MCID: INT072
MIFTS: 57

Intestinal Pseudo-Obstruction

Categories: Rare diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Gastrointestinal diseases

Aliases & Classifications for Intestinal Pseudo-Obstruction

MalaCards integrated aliases for Intestinal Pseudo-Obstruction:

Name: Intestinal Pseudo-Obstruction 12 72 49 24 28 51 41 14 69
Pseudo-Obstruction of Intestine 12 24
Familial Visceral Neuropathy 24 69
Familial Visceral Myopathy 24 55
Hollow Visceral Myopathy 49 69
Paralytic Ileus 24 69
Congenital Idiopathic Intestinal Pseudoobstruction 69
Chronic Idiopathic Intestinal Pseudo-Obstruction 24
Pseudointestinal Obstruction Syndrome 24
Hereditary Hollow Visceral Myopathy 55
Familial Hollow Visceral Myopathy 55
Congenital Short Bowel Syndrome 24
Megaduodenum and/or Megacystis 55
Intestinal Pseudoobstruction 49
Intestine Pseudoobstruction 12
Visceral Myopathy, Familial 69
Pseudoobstructive Syndrome 24
Enteric Neuropathy 24
Ciip 24
Cipo 24
Ipo 24

Characteristics:

Orphanet epidemiological data:

55
familial visceral myopathy
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



Summaries for Intestinal Pseudo-Obstruction

NIH Rare Diseases : 49 Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. It may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner) and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms and ensure that nutritional support is adequate. Last updated: 4/1/2015

MalaCards based summary : Intestinal Pseudo-Obstruction, also known as pseudo-obstruction of intestine, is related to chronic intestinal pseudoobstruction and intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked, and has symptoms including megacystis, hydroureter and vesicoureteral reflux. An important gene associated with Intestinal Pseudo-Obstruction is CLMP (CXADR Like Membrane Protein), and among its related pathways/superpathways is Smooth Muscle Contraction. The drugs Acetylcysteine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, small intestine and colon, and related phenotypes are behavior/neurological and growth/size/body region

Genetics Home Reference : 24 Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).

Wikipedia : 72 Intestinal pseudo-obstruction is a clinical syndrome caused by severe impairment in the ability of the... more...

Related Diseases for Intestinal Pseudo-Obstruction

Diseases in the Intestinal Obstruction family:

Intestinal Pseudo-Obstruction

Diseases related to Intestinal Pseudo-Obstruction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 chronic intestinal pseudoobstruction 33.5 ACTG2 SOX10
2 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 33.5 CLMP FLNA
3 visceral myopathy 32.6 ACTG2 MYH11
4 congenital short bowel syndrome 32.1 CLMP FLNA
5 hypoganglionosis 30.0 RET SYP
6 multiple endocrine neoplasia, type iib 29.7 EDNRB RET
7 constipation 29.7 EDNRB FLNA RET
8 hydrocephalus 29.3 FLNA L1CAM SYP
9 megacolon 29.2 EDNRB RET SOX10 TLX2
10 hirschsprung disease 1 28.7 EDNRB L1CAM RET SOX10 SYP
11 paralytic ileus 12.6
12 chronic atrial and intestinal dysrhythmia 11.5
13 mitochondrial neurogastrointestinal encephalopathy disease 11.4
14 mungan syndrome 11.2
15 colonic pseudo-obstruction 11.2
16 visceral neuropathy familial 11.0
17 visceral neuropathy, familial, autosomal dominant 11.0
18 systemic lupus erythematosus 10.5
19 lupus erythematosus 10.5
20 myopathy 10.4
21 scleroderma, familial progressive 10.3
22 amyloidosis 10.3
23 neuropathy 10.3
24 lichen nitidus 10.3 FLNA RET
25 peritonitis 10.3
26 diphyllobothriasis 10.2 FLNA MT-TL1
27 thymoma, familial 10.2
28 thymoma 10.2
29 neuronitis 10.2
30 shoulder impingement syndrome 10.2 FLNA RET
31 appendicitis 10.2
32 waardenburg syndrome, type 2e 10.1 EDNRB SOX10
33 kawasaki disease 10.1
34 waardenburg syndrome type 4 10.1 EDNRB SOX10
35 ectopic cushing syndrome 10.1 RET SYP
36 myasthenia gravis 10.1
37 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
38 myasthenia gravis congenital 10.1
39 polymyositis 10.1
40 cochlear disease 10.1 EDNRB SOX10
41 lung cancer 10.0
42 pneumatosis cystoides intestinalis 10.0
43 pancreatitis 10.0
44 myotonic dystrophy 10.0
45 encephalopathy 10.0
46 breast papillary carcinoma 10.0 RET SYP
47 multiple sclerosis 9.9
48 pheochromocytoma 9.9
49 small cell cancer of the lung 9.9
50 mitochondrial myopathy 9.9

Graphical network of the top 20 diseases related to Intestinal Pseudo-Obstruction:



Diseases related to Intestinal Pseudo-Obstruction

Symptoms & Phenotypes for Intestinal Pseudo-Obstruction

Human phenotypes related to Intestinal Pseudo-Obstruction:

55 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 megacystis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000021
2 hydroureter 55 31 hallmark (90%) Very frequent (99-80%) HP:0000072
3 vesicoureteral reflux 55 31 hallmark (90%) Very frequent (99-80%) HP:0000076
4 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
5 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
6 round face 55 31 occasional (7.5%) Occasional (29-5%) HP:0000311
7 broad forehead 55 31 occasional (7.5%) Occasional (29-5%) HP:0000337
8 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
9 low-set, posteriorly rotated ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000368
10 prominent nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000426
11 anteverted nares 55 31 occasional (7.5%) Occasional (29-5%) HP:0000463
12 narrow chest 55 31 occasional (7.5%) Occasional (29-5%) HP:0000774
13 hyperparathyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000843
14 arachnodactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001166
15 joint stiffness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001387
16 umbilical hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001537
17 anonychia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001798
18 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%) HP:0002251
19 abdominal distention 55 31 frequent (33%) Frequent (79-30%) HP:0003270
20 abdominal situs inversus 55 31 occasional (7.5%) Occasional (29-5%) HP:0003363
21 aplasia/hypoplasia of the abdominal wall musculature 55 31 frequent (33%) Frequent (79-30%) HP:0010318
22 camptodactyly of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0100490
23 malformation of the heart and great vessels 55 Occasional (29-5%)
24 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680

UMLS symptoms related to Intestinal Pseudo-Obstruction:


vomiting

MGI Mouse Phenotypes related to Intestinal Pseudo-Obstruction:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 RET ATXN7 SGO1 CLMP SOX10 EDNRB
2 growth/size/body region MP:0005378 9.81 L1CAM MYH11 RET ATXN7 CLMP SOX10
3 digestive/alimentary MP:0005381 9.8 MYH11 RET SGO1 SOX10 EDNRB TLX2
4 mortality/aging MP:0010768 9.65 MYH11 RET ATXN7 SGO1 CLMP SOX10
5 nervous system MP:0003631 9.28 RET ATXN7 SOX10 EDNRB SYP TLX2

Drugs & Therapeutics for Intestinal Pseudo-Obstruction

Drugs for Intestinal Pseudo-Obstruction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
rituximab Approved Phase 2 174722-31-7 10201696
7 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
8 Tocopherol Approved, Investigational, Nutraceutical Phase 2
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Pharmaceutical Solutions Phase 2
11 Alkylating Agents Phase 2
12 Antilymphocyte Serum Phase 2
13 Antimetabolites Phase 2
14 Antimetabolites, Antineoplastic Phase 2
15 Immunosuppressive Agents Phase 2
16 N-monoacetylcystine Phase 2
17 Thioctic Acid Phase 2
18 Tocopherols Phase 2
19 Tocotrienols Phase 2
20 Vitamins Phase 2
21 Alpha-lipoic Acid Nutraceutical Phase 2
22 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
23 Cola Nutraceutical Phase 1

Interventional clinical trials:

(show all 12)

# Name Status NCT ID Phase Drugs
1 The Effects of Gum Chewing on Bowel Function Recovery Following Cesarean Section Completed NCT01131416 Phase 2, Phase 3
2 Effects of Gum Chewing on Recovery of Bowel Function Following Abdominal Surgery for Endometrial and Ovarian Cancer Withdrawn NCT01389986 Phase 2, Phase 3
3 Daikenchuto for Intestinal Dysmotility and Prevention of Postoperative Paralytic Ielus After Pancreaticoduodenectomy Unknown status NCT01607307 Phase 2 Oral/enteral TJ-100 solution;Oral/enteral placebo solution
4 Efficacy Study of Prucalopride to Treat 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
5 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
6 Acupuncture to Prevent Postoperative Bowel Paralysis (Paralytic Ileus) Terminated NCT00065234 Phase 2
7 Therapeutic Oxygen for Gastrointestinal Atony (TOGA) Recruiting NCT03386136 Phase 1 100% Oxygen
8 Efficacy and Safety of Fecal Microbiota Transplantation for Chronic Intestinal Pseudo-obstruction Completed NCT02731183
9 Small Bowel Motor Impairment in Scleroderma: Results of a Prospective 5-year Manometric Follow-up Completed NCT00213460
10 Effects of Laser Acupuncture Therapy on Paralytic Ileus Recruiting NCT03041675
11 Measurement of Body Composition by Air Displacement Plethysmography in Pediatric Intestinal Failure Patients Recruiting NCT02561819
12 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815

Search NIH Clinical Center for Intestinal Pseudo-Obstruction

Cochrane evidence based reviews: intestinal pseudo-obstruction

Genetic Tests for Intestinal Pseudo-Obstruction

Genetic tests related to Intestinal Pseudo-Obstruction:

# Genetic test Affiliating Genes
1 Intestinal Pseudo-Obstruction 28

Anatomical Context for Intestinal Pseudo-Obstruction

MalaCards organs/tissues related to Intestinal Pseudo-Obstruction:

38
Smooth Muscle, Small Intestine, Colon, Lung, Heart, Liver, Lymph Node

Publications for Intestinal Pseudo-Obstruction

Articles related to Intestinal Pseudo-Obstruction:

(show top 50) (show all 473)
# Title Authors Year
1
Multimodal Surgical Approach for Adult Patients With Chronic Intestinal Pseudo-Obstruction: Clinical and Psychosocial Long-term Outcomes. ( 29407314 )
2018
2
Immune-related intestinal pseudo-obstruction associated with nivolumab treatment in a lung cancer patient. ( 29067858 )
2017
3
Successful treatment of a refractory dysbiotic intestinal pseudo-obstruction in a patient with systemic sclerosis-polymyositis overlap syndrome by intravenous immunoglobulin administration possibly related to gut flora normalisation. ( 28229828 )
2017
4
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. ( 28422808 )
2017
5
Respiratory Failure Due to Intestinal Pseudo-obstruction in Systemic Sclerosis. ( 28277347 )
2017
6
Chronic intestinal pseudo-obstruction in children and adults: diagnosis and therapeutic options. ( 27683196 )
2017
7
Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation. ( 28458318 )
2017
8
Chronic intestinal pseudo-obstruction: Progress in management? ( 29143474 )
2017
9
Multiple myeloma associated intestinal amyloidosis: intestinal pseudo-obstruction falsely considered as an ascites. ( 28875827 )
2017
10
Successful treatment of prokinetic-resistant intestinal pseudo-obstruction and pneumatosis cystoides intestinalis in systemic sclerosis with metronidazole. ( 28213637 )
2017
11
Pharmacotherapy for pediatric chronic intestinal pseudo-obstruction: Nationwide survey in Japan. ( 27862707 )
2017
12
Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases? ( 28377888 )
2017
13
Chronic Intestinal Pseudo-obstruction and Orthostatic Hypotension Associated with Small Cell Lung Cancer that Improved with Tumor Reduction after Chemoradiotherapy. ( 28883237 )
2017
14
Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant. ( 29072330 )
2017
15
Intestinal Pseudo-Obstruction as the Presenting Manifestation of Kawasaki Disease. ( 28417227 )
2017
16
Urinary glutamine/glutamate ratio as a potential biomarker of pediatric chronic intestinal pseudo-obstruction. ( 28351420 )
2017
17
A frequently missed entity in systemic lupus erythematosus (SLE): Intestinal pseudo-obstruction (IpsO). ( 29308779 )
2017
18
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. ( 28927774 )
2017
19
Amyloidosis: An Unusual Cause of Intestinal Pseudo-Obstruction. ( 28711693 )
2017
20
Efficacy of percutaneous endoscopic gastro-jejunostomy (PEG-J) decompression therapy for patients with chronic intestinal pseudo-obstruction (CIPO). ( 28631871 )
2017
21
Comparative quantitative assessment of global small bowel motility using magnetic resonance imaging in chronic intestinal pseudo-obstruction and healthy controls. ( 26661570 )
2016
22
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. ( 26813947 )
2016
23
Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate. ( 27264907 )
2016
24
Chronic intestinal pseudo-obstruction: An unusual presentation. ( 27852553 )
2016
25
Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity. ( 26828629 )
2016
26
Surgical abdomen with intestinal pseudo-obstruction as presenting feature of atypical Kawasaki disease. ( 27654849 )
2016
27
Utility of Octreotide in Advancing Enteral Feeds in Children with Chronic Intestinal Pseudo-Obstruction. ( 27520652 )
2016
28
Clinical Features, Morbidity, and Risk Factors of Intestinal Pseudo-obstruction in Systemic Lupus Erythematosus: A Retrospective Case-control Study. ( 26773109 )
2016
29
Acute lupus pneumonitis followed by intestinal pseudo-obstruction in systemic lupus erythematosus: A case report. ( 27347044 )
2016
30
Chronic Intestinal Pseudo-Obstruction: Clinical and Manometric Characteristics in the Chilean Population. ( 27669829 )
2016
31
Smooth-Muscle Myopathy in Systemic Lupus Erythematosus Presenting With Intestinal Pseudo-Obstruction. ( 27694873 )
2016
32
Chronic intestinal pseudo-obstruction associated with enteric ganglionitis in a Persian cat. ( 28491428 )
2016
33
Chronic Intestinal Pseudo-Obstruction. ( 27305875 )
2016
34
Clinical importance of cine-MRI assessment of small bowel motility in patients with chronic intestinal pseudo-obstruction: a retrospective study of 33 patients. ( 27549243 )
2016
35
Intestinal Leiomyositis: A Cause of Chronic Intestinal Pseudo-Obstruction in 6 Dogs. ( 26608226 )
2016
36
Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation. ( 27273837 )
2016
37
Intestinal pseudo-obstruction in patients with systemic sclerosis: an analysis of the Nationwide Inpatient Sample. ( 26615031 )
2016
38
Two Cases of Chronic Intestinal Pseudo-obstruction: A Comparison of Staining Characteristics of Enteric Visceral Myopathy With Hirschsprung Disease. ( 26808129 )
2016
39
Serial Frozen Fecal Microbiota Transplantation in the Treatment of Chronic Intestinal Pseudo-obstruction: A Preliminary Study. ( 27840368 )
2016
40
Intestinal pseudo-obstruction in mitochondrial diseases. ( 27804144 )
2016
41
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction. ( 26818569 )
2016
42
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. ( 25575569 )
2015
43
Abnormal layering of muscularis propria as a cause of chronic intestinal pseudo-obstruction: A case report and literature review. ( 26078585 )
2015
44
Intestinal Pseudo-Obstruction as an Initial Manifestation of Systemic Lupus Erythematosus. ( 26131004 )
2015
45
Kawasaki's disease: an often overlooked cause of intestinal pseudo-obstruction in children. ( 26386569 )
2015
46
Clinical analysis of 61 systemic lupus erythematosus patients with intestinal pseudo-obstruction and/or ureterohydronephrosis: a retrospective observational study. ( 25634172 )
2015
47
OP-8 SOCIAL CONCERNS IN CHILDREN BEING INVESTIGATED FOR CHRONIC INTESTINAL PSEUDO-OBSTRUCTION. ( 26439549 )
2015
48
Percutaneous endoscopic cecostomy (introducer method) in chronic intestinal pseudo-obstruction - report of two cases and literature review. ( 26493622 )
2015
49
Predictors of intestinal pseudo-obstruction in systemic lupus erythematosus complicated by digestive manifestations: data from a Southern China lupus cohort. ( 26405024 )
2015
50
A case report of chronic intestinal pseudo-obstruction with autoimmune autonomic ganglionopathy suspected from seropositive results for anti-ganglionic acetylcholine receptor antibody. ( 25744921 )
2015

Variations for Intestinal Pseudo-Obstruction

ClinVar genetic disease variations for Intestinal Pseudo-Obstruction:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLMP NM_024769.3(CLMP): c.230delA (p.Glu77Glyfs) deletion Pathogenic rs587776964 GRCh37 Chromosome 11, 122955378: 122955378
2 CLMP NM_024769.3(CLMP): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776965 GRCh37 Chromosome 11, 122945410: 122945410
3 CLMP NM_024769.3(CLMP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs587776966 GRCh37 Chromosome 11, 122953808: 122953808
4 CLMP NM_024769.3(CLMP): c.371T> A (p.Val124Asp) single nucleotide variant Pathogenic rs587776967 GRCh37 Chromosome 11, 122955237: 122955237
5 CLMP NM_024769.3(CLMP): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs765907815 GRCh38 Chromosome 11, 123083728: 123083728

Expression for Intestinal Pseudo-Obstruction

Search GEO for disease gene expression data for Intestinal Pseudo-Obstruction.

Pathways for Intestinal Pseudo-Obstruction

Pathways related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.18 ACTG2 MYH11

GO Terms for Intestinal Pseudo-Obstruction

Cellular components related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin filament GO:0032982 8.62 ACTG2 MYH11

Biological processes related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peripheral nervous system development GO:0007422 9.37 EDNRB SOX10
2 response to pain GO:0048265 9.32 EDNRB RET
3 melanocyte differentiation GO:0030318 9.26 EDNRB SOX10
4 posterior midgut development GO:0007497 9.16 EDNRB RET
5 neural crest cell migration GO:0001755 9.13 EDNRB RET SOX10
6 enteric nervous system development GO:0048484 8.92 EDNRB RET SOX10 TLX2

Sources for Intestinal Pseudo-Obstruction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....