CSBSX
MCID: INT319
MIFTS: 40

Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked (CSBSX)

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

Aliases & Classifications for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

MalaCards integrated aliases for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:

Name: Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 57 72 29 6
Congenital Idiopathic Intestinal Pseudoobstruction 57 20 72 70
Congenital Short Bowel Syndrome, X-Linked 72 29 6
Ciipx 57 20 72
Ipox 57 20 72
Ciip 57 20 72
Ciip X-Linked 20 72
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, with Central Nervous System Involvement 57
Pseudoobstruction, Intestinal, Neuronal, Chronic Idiopathic, X-Linked 39
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked 20
Congenital Idiopathic Intestinal Pseudoobstruction; Ciip 57
Intestinal Pseudoobstruction, Neuronal 57
Neuronal Intestinal Pseudoobstruction 70
Congenital Short Bowel Syndrome 57
Intestinal Pseudo-Obstruction 70
Ciip, X-Linked; Ciipx 57
Ciip, X-Linked 57
Csbsx 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
onset in infancy
mild facial dysmorphism is associated with duplication of the flna gene

Inheritance:
x-linked recessive


HPO:

31
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

GARD : 20 Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations ( mutations ) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.

MalaCards based summary : Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked, also known as congenital idiopathic intestinal pseudoobstruction, is related to congenital short bowel syndrome and intestinal pseudo-obstruction, and has symptoms including vomiting An important gene associated with Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked is FLNA (Filamin A). The drugs Prucalopride and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include small intestine, pineal and pancreas, and related phenotypes are hydronephrosis and pyloric stenosis

OMIM® : 57 Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996). Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; 142623) and autosomal recessive visceral neuropathy (243180) (Tanner et al., 1976). (300048) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Congenital short bowel syndrome, X-linked: A disease characterized by a shortened small intestine, and malabsorption. The mean length of the small intestine in affected individuals is approximately 50 cm, compared with a normal length at birth of 190-280 cm. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea.
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked: A disease characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion.

Related Diseases for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Diseases related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 congenital short bowel syndrome 11.8
2 intestinal pseudo-obstruction 11.3
3 mungan syndrome 11.1
4 short bowel syndrome 10.7
5 volvulus of midgut 10.1
6 diarrhea 10.1
7 intestinal obstruction 10.1
8 secondary hyperparathyroidism 9.9
9 hyperparathyroidism 9.9
10 hair whorl 9.9
11 lipomatosis, multiple 9.9
12 meckel diverticulum 9.9
13 pancreas, annular 9.9
14 enterocolitis 9.9
15 pyloric atresia 9.9
16 autosomal recessive disease 9.9
17 umbilical hernia 9.9
18 pleomorphic lipoma 9.9
19 intestinal atresia 9.9
20 lipomatosis 9.9
21 perinatal necrotizing enterocolitis 9.9
22 dextrocardia 9.9
23 lactobezoar 9.9
24 acheiria 9.9
25 megacystis-microcolon-intestinal hypoperistalsis syndrome 9.9
26 microcolon 9.9
27 constipation 9.9
28 ileus 9.9
29 flna-related periventricular nodular heterotopia 9.8 LOC107988032 FLNA
30 periventricular nodular heterotopia 9.8 LOC107988032 FLNA
31 fg syndrome 2 9.8 LOC107988032 FLNA
32 periventricular nodular heterotopia 1 9.8 LOC107988032 FLNA
33 terminal osseous dysplasia 9.8 LOC107988032 FLNA
34 frontometaphyseal dysplasia 1 9.7 LOC107988032 FLNA
35 frontometaphyseal dysplasia 9.7 LOC107988032 FLNA
36 otopalatodigital syndrome, type ii 9.7 LOC107988032 FLNA
37 cardiac valvular dysplasia, x-linked 9.7 LOC107988032 FLNA
38 oto-palatal-digital syndrome 9.7 LOC107988032 FLNA
39 melnick-needles syndrome 9.6 LOC107988032 FLNA
40 blood group, i system 9.6 LOC107988032 FLNA
41 nodular neuronal heterotopia 9.5 LOC107988032 FLNA

Graphical network of the top 20 diseases related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:



Diseases related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked

Symptoms & Phenotypes for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Human phenotypes related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hydronephrosis 31 occasional (7.5%) HP:0000126
2 pyloric stenosis 31 occasional (7.5%) HP:0002021
3 spastic diplegia 31 occasional (7.5%) HP:0001264
4 seizure 31 occasional (7.5%) HP:0001250
5 congenital shortened small intestine 31 occasional (7.5%) HP:0030889
6 hypertelorism 31 HP:0000316
7 abnormal facial shape 31 HP:0001999
8 smooth philtrum 31 HP:0000319
9 feeding difficulties in infancy 31 HP:0008872
10 vomiting 31 HP:0002013
11 low-set ears 31 HP:0000369
12 thrombocytopenia 31 HP:0001873
13 downslanted palpebral fissures 31 HP:0000494
14 patent ductus arteriosus 31 HP:0001643
15 intestinal malrotation 31 HP:0002566
16 abdominal distention 31 HP:0003270
17 intestinal pseudo-obstruction 31 HP:0004389
18 increased mean platelet volume 31 HP:0011877
19 increased size of the mandible 31 HP:0040309

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Abdomen Gastrointestinal:
vomiting
abnormal gastrointestinal motility
poor feeding
intestinal pseudoobstruction, chronic
abnormal argyrophilic neurons in the myenteric and submucosal plexuses
more
Hematology:
thrombocytopenia
large platelets

Abdomen External Features:
abdominal distention

Neurologic Central Nervous System:
spastic diplegia (1 patient)
seizures (1 patient)

Head And Neck Face:
smooth philtrum
large jaw
facial dysmorphism, mild

Head And Neck Ears:
low-set ears

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary Kidneys:
hydronephrosis (1 patient)

Clinical features from OMIM®:

300048 (Updated 20-May-2021)

UMLS symptoms related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:


vomiting

Drugs & Therapeutics for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Drugs for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prucalopride Approved Phase 3 179474-81-8
2 Gastrointestinal Agents Phase 3
3 Cathartics Phase 3
4 Serotonin Receptor Agonists Phase 3
5 Neurotransmitter Agents Phase 3
6 Laxatives Phase 3
7
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
8
Rifaximin Approved, Investigational Phase 2 80621-81-4 6436173 46783403
9 Pharmaceutical Solutions Phase 2
10 Anti-Bacterial Agents Phase 2
11 Anti-Infective Agents Phase 2

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 The Effects of Gum Chewing on Bowel Function Recovery Following Cesarean Section: Randomized Controlled Trial Completed NCT01131416 Phase 2, Phase 3
2 Efficacy of Prucalopride in Critically Ill Patients With Paralytic Ileus; a Pilot Randomized Double-blind Controlled Trial Recruiting NCT04190173 Phase 3 Prucalopride;Placebo
3 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
4 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
5 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
6 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
7 Acupuncture to Prevent Postoperative Paralytic Ileus Terminated NCT00065234 Phase 2
8 The Rare Disease Clinical Research Network Natural History Study of MNGIE Unknown status NCT01694953
9 Effects of Laser Acupuncture Therapy on Paralytic Ileus Unknown status NCT03041675
10 Efficacy and Safety of Fecal Microbiota Transplantation in Treatment of Chronic Intestinal Pseudo-obstruction: a Preliminary Study Completed NCT02731183
11 Randomized Controlled Trial of Rib Raising as Early Treatment for Post-operative Ileus Completed NCT03662672
12 The Effect of Postoperative Chewing Gum on Intestinal Functions After Gynecological Laparoscopic Surgery Completed NCT03884244
13 A Case-control Study of the Gastrointestinal Response to a Liquid Test Meal in Chronic Intestinal Pseudo-obstruction, Using Magnetic Resonance Imaging Recruiting NCT04193735
14 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
15 Gastrointestinal Motility Diagnosis Registry Recruiting NCT04506593
16 Gum Chewing Reduces the Risk of Postoperative Ileus After Arthroplasty Procedures in The Elderly Population: A Parallel Design, Open-Label, Randomized Controlled Trial Not yet recruiting NCT04489875

Search NIH Clinical Center for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked

Genetic Tests for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Genetic tests related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:

# Genetic test Affiliating Genes
1 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 29 FLNA
2 Congenital Short Bowel Syndrome, X-Linked 29

Anatomical Context for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

MalaCards organs/tissues related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:

40
Small Intestine, Pineal, Pancreas, Breast

Publications for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Articles related to Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:

(show all 36)
# Title Authors PMID Year
1
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations. 6 57
23037936 2013
2
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 6 57
17357080 2007
3
Synovial lipomatosis (lipoma arborescens) affecting multiple joints in a patient with congenital short bowel syndrome. 57 6
12022328 2002
4
The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. 6 57
8644737 1996
5
Congenital short gut, malrotation, and dysmotility of the small bowel. 6 57
2123245 1990
6
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 57
18854860 2009
7
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. 57
16299064 2006
8
Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder. 57
9279759 1997
9
Congenital intestinal pseudo-obstruction associated with a giant platelet disorder. 57
1910094 1991
10
A genetic study of Hirschsprung disease. 57
2309705 1990
11
Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus. Familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy. 57
1008589 1976
12
Natal teeth, patent ductus arteriosus and intestinal pseudo-obstruction: a lethal syndrome in the newborn. 57
1269170 1976
13
Evaluating Mismatch Repair/Microsatellite Instability Status Using Cytology Effusion Specimens to Determine Eligibility for Immunotherapy. 61
33367660 2021
14
Evaluating Mismatch Repair/Microsatellite Instability Status Using Cytology Effusion Specimens to Determine Eligibility for Immunotherapy. 61
32223560 2020
15
Evaluation of the presence and distribution of leptomeningeal inflammation in SIDS/SUDI cases and comparison with a hospital-based cohort. 61
31270575 2019
16
The use of cytological material in melanoma for programmed death ligand 1 immunostaining. 61
30244524 2019
17
cancer of unknown primary: Ancillary testing of cytologic and small biopsy specimens in the era of targeted therapy. 61
30156769 2018
18
Utility of BRCA1-associated protein 1 immunoperoxidase stain to differentiate benign versus malignant mesothelial proliferations in cytologic specimens. 61
28205427 2017
19
Lung Carcinoma Predictive Biomarker Testing by Immunoperoxidase Stains in Cytology and Small Biopsy Specimens: Advantages and Limitations. 61
27588333 2016
20
Rare Earth Metal-Mediated Precision Polymerization of Vinylphosphonates and Conjugated Nitrogen-Containing Vinyl Monomers. 61
26718632 2016
21
Maternal tissue blood flow and oxygen saturation in pre-eclampsia and intrauterine growth restriction. 61
24833587 2014
22
Rare earth metal-mediated group-transfer polymerization: from defined polymer microstructures to high-precision nano-scaled objects. 61
23734723 2013
23
Liver lesions in children and adolescents: cytopathologic analysis and clinical correlates in 44 cases. 61
21309009 2012
24
Diagnostic issues with cytopathologic interpretation of lung neoplasms displaying high-grade basaloid or neuroendocrine morphology. 61
21319315 2011
25
Microstructured poly(2-oxazoline) bottle-brush brushes on nanocrystalline diamond. 61
20407707 2010
26
Cytopathologic analysis of paraspinal masses: a study of 59 cases with clinicoradiologic correlation. 61
16078252 2005
27
Exfoliative sputum cytology of cancers metastatic to the lung. 61
16078247 2005
28
Pineal gland lesions: a cytopathologic study of 20 specimens. 61
15662708 2005
29
Metastatic malignant melanoma in liver aspirate: cytomorphologic distinction from hepatocellular carcinoma. 61
15048959 2004
30
CD56 expression of neuroendocrine neoplasms on immunophenotyping by flow cytometry: a novel diagnostic approach to fine-needle aspiration biopsy. 61
12925986 2003
31
Oxidation processes and clogging in intermittent unsaturated infiltration. 61
14753529 2003
32
The effect of intraperitoneal 22-oxacalcitriol on secondary hyperparathyroidism in continuous ambulatory peritoneal dialysis patients (IPOX study). 61
14763068 2003
33
Prostatic adenocarcinoma metastases mimicking small cell carcinoma on fine-needle aspiration. 61
12203872 2002
34
Metastatic testicular Sertoli-cell tumor: cytopathologic findings on fine-needle aspiration. 61
9702492 1998
35
Expression of the pS2 gene in breast cancer--a comparison of pS2 protein radioimmunoassay and immunohistochemistry. 61
8265245 1993
36
c-erbB-2 amplification and overexpression in breast cancer: evaluation and comparison of Southern blot, slot blot, ELISA and immunohistochemistry. 61
8103591 1993

Variations for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

ClinVar genetic disease variations for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNA NM_001110556.2(FLNA):c.65_66AC[1] (p.Thr23fs) Microsatellite Pathogenic 11771 rs80338840 GRCh37: X:153599546-153599547
GRCh38: X:154371178-154371179
2 FLNA NM_001110556.2(FLNA):c.16_17TC[1] (p.Arg7fs) Microsatellite Pathogenic 488065 rs398122521 GRCh37: X:153599595-153599596
GRCh38: X:154371227-154371228
3 FLNA NM_001110556.2(FLNA):c.16_17TC[1] (p.Arg7fs) Microsatellite Pathogenic 488065 rs398122521 GRCh37: X:153599595-153599596
GRCh38: X:154371227-154371228
4 FLNA NM_001110556.2(FLNA):c.2280+389T>A SNV Pathogenic 488069 rs1557178535 GRCh37: X:153592001-153592001
GRCh38: X:154363633-154363633
5 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) SNV Uncertain significance 392335 GRCh37: X:153577858-153577858
GRCh38: X:154349490-154349490
6 FLNA NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) SNV Uncertain significance 465015 rs782275601 GRCh37: X:153580296-153580296
GRCh38: X:154351928-154351928
7 FLNA NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) SNV Uncertain significance 435203 rs781984274 GRCh37: X:153580593-153580593
GRCh38: X:154352225-154352225
8 FLNA NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) SNV Uncertain significance 93756 rs371677498 GRCh37: X:153588840-153588840
GRCh38: X:154360472-154360472
9 FLNA NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) SNV Uncertain significance 625948 rs1557177412 GRCh37: X:153587512-153587512
GRCh38: X:154359144-154359144
10 FLNA NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) SNV Uncertain significance 533577 rs782400832 GRCh37: X:153581143-153581143
GRCh38: X:154352775-154352775
11 FLNA NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) SNV Uncertain significance 211024 rs797045581 GRCh37: X:153580599-153580599
GRCh38: X:154352231-154352231
12 FLNA NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) SNV Uncertain significance 625951 rs1569551874 GRCh37: X:153596338-153596338
GRCh38: X:154367970-154367970
13 FLNA NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) SNV Uncertain significance 625950 rs1569551838 GRCh37: X:153594700-153594700
GRCh38: X:154366332-154366332
14 FLNA NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) SNV Uncertain significance 625949 rs1448428046 GRCh37: X:153591069-153591069
GRCh38: X:154362701-154362701
15 FLNA NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) SNV Uncertain significance 588552 rs782445995 GRCh37: X:153589909-153589909
GRCh38: X:154361541-154361541
16 FLNA NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) SNV Uncertain significance 213491 rs782447567 GRCh37: X:153596263-153596263
GRCh38: X:154367895-154367895
17 FLNA NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) SNV Uncertain significance 198133 rs192609440 GRCh37: X:153595186-153595186
GRCh38: X:154366818-154366818
18 FLNA NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) SNV Uncertain significance 432226 rs1297013254 GRCh37: X:153592416-153592416
GRCh38: X:154364048-154364048

Expression for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Search GEO for disease gene expression data for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked.

Pathways for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

GO Terms for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

Sources for Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....