HSAS
MCID: HYD019
MIFTS: 47

Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius (HSAS)

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

Aliases & Classifications for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

MalaCards integrated aliases for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

Name: Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 56 52 29
Aqueductal Stenosis 56 74 54 6 71
X-Linked Hydrocephalus Syndrome 71
Aqueductal Stenosis, X-Linked 52
Hydrocephalus, X-Linked 52
Hsas1 52
Hsas 52
Hycx 52
Xlas 52

Characteristics:

HPO:

31
hydrocephalus due to congenital stenosis of aqueduct of sylvius:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 56 236635
MedGen 41 C0265216
UMLS 71 C0265216 C2936786

Summaries for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

NIH Rare Diseases : 52 Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome , which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity . HSAS, like all forms of L1 syndrome , is caused by changes (mutations ) in the L1CAM gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius, also known as aqueductal stenosis, is related to hydrocephalus and guillain-barre syndrome, and has symptoms including muscle spasticity An important gene associated with Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius is L1CAM (L1 Cell Adhesion Molecule), and among its related pathways/superpathways are Neuroscience and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Acetazolamide and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and thyroid, and related phenotypes are macrocephaly and agenesis of corpus callosum

Wikipedia : 74 Aqueductal stenosis is a narrowing of the aqueduct of Sylvius which blocks the flow of cerebrospinal... more...

More information from OMIM: 236635

Related Diseases for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

Diseases in the Hydrocephalus family:

Hydrocephalus, Autosomal Dominant Hydrocephalus, Congenital, 1
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius Congenital Hydrocephalus
Hydrocephalus Autosomal Recessive

Diseases related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 529)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus 30.4 NES MBP L1CAM
2 guillain-barre syndrome 29.0 TH MBP
3 neuroblastoma 28.9 TH NES L1CAM
4 agammaglobulinemia, x-linked 12.5
5 enamel hypoplasia, cataracts, and aqueductal stenosis 12.5
6 headache associated with sexual activity 11.9
7 congenital hydrocephalus 11.7
8 agammaglobulinemia 11.7
9 mohr-tranebjaerg syndrome 11.6
10 agammaglobulinemia 1, autosomal recessive 11.5
11 vasculopathy, retinal, with cerebral leukodystrophy 11.5
12 orofaciodigital syndrome 12 11.4
13 analbuminemia 11.2
14 obstructive hydrocephalus 10.7
15 immune deficiency disease 10.6
16 hepatocellular carcinoma 10.5
17 lung cancer 10.5
18 neurofibromatosis, type iv, of riccardi 10.5
19 hydrocephalus, congenital, 1 10.5
20 gastric cancer 10.5
21 intracranial hypertension 10.5
22 squamous cell carcinoma 10.5
23 colorectal cancer 10.5
24 oral squamous cell carcinoma 10.4
25 mumps 10.4
26 normal pressure hydrocephalus 10.4
27 communicating hydrocephalus 10.4
28 bacterial infectious disease 10.4
29 bladder cancer 10.4
30 small cell cancer of the lung 10.4
31 headache 10.4
32 osteogenic sarcoma 10.4
33 cervical cancer 10.4
34 lung cancer susceptibility 3 10.3
35 chiari malformation 10.3
36 common variable immunodeficiency 10.3
37 adenocarcinoma 10.3
38 x-linked alport syndrome 10.3
39 alport syndrome 10.3
40 neutropenia 10.3
41 isolated agammaglobulinemia 10.3
42 glioblastoma multiforme 10.3
43 neural tube defects 10.3
44 pancreatic cancer 10.2
45 ovarian cancer 10.2
46 chiari malformation type ii 10.2
47 toxoplasmosis 10.2
48 encephalocele 10.2
49 tremor 10.2
50 rhombencephalosynapsis 10.2

Graphical network of the top 20 diseases related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:



Diseases related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

Symptoms & Phenotypes for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

Human phenotypes related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 agenesis of corpus callosum 31 HP:0001274
3 intellectual disability 31 HP:0001249
4 spasticity 31 HP:0001257
5 hydrocephalus 31 HP:0000238
6 aqueductal stenosis 31 HP:0002410
7 adducted thumb 31 HP:0001181
8 absent septum pellucidum 31 HP:0001331
9 spastic paraplegia 31 HP:0001258
10 corticospinal tract hypoplasia 31 HP:0007016
11 flexion contracture of thumb 31 HP:0009600

Clinical features from OMIM:

236635

UMLS symptoms related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:


muscle spasticity

Drugs & Therapeutics for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

Drugs for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 3 59-66-5 1986
2 Natriuretic Agents Phase 3
3 Anticonvulsants Phase 3
4 Carbonic Anhydrase Inhibitors Phase 3
5 diuretics Phase 3
6
Enalaprilat Approved 76420-72-9 6917719
7
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
8
Sulfadoxine Approved, Investigational 2447-57-6 17134
9
Altretamine Approved 645-05-6 2123
10
Pyrimethamine Approved, Investigational, Vet_approved 58-14-0 4993
11
Spironolactone Approved 1952-01-7, 52-01-7 5833
12
Ramipril Approved 87333-19-5 5362129
13 Vaccines
14 Immunologic Factors
15 Fanasil, pyrimethamine drug combination
16 HIV Protease Inhibitors
17
protease inhibitors
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors
19 Hormone Antagonists
20 Mineralocorticoids
21 Mineralocorticoid Receptor Antagonists
22 Angiotensin-Converting Enzyme Inhibitors
23 Diuretics, Potassium Sparing
24 Hormones

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Normal Pressure Hydrocephalus Treatment by Acetazolamide Terminated NCT02163330 Phase 3 Acetazolamide;sugar pill
2 International Infant Hydrocephalus Study: A Multicentre, Prospective Study Completed NCT00652470 Phase 2
3 Assessment of Family Planning and Immunization Service Integration in Malawi Completed NCT03404284
4 The Added Value of a Mobile Application of Community Case Management on Under-5 Referral, Re-consultation and Hospitalization Rates in Malawi: a Pragmatic Stepped-wedge Cluster Randomized Trial Completed NCT02763345
5 Collagen Type 4-related Nephropathies: From Alport to Thin Membrane Nephropathy. A Series of Cases Treated With Angiotensin Converting Enzyme Inhibitor Completed NCT01465126
6 Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility Study Completed NCT01696253
7 Assessing the Effectiveness of Community Delivery of Intermittent Preventive Treatment in Pregnancy (IPTp) in Malawi Recruiting NCT03376217
8 Three and Five Year Follow-up of Patients Reported Symptoms, Function and Quality of Life in Patients With Longstanding Hip and Groin Pain Referred to Tertiary Care. A Longitudinal Study Recruiting NCT03490071
9 European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome: Current and Novel Therapies Recruiting NCT02378805 ACE-inhibitor;AT1-inhibitor;HMG-Coenzyme inhibitor (statin);Spironolactone;Paricalcitol
10 Improving Perinatal Outcomes Using Conditional and Targeted Transfers Recruiting NCT04090762
11 Comparing Patient-Centered Outcomes for Adults and Children With Asthma in High-Deductible Health Plans With and Without Preventive Drug Lists Active, not recruiting NCT03175536
12 Coupling the Surveillance of Mobility Impaired Adults With Large-Scale Assistive Device Donations and the Suitability of the Long-Term Use of Lofstrand (Forearm) Versus Axillary (Underarm) Crutches Among Mobility Impaired Adults in the Northern Region of Malawi Not yet recruiting NCT04074252

Search NIH Clinical Center for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

Genetic Tests for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

Genetic tests related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

# Genetic test Affiliating Genes
1 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 29

Anatomical Context for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

MalaCards organs/tissues related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

40
Brain, Lung, Thyroid, Bone, T Cells, Heart, Liver

Publications for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

Articles related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

(show top 50) (show all 732)
# Title Authors PMID Year
1
Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius. 61 56
10589063 1999
2
Novel L1CAM splice site mutation in a young male with L1 syndrome. 6
21271669 2011
3
Expanding the phenotypic spectrum of L1CAM-associated disease. 6
16650080 2006
4
L1 Syndrome 6
20301657 2004
5
Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling. 56
10378395 1999
6
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). 6
9643285 1998
7
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. 6
8929944 1996
8
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. 6
7881431 1994
9
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 6
7920659 1994
10
A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS) 6
8401576 1993
11
A duplication in the L1CAM gene associated with X-linked hydrocephalus. 6
8401593 1993
12
Autosomal recessive congenital stenosis of aqueduct of Sylvius. 56
8471217 1993
13
Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. 6
1303258 1992
14
[Congenital stenosis of the aqueduct of Sylvius transmitted in an autosomal recessive mode (5 cases in 2 families)]. 56
3498797 1987
15
[Autosomal recessive inheritance of hydrocephalus with stenosis of the duct of Sylvius]. 56
7328410 1981
16
Sex-linked hydrocephalus. Report of a family with 15 affected members. 6
13889294 1961
17
Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus. 6
18136715 1949
18
Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. 54 61
17318848 2007
19
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 54 61
11857550 2002
20
Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases. 54 61
11787037 2001
21
Overexpression of nestin and vimentin in the ependyma of spinal cords from hydrocephalic infants. 54 61
9061685 1997
22
Overexpression of nestin and vimentin in ependymal cells in hydrocephalus. 54 61
8811130 1996
23
Neuropathology and immunohistochemistry of the brain-stem in neonates with congenital hydrocephalus: comparative studies between aqueductal stenosis and Arnold-Chiari malformation. 54 61
7529958 1994
24
[Pathology of congenital aqueductal stenosis and posthemorrhagic hydrocephalus]. 54 61
8185973 1994
25
Towards zero infection for ventriculoperitoneal shunt insertion in resource-limited settings: a multicenter prospective cohort study. 61
31455997 2020
26
Chronic Hydrocephalus Following Mumps Encephalitis: Neuropathological Correlates and Review. 61
31794012 2020
27
Cranial and ventricular size following shunting or endoscopic third ventriculostomy (ETV) in infants with aqueductal stenosis: further insights from the International Infant Hydrocephalus Study (IIHS). 61
31965292 2020
28
A case of developing obstructive hydrocephalus following aqueductal stenosis caused by developmental venous anomalies. 61
31907600 2020
29
Fetal aqueductal stenosis: Prenatal diagnosis and intervention. 61
31306500 2020
30
Third ventricle floor bowing: a useful measurement to predict endoscopic third ventriculostomy success in infantile hydrocephalus. 61
31792687 2020
31
Hydrocephalus due to aqueductal stenosis presenting with acute bilateral ptosis: case report. 61
31845609 2019
32
Endoscopic third ventriculostomy in children with third ventricular pressure gradient and open ventricular outlets on MRI. 61
31654263 2019
33
Cerebrospinal fluid alterations following endoscopic third ventriculostomy with choroid plexus cauterization: a retrospective laboratory analysis of two tertiary care centers. 61
31781913 2019
34
Prediction of endoscopic third ventriculostomy (ETV) success with preoperative third ventricle floor bowing (TVFB): a supplement to ETV success score. 61
31691874 2019
35
Developmental venous anomaly as a rare cause of obstructive hydrocephalus. 61
26439454 2019
36
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. 61
31393094 2019
37
Acute Hydrocephalus Resulting from Neuromyelitis Optica: A Case Report and Review of the Literature. 61
31200081 2019
38
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. 61
31294511 2019
39
Aqueductal Developmental Venous Anomaly Presenting with Mimic Symptoms of Idiopathic Normal Pressure Hydrocephalus in an Elderly Patient: A Case Report. 61
31417837 2019
40
Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center. 61
31213636 2019
41
Ossified Occipital Pseudomeningocele following Ventriculoperitoneal Shunt Malfunction. 61
31595131 2019
42
Long-Term Reliability of Neuroendoscopic Aqueductoplasty in Idiopathic Aqueductal Stenosis-Related Hydrocephalus. 61
29878198 2019
43
A Case of Spontaneous Third Ventriculocisternostomy to the Interpeduncular Fossa. 61
30851465 2019
44
Economic benefit of neurosurgical intervention for infant hydrocephalus in Haiti. 61
31277055 2019
45
Is endoscopic third ventriculostomy safe and efficient in the treatment of obstructive chronic hydrocephalus in adults? A prospective clinical and MRI study. 61
31069530 2019
46
Progression of Low-Grade Glioma During Pregnancy With Subsequent Regression Postpartum Without Treatment-A Case Report. 61
29788426 2019
47
Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis. 61
30610483 2019
48
Predictors of success for combined endoscopic third ventriculostomy and choroid plexus cauterization in a North American setting: a Hydrocephalus Clinical Research Network study. 61
31151098 2019
49
Predictors of endoscopic third ventriculostomy ostomy status in patients who experience failure of endoscopic third ventriculostomy with choroid plexus cauterization. 61
31003223 2019
50
Localization, Occurrence, and CSF Changes of SP-G, a New Surface Active Protein with Assumable Immunoregulatory Functions in the CNS. 61
30032421 2019

Variations for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

ClinVar genetic disease variations for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 L1CAM NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)SNV Pathogenic 211339 rs797045673 X:153132257-153132257 X:153866802-153866802
2 L1CAM NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)SNV Pathogenic 226120 rs875989884 X:153132155-153132155 X:153866700-153866700
3 L1CAM NM_001278116.2(L1CAM):c.2432-19A>CSNV Pathogenic 9985 rs879253713 X:153131293-153131293 X:153865838-153865838
4 L1CAM NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr)SNV Pathogenic 9986 rs137852518 X:153135858-153135858 X:153870403-153870403
5 L1CAM L1CAM, 1.3-KB DUPduplication Pathogenic 9987
6 L1CAM NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)SNV Pathogenic 9990 rs137852520 X:153134321-153134321 X:153868866-153868866
7 L1CAM NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln)SNV Pathogenic 9991 rs137852521 X:153136388-153136388 X:153870933-153870933
8 L1CAM NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)SNV Pathogenic 9993 rs137852522 X:153128311-153128311 X:153862856-153862856
9 L1CAM NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)SNV Pathogenic 10001 rs137852526 X:153135930-153135930 X:153870475-153870475
10 L1CAM NM_001278116.2(L1CAM):c.3458-1G>CSNV Pathogenic 29986 rs879253724 X:153129005-153129005 X:153863550-153863550
11 L1CAM NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs)duplication Pathogenic 804112 X:153131265-153131266 X:153865810-153865811
12 L1CAM NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile)SNV Likely pathogenic 804113 X:153141289-153141289 X:153875834-153875834
13 L1CAM NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly)SNV Likely pathogenic 279601 rs886041102 X:153133845-153133845 X:153868390-153868390
14 L1CAM NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)SNV Likely pathogenic 198728 rs797044787 X:153135578-153135578 X:153870123-153870123
15 L1CAM NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)SNV Likely pathogenic 689728 X:153136335-153136335 X:153870880-153870880
16 MLH1 NM_000249.3(MLH1):c.191A>G (p.Asn64Ser)SNV Conflicting interpretations of pathogenicity 89947 rs63750952 3:37038184-37038184 3:36996693-36996693
17 46;XX;inv(2)(p11q13)dninversion Uncertain significance 267797
18 L1CAM NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr)SNV Uncertain significance 432023 rs1557092782 X:153135945-153135945 X:153870490-153870490
19 PIK3R2 NM_005027.4(PIK3R2):c.2093A>C (p.His698Pro)SNV Uncertain significance 492997 rs1555815294 19:18280010-18280010 19:18169200-18169200
20 L1CAM NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser)SNV Uncertain significance 562010 rs1569544754 X:153133890-153133890 X:153868435-153868435
21 L1CAM NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCGinsertion Likely benign 804117 X:153151423-153151424 X:153885969-153885970
22 L1CAM NM_001278116.2(L1CAM):c.-109+1811dupduplication Benign 804114 X:153884253-153884254
23 L1CAM NM_001278116.2(L1CAM):c.-109+238_-109+239insGGinsertion Benign 804115 X:153151280-153151281 X:153885826-153885827
24 L1CAM NM_001278116.2(L1CAM):c.-109+234deldeletion Benign 804116 X:153151285-153151285 X:153885831-153885831

Copy number variations for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 260206 X 146900000 154913754 Copy number L1CAM Aqueductal stenosis

Expression for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

Search GEO for disease gene expression data for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius.

Pathways for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

Pathways related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.33 TH MBP L1CAM
2 10.85 TH NES

GO Terms for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

Cellular components related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 8.8 TH MBP L1CAM

Biological processes related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.96 TH MBP
2 central nervous system development GO:0007417 8.62 NES MBP

Molecular functions related to Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 8.62 TH L1CAM

Sources for Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius

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