CSBS
MCID: CNG413
MIFTS: 41

Congenital Short Bowel Syndrome (CSBS)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Congenital Short Bowel Syndrome

MalaCards integrated aliases for Congenital Short Bowel Syndrome:

Name: Congenital Short Bowel Syndrome 56 58 73 36
Congenital Short Bowel and Malrotation Syndrome 73 13
Csbs 56 73
Bowel, Short, Syndrome, Congenital 39
Intestinal Pseudo-Obstruction 71
Congenital Short Bowel 74
Csbm 73

Characteristics:

Orphanet epidemiological data:

58
congenital short bowel syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
high infant mortality due to malnutrition as well as complications of parenteral nutrition


HPO:

31
congenital short bowel syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Developmental anomalies during embryogenesis


Summaries for Congenital Short Bowel Syndrome

UniProtKB/Swiss-Prot : 73 Congenital short bowel syndrome: A disease characterized by a shortened small intestine, intestinal malrotation, and malabsorption. The mean length of the small intestine in CSBS patients is approximately 50 cm, compared with a normal length at birth of 190-280 cm. Patients with CSBS may develop severe malnutrition as a result of the hugely reduced absorptive surface of the small intestine. Infants require parenteral nutrition for survival. However, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life.

MalaCards based summary : Congenital Short Bowel Syndrome, also known as congenital short bowel and malrotation syndrome, is related to short bowel syndrome and intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked. An important gene associated with Congenital Short Bowel Syndrome is CLMP (CXADR Like Membrane Protein). The drugs Calcium polycarbophil and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and kidney, and related phenotypes are intestinal hypoplasia and short stature

OMIM : 56 Infants with congenital short bowel syndrome are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by van der Werf et al., 2012). (615237)

KEGG : 36 Congenital short bowel syndrome (CSBS) is an inherited intestinal disorder occurring in newborns and infants. Affected babies typically present a shortened bowel (approximately 50 cm) compared with normal lenth rages from 190 to 280 cm. CSBS causes malabsorption and the most common symptoms including chronic diarrhea, vomiting and weight loss, thus leading to failure to thrive. Gene mutation in coxsakie and adenovirus receptor-like membrane protein (CLMP) has been reported to be associated with this disease.

Wikipedia : 74 Short bowel syndrome (SBS, or simply short gut) is a malabsorption disorder caused by a lack of... more...

Related Diseases for Congenital Short Bowel Syndrome

Diseases in the Short Bowel Syndrome family:

Congenital Short Bowel Syndrome Primary Short Bowel Syndrome
Secondary Short Bowel Syndrome

Diseases related to Congenital Short Bowel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 short bowel syndrome 29.9 FLNA CLMP
2 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 12.3
3 cockayne syndrome b 12.2
4 cockayne syndrome 11.8
5 intestinal pseudo-obstruction 11.7
6 cockayne syndrome a 11.6
7 uv-sensitive syndrome 11.5
8 craniosynostosis 2 11.5
9 cockayne syndrome type iii 11.2
10 xeroderma pigmentosum, variant type 10.5
11 premature aging 10.5
12 helix syndrome 10.3
13 sensorineural hearing loss 10.3
14 microcephaly 10.3
15 cataract 10.3
16 hutchinson-gilford progeria syndrome 10.2
17 cerebrooculofacioskeletal syndrome 1 10.2
18 de sanctis-cacchione syndrome 10.2
19 cerebrooculofacioskeletal syndrome 2 10.2
20 cerebrooculofacioskeletal syndrome 4 10.2
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
22 cerebro-oculo-facio-skeletal syndrome 10.2
23 diarrhea 10.1
24 ovarian cancer 10.0
25 3-methylglutaconic aciduria, type iii 10.0
26 xeroderma pigmentosum, complementation group c 10.0
27 dysphasia, familial developmental 10.0
28 uv-sensitive syndrome 1 10.0
29 xeroderma pigmentosum, complementation group b 10.0
30 alkuraya-kucinskas syndrome 10.0
31 autism spectrum disorder 10.0
32 specific language impairment 10.0
33 allergic hypersensitivity disease 10.0
34 dermatomycosis 10.0
35 skin carcinoma 10.0
36 liver disease 10.0
37 dentinogenesis imperfecta type 2 10.0
38 dwarfism 10.0
39 hypertonia 10.0
40 hypotonia 10.0
41 hypoxia 10.0
42 congenital amyoplasia 10.0
43 volvulus of midgut 10.0
44 hair whorl 9.8
45 lipomatosis, multiple 9.8
46 meckel diverticulum 9.8
47 pancreas, annular 9.8
48 enterocolitis 9.8
49 pyloric atresia 9.8
50 autosomal recessive disease 9.8

Graphical network of the top 20 diseases related to Congenital Short Bowel Syndrome:



Diseases related to Congenital Short Bowel Syndrome

Symptoms & Phenotypes for Congenital Short Bowel Syndrome

Human phenotypes related to Congenital Short Bowel Syndrome:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intestinal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005245
2 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
3 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
4 lipoatrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100578
5 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
6 sparse hair 31 frequent (33%) HP:0008070
7 vomiting 31 occasional (7.5%) HP:0002013
8 displacement of the urethral meatus 31 occasional (7.5%) HP:0100627
9 failure to thrive 31 HP:0001508
10 hypotrichosis 58 Frequent (79-30%)
11 chronic diarrhea 31 HP:0002028
12 displacement of the external urethral meatus 58 Occasional (29-5%)
13 steatorrhea 31 HP:0002570
14 congenital shortened small intestine 31 HP:0030889
15 decreased intestinal transit time 31 HP:0030897
16 abnormal peristalsis 31 HP:0030914

Symptoms via clinical synopsis from OMIM:

56
Growth:
failure to thrive

Abdomen Gastrointestinal:
intestinal malrotation
chronic diarrhea
steatorrhea
decreased intestinal transit time
abnormal peristalsis
more

Clinical features from OMIM:

615237

Drugs & Therapeutics for Congenital Short Bowel Syndrome

Drugs for Congenital Short Bowel Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium polycarbophil Approved Phase 4 126040-58-2
2 Gastrointestinal Agents Phase 4
3 Laxatives Phase 4
4 Cathartics Phase 4
5 Psyllium Phase 4
6
Prucalopride Approved Phase 3 179474-81-8
7 Serotonin Receptor Agonists Phase 3
8
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
9
Rifaximin Approved, Investigational Phase 2 80621-81-4 6436173 46783403
10 Pharmaceutical Solutions Phase 2
11 Anti-Bacterial Agents Phase 2
12 Anti-Infective Agents Phase 2
13
Metronidazole Approved 443-48-1 4173
14
Linaclotide Approved 851199-59-2 65351
15
Dopamine Approved 51-61-6, 62-31-7 681
16
Domperidone Approved, Investigational, Vet_approved 57808-66-9 3151
17 Nutrients
18 Plantain
19 Neurotransmitter Agents
20 Dopamine Antagonists
21 Antiemetics
22 Dopamine Agents

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 Investigation of Dried Plums in the Treatment of Adults With Constipation Completed NCT01180725 Phase 4
2 The Effects of Gum Chewing on Bowel Function Recovery Following Cesarean Section: Randomized Controlled Trial Completed NCT01131416 Phase 2, Phase 3
3 A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel-group Trial of Linaclotide Administered Orally for 12 Weeks Followed by a 4-Week Randomized Withdrawal Period in Patients With Chronic Constipation Completed NCT00730015 Phase 3 Matching Placebo;Linaclotide
4 A Phase III, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Trial of Linaclotide Administered Orally for 12 Weeks in Patients With Chronic Constipation Completed NCT00765882 Phase 3 Linaclotide 290 micrograms;Linaclotide 145 micrograms;Placebo
5 A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel-group Trial of Linaclotide (72 ug or 145 ug) Administered Orally for 12 Weeks to Patients With Chronic Idiopathic Constipation Completed NCT02291679 Phase 3 Linaclotide;Matching Placebo
6 Efficacy of Prucalopride in Critically Ill Patients With Paralytic Ileus; a Pilot Randomized Double-blind Controlled Trial Recruiting NCT04190173 Phase 3 Prucalopride;Placebo
7 Effects of Gum Chewing on Recovery of Bowel Function Following Abdominal Surgery for Endometrial and Ovarian Cancer: a Randomized Controlled Trial Withdrawn NCT01389986 Phase 2, Phase 3
8 Effect of Daikenchuto (TJ-100) on Intestinal Dysmotility and For the Prevention of Postoperative Paralytic Ileus in Patients Undergoing Pancreaticoduodenectomy: A Multicenter, Randomized, Placebo-Controlled Phase II Trial Unknown status NCT01607307 Phase 2 Oral/enteral TJ-100 solution;Oral/enteral placebo solution
9 A Double-Blind, Placebo-Controlled, Cross-Over, Multiple (n=1) Trial to Evaluate the Effects of R093877 in Patients With Chronic Intestinal Pseudo-Obstruction (CIP). Completed NCT00793247 Phase 2 PRU-PLA-PRU-PLA;PLA-PRU-PLA-PRU;PLA-PRU-PRU-PLA;PRU-PLA-PLA-PRU
10 A Multicenter, Double-Blind, Randomized, Placebo-Controlled, 12-Week, Dose-Range-Finding Trial of YKP10811 Capsules Administered Once Daily to Subjects With Chronic Idiopathic Constipation Completed NCT01989234 Phase 2 YKP10811;Placebo
11 Efficacy and Safety of Rifaximin for Patients With Chronic Intestinal Pseudo-obstruction: a Single Center, Randomized, Placebo Controlled, Double-blind Phase 2 Trial Recruiting NCT04118699 Phase 2 Rifaximin oral tablet;Placebo oral tablet
12 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Multiple Dose Study to Evaluate Safety, Tolerability and Efficacy of Orally Administered ENT-01 for the Treatment of Parkinson's Disease-Related Constipation (KARMET) Active, not recruiting NCT03781791 Phase 2 Active Investigational Treatment ENT-01;Placebo Treatment
13 Acupuncture to Prevent Postoperative Paralytic Ileus Terminated NCT00065234 Phase 2
14 Post-Hoc Analysis of Dynamic Magnetic Resonance Sequences to Establish Descriptive Metrics for Small Bowel Motility in Vivo Unknown status NCT02754869
15 Effects of Laser Acupuncture Therapy on Paralytic Ileus Unknown status NCT03041675
16 Electrophysiologic Indicators of Gating and Timing Abnormalities in Autism Unknown status NCT00319722
17 Efficacy and Safety of Fecal Microbiota Transplantation in Treatment of Chronic Intestinal Pseudo-obstruction: a Preliminary Study Completed NCT02731183
18 Measurement of Body Composition by Air Displacement Plethysmography in Pediatric Intestinal Failure Patients Completed NCT02561819
19 Small Bowel Motor Impairment in Scleroderma: Results of a Prospective 5-year Manometric Follow-up Completed NCT00213460
20 The Effect of Postoperative Chewing Gum on Intestinal Functions After Gynecological Laparoscopic Surgery Completed NCT03884244
21 Phase II Feasibility Study of the Efficacy and Acceptability of a Low Residue Diet in Adult Patients With Mitochondrial Disease Completed NCT03388528
22 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067
23 SmartPill Monitoring for Assessment of GI Function in SCI Completed NCT00856648
24 The Effect of Zespri Green Kiwifruit on Digestive and Gut Health Functions: a Multi-country, Randomized, Cross-over Clinical Intervention Completed NCT02888392
25 Building Social Skills in Children With ASD Characteristics Through Process Drama Completed NCT02850666
26 Investigation of Supra Fiber in the Treatment of Adults With Constipation-A Double-blind Randomized Controlled Trial Completed NCT01288508
27 Randomized Controlled Trial of Rib Raising as Early Treatment for Post-operative Ileus Recruiting NCT03662672
28 The Rare Disease Clinical Research Network Natural History Study of MNGIE Recruiting NCT01694953
29 Early Screening of Autism Spectrum Disorder in General and Pediatric Practices, Nurseries and Early Child Care Centers, Using Parent Questionnaires and Guidance for Addressing the Child Recruiting NCT04274127
30 Detection of ASD at the 1st Birthday as Standard of Care: The Get SET Early Model Recruiting NCT02463422
31 Assessment of Responsiveness to Treatment of the Experience Sampling Method (ESM) in Irritable Bowel Syndrome (IBS) Using Linaclotide Recruiting NCT03336034
32 Effects of a Short-term Parent Mediated Social Training on Developmental Trajectories in Infants Recruiting NCT03404505
33 A Randomized Controlled Double-blinded of Effectiveness of Prokinetic Agents in Improving Abdominal Discomfort at Pre- and Post- Colonoscopy Active, not recruiting NCT04104867 Itopride;Domperidone
34 A Case-control Study of the Gastrointestinal Response to a Liquid Test Meal in Chronic Intestinal Pseudo-obstruction, Using Magnetic Resonance Imaging Not yet recruiting NCT04193735
35 Randomized Controlled Trial of Biofeedback Therapy for Dyssynergic Defecation Terminated NCT00257842

Search NIH Clinical Center for Congenital Short Bowel Syndrome

Genetic Tests for Congenital Short Bowel Syndrome

Anatomical Context for Congenital Short Bowel Syndrome

MalaCards organs/tissues related to Congenital Short Bowel Syndrome:

40
Small Intestine, Liver, Kidney, Testes, Brain, Breast, Pancreas

Publications for Congenital Short Bowel Syndrome

Articles related to Congenital Short Bowel Syndrome:

(show top 50) (show all 184)
# Title Authors PMID Year
1
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. 6 61 56
22155368 2012
2
Congenital short bowel syndrome: a case report and review of the literature. 61 56 6
18209785 2008
3
Long-term outcome of a patient with congenital short bowel syndrome. 61 6 56
16707984 2006
4
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 6
17357080 2007
5
Congenital short-bowel; a case study and review of the literature. 56
10532268 1999
6
The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. 6
8644737 1996
7
Long-term survival of a patient with congenital short bowel and malrotation. 56
2005514 1991
8
Short small intestine associated with malrotation: a newly described congenital cause of intestinal malabsorption. 56
5765427 1969
9
Using generalizability theory to evaluate the comparative reliability of developmental measures in neurogenetic syndrome and low-risk populations. 61
32503425 2020
10
Association of eszopiclone, zaleplon, or zolpidem with complex sleep behaviors resulting in serious injuries, including death. 61
32323442 2020
11
Communication behaviours of children with cerebral palsy who are minimally verbal. 61
32557737 2020
12
Cytocompatibility, bioactivity potential, and ion release of three premixed calcium silicate-based sealers. 61
31399829 2020
13
A Two-Stage Screening Approach with I-TC and Q-CHAT to Identify Toddlers at Risk for Autism Spectrum Disorder within the Italian Public Health System. 61
32210022 2020
14
Congenital short bowel syndrome: systematic review of a rare condition. 61
32278545 2020
15
Complete mtDNA genome of Otus sunia (Aves, Strigidae) and the relaxation of selective constrains on Strigiformes mtDNA following evolution. 61
32135299 2020
16
Charge-Shift Bonding: A New and Unique Form of Bonding. 61
31476104 2020
17
Clinical cure rate and cost-effectiveness of carbapenem-sparing beta-lactams vs. meropenem for Gram-negative infections: A systematic review, meta-analysis, and cost-effectiveness analysis. 61
31284041 2019
18
Adsorption characteristics and mechanism of Pb(II) by agricultural waste-derived biochars produced from a pilot-scale pyrolysis system. 61
31568977 2019
19
SEVERE HYPERCALCEMIA AFTER JOINT ARTHROSCOPY: CALCIUM SULFATE BEADS TO BLAME. 61
31967074 2019
20
PROLONGED HYPERCALCEMIA FROM ANTIBIOTIC-ELUTING CALCIUM SULFATE BEADS. 61
31967068 2019
21
Comparative efficacy of pharmacological and nonpharmacological treatments for chronic idiopathic constipation in China: a Bayesian network meta-analysis. 61
31727037 2019
22
Effect of extruded adzuki bean flour on the quality and α-glucosidase inhibitory activity of Chinese steamed bread. 61
31660138 2019
23
Alternative technique to save ischemic bowel segment in management of neonatal short bowel syndrome: A case report. 61
31667191 2019
24
The First Complete Mitochondrial Genome of the Flathead Cociella crocodilus (Scorpaeniformes: Platycephalidae) and the Phylogenetic Relationships within Scorpaeniformes Based on Whole Mitogenomes. 61
31311107 2019
25
First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the CLMP Gene. 61
31061750 2019
26
Validating and Applying the CSBS-ITC in Neurogenetic Syndromes. 61
31026205 2019
27
A review on applications of chitosan-based Schiff bases. 61
30753877 2019
28
CSBFinder: discovery of colinear syntenic blocks across thousands of prokaryotic genomes. 61
30321308 2019
29
Diverse synaptic and dendritic mechanisms of complex spike burst generation in hippocampal CA3 pyramidal cells. 61
31015414 2019
30
Complex sexual behaviors during sleep as a manifestation of epilepsy: a case series. 61
30476248 2019
31
Identification of Key Aroma Compounds in Type I Sourdough-Based Chinese Steamed Bread: Application of Untargeted Metabolomics Analysisp. 61
30769815 2019
32
Complete mitochondrial genome of the Western Capercaillie Tetrao urogallus (Phasianidae, Tetraoninae). 61
30790836 2019
33
The complete mitochondrial genome of Budorcas taxicolor tibetana (Artiodactyla: Bovidae) and comparison with other Caprinae species: Insight into the phylogeny of the genus Budorcas. 61
30296464 2019
34
A Cross-sectional Study of Cancer Knowledge and Beliefs Among Faith-based Chinese in the USA Versus Taiwan. 61
30742762 2019
35
The Preliminary Development and Validation of a Trauma-Related Safety-Seeking Behavior Measure for Youth: The Child Safety Behavior Scale (CSBS). 61
30338580 2018
36
Walking Ability is Associated with Social Communication Skills in Infants at High Risk for Autism Spectrum Disorder. 61
30271278 2018
37
Mutational analysis of a Drosophila neuroblast enhancer governing nubbin expression during CNS development. 61
30005136 2018
38
Exploration of mtDNA control region sequences in Chinese Tibetan Mastiffs. 61
28756720 2018
39
Shared latrines in Maputo, Mozambique: exploring emotional well-being and psychosocial stress. 61
30045729 2018
40
"Pornographic binges" as a key characteristic of males seeking treatment for compulsive sexual behaviors: Qualitative and quantitative 10-week-long diary assessment. 61
29865868 2018
41
Promoting educational, classification, treatment, and policy initiatives. 61
29895182 2018
42
Microwave-Induced Synthesis of Chitosan Schiff Bases and Their Application as Novel and Green Corrosion Inhibitors: Experimental and Theoretical Approach. 61
31458765 2018
43
Congenital Short-Bowel Syndrome in an Adult Dog. 61
29310549 2018
44
Hemiptera Mitochondrial Control Region: New Sights into the Structural Organization, Phylogenetic Utility, and Roles of Tandem Repetitions of the Noncoding Segment. 61
29701634 2018
45
The complete mitochondrial genome of the alvinocaridid shrimp Shinkaicaris leurokolos (Decapoda, Caridea): Insight into the mitochondrial genetic basis of deep-sea hydrothermal vent adaptation in the shrimp. 61
29145028 2018
46
Predominant yeasts in Chinese traditional sourdough and their influence on aroma formation in Chinese steamed bread. 61
29037707 2018
47
Locating People Diagnosed With HIV for Public Health Action: Utility of HIV Case Surveillance and Other Data Sources. 61
29486143 2018
48
Structure and cis-regulatory analysis of a Drosophila grainyhead neuroblast enhancer. 61
29417712 2018
49
Nature of the Three-Electron Bond. 61
29338261 2018
50
The IgCAM CLMP regulates expression of Connexin43 and Connexin45 in intestinal and ureteral smooth muscle contraction in mice. 61
29361518 2018

Variations for Congenital Short Bowel Syndrome

ClinVar genetic disease variations for Congenital Short Bowel Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLMP NM_024769.4(CLMP):c.230del (p.Glu77fs)deletion Pathogenic 50383 rs587776964 11:122955378-122955378 11:123084670-123084670
2 CLMP NM_024769.4(CLMP):c.821G>A (p.Arg274Gln)SNV Pathogenic 50384 rs587776965 11:122945410-122945410 11:123074702-123074702
3 CLMP NM_024769.4(CLMP):c.664C>T (p.Arg222Ter)SNV Pathogenic 50385 rs587776966 11:122953808-122953808 11:123083100-123083100
4 CLMP NM_024769.4(CLMP):c.371T>A (p.Val124Asp)SNV Pathogenic 50386 rs587776967 11:122955237-122955237 11:123084529-123084529
5 CLMP NM_024769.4(CLMP):c.508C>T (p.Arg170Ter)SNV Pathogenic 224071 rs765907815 11:122954436-122954436 11:123083728-123083728

UniProtKB/Swiss-Prot genetic disease variations for Congenital Short Bowel Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 CLMP p.Val124Asp VAR_069713 rs587776967

Expression for Congenital Short Bowel Syndrome

Search GEO for disease gene expression data for Congenital Short Bowel Syndrome.

Pathways for Congenital Short Bowel Syndrome

GO Terms for Congenital Short Bowel Syndrome

Sources for Congenital Short Bowel Syndrome

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