MEND
MCID: MND023
MIFTS: 43

Mend Syndrome (MEND)

Categories: Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mend Syndrome

MalaCards integrated aliases for Mend Syndrome:

Name: Mend Syndrome 56 12 58 73 36 29 6
Male Ebp Disorder with Neurological Defects 12 58 73
Mend 56 73
Male Ebp Disorder with Neurologic Defects 56

Characteristics:

Orphanet epidemiological data:

58
mend syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Miscellaneous:
highly variable phenotype
phenotype is due to hypomorphic nonmosaic mutation in the ebp gene

Inheritance:
x-linked recessive


HPO:

31
mend syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Mend Syndrome

OMIM : 56 Male EBP disorder with neurologic defects is an X-linked recessive disorder representing a continuous phenotypic spectrum with variable manifestations associated with a defect in sterol biosynthesis. Features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. Not all patients show all features, and the severity is highly variable. Molecular studies indicate that affected males are hemizygous for a nonmosaic hypomorphic EBP allele. Carrier females are generally clinically asymptomatic, but may show biochemical abnormalities (summary by Arnold et al., 2012 and Barboza-Cerda et al., 2014). (300960)

MalaCards based summary : Mend Syndrome, also known as male ebp disorder with neurological defects, is related to erythrokeratodermia variabilis et progressiva 1 and leukodystrophy, hypomyelinating, 15. An important gene associated with Mend Syndrome is EBP (EBP Cholestenol Delta-Isomerase), and among its related pathways/superpathways is Steroid biosynthesis. The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and brain, and related phenotypes are elevated 8-dehydrocholesterol and elevated 8(9)-cholestenol

Disease Ontology : 12 A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has material basis in hemizygous mutation in EBP on chromosome Xp11.23.

KEGG : 36 MEND syndrome (male EBP disorder with neurological defects) is an X-linked recessive condition in males with a phenotype remarkable for Dandy-Walker like congenital brain malformation, cataracts, collodion skin and cryptorchidism. Additional findings of hydrocephalus, dysplasia of the corpus callosum, cardiovascular, craniofacial and skeletal anomalies were regularly seen in patients. MEND syndrome is caused by EBP mutations. EBP is an integral membrane protein located mainly in the endoplasmic reticulum, which has dual functions as an enzyme converting cholestenol into lathosterol and as a high-affinity receptor for anti-ischaemic drugs.

UniProtKB/Swiss-Prot : 73 MEND syndrome: An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.

Related Diseases for Mend Syndrome

Diseases related to Mend Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 erythrokeratodermia variabilis et progressiva 1 12.3
2 leukodystrophy, hypomyelinating, 15 11.3
3 waardenburg's syndrome 11.3
4 disease of mental health 10.2
5 erythrokeratoderma 10.2
6 xeroderma pigmentosum, variant type 10.2
7 heart disease 10.2
8 epidermolysis bullosa 10.2
9 cardiogenic shock 10.2
10 x-linked chondrodysplasia punctata 2 10.2
11 hair whorl 10.1
12 osteoporosis 10.1
13 pulmonary disease, chronic obstructive 10.1
14 pitt-hopkins syndrome 10.1
15 bone mineral density quantitative trait locus 8 10.1
16 bone mineral density quantitative trait locus 15 10.1
17 epidermolysis bullosa dystrophica 10.1
18 subacute delirium 10.1
19 alzheimer disease 9.9
20 atrial standstill 1 9.9
21 gastroesophageal reflux 9.9
22 hepatocellular carcinoma 9.9
23 pheochromocytoma 9.9
24 polykaryocytosis inducer 9.9
25 pulmonary hypertension, primary, 1 9.9
26 down syndrome 9.9
27 alkaptonuria 9.9
28 ocular motor apraxia 9.9
29 xeroderma pigmentosum, complementation group c 9.9
30 body mass index quantitative trait locus 11 9.9
31 muscular dystrophy, duchenne type 9.9
32 stroke, ischemic 9.9
33 yemenite deaf-blind hypopigmentation syndrome 9.9
34 body mass index quantitative trait locus 9 9.9
35 body mass index quantitative trait locus 8 9.9
36 coronary heart disease 1 9.9
37 body mass index quantitative trait locus 4 9.9
38 body mass index quantitative trait locus 10 9.9
39 body mass index quantitative trait locus 7 9.9
40 myocardial infarction 9.9
41 human immunodeficiency virus type 1 9.9
42 body mass index quantitative trait locus 12 9.9
43 body mass index quantitative trait locus 14 9.9
44 body mass index quantitative trait locus 18 9.9
45 erythrokeratodermia variabilis et progressiva 2 9.9
46 erythrokeratodermia variabilis et progressiva 5 9.9
47 body mass index quantitative trait locus 19 9.9
48 body mass index quantitative trait locus 20 9.9
49 inflammatory bowel disease 9.9
50 adrenal gland pheochromocytoma 9.9

Graphical network of the top 20 diseases related to Mend Syndrome:



Diseases related to Mend Syndrome

Symptoms & Phenotypes for Mend Syndrome

Human phenotypes related to Mend Syndrome:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated 8-dehydrocholesterol 58 31 hallmark (90%) Very frequent (99-80%) HP:0003462
2 elevated 8(9)-cholestenol 58 31 hallmark (90%) Very frequent (99-80%) HP:0003465
3 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
4 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
8 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 ichthyosis 58 31 frequent (33%) Frequent (79-30%) HP:0008064
11 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
12 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
13 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
14 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
15 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
16 thickened nuchal skin fold 58 31 frequent (33%) Frequent (79-30%) HP:0000474
17 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
18 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
19 dandy-walker malformation 58 31 frequent (33%) Frequent (79-30%) HP:0001305
20 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
21 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
22 hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001161
23 sacral dimple 58 31 frequent (33%) Frequent (79-30%) HP:0000960
24 abnormal social behavior 58 31 frequent (33%) Frequent (79-30%) HP:0012433
25 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
26 wide anterior fontanel 58 31 frequent (33%) Frequent (79-30%) HP:0000260
27 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
28 overlapping fingers 58 31 frequent (33%) Frequent (79-30%) HP:0010557
29 aortic valve stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001650
30 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
31 2-3 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0004691
32 long neck 58 31 frequent (33%) Frequent (79-30%) HP:0000472
33 long fingers 58 31 frequent (33%) Frequent (79-30%) HP:0100807
34 spotty hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0005590
35 limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0002509
36 overlapping toe 58 31 frequent (33%) Frequent (79-30%) HP:0001845
37 broad hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010055
38 abnormal auditory evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0006958
39 asymmetry of the mouth 58 31 frequent (33%) Frequent (79-30%) HP:0009941
40 seizure 31 frequent (33%) HP:0001250
41 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
42 abnormal heart morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001627
43 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
44 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
45 seizures 58 Frequent (79-30%)
46 hypertonia 31 HP:0001276
47 microretrognathia 31 HP:0000308
48 polydactyly 31 HP:0010442
49 abnormality of the nasal bridge 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
hydrocephalus
dandy-walker malformation
hypoplasia or agenesis of the corpus callosum
hypertonia of the extremities
more
Skin Nails Hair Skin:
ichthyosis
collodion skin changes
pigmentary abnormalities

Head And Neck Ears:
low-set ears

Skeletal Hands:
overlapping fingers
long fingers
polydactyly
digital anomalies

Skeletal Feet:
2-3 toe syndactyly
overlapping toes

Head And Neck Mouth:
high-arched palate

Head And Neck Nose:
high nasal bridge
short nasal root

Skeletal Spine:
scoliosis kyphosis

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Face:
microretrognathia
midface hypoplasia

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggressive outbursts
behavioral difficulties

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
cataracts

Cardiovascular Heart:
aortic stenosis
cardiac malformations

Laboratory Abnormalities:
increased plasma 8-dihydrocholesterol and 8(9)-cholestenol

Clinical features from OMIM:

300960

Drugs & Therapeutics for Mend Syndrome

Drugs for Mend Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
3
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
4 Phosphodiesterase Inhibitors Phase 4
5 Phosphodiesterase 5 Inhibitors Phase 4
6 Citrate Phase 4
7 Vasodilator Agents Phase 4
8 Sildenafil Citrate Phase 4 171599-83-0
9 Antioxidants Phase 4
10 Protective Agents Phase 4
11
Olaparib Approved Phase 3 763113-22-0 23725625
12
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
13
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 3 54-47-7 1051
14
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
15 Trace Elements Phase 3
16 Vitamins Phase 3
17 Vitamin B 6 Phase 3
18 Vitamin B Complex Phase 3
19 Folate Phase 3
20 Nutrients Phase 3
21 Micronutrients Phase 3
22 Vitamin B9 Phase 3
23 Poly(ADP-ribose) Polymerase Inhibitors Phase 3
24
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
25
Darbepoetin alfa Approved, Investigational Phase 2 11096-26-7, 209810-58-2
26 Hematinics Phase 2
27
tannic acid Approved 1401-55-4
28
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
29 Complement System Proteins

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Oxepa in Multiple Trauma: Prospective, Randomized, Comparative, Double-blind, Controlled Clinical Study Unknown status NCT01099501 Phase 4
2 The Use and Efficacy of Sildenafil in Diabetic Men With Erectile Dysfunction: the Impact on Endothelial Function, a Pilot Feasibility Study Completed NCT00199563 Phase 4 Viagra
3 Melatonin, Nightshift Work and DNA Damage (MEND) Study Not yet recruiting NCT03945955 Phase 4
4 MEND-CABG II: A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Cardioprotective Effects of MC-1 in Patients Undergoing High-Risk CABG Surgery Completed NCT00402506 Phase 3 (MC-1) Pyridoxal 5'-phosphate
5 Phase III Randomised, Double Blind, Placebo Controlled Study of Olaparib Maintenance Monotherapy in Platinum Sensitive Relapsed BRCA Mutated Ovarian Cancer Patients With a Complete or Partial Response Following Platinum Based Chemotherapy Active, not recruiting NCT01874353 Phase 3 Olaparib 300mg tablets;Placebo to match olaparib 300mg
6 Mild Encephalopathy in the Newborn Treated With Darbepoetin (MEND) Recruiting NCT03071861 Phase 2 Darbepoetin Alfa;Normal Saline
7 MEND Childhood Obesity Treatment Programme: An RCT to Improve Body Composition and Cardiovascular Health in Overweight and Obese Children. Unknown status NCT00974116
8 Systems Approach to Obesity Prevention in Underserved Children in Texas (Randomized Controlled Trial) Completed NCT02724943
9 Childhood Obesity Research Demonstration Project 2.0 (CORD 2.0) Completed NCT03012126
10 MEND 2: Making Treatment Decisions Using Genomic Testing Completed NCT03183050
11 Salud y Vida 2.0: Enhancing Integrated Behavioral Health for Individuals With Diabetes in the Rio Grande Valley Completed NCT04035395
12 Efficacy of Early Short-term Training on Thrombogenesis in Patients Following Coronary Bypass Surgery Completed NCT02144480

Search NIH Clinical Center for Mend Syndrome

Genetic Tests for Mend Syndrome

Genetic tests related to Mend Syndrome:

# Genetic test Affiliating Genes
1 Mend Syndrome 29 EBP

Anatomical Context for Mend Syndrome

MalaCards organs/tissues related to Mend Syndrome:

40
Heart, Skin, Brain, Endothelial, Bone, Liver, Testes

Publications for Mend Syndrome

Articles related to Mend Syndrome:

(show top 50) (show all 523)
# Title Authors PMID Year
1
An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. 56 6 61
24459067 2014
2
A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2. 6 56
24700572 2014
3
A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21. 6 56
23307567 2013
4
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. 56 6
20949533 2010
5
Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome. 6 56
12966533 2003
6
Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. 6 56
12503101 2003
7
Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects). 61 56
22229330 2012
8
Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome. 56
15368506 2004
9
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. 6
11038443 2000
10
Building Patient-Physician Trust: A Medical Student Perspective. 61
32079958 2020
11
Helicobacter pylori antibiotic eradication coupled with a chemically defined diet in INS-GAS mice triggers dysbiosis and vitamin K deficiency resulting in gastric hemorrhage. 61
31955643 2020
12
Phase-Separated Multienzyme Biosynthesis. 61
32343131 2020
13
Mending Disconnects in Cancer Care: Setting an Agenda for Research, Practice, and Policy. 61
32543897 2020
14
Preemptive Homology-Directed DNA Repair Fosters Complex Genomic Rearrangements in Hepatocellular Carcinoma. 61
32450552 2020
15
Re-balancing cellular energy substrate metabolism to mend the failing heart. 61
31678200 2020
16
Can We Mend the Broken Clock by Timing Antihypertensive Therapy Sensibly? 61
32393464 2020
17
Question Prompt List to Support Patient-Provider Communication in the Use of the 21-Gene Recurrence Test: Feasibility, Acceptability, and Outcomes. 61
32463763 2020
18
Improved Stability of siRNA-Loaded Lipid Nanoparticles Prepared with a PEG-Monoacyl Fatty Acid Facilitates Ligand-Mediated siRNA Delivery. 61
32091909 2020
19
Involvement of Caveolin-1-mediated transcytosis in the intratumoral accumulation of liposomes. 61
32087973 2020
20
Designing Novel Therapies to Mend Broken Hearts: ATF6 and Cardiac Proteostasis. 61
32138230 2020
21
Type C mucosa in pouch surveillance: make, do and mend rather than start from scratch? 61
32157305 2020
22
Allosteric regulation of menaquinone (vitamin K2) biosynthesis in the human pathogen Mycobacterium tuberculosis. 61
32029475 2020
23
Self-control of vitamin K2 production captured in the crystal. 61
32198187 2020
24
Early life malnutrition is a problem that may be fixed by improving later-life lifestyle: never too late to mend. 61
31732658 2020
25
A nanocarrier for the mitochondrial delivery of nucleic acids to cardiomyocytes. 61
31595823 2020
26
How to mend a broken heart: A case of right ventricular stab injury. 61
32001915 2020
27
After Brexit, a long road to mend ties with Europe. 61
32001632 2020
28
Targeting AngII/AT1R signaling pathway by perindopril inhibits ongoing liver fibrosis in rat. 61
31348596 2019
29
Treg cells mend a broken heart. 61
31745341 2019
30
Mutation of the Transcriptional Regulator YtoI Rescues Listeria monocytogenes Mutants Deficient in the Essential Shared Metabolite 1,4-Dihydroxy-2-Naphthoate (DHNA). 61
31685546 2019
31
[The mechanism and role of autologous peritoneum transplantation to enterocystoplasty in porcine model]. 61
31826588 2019
32
[An animal model of bladder reconstruction by autologous peritoneum transplantation]. 61
31694135 2019
33
Lymphatic vessels help mend broken hearts. 61
31709981 2019
34
Data sharing for clinical utility. 61
31645349 2019
35
Innovative nanotechnologies for enhancing nucleic acids/gene therapy: Controlling intracellular trafficking to targeted biodistribution. 61
31306827 2019
36
'Homemade': Building, mending, and coordinating a care network. 61
31394398 2019
37
Expressional regulation of gonadotropin receptor genes and androgen receptor genes in the eel testis. 61
31009604 2019
38
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes. 61
31397093 2019
39
The silencing of indoleamine 2,3-dioxygenase 1 (IDO1) in dendritic cells by siRNA-loaded lipid nanoparticles enhances cell-based cancer immunotherapy. 61
31383907 2019
40
Dose-dependent neuroprotective effect of oriental phyto-derived glycyrrhizin on experimental neuroterminal norepinephrine depletion in a rat brain model. 61
31150628 2019
41
A Cellular Insulator against CLE45 Peptide Signaling. 61
31327718 2019
42
Extracellular regulation of airway smooth muscle contraction. 61
31042549 2019
43
Alteration of the Route to Menaquinone towards Isochorismate-Derived Metabolites. 61
30866142 2019
44
Collaborative Molecular Epidemiology Study of Metabolic Dysregulation, DNA Methylation, and Breast Cancer Risk Among Nigerian Women: MEND Study Objectives and Design. 61
31194608 2019
45
Shieldin - the protector of DNA ends. 61
30948458 2019
46
A broken heart can mend. 61
30886430 2019
47
DNA Damage Stress: Cui Prodest? 61
30832234 2019
48
Longitudinal Model Predicting Self-Concept in Pediatric Chronic Illness. 61
29663349 2019
49
Behavior Modification of Diet and Parent Feeding Practices in a Community- Vs Primary Care-Centered Intervention for Childhood Obesity. 61
30139562 2019
50
Magnetic Endoglin Aptamer Nanoprobe for Targeted Diagnosis of Solid Tumor. 61
30596557 2019

Variations for Mend Syndrome

ClinVar genetic disease variations for Mend Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EBP NM_006579.3(EBP):c.53T>C (p.Leu18Pro)SNV Pathogenic 11493 rs104894795 X:48382212-48382212 X:48523824-48523824
2 EBP NM_006579.3(EBP):c.141G>T (p.Trp47Cys)SNV Pathogenic 158530 rs587783599 X:48382300-48382300 X:48523912-48523912
3 EBP NM_006579.3(EBP):c.224T>A (p.Ile75Asn)SNV Pathogenic 209039 rs797045153 X:48382383-48382383 X:48523995-48523995
4 EBP NM_006579.3(EBP):c.139T>C (p.Trp47Arg)SNV Pathogenic 209040 rs878854359 X:48382298-48382298 X:48523910-48523910

UniProtKB/Swiss-Prot genetic disease variations for Mend Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 EBP p.Leu18Pro VAR_074633 rs104894795
2 EBP p.Trp47Cys VAR_074634 rs587783599
3 EBP p.Trp47Arg VAR_074635 rs878854359
4 EBP p.Ile75Asn VAR_074636 rs797045153

Expression for Mend Syndrome

Search GEO for disease gene expression data for Mend Syndrome.

Pathways for Mend Syndrome

Pathways related to Mend Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

GO Terms for Mend Syndrome

Sources for Mend Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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