RBS
MCID: RBR001
MIFTS: 65

Roberts Syndrome (RBS)

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

Aliases & Classifications for Roberts Syndrome

MalaCards integrated aliases for Roberts Syndrome:

Name: Roberts Syndrome 56 12 74 24 52 25 58 73 13 43 15
Roberts-Sc Phocomelia Syndrome 24 52 25 58 29 6 71
Pseudothalidomide Syndrome 24 52 25 58
Rbs 56 52 25 73
Long Bone Deficiencies Associated with Cleft Lip-Palate 56 12 52
Hypomelia Hypotrichosis Facial Hemangioma Syndrome 52 25
Tetraphocomelia-Cleft Palate Syndrome 52 25
Sc Pseudothalidomide Syndrome 25 58
Appelt-Gerken-Lenz Syndrome 52 25
Sc Phocomelia Syndrome 52 25
Roberts Tetraphocomelia Syndrome 52
Roberts Syndrome/sc Phocomelia 52
Sc-Phocomelia Syndrome 24
Hemoglobin Sc Disease 71
Pseudothalidomide 24
Syndrome, Roberts 39
Sc Phocomelia 58
Sc Syndrome 25
Roberts-Sc 24
Sc Disease 54
Sc 17

Characteristics:

Orphanet epidemiological data:

58
roberts syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

OMIM:

56
Miscellaneous:
polyhydramnios
presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death
likely allelic to sc phocomelia syndrome

Inheritance:
autosomal recessive


HPO:

31
roberts syndrome:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Roberts Syndrome

Genetics Home Reference : 25 Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in about half of all people with Roberts syndrome. Children with Roberts syndrome are born with abnormalities of all four limbs. They have shortened arm and leg bones (hypomelia), particularly the bones in their forearms and lower legs. In severe cases, the limbs may be so short that the hands and feet are located very close to the body (phocomelia). People with Roberts syndrome may also have abnormal or missing fingers and toes, and joint deformities (contractures) commonly occur at the elbows and knees. The limb abnormalities are very similar on the right and left sides of the body, but arms are usually more severely affected than legs. Individuals with Roberts syndrome typically have numerous facial abnormalities, including an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (cleft palate), a small chin (micrognathia), ear abnormalities, wide-set eyes (hypertelorism), outer corners of the eyes that point downward (down-slanting palpebral fissures), small nostrils, and a beaked nose. They may have a small head size (microcephaly) or clouding of the clear front covering of the eyes (corneal opacities). In severe cases affected individuals have a sac-like protrusion of the brain (encephalocele) at the front of their head. In addition, people with Roberts syndrome may have heart, kidney, and genital abnormalities. Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth. Mildly affected individuals may live into adulthood. A condition called SC phocomelia syndrome was originally thought to be distinct from Roberts syndrome; however, it is now considered to be a mild variant. "SC" represents the first letters of the surnames of the two families first diagnosed with this disorder.

MalaCards based summary : Roberts Syndrome, also known as roberts-sc phocomelia syndrome, is related to warsaw breakage syndrome and cornelia de lange syndrome 1, and has symptoms including seizures An important gene associated with Roberts Syndrome is ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2), and among its related pathways/superpathways are Signaling by Rho GTPases and Mitotic Metaphase and Anaphase. The drugs Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart, and related phenotypes are malar flattening and hypertelorism

NIH Rare Diseases : 52 Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia). They may also have phocomelia (in severe cases); abnormal or missing fingers and toes; joint deformities (contractures ); and numerous facial abnormalities including cleft lip with or without cleft palate ; micrognathia ; ear abnormalities; hypertelorism ; down-slanting palpebral fissures ; small nostrils; and a beaked nose. Microcephaly , intellectual disability , and heart, kidney or genital abnormalities may also be present. Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth, while mildly affected individuals may live into adulthood. It is caused by mutations in the ESCO2 gene and is inherited in an autosomal recessive pattern.

OMIM : 56 Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010). (268300)

UniProtKB/Swiss-Prot : 73 Roberts syndrome: Rare autosomal recessive disorder characterized by pre- and postnatal growth retardation, microcephaly, bilateral cleft lip and palate, and mesomelic symmetric limb reduction. Severely affected infants may be stillborn or die shortly after birth. RBS chromosomes have a lack of cohesion involving the heterochromatic C-banding regions around centromeres and the distal portion of the long arm of the Y chromosome (known as premature centromere separation, heterochromatin repulsion or puffing, or RS effect).

Wikipedia : 74 Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder... more...

GeneReviews: NBK1153

Related Diseases for Roberts Syndrome

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

(show top 50) (show all 689)
# Related Disease Score Top Affiliating Genes
1 warsaw breakage syndrome 30.5 SMC3 SMC1A RAD21 PDS5A NIPBL H2AC18
2 cornelia de lange syndrome 1 29.9 RAD21 NIPBL HDAC8
3 sc phocomelia syndrome 28.7 SMC3 SMC1A RAD21 PDS5A NIPBL MAU2
4 cornelia de lange syndrome 24.1 WAPL SMC3 SMC1A SGO1 RAD21 PDS5A
5 sickle cell anemia 12.4
6 retinoblastoma 12.4
7 sc(1) trait of saliva 12.2
8 lissencephaly 2 12.2
9 saethre-chotzen syndrome 12.2
10 idiopathic interstitial pneumonia 11.6
11 respiratory bronchiolitis-interstitial lung disease syndrome 11.6
12 bladder cancer 11.5
13 small cell cancer of the lung 11.5
14 glioma 11.5
15 sydenham chorea 11.5
16 rheumatic encephalitis 11.5
17 cervical cancer 11.5
18 leukemia, chronic myeloid 11.5
19 retinal cancer 11.5
20 penile cancer 11.3
21 lissencephaly with cerebellar hypoplasia 11.2
22 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 11.2
23 atelosteogenesis, type i 11.2
24 boomerang dysplasia 11.2
25 familial retinoblastoma 11.1
26 scrapie 10.7
27 prion disease 10.6
28 lung cancer 10.6
29 pleuropneumonia 10.5
30 sickle cell disease 10.5
31 osteogenic sarcoma 10.5
32 adenocarcinoma 10.5
33 hemoglobinopathy 10.4
34 phocomelia 10.4
35 genetic prion diseases 10.4
36 breast cancer 10.4
37 prostate cancer 10.4
38 squamous cell carcinoma 10.4
39 hemangioma 10.4
40 autosomal recessive disease 10.4
41 triiodothyronine receptor auxiliary protein 10.4
42 creutzfeldt-jakob disease 10.4
43 hair whorl 10.4
44 hepatocellular carcinoma 10.3
45 adenoma 10.3
46 ovarian cancer 10.3
47 thalassemia 10.3
48 pituitary tumors 10.3
49 acute chest syndrome 10.3
50 papilloma 10.3

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



Diseases related to Roberts Syndrome

Symptoms & Phenotypes for Roberts Syndrome

Human phenotypes related to Roberts Syndrome:

58 31 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
4 underdeveloped nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000430
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
7 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
8 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
9 proximal placement of thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009623
10 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
11 complete duplication of thumb phalanx 58 31 hallmark (90%) Very frequent (99-80%) HP:0009943
12 aplasia/hypoplasia of the thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009601
13 hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0002984
14 phocomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009829
15 mesomelic arm shortening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005011
16 severe intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008846
17 radial deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009466
18 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
19 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
20 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
21 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
22 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
23 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
24 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
25 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
26 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
27 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
28 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
29 long penis 58 31 frequent (33%) Frequent (79-30%) HP:0000040
30 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
31 underdeveloped supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0009891
32 absent earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0000387
33 midface capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0007452
34 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
35 clitoral hypertrophy 31 frequent (33%) HP:0008665
36 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
37 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
38 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
39 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
40 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
41 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
42 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
43 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
44 polycystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000113
45 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
46 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
47 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
48 synostosis of carpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0005048
49 wrist flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001239
50 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
cataract
microphthalmia
shallow orbits
downslanting palpebral fissures
more
Head And Neck Neck:
short neck
nuchal cystic hygroma

Neurologic Central Nervous System:
hydrocephalus
cranial nerve paralysis
frontal encephalocele
mental retardation

Genitourinary Kidneys:
horseshoe kidney
polycystic kidney

Skeletal Skull:
craniosynostosis

Head And Neck Head:
microcephaly
brachycephaly

Cardiovascular Vascular:
patent ductus arteriosus

Skin Nails Hair Hair:
sparse hair
silvery blonde scalp hair

Skeletal Feet:
ankle contracture
talipes equinovalgus
reduction in number of toes

Genitourinary External Genitalia Female:
enlarged labia minora
enlarged clitoris

Skeletal Limbs:
tetraphocomelia
elbow contracture
hypomelia (more severe in upper limbs)
absence or reduction in length of humerus, radius, or ulna
knee contracture
more
Growth Height:
birth length less than 40cm

Growth Other:
severe prenatal growth deficiency
mild-severe postnatal growth deficiency

Skin Nails Hair Skin:
midfacial capillary hemangioma
cafe au lait spots on trunk and extremities

Head And Neck Ears:
low-set ears
lobeless ears
malformed ears
posteriorly-angulated ears

Skeletal Hands:
clinodactyly
brachydactyly
oligodactyly
syndactyly
wrist contracture
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
micrognathia
malar hypoplasia

Cardiovascular Heart:
ventricular septal defect
atrial septal defect

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate

Genitourinary External Genitalia Male:
hypospadias
enlarged penis

Abdomen Spleen:
accessory spleen

Genitourinary Internal Genitalia Female:
bicornuate uterus

Laboratory Abnormalities:
premature separation of centromeric heterochromatin
normal karyotype
abnormal nuclear morphology

Head And Neck Nose:
hypoplastic nasal alae
thin nares
widened nasal bridge

Growth Weight:
birth weight 1.5-2.2 kg

Abdomen Biliary Tract:
rudimentary gallbladder

Clinical features from OMIM:

268300

UMLS symptoms related to Roberts Syndrome:


seizures

GenomeRNAi Phenotypes related to Roberts Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Dynamic nuclei (hole, folded or small irregular) GR00257-A-1 9.91 CDCA5 ESPL1 RAD21 SGO1 SMC1A SMC3
2 Effect on mitosis GR00257-A-2 9.76 CDCA5 ESPL1 RAD21 SGO1 SMC1A SMC3
3 Inhibition of centrosomal clustering GR00222-A-2 9.13 CDCA5 INCENP SGO1
4 Multipolar spindles GR00222-A-1 8.8 CDCA5 INCENP SGO1

MGI Mouse Phenotypes related to Roberts Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 CHTF18 DDX11 ESCO2 ESPL1 HDAC8 MAU2
2 embryo MP:0005380 9.7 CDCA5 CHTF18 DDX11 ESCO2 ESPL1 HDAC8
3 mortality/aging MP:0010768 9.53 CDCA5 CHTF18 DDX11 ESCO2 ESPL1 HDAC8

Drugs & Therapeutics for Roberts Syndrome

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

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
2
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
3
Melphalan Approved Phase 2 148-82-3 4053 460612
4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
5
Mycophenolic acid Approved Phase 2 24280-93-1 446541
6
leucovorin Approved Phase 1, Phase 2 58-05-9 6006 143
7
Proguanil Approved Phase 1, Phase 2 500-92-5 4923
8
carbamide peroxide Approved Phase 2 124-43-6
9
Hydroxyurea Approved Phase 2 127-07-1 3657
10
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
11
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
12
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
13
Busulfan Approved, Investigational Phase 2 55-98-1 2478
14
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
15 Thymoglobulin Phase 2
16 Antitubercular Agents Phase 2
17 Antibiotics, Antitubercular Phase 2
18 Anti-Bacterial Agents Phase 2
19 Antifungal Agents Phase 2
20 Anti-Infective Agents Phase 1, Phase 2
21 Vitamins Phase 1, Phase 2
22 Trace Elements Phase 1, Phase 2
23 Micronutrients Phase 1, Phase 2
24 Vitamin B Complex Phase 1, Phase 2
25 Vitamin B9 Phase 1, Phase 2
26 Nutrients Phase 1, Phase 2
27 Antiparasitic Agents Phase 1, Phase 2
28 Antiprotozoal Agents Phase 1, Phase 2
29 Hematinics Phase 1, Phase 2
30 Folate Phase 1, Phase 2
31 Antimalarials Phase 1, Phase 2
32 Antibodies, Monoclonal Phase 2
33 Immunosuppressive Agents Phase 2
34 Hormone Antagonists Phase 2
35 Alkylating Agents Phase 2
36 Immunologic Factors Phase 2
37 Anti-Inflammatory Agents Phase 2
38 glucocorticoids Phase 2
39 Antineoplastic Agents, Hormonal Phase 2
40 Antimetabolites Phase 2
41 Calcineurin Inhibitors Phase 2
42 Hormones Phase 2
43 Mitogens Phase 1
44
Hydrocortisone acetate Approved, Vet_approved 50-03-3
45
Hydrocortisone Approved, Vet_approved 50-23-7 5754
46
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
47
Bortezomib Approved, Investigational 179324-69-7 387447 93860
48
Cytarabine Approved, Experimental, Investigational 147-94-4, 65-46-3 6253
49
rituximab Approved 174722-31-7 10201696
50
alemtuzumab Approved, Investigational 216503-57-0

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 A Randomized Controlled Trial to Determine the Efficacy of Ketamine as an Adjunct for Pain Management in Patients With Sickle Cell Crisis Withdrawn NCT03502421 Phase 3 Ketamine
2 HLA-Identical Sibling Donor Bone Marrow Transplantation for Individuals With Severe Sickle Cell Disease Using a Reduced Intensity Conditioning Regimen Unknown status NCT02776202 Phase 2 Fludarabine monophosphate
3 SC Youth Treatment With Hydroxyurea Effects Completed NCT02336373 Phase 2 hydroxyurea
4 The Effect of Jobelyn ( Extract of Sorghum Bicolor) on the Haematological Parameters of Patients With Sickle Cell Anaemia Disease. Completed NCT01703104 Phase 1, Phase 2 Paludrine + Folic Acid
5 A Prospective Open Label, Pharmacokinetic Study of an Oral Hydroxyurea Solution in Children With Sickle Cell Anemia. Recruiting NCT03763656 Phase 2 Hydroxy Urea
6 A Phase 2, Multicenter, Open-Label Study to Assess PK/PD of SEG101 (Crizanlizumab), With or Without Hydroxyurea/Hydroxycarbamide, in Sickle Cell Patients With Vaso-Occlusive Crisis Active, not recruiting NCT03264989 Phase 2 crizanlizumab
7 The Effect of Oral Magnesium Pidolate on Incidence of Painful Crises in Patients With Hemoglobin SC Disease Terminated NCT00040456 Phase 2 Mg Pidolate;Placebo
8 Effectiveness of Hydroxyurea and Magnesium Pidolate Alone and in Combination in Hemoglobin SC Disease: A Phase II Trial Terminated NCT00532883 Phase 2 Hydroxyurea;Magnesium Pidolate
9 Treatment of Adult Patients With Hemoglobin SC Disease Terminated NCT02640573 Phase 2 Hydroxyurea
10 Allogeneic Stem Cell Transplantation Following Nonmyeloablative Chemotherapy in Patients With Hemoglobinopathies Terminated NCT00034528 Phase 2 Busulfan;Fludarabine;FK506;Prednisone
11 A Phase 2 Multi-center, Randomized, Double-blind, Comparator-Controlled Dose Finding Study to Evaluate MP4CO for the Acute Treatment of Vaso-occlusive Crises in Subjects With Sickle Cell Disease Withdrawn NCT01925001 Phase 2 MP4CO;Sodium chloride solution
12 Phase 1 Study to Examine the Use of Far Infrared Radiation for Pain Management During Sickle Cell Crisis Unknown status NCT00599482 Phase 1
13 A Phase 1a Study of IMR-687 in Healthy Adult Volunteers Completed NCT02998450 Phase 1 IMR-687;Placebo Oral Capsule
14 A Phase I/II Trial of Recombinant-Methionyl Human Stem Cell Factor (SCF) in Adult Patients With Sickling Disorders Completed NCT00005783 Phase 1 Recombinant-methionyl human stem cell factor
15 A Multi-center, Randomized, Double Blind, Dose Escalation Safety Study of MP4CO in Clinically Stable Adult Sickle Cell Patients Completed NCT01356485 Phase 1 MP4CO;Sodium chloride solution
16 Atomoxetine, Diurnal Profiles of Cortisol and α-amylase, Possible Biological Markers of Treatment Success Unknown status NCT03075579 Medication Other
17 Evaluation of a Training Program for Homozygous Sickle Cell Disease Patients: Benefits on Physical Ability and Skeletal Muscle. An Interventional Pilot, Multicentric, Prospective, Longitudinal Study Completed NCT02571088
18 Comparative Effectiveness of a Decision Aid for Therapeutic Options in Sickle Cell Disease Completed NCT02326597
19 Computerized PAINRelieveIt for Adult Sickle Cell Disease Completed NCT00600665
20 Peripheral Blood Stem Cells Obtained From Normal Volunteers for Studying Retroviral Vector Mediated Gene Transfer Into Primitive Hematopoietic Cells and Vector Mediated Transgene Expression in Mature Hematopoietic Lineages Completed NCT00758992
21 Metabolic and Vascular Response to Exercise in Sickle Cell Trait Carriers: Effect of Hot Environment Completed NCT04028791
22 Glucose Metabolism in Sickle Cell Disease Recruiting NCT02922296
23 Role of Ajwa Derived Polyphenols in Dyslipidaemias Recruiting NCT03805139
24 Parent Intervention to Improve Academic Success in Children With Sickle Cell Disease Active, not recruiting NCT00860782
25 Managed Access Program (MAP) to Provide Access to Crizanlizumab, for Sickle Cell Disease Patients With History of Vaso-occlusive Crisis Available NCT03720626 crizanlizumab
26 Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation for Sickle Cell Anemia From HLA Matched or Partially-Matched Related Donors Terminated NCT01350232 Fludarabine;Cytarabine;Cyclophosphamide;Bortezomib;Rituximab
27 Allogeneic Bone Marrow Transplantation From HLA Identical Related Donors for Patients With Hemoglobinopathies: Hemoglobin SS, Hemoglobin SC, or Hemoglobin SB0/+ Thalassemia Terminated NCT00578344 Busulfan;Cyclophosphamide and MESNA

Search NIH Clinical Center for Roberts Syndrome

Cochrane evidence based reviews: roberts syndrome

Genetic Tests for Roberts Syndrome

Genetic tests related to Roberts Syndrome:

# Genetic test Affiliating Genes
1 Roberts-Sc Phocomelia Syndrome 29 ESCO2

Anatomical Context for Roberts Syndrome

MalaCards organs/tissues related to Roberts Syndrome:

40
Bone, Kidney, Heart, Brain, Lung, Eye, Prostate

Publications for Roberts Syndrome

Articles related to Roberts Syndrome:

(show top 50) (show all 212)
# Title Authors PMID Year
1
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. 61 24 56 6
15821733 2005
2
SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. 61 24 56 6
3740099 1986
3
Cytogenetic findings in Roberts-SC phocomelia syndrome(s). 61 56 6
495649 1979
4
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. 61 24 56
19574259 2010
5
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. 61 24 56
18411254 2008
6
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. 61 24 6
16380922 2005
7
Roberts syndrome: a review of 100 cases and a new rating system for severity. 61 24 56
8291532 1993
8
Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection. 61 24 56
1809233 1991
9
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. 61 24 56
2359099 1990
10
Premature centromere splitting in a presumptive mild form of Roberts syndrome. 61 24 56
6698562 1984
11
The SC phocomelia and the Roberts syndrome: nosologic aspects. 61 24 56
872834 1977
12
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. 61 56
20101700 2010
13
The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: some additions. 61 56
19533786 2009
14
Roberts Syndrome 61 6
20301332 2006
15
Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells. 61 56
15887093 2005
16
Autopsy on a case of Roberts syndrome reported in 1672: the earliest description? 61 56
12548750 2003
17
Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. 61 56
10925387 2000
18
Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome. 61 56
9788553 1998
19
Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]. 61 56
9332660 1997
20
Picture of the month. Roberts-SC phocomelia syndrome. 61 56
8646318 1996
21
Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. 61 56
7558058 1995
22
Heterogeneity in Roberts syndrome. 61 56
7536395 1995
23
Clinical heterogeneity of skeletal dysplasia in Roberts syndrome: a review. 61 56
8039795 1994
24
Roberts-SC phocomelia syndrome: a case with additional anomalies. 61 56
8004795 1994
25
Prenatal diagnosis of Roberts syndrome. 61 56
1494554 1992
26
First-trimester prenatal diagnosis of Roberts syndrome. 61 56
1553361 1992
27
Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism. 61 56
2055135 1991
28
Roberts syndrome with normal cell division. 61 56
2012128 1991
29
Roberts syndrome and SC phocomelia. A single genetic entity. 61 56
3568444 1987
30
The Roberts tetraphocomelia syndrome: identical limb defects in two siblings. 61 56
3501269 1987
31
Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. 61 56
3788975 1986
32
Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics? 61 56
6517054 1984
33
Nuchal cystic hygroma in a fetus with presumed Roberts syndrome. 61 56
6859118 1983
34
[The Roberts syndrome. Report of a case without anomaly of the centrometric region (author's transl)]. 61 56
7110148 1982
35
The Roberts syndrome. 61 56
7152521 1982
36
The tetraphocomelia-cleft palate syndrome in identical twins. 61 56
7188929 1980
37
Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing. 61 56
527250 1979
38
The Roberts' syndrome. 61 56
631853 1978
39
Prenatal diagnosis of renal anomalies. 61 56
610432 1977
40
The Roberts syndrome. 61 56
4151884 1974
41
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. 56
22002800 2011
42
Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. 61 24
18186147 2008
43
A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound. 61 24
17533626 2007
44
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency. 61 24
16775838 2006
45
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. 61 24
15146185 2004
46
Roberts syndrome from the plastic surgeon's viewpoint. 61 24
11604661 2001
47
History of C-patient with SC-Roberts/pseudothalidamide syndrome. 6
1642282 1992
48
Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management. 61 24
1612213 1992
49
Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome. 61 24
3205861 1988
50
Four siblings with Robert's syndrome. 56
7067161 1982

Variations for Roberts Syndrome

ClinVar genetic disease variations for Roberts Syndrome:

6 (show top 50) (show all 84) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ESCO2 NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs)indel Pathogenic 210961 rs797045565 8:27637723-27637723 8:27780206-27780206
2 ESCO2 NM_001017420.3(ESCO2):c.911dup (p.Asn304fs)duplication Pathogenic 210962 rs797045566 8:27637735-27637736 8:27780218-27780219
3 ESCO2 NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly)SNV Pathogenic 1735 rs80359868 8:27657175-27657175 8:27799658-27799658
4 ESCO2 NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter)SNV Pathogenic 1736 rs80359849 8:27634330-27634330 8:27776813-27776813
5 ESCO2 NM_001017420.3(ESCO2):c.751dup (p.Glu251fs)duplication Pathogenic 1737 rs1554554098 8:27634575-27634576 8:27777058-27777059
6 ESCO2 NM_001017420.3(ESCO2):c.760dup (p.Thr254fs)duplication Pathogenic 1738 rs80359852 8:27634576-27634577 8:27777059-27777060
7 ESCO2 NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter)SNV Pathogenic 1739 rs80359864 8:27649485-27649485 8:27791968-27791968
8 ESCO2 NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter)SNV Pathogenic 1740 rs80359850 8:27634429-27634429 8:27776912-27776912
9 ESCO2 NM_001017420.3(ESCO2):c.1111_1112insG (p.Thr371fs)insertion Pathogenic 21231 rs1554555716 8:27645499-27645500 8:27787982-27787983
10 ESCO2 NM_001017420.3(ESCO2):c.1263+1G>CSNV Pathogenic 21235 rs80359863 8:27646496-27646496 8:27788979-27788979
11 ESCO2 NM_001017420.3(ESCO2):c.1354-18G>ASNV Pathogenic 21236 rs80359865 8:27650167-27650167 8:27792650-27792650
12 ESCO2 NM_001017420.3(ESCO2):c.1457_1458AG[2] (p.Arg487fs)short repeat Pathogenic 21237 rs80359866 8:27650288-27650289 8:27792771-27792772
13 ESCO2 NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs)duplication Pathogenic 21238 rs80359867 8:27657156-27657157 8:27799639-27799640
14 ESCO2 NM_001017420.3(ESCO2):c.1674-2A>GSNV Pathogenic 21239 rs80359869 8:27660821-27660821 8:27803304-27803304
15 ESCO2 NM_001017420.3(ESCO2):c.252_253del (p.Ser85fs)deletion Pathogenic 21241 rs80359844 8:27634076-27634077 8:27776559-27776560
16 ESCO2 NM_001017420.3(ESCO2):c.292_293GA[1] (p.Arg99fs)short repeat Pathogenic 21242 rs80359845 8:27634117-27634120 8:27776600-27776603
17 ESCO2 NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs)deletion Pathogenic 21243 rs80359846 8:27634131-27634135 8:27776614-27776618
18 ESCO2 NM_001017420.3(ESCO2):c.308_309del (p.Lys103fs)deletion Pathogenic 21244 rs80359847 8:27634131-27634132 8:27776614-27776615
19 ESCO2 NM_001017420.3(ESCO2):c.417dup (p.Pro140fs)duplication Pathogenic 21245 rs80359848 8:27634236-27634237 8:27776719-27776720
20 ESCO2 NM_001017420.3(ESCO2):c.745_746del (p.Val249fs)deletion Pathogenic 21246 rs80359851 8:27634569-27634570 8:27777052-27777053
21 ESCO2 NM_001017420.3(ESCO2):c.760del (p.Thr254fs)deletion Pathogenic 21247 rs80359852 8:27634577-27634577 8:27777060-27777060
22 ESCO2 NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs)deletion Pathogenic 21249 rs80359855 8:27634587-27634588 8:27777070-27777071
23 ESCO2 NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs)deletion Pathogenic 21250 rs80359856 8:27637703-27637706 8:27780186-27780189
24 ESCO2 NM_001017420.3(ESCO2):c.877_878AG[1] (p.Arg293fs)short repeat Pathogenic 21251 rs80359857 8:27637706-27637707 8:27780189-27780190
25 ESCO2 NM_001017420.3(ESCO2):c.955+2_955+5deldeletion Pathogenic 21252 rs80359858 8:27637783-27637786 8:27780266-27780269
26 ESCO2 NM_001017420.3(ESCO2):c.1131+1G>ASNV Pathogenic 21233 rs80359861 8:27645520-27645520 8:27788003-27788003
27 ESCO2 NM_001017420.3(ESCO2):c.1132-7A>GSNV Pathogenic/Likely pathogenic 21234 rs80359862 8:27646357-27646357 8:27788840-27788840
28 ESCO2 NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)duplication Likely pathogenic 21232 rs80359859 8:27645492-27645493 8:27787975-27787976
29 ESCO2 NM_001017420.3(ESCO2):c.116dup (p.Asn39fs)duplication Likely pathogenic 800869 8:27633937-27633938 8:27776420-27776421
30 ESCO2 NM_001017420.3(ESCO2):c.956-2A>GSNV Likely pathogenic 804409 8:27641515-27641515 8:27783998-27783998
31 ESCO2 NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr)SNV Conflicting interpretations of pathogenicity 158573 rs146312522 8:27646407-27646407 8:27788890-27788890
32 ESCO2 NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)SNV Conflicting interpretations of pathogenicity 196298 rs201989984 8:27633972-27633972 8:27776455-27776455
33 ESCO2 NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=)SNV Conflicting interpretations of pathogenicity 362744 rs73568217 8:27657207-27657207 8:27799690-27799690
34 ESCO2 NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=)SNV Conflicting interpretations of pathogenicity 362743 rs149917909 8:27657108-27657108 8:27799591-27799591
35 ESCO2 NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)SNV Conflicting interpretations of pathogenicity 362738 rs57479434 8:27645464-27645464 8:27787947-27787947
36 ESCO2 NM_001017420.3(ESCO2):c.1013+7A>GSNV Conflicting interpretations of pathogenicity 362737 rs149494070 8:27641581-27641581 8:27784064-27784064
37 ESCO2 NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr)SNV Conflicting interpretations of pathogenicity 362745 rs115144373 8:27660884-27660884 8:27803367-27803367
38 ESCO2 NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)SNV Conflicting interpretations of pathogenicity 362732 rs199653554 8:27634150-27634150 8:27776633-27776633
39 ESCO2 NM_001017420.3(ESCO2):c.447A>G (p.Gln149=)SNV Uncertain significance 362733 rs886062858 8:27634272-27634272 8:27776755-27776755
40 ESCO2 NM_001017420.3(ESCO2):c.*172G>CSNV Uncertain significance 362760 rs539459940 8:27661127-27661127 8:27803610-27803610
41 ESCO2 NM_001017420.3(ESCO2):c.*222T>CSNV Uncertain significance 362761 rs886062868 8:27661177-27661177 8:27803660-27803660
42 ESCO2 NM_001017420.3(ESCO2):c.*112_*113AC[14]short repeat Uncertain significance 362753 rs56062620 8:27661066-27661067 8:27803549-27803550
43 ESCO2 NM_001017420.3(ESCO2):c.*112_*113AC[7]short repeat Uncertain significance 362754 rs56062620 8:27661067-27661070 8:27803550-27803553
44 ESCO2 NM_001017420.3(ESCO2):c.*112_*113AC[11]short repeat Uncertain significance 362751 rs56062620 8:27661066-27661067 8:27803549-27803550
45 ESCO2 NM_001017420.3(ESCO2):c.*481dupduplication Uncertain significance 362765 rs111395487 8:27661421-27661422 8:27803904-27803905
46 ESCO2 NM_001017420.3(ESCO2):c.-33C>TSNV Uncertain significance 362729 rs886062856 8:27632108-27632108 8:27774591-27774591
47 ESCO2 NM_001017420.3(ESCO2):c.*155T>GSNV Uncertain significance 362759 rs886062867 8:27661110-27661110 8:27803593-27803593
48 ESCO2 NM_001017420.3(ESCO2):c.*76_*79dupduplication Uncertain significance 362748 rs139887923 8:27661030-27661031 8:27803513-27803514
49 ESCO2 NM_001017420.3(ESCO2):c.*112_*113AC[12]short repeat Uncertain significance 362752 rs56062620 8:27661066-27661067 8:27803549-27803550
50 ESCO2 NM_001017420.3(ESCO2):c.*261T>ASNV Uncertain significance 362762 rs886062869 8:27661216-27661216 8:27803699-27803699

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

73
# Symbol AA change Variation ID SNP ID
1 ESCO2 p.Trp539Gly VAR_022649 rs80359868

Expression for Roberts Syndrome

Search GEO for disease gene expression data for Roberts Syndrome.

Pathways for Roberts Syndrome

Pathways related to Roberts Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 ZWINT ZW10 SGO1 INCENP H2AC18
2
Show member pathways
12.76 ZWINT ZW10 WAPL SMC3 SMC1A SGO1
3
Show member pathways
12.71 ZWINT ZW10 WAPL SMC3 SMC1A SGO1
4
Show member pathways
12.43 ZWINT ZW10 WAPL SMC3 SMC1A SGO1
5
Show member pathways
12.33 SMC3 SMC1A RAD21 INCENP
6 12.27 WAPL SMC3 SMC1A RAD21 INCENP
7
Show member pathways
12.24 SMC3 SMC1A RAD21 H2AC18
8 12.16 WAPL SMC3 SMC1A RAD21
9 12.13 SMC3 SMC1A RAD21 HDAC8 ESPL1
10
Show member pathways
12.09 SMC3 SMC1A SGO1 ESPL1
11 11.7 ZW10 SMC3 SMC1A RAD21 ESPL1
12
Show member pathways
10.91 WAPL SMC3 SMC1A RAD21 PDS5A NIPBL

GO Terms for Roberts Syndrome

Cellular components related to Roberts Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.35 ZWINT ZW10 WAPL SMC3 SMC1A SGO1
2 nucleus GO:0005634 10.32 ZWINT ZW10 WAPL SMC3 SMC1A SGO1
3 nucleoplasm GO:0005654 10.27 ZWINT WAPL SMC3 SMC1A SGO1 RAD21
4 nuclear body GO:0016604 9.88 ZWINT SGO1 MAU2 INCENP
5 kinetochore GO:0000776 9.88 ZWINT ZW10 SMC1A SGO1 INCENP
6 spindle pole GO:0000922 9.83 ZW10 SGO1 RAD21 DDX11
7 chromatin GO:0000785 9.81 WAPL SMC3 RAD21 PDS5A NIPBL MAU2
8 condensed chromosome kinetochore GO:0000777 9.8 ZWINT ZW10 SMC1A SGO1 INCENP
9 nuclear matrix GO:0016363 9.74 SMC3 SMC1A RAD21
10 cohesin complex GO:0008278 9.65 WAPL SMC3 SMC1A RAD21 CDCA5
11 chromosome, centromeric region GO:0000775 9.65 ZWINT ZW10 WAPL SMC3 SMC1A SGO1
12 Ctf18 RFC-like complex GO:0031390 9.63 DDX11 CHTF8 CHTF18
13 meiotic cohesin complex GO:0030893 9.61 SMC3 SMC1A RAD21
14 mitotic spindle pole GO:0097431 9.58 SMC3 SMC1A
15 lateral element GO:0000800 9.56 SMC3 INCENP
16 chromocenter GO:0010369 9.55 INCENP ESCO2
17 chromosome GO:0005694 9.53 ZWINT ZW10 WAPL SMC3 SMC1A SGO1
18 Scc2-Scc4 cohesin loading complex GO:0090694 9.51 NIPBL MAU2
19 SMC loading complex GO:0032116 9.49 NIPBL MAU2

Biological processes related to Roberts Syndrome according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.01 SMC3 SMC1A RAD21 NIPBL DDX11
2 cell division GO:0051301 10 ZWINT ZW10 WAPL SMC3 SMC1A SGO1
3 DNA repair GO:0006281 9.97 SMC3 SMC1A RAD21 PDS5A DDX11
4 chromosome segregation GO:0007059 9.85 SGO1 RAD21 MAU2 INCENP ESPL1 ESCO2
5 meiotic cell cycle GO:0051321 9.84 ZW10 SMC3 SMC1A RAD21
6 mitotic cell cycle GO:0000278 9.83 ZW10 WAPL SMC3 ESPL1 CDCA5
7 DNA duplex unwinding GO:0032508 9.78 DDX11 CHTF8 CHTF18
8 double-strand break repair GO:0006302 9.78 RAD21 NIPBL ESCO2 CDCA5
9 stem cell population maintenance GO:0019827 9.76 SMC3 SMC1A NIPBL
10 mitotic sister chromatid segregation GO:0000070 9.72 ZWINT ZW10 SMC1A INCENP ESPL1
11 regulation of DNA replication GO:0006275 9.67 SMC3 ESCO2 ESCO1
12 regulation of mitotic spindle assembly GO:1901673 9.63 SMC3 SMC1A
13 protein localization to chromatin GO:0071168 9.63 WAPL RAD21 ESCO2
14 mitotic sister chromatid cohesion GO:0007064 9.63 SMC1A PDS5A NIPBL MAU2 CHTF8 CDCA5
15 negative regulation of DNA replication GO:0008156 9.62 WAPL PDS5A
16 mitotic chromosome condensation GO:0007076 9.62 NIPBL CDCA5
17 positive regulation of DNA-directed DNA polymerase activity GO:1900264 9.6 CHTF8 CHTF18
18 meiotic chromosome segregation GO:0045132 9.59 WAPL SGO1
19 regulation of cohesin loading GO:0071922 9.58 WAPL HDAC8 CDCA5
20 positive regulation of sister chromatid cohesion GO:0045876 9.57 RAD21 DDX11
21 maintenance of mitotic sister chromatid cohesion GO:0034088 9.56 NIPBL MAU2
22 post-translational protein acetylation GO:0034421 9.55 ESCO2 ESCO1
23 cell cycle GO:0007049 9.53 ZWINT ZW10 WAPL SMC3 SMC1A SGO1
24 cohesin loading GO:0071921 9.52 NIPBL MAU2
25 negative regulation of sister chromatid cohesion GO:0045875 9.51 WAPL ESPL1
26 sister chromatid cohesion GO:0007062 9.5 SMC3 SMC1A RAD21 HDAC8 ESCO2 ESCO1

Molecular functions related to Roberts Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.5 ZWINT NIPBL MAU2
2 chromatin binding GO:0003682 9.43 SMC3 SMC1A RAD21 NIPBL DDX11 CDCA5
3 acetyltransferase activity GO:0016407 9.37 ESCO2 ESCO1
4 single-stranded DNA-dependent ATP-dependent DNA helicase activity GO:0017116 9.26 CHTF8 CHTF18
5 DNA clamp loader activity GO:0003689 9.16 CHTF8 CHTF18
6 mediator complex binding GO:0036033 8.8 SMC3 SMC1A NIPBL

Sources for Roberts 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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