Affiliating Genes
1central hypoventilation syndrome, congenital, with or without hirschsprung disease30.4RET, PHOX2B
2thyroid medullary carcinoma30.3GDNF, RET, GFRA1
3microcephaly30.3ZEB2
4waardenburg syndrome type 430.2RET, EDN3, EDNRB, SOX10
5familial medullary thyroid carcinoma30.1GDNF
6intestinal obstruction29.9RET, GDNF, EDN3, EDNRB
7waardenburg's syndrome29.9RET, EDN3, EDNRB, SOX10
8intestinal pseudo-obstruction29.9ACHE
9neuroblastoma29.9PHOX2B
10renal agenesis29.9GFRA1, RET, GDNF
11pyloric stenosis29.9BLVRB
12neuropathy29.9SOX10
13transient cerebral ischemia10.6
14mowat-wilson syndrome10.5
15stroke, ischemic10.5
16mini stroke10.5
17chromosomal disease10.4
18rectal disease10.4
19congenital central hypoventilation syndrome10.4
20hirschsprung disease type 310.4
21cerebritis10.3
22down syndrome10.3
23intestinal disease10.3
24hirschsprung disease type d brachydactyly10.3
25hirschsprung disease ganglioneuroblastoma10.3
26hirschsprung disease type 210.3
27megacolon10.3
28colonic disease10.3
29thyroiditis10.3
30santos mateus leal syndrome10.3
31hirschsprung disease polydactyly heart disease10.3
32moyamoya disease10.2
33carotid stenosis10.2
34smith-lemli-opitz syndrome10.2
35wilson disease10.2
36peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease10.2
37mowat-wilson syndrome due to monosomy 2q2210.2
38patent foramen ovale10.2
39fabry disease10.2
40neuronitis10.2
41hydrocephalus10.2
42nervous system disease10.2
43hirschsprung nail hypoplasia dysmorphism10.2
44hirschsprung disease 410.2
45transient global amnesia10.1
46cerebral amyloid angiopathy10.1
47fecal incontinence10.1
48bardet-biedl syndrome10.1
49coloboma10.1
50lissencephaly10.1

Graphical network of the top 20 diseases related to Hirschsprung's Disease:



Diseases related to hirschsprung's disease

Clinical Features for Hirschsprung's Disease

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

202550,142623,613712,613711,600155,600156,606874,606875,608462,611644

Clinical synopsis from OMIM:

142623

Symptoms:

48 (show all 17)
  • functional anomalies of the digestive system
  • intestinal perforation
  • acute diarrhea
  • thyroid neoplasm/tumor/carcinoma/cancer
  • clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • constipation
  • sensorineural deafness/hearing loss
  • short stature/dwarfism/nanism
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • acute abdominal pain/colic
  • intestinal obstruction/ileus
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • polyposis of the bowel/colon/intestine
  • sepsis severe/septicemia
  • nausea/vomiting/regurgitation/merycism/hyperemesis

Drugs & Therapeutics for Hirschsprung's Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hirschsprung's Disease

Drug clinical trials:

Search ClinicalTrials for Hirschsprung's Disease

Search NIH Clinical Center for Hirschsprung's Disease

Search CenterWatch for Hirschsprung's Disease

Genetic Tests for Hirschsprung's Disease

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20GeneTests, 22GTR
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Genetic tests related to Hirschsprung's Disease:

id Genetic test Affiliating Genes
1 Hirschsprung Disease20 RET
2 Hirschsprung Disease 122
3 Hirschsprung's Disease22

Anatomical Context for Hirschsprung's Disease

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32MalaCards
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MalaCards organs/tissues related to Hirschsprung's Disease:

32
Colon, Thyroid, Bone, Testes, Smooth muscle, Pituitary, Heart, Skin, Brain, Eye

Animal Models for Hirschsprung's Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hirschsprung's Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.9ACHE, CALB2, L1CAM, SOX10, ZEB2, PSPN
2MP:000538610.8CALB2, L1CAM, SOX10, PHOX2B, EDNRB, EDN3
3MP:000538110.7SOX10, EDNRB, EDN3, NRTN, ECE1, GDNF
4MP:001076810.6SOX10, ZEB2, PHOX2B, EDNRB, EDN3, ECE1
5MP:000118610.6L1CAM, SOX10, EDNRB, EDN3, ECE1
6MP:000538010.6SOX10, ZEB2, PHOX2B, EDNRB, EDN3, ECE1
7MP:000536910.5EDNRB, NRTN, ECE1, GDNF, RET, GFRA1
8MP:000539110.3L1CAM, ZEB2, PHOX2B, EDNRB, NRTN, ECE1

Publications for Hirschsprung's Disease

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50PubMed
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Articles related to Hirschsprung's Disease:

(show top 50)    (show all 645)
idTitleAuthorsYear
1
Transanal endorectal pull-through for classic segment Hirschsprung's disease: with or without laparoscopic mobilization of the rectosigmoid? (24074667)
2013
2
Calretinin and microtubule-associated protein-2 (MAP-2) immunohistochemistry in the diagnosis of Hirschsprung's disease. (24094966)
2013
3
Smooth muscle proteins from Hirschsprung's disease facilitates stem cell differentiation. (22048648)
2012
4
Calretinin immunohistochemistry in Hirschsprung's disease: An adjunct to formalin-based diagnosis. (22798111)
2012
5
Duhamel's procedure for adult Hirschsprung's disease. (22630102)
2012
6
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease. (23001136)
2012
7
Single-stage Modified Duhamel procedure for Hirschsprung's disease : our experience. (22382098)
2012
8
Hirschsprung's disease and medullary thyroid carcinoma. (22526546)
2012
9
Late malignancy within rectal duplication and Hirschsprung's disease. (21689301)
2011
10
Modern treatment of Hirschsprung's disease. (22182845)
2011
11
A systematic review and meta-analysis of Hirschsprung's disease presenting after childhood. (20725836)
2010
12
Low incidence of enterocolitis and colonic mucosal inflammation in Norwegian patients with Hirschsprung's disease. (19082831)
2009
13
Comparing cost and complications of primary and staged surgical repair of neonatally diagnosed Hirschsprung's disease. (19040939)
2008
14
Disturbances of colonic motility in mouse models of Hirschsprung's disease. (18276829)
2008
15
RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population. (18612588)
2008
16
A new rapid acetylcholinesterase staining kit for diagnosing Hirschsprung's disease. (17205295)
2007
17
The effect of dilated ganglionic segment on anorectal and urinary functions during 1-stage transanal endorectal pull through for Hirschsprung's disease. (17618894)
2007
18
Hirschsprung's disease in an infant with colonic atresia and normal fixation of the distal colon. (17270533)
2007
19
Historic milestones of Hirschsprung's disease (commemorating the 90th anniversary of Professor Harald Hirschsprung's death). (17208575)
2007
20
A comparative study of laparoscopy-assisted pull-through and open pull-through for Hirschsprung's disease with special reference to postoperative fecal continence. (18082710)
2007
21
Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population. (17440194)
2007
22
Coding-sequence mutation and polymorphism analysis of EDNRB gene in patients with Hirschsprung's disease from Zhejiang region]. (16944573)
2006
23
Long-term continence in patients with Hirschsprung's disease and Down syndrome. (16677164)
2006
24
An example of psychological adjustment in chronic illness: Hirschsprung's disease. (16485101)
2006
25
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. (16443855)
2006
26
Hirschsprung's disease in adults: report of a case and review of the literature. (15940019)
2005
27
Usefulness of endoscopic marking for determining the location of transanal endorectal pull-through in the treatment of Hirschsprung's disease. (16133515)
2005
28
Comment on Doctor Swenson's paper on Hirschsprung's disease. (15940828)
2005
29
Histological studies on Hirschsprung's disease and its allied disorders in childhood. (15239242)
2004
30
Pathogenesis of Hirschsprung's disease and its variants: recent progress. (14765367)
2004
31
Posterior myotomy/myectomy for persistent stooling problems in Hirschsprung's disease. (15185226)
2004
32
Persistent obstructive symptoms after surgery for Hirschsprung's disease: development of a diagnostic and therapeutic algorithm. (15486887)
2004
33
MUC-2 mucin production in Hirschsprung's disease: possible association with enterocolitis development. (12632359)
2003
34
Laparoscopic Swenson procedure--an optimal approach for both primary and secondary pull-through for Hirschsprung's disease. (14577065)
2003
35
Secretory diarrhea owing to a tape bezoar in a child with Hirschsprung's disease. (14614723)
2003
36
Endorectal pull-through for Hirschsprung's disease: 17-year review of results in Ukraine. (12598972)
2002
37
Lateral sphincteromyotomy in patients with outlet obstruction after surgery for Hirschsprung's disease and short-segment disease. (12415357)
2002
38
Neonatal Duhamel's pull-through for Hirschsprung's disease. (12455810)
2002
39
Hirschsprung's disease: diagnosis and management in children. (12048463)
2001
40
Imperforate anus, Hirschsprung's disease, and trisomy 21: a rare combination. (10626879)
1999
41
Mutational analysis of the endothelin-B receptor gene in Japanese Hirschsprung's disease. (9721987)
1998
42
Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene. (9498388)
1998
43
Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease. (9035203)
1997
44
Management of anorectal malformations and Hirschsprung's disease]. (9526745)
1997
45
Immunocytochemical characterization of supporting cells in the enteric nervous system in Hirschsprung's disease. (1972188)
1990
46
Mineral oil embolization and lipid pneumonia in an infant treated for Hirschsprung's disease. (3444791)
1987
47
Hirschsprung's disease and idiopathic megacolon in adults and adolescents. (3699562)
1986
48
Prune belly syndrome associated with Hirschsprung's disease. (35974)
1979
49
Hirschsprung's disease, aganglionic or hypoganglionic megacolon. Animal model: aganglionic megacolon in piebald and spotted mutant mouse strains. (1124798)
1975
50
A simple recording system for the diagnosis of Hirschsprung's disease and idiopathic megacolon. (4701915)
1973

Genetic Variations for Hirschsprung's Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hirschsprung's Disease:

62 (show all 67)
id Symbol AA change Variation ID SNP ID
1RETp.Ser32LeuVAR_006295rs76764689
2RETp.Pro64LeuVAR_006296rs77596424
3RETp.Cys142SerVAR_006298
4RETp.Arg231HisVAR_006299rs79661516
5RETp.Glu251LysVAR_006300
6RETp.Arg287GlnVAR_006301
7RETp.Arg330GlnVAR_006302rs80236571
8RETp.Phe393LeuVAR_006303rs78098482
9RETp.Pro399LeuVAR_006304
10RETp.Arg475GlnVAR_006305rs138624658
11RETp.Cys609TyrVAR_006306rs77939446
12RETp.Cys609TrpVAR_006307
13RETp.Cys618ArgVAR_006311rs76262710
14RETp.Cys618SerVAR_006313rs79781594
15RETp.Cys620ArgVAR_006316
16RETp.Ser690ProVAR_006331
17RETp.Ser767ArgVAR_006334
18RETp.Arg873GlnVAR_006338
19RETp.Phe893LeuVAR_006339
20RETp.Arg897GlnVAR_006340rs76087194
21RETp.Lys907GluVAR_006341
22RETp.Glu921LysVAR_006343
23RETp.Arg972GlyVAR_006346rs76534745
24RETp.Pro973LeuVAR_006347
25RETp.Met980ThrVAR_006348
26RETp.Pro20LeuVAR_009459
27RETp.Arg77CysVAR_009460
28RETp.Phe174SerVAR_009462
29RETp.Arg180ProVAR_009463
30RETp.Cys197TyrVAR_009464
31RETp.Arg313GlnVAR_009465rs77702891
32RETp.Arg360TrpVAR_009467
33RETp.Asn394LysVAR_009468
34RETp.Cys620TrpVAR_009475
35RETp.Gln626LysVAR_009476
36RETp.Glu762GlnVAR_009481
37RETp.Tyr791PheVAR_009483rs77724903
38RETp.Arg813GlnVAR_009484
39RETp.Leu1061ProVAR_009490
40RETp.Met1064ThrVAR_009491
41RETp.Leu40ProVAR_009492
42RETp.Ser765ProVAR_009493rs75075748
43RETp.Arg114HisVAR_018154
44RETp.Val145GlyVAR_035711
45RETp.Arg114CysVAR_067101
46RETp.Pro155LeuVAR_067102
47RETp.Arg175ProVAR_067103
48RETp.Thr278AlaVAR_067104
49RETp.Thr278ProVAR_067105
50RETp.Asp300AsnVAR_067106
51RETp.Ser316IleVAR_067107
52RETp.Ser339LeuVAR_067108
53RETp.Asp353TyrVAR_067109
54RETp.Arg360GlnVAR_067110
55RETp.Val397MetVAR_067111rs183729115
56RETp.Val412MetVAR_067112
57RETp.Gly423ArgVAR_067113
58RETp.Glu480LysVAR_067114
59RETp.Glu595GlnVAR_067116
60RETp.Pro679LeuVAR_067117
61RETp.Arg694GlnVAR_067118rs141185224
62RETp.Asn783SerVAR_067119
63RETp.Gly830ArgVAR_067120rs200127630
64RETp.Lys907ThrVAR_067121
65RETp.Phe961LeuVAR_067122
66RETp.Leu1052ValVAR_067123
67RETp.Tyr1062CysVAR_067124

Expression for genes affiliated with Hirschsprung's Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hirschsprung's Disease

Search GEO for disease gene expression data for Hirschsprung's Disease.

Pathways for genes affiliated with Hirschsprung's Disease

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Sources:
12EMD Millipore, 51QIAGEN, 53Reactome, 37NCBI BioSystems Database, 55SinoBiological
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Pathways related to Hirschsprung's Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6GFRA1, RET, GDNF, NRTN, PSPN
2
Hide members
10.5L1CAM, PSPN, NRTN, GDNF
3
Hide members
10.5PSPN, NRTN, GDNF, GFRA1
4
G-protein signaling H-RAS regulation pathway
Hide members
10.5GDNF, RET, GFRA1
510.5GFRA1, RET, GDNF
610.5GFRA1, GDNF, NRTN

Compounds for genes affiliated with Hirschsprung's Disease

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Hirschsprung's Disease according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1tyrosine4411.0CALB2, L1CAM, PSPN, PHOX2B, EDNRB, EDN3
2dopamine44 28 11 2414.0ACHE, CALB2, PSPN, PHOX2B, EDN3, NRTN
3glutamate4411.0CALB2, L1CAM, PSPN, EDNRB, EDN3, NRTN
4acetylcholine44 49 28 11 2414.9CALB2, EDNRB, EDN3, NRTN, BLVRB, GDNF
5choline44 11 2412.9CALB2, NRTN, BLVRB, GDNF, RET, ACHE
6phosphoramidon44 1111.9EDNRB, EDN3, ECE1
7heparan sulfate44 2411.9NRTN, GDNF, RET, GFRA1
8pd 1428934410.9EDNRB, EDN3
9bq6104410.9EDNRB, EDN3
10bq 302044 2811.9EDNRB, EDN3
11tezosentan4410.8EDNRB, EDN3
12irl 162044 2811.8EDNRB, EDN3
13nitric oxide44 11 2412.8GDNF, BLVRB, ECE1, EDN3, EDNRB, CALB2
14fr13931744 2811.8EDNRB, EDN3
15sarafotoxin4410.8EDNRB, EDN3
166-hydroxydopamine4410.8GDNF, NRTN, PSPN
17bq78844 2811.8EDNRB, EDN3
18indomethacin44 59 28 1113.8BLVRB, ECE1, EDN3, EDNRB
19bq12344 2811.8EDNRB, EDN3
20melatonin44 59 28 11 2414.7CALB2, EDNRB, GDNF
21bosentan44 1111.7EDN3, EDNRB
22norepinephrine44 11 2412.7PHOX2B, EDNRB, EDN3, GDNF
23nmda44 2811.7ACHE
24catecholamine4410.6RET, GDNF, BLVRB
25pd 98,0594410.6NRTN, ECE1, GDNF, RET
26vegf4410.6RET, GDNF, ECE1, EDN3, EDNRB
27rasagiline44 1111.5ACHE, GDNF
28potassium44 11 2412.4EDNRB, EDN3, BLVRB, GDNF
29thiorphan44 28 1112.2ECE1, EDN3

GO Terms for genes affiliated with Hirschsprung's Disease

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16Gene Ontology
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Biological processes related to Hirschsprung's Disease according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1neural crest cell migrationGO:00175510.9RET, GDNF, NRTN, EDN3, EDNRB, ZEB2
2nervous system developmentGO:00739910.8L1CAM, ZEB2, PSPN, EDNRB, NRTN, GDNF
3enteric nervous system developmentGO:04848410.8SOX10, PHOX2B, EDNRB, GDNF, RET
4posterior midgut developmentGO:00749710.7RET, EDNRB
5melanocyte differentiationGO:03031810.7SOX10, EDNRB, EDN3
6axon guidanceGO:00741110.7L1CAM, PSPN, NRTN, GDNF, GFRA1
7cell surface receptor signaling pathwayGO:00716610.7GFRA1, EDN3, EDNRB, L1CAM
8vein smooth muscle contractionGO:01482610.6EDNRB, EDN3
9regulation of systemic arterial blood pressure by endothelinGO:00310010.6ECE1, EDN3
10vasoconstrictionGO:04231010.5EDN3, EDNRB
11sympathetic nervous system developmentGO:04848510.5GDNF, PHOX2B
12response to painGO:04826510.4EDNRB, RET
13regulation of vasoconstrictionGO:01922910.2ECE1, EDN3

Molecular functions related to Hirschsprung's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00510210.6GFRA1, GDNF, NRTN, EDN3, PSPN

Products for genes affiliated with Hirschsprung's Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hirschsprung's Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet