MCID: DBW001
MIFTS: 49

Dubowitz Syndrome

Categories: Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dubowitz Syndrome

MalaCards integrated aliases for Dubowitz Syndrome:

Name: Dubowitz Syndrome 56 12 74 52 58 43 15 71
Dubowitz's Syndrome 12 29
Intrauterine Growth Retardation, Short Stature, Microcephaly, Mild Mental Retardation with Behavior Problems, Eczema, and Unusual and Distinctive Faci 52
Dwarfism-Eczema-Peculiar Facies Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
dubowitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
dubowitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Dubowitz Syndrome

NIH Rare Diseases : 52 Dubowitz syndrome is a very rare genetic and developmental disorder with a broad range of signs and symptoms. The typical findings of Dubowitz syndrome include growth failure/short stature , characteristic facial features such as a small triangular face, high sloping forehead, drooping eyelid (ptosis ), short eyelids, increased distance between eyes (hypertelorism) broad and flat nasal bridge with a prominent and rounded nasal tip, smaller than normal head (microcephaly ), intellectual disability , and eczema , especially on the face and behind the knees. Other common findings are behavioral disorders (hyperactivity, and/or autistic features), speech alterations, scanty or absent hair, foot abnormalities, delayed bone age , bone defects of the lower part of the spine (sacrum and coccyx), testicles that are still not located in the scrotum (cryptorchidism), memory and / or learning problems. There may be an increased risk of having cancer such as leukemia , or lymphoma . The diagnosis is made based on the symptoms (specially the facial features), but there is no specific laboratory test. The cause is still unknown, but, some people who are diagnosed with the syndrome may have variants (mutations ) in the NSUN2 and LIG4 genes , or have loss or gain of microscopic material in some chromosomes (chromosomal microdeletions or microduplications). Although there is no specific treatment or cure, there are ways to control the symptoms. Often a team of doctors is needed to determine the treatment options for each person.

MalaCards based summary : Dubowitz Syndrome, also known as dubowitz's syndrome, is related to isolated growth hormone deficiency, type ia and microcephaly. An important gene associated with Dubowitz Syndrome is NSUN2 (NOP2/Sun RNA Methyltransferase 2), and among its related pathways/superpathways are DNA Damage and DNA Double Strand Break Response. Affiliated tissues include eye, testes and bone, and related phenotypes are intellectual disability and hypertelorism

Disease Ontology : 12 A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.

Wikipedia : 74 Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a... more...

More information from OMIM: 223370

Related Diseases for Dubowitz Syndrome

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

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ia 30.1 XRCC4 OBSL1 CUL7
2 microcephaly 29.6 XRCC4 UBE3B PRKDC NHEJ1 LIG4 DCLRE1C
3 diarrhea 5, with tufting enteropathy, congenital 11.3
4 dermatitis 10.6
5 autosomal recessive disease 10.5
6 blepharophimosis 10.4
7 ptosis 10.4
8 immunodeficiency with hyper-igm, type 4 10.3 NHEJ1 LIG4
9 cleft palate, isolated 10.3
10 telecanthus 10.3
11 spinocerebellar ataxia type 1 with axonal neuropathy 10.3 XRCC4 NHEJ1 LIG4
12 dwarfism 10.2
13 chromosome 2q35 duplication syndrome 10.2
14 cryptorchidism, unilateral or bilateral 10.2
15 dermatitis, atopic 10.2
16 fetal alcohol syndrome 10.2
17 alcohol-related birth defect 10.2
18 bowen-conradi syndrome 10.1 RNMT NSUN5 BUD23
19 bloom syndrome 10.1
20 immune deficiency disease 10.1
21 scoliosis 10.1
22 neuroblastoma 10.1
23 growth hormone deficiency 10.1
24 bare lymphocyte syndrome, type ii 10.0 NHEJ1 LIG4 DCLRE1C
25 purine nucleoside phosphorylase deficiency 10.0 NHEJ1 DCLRE1C
26 valproate embryopathy 10.0 VAX2 EIF4H BUD23
27 seckel syndrome 10.0 XRCC4 PRKDC NHEJ1 LIG4
28 autosomal recessive cerebellar ataxia 10.0 XRCC4 PRKDC NHEJ1
29 nijmegen breakage syndrome 9.9 NHEJ1 LIG4 DCLRE1C
30 anorectal anomalies 9.9
31 arteries, anomalies of 9.9
32 epicanthus 9.9
33 hypertelorism 9.9
34 hyper-ige recurrent infection syndrome 1, autosomal dominant 9.9
35 pectus excavatum 9.9
36 pilonidal sinus 9.9
37 neural tube defects 9.9
38 strabismus 9.9
39 tetralogy of fallot 9.9
40 arachnoid cysts, intracranial 9.9
41 microcephalic osteodysplastic primordial dwarfism, type ii 9.9
42 smith-lemli-opitz syndrome 9.9
43 opitz gbbb syndrome, type i 9.9
44 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.9
45 carney complex variant 9.9
46 aplastic anemia 9.9
47 chromosome 19q13.11 deletion syndrome, distal 9.9
48 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
49 hyperlipoproteinemia, type iii 9.9
50 lipoprotein quantitative trait locus 9.9

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



Diseases related to Dubowitz Syndrome

Symptoms & Phenotypes for Dubowitz Syndrome

Human phenotypes related to Dubowitz Syndrome:

58 31 (show top 50) (show all 117)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
6 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
7 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
8 underdeveloped supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0009891
9 aplasia/hypoplasia of the thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009601
10 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
11 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
12 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
13 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
14 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
15 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
16 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
17 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
18 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
19 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
20 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
21 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
22 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
23 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
24 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
25 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
26 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
27 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
28 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
29 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
30 eczema 58 31 frequent (33%) Frequent (79-30%) HP:0000964
31 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
32 wide anterior fontanel 58 31 frequent (33%) Frequent (79-30%) HP:0000260
33 delayed cranial suture closure 58 31 frequent (33%) Frequent (79-30%) HP:0000270
34 abnormality of the antihelix 58 31 frequent (33%) Frequent (79-30%) HP:0009738
35 sparse lateral eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0005338
36 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
37 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
38 abnormality of female external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000055
39 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
40 submucous cleft hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0000176
41 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
42 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
43 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
44 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
45 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
46 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
47 cutaneous photosensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000992
48 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
49 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
50 metatarsus adductus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001840

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
inguinal hernia
hypospadias

Head And Neck Head:
microcephaly
average birth head circumference 30.6cm

Head And Neck Eyes:
strabismus
ptosis
iris coloboma
microphthalmia
telecanthus
more
Growth Other:
intrauterine growth retardation
postnatal growth failure

Head And Neck Ears:
low-set ears
otitis media
dysplastic ears
prominent ears

Neoplasia:
lymphoma
neuroblastoma
aplastic anemia
acute lymphatic leukemia

Immunology:
recurrent infections
iga deficiency
hypogammaglobulinemia

Head And Neck Nose:
broad nasal tip
broad nasal bridge

Head And Neck Mouth:
velopharyngeal insufficiency
high-arched palate
submucous cleft palate

Skeletal:
delayed bone age

Head And Neck Teeth:
caries
missing teeth
delayed eruption

Growth Weight:
average birth weight 2.3kg

Skeletal Feet:
pes planus
two-three toe syndactyly

Abdomen Gastrointestinal:
gastroesophageal reflux
chronic diarrhea
poor feeding
frequent vomiting

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
micrognathia
facial asymmetry
small face
elongation of face with age
shallow supraorbital ridge
more
Skin Nails Hair Hair:
sparse scalp hair

Skin Nails Hair Skin:
sacral dimple
eczema (face and flexural areas)

Neurologic Central Nervous System:
hyperactivity
hypotonia
speech delay
mental retardation, moderate to severe (10-15% of patients)

Neurologic Behavioral Psychiatric Manifestations:
short attention span

Skeletal Hands:
fifth finger clinodactyly

Voice:
high-pitched voice

Growth Height:
average birth length 44cm

Clinical features from OMIM:

223370

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 CUL7
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 CUL7 LIG4 PRKDC
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.23 CUL7 DCLRE1C PRKDC XRCC4
4 Increased homologous recombination repair frequency GR00151-A-1 8.96 LIG4
5 Increased homologous recombination repair frequency GR00151-A-2 8.96 LIG4

MGI Mouse Phenotypes related to Dubowitz Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 CUL7 DCLRE1C LIG4 NHEJ1 NSUN2 NSUN7
2 growth/size/body region MP:0005378 9.93 CUL7 DCLRE1C EIF4H LIG4 NHEJ1 NSUN2
3 mortality/aging MP:0010768 9.77 BUD23 CUL7 EIF4H LIG4 NHEJ1 NSUN2
4 nervous system MP:0003631 9.32 EIF4H LIG4 NHEJ1 NSUN2 NSUN5 PRKDC

Drugs & Therapeutics for Dubowitz Syndrome

Search Clinical Trials , NIH Clinical Center for Dubowitz Syndrome

Cochrane evidence based reviews: dubowitz syndrome

Genetic Tests for Dubowitz Syndrome

Genetic tests related to Dubowitz Syndrome:

# Genetic test Affiliating Genes
1 Dubowitz's Syndrome 29

Anatomical Context for Dubowitz Syndrome

MalaCards organs/tissues related to Dubowitz Syndrome:

40
Eye, Testes, Bone, Skin, Heart, Neutrophil, T Cells

Publications for Dubowitz Syndrome

Articles related to Dubowitz Syndrome:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Dubowitz syndrome: a cholesterol metabolism disorder? 61 56 52
18990984 2008
2
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. 56 61 52
8723121 1996
3
Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome. 56 61
10797433 2000
4
Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? 61 56
10508998 1999
5
Dubowitz syndrome: long-term follow-up of an original patient. 56 61
7536394 1995
6
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? 61 56
1552551 1992
7
Chromosomal instability in two siblings with Dubowitz syndrome. 61 56
2043468 1991
8
New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism. 61 56
2248292 1990
9
Dubowitz syndrome: possible evidence for a clinical subtype. 61 56
2185633 1990
10
Fatal aplastic anaemia in a child with features of Dubowitz syndrome. 61 56
3428295 1987
11
A Japanese patient with the Dubowitz syndrome. 61 56
3621642 1987
12
The Dubowitz syndrome. 61 56
3709570 1986
13
The diagnosis of Dubowitz syndrome in the neonatal period--a case report. 56 61
3732320 1986
14
Dubowitz syndrome. 61 56
3950932 1986
15
Aplastic anemia in Dubowitz syndrome. 61 56
4038999 1985
16
The Dubowitz syndrome: a retrospective. 61 56
3877102 1985
17
The Dubowitz syndrome: further observations. 56 61
6258433 1980
18
The Dubowitz syndrome: the psychological status of ten cases at follow-up. 61 56
7190357 1980
19
Brief clinical report: the Dubowitz syndrome in a teenager. 56 61
575467 1979
20
The Dubowitz syndrome. 61 56
263660 1978
21
[Dubowitz syndrome with immunodeficiency and solid malignant tumor in two siblings (author's transl)]. 56 61
917026 1977
22
A rare type of low birthweight dwarfism: the Dubowitz syndrome. 61 56
242126 1975
23
Studies of malformation syndromes of man XXIV B: the Dubowitz syndrome. Further observations. 56 61
4771703 1973
24
The Dubowitz syndrome. 61 56
5088752 1971
25
Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres. 61 52
29696806 2018
26
FAMILIAL LOW BIRTHWEIGHT DWARFISM WITH AN UNUSUAL FACIES AND A SKIN ERUPTION. 56
14296916 1965
27
Anaesthesia and orphan disease: Dubowitz syndrome. 61
31274551 2019
28
Unsolved recognizable patterns of human malformation: Challenges and opportunities. 61
30580485 2018
29
Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research. 61
30580484 2018
30
Spontaneous Keloids: A Literature Review. 61
30114700 2018
31
PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature. 61
28464511 2017
32
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. 61
28003643 2017
33
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. 61
27612988 2016
34
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome. 61
26377242 2015
35
Dubowitz syndrome and the increased risk of developing malignancies. 61
26009798 2015
36
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. 61
25559542 2015
37
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. 61
24973050 2014
38
Profound T-cell defects in Dubowitz syndrome. 61
24899539 2014
39
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. 61
24892279 2014
40
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 61
23649928 2013
41
Dubowitz syndrome: common findings and peculiar urine odor. 61
24159261 2013
42
Identification of the DNA repair defects in a case of Dubowitz syndrome. 61
23372718 2013
43
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. 61
22577224 2012
44
Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome. 61
23534331 2012
45
Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features. 61
22121397 2011
46
Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report. 61
21769769 2011
47
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? 61
21548126 2011
48
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. 61
21567902 2011
49
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome. 61
23074674 2011
50
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. 61
21272302 2011

Variations for Dubowitz Syndrome

Expression for Dubowitz Syndrome

Search GEO for disease gene expression data for Dubowitz Syndrome.

Pathways for Dubowitz Syndrome

GO Terms for Dubowitz Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.03 XRCC4 USB1 SMN2 RNMT PSMD12 PRKDC
2 nuclear chromosome, telomeric region GO:0000784 9.54 PRKDC LIG4 DCLRE1C
3 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.33 XRCC4 PRKDC LIG4
4 3M complex GO:1990393 9.32 OBSL1 CUL7
5 DNA ligase IV complex GO:0032807 9.13 XRCC4 NHEJ1 LIG4
6 nonhomologous end joining complex GO:0070419 9.02 XRCC4 PRKDC NHEJ1 LIG4 DCLRE1C

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.95 XRCC4 PRKDC NHEJ1 LIG4 DCLRE1C
2 DNA repair GO:0006281 9.91 XRCC4 PRKDC NHEJ1 LIG4 DCLRE1C
3 central nervous system development GO:0007417 9.77 VAX2 NHEJ1 LIG4
4 DNA recombination GO:0006310 9.73 XRCC4 PRKDC LIG4 DCLRE1C
5 methylation GO:0032259 9.73 RNMT NSUN7 NSUN6 NSUN5 NSUN2 BUD23
6 response to ionizing radiation GO:0010212 9.62 PRKDC NHEJ1 LIG4 DCLRE1C
7 chromosome organization GO:0051276 9.61 LIG4 DCLRE1C
8 response to gamma radiation GO:0010332 9.6 PRKDC LIG4
9 regulation of mitotic nuclear division GO:0007088 9.58 OBSL1 CUL7
10 positive regulation of dendrite morphogenesis GO:0050775 9.58 OBSL1 CUL7
11 RNA methylation GO:0001510 9.58 NSUN6 NSUN5 NSUN2
12 response to X-ray GO:0010165 9.57 XRCC4 LIG4
13 cellular response to lithium ion GO:0071285 9.56 XRCC4 LIG4
14 establishment of integrated proviral latency GO:0075713 9.54 XRCC4 LIG4
15 V(D)J recombination GO:0033151 9.54 PRKDC LIG4 DCLRE1C
16 DNA ligation involved in DNA repair GO:0051103 9.52 XRCC4 LIG4
17 T cell receptor V(D)J recombination GO:0033153 9.49 PRKDC LIG4
18 positive regulation of ligase activity GO:0051351 9.48 XRCC4 NHEJ1
19 pro-B cell differentiation GO:0002328 9.46 PRKDC LIG4
20 double-strand break repair via nonhomologous end joining GO:0006303 9.35 XRCC4 PRKDC NHEJ1 LIG4 DCLRE1C
21 immunoglobulin V(D)J recombination GO:0033152 9.33 XRCC4 PRKDC LIG4
22 double-strand break repair GO:0006302 9.02 XRCC4 PRKDC NHEJ1 LIG4 DCLRE1C

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.86 UBE3B RNMT PRKDC NSUN7 NSUN6 NSUN5
2 RNA binding GO:0003723 9.61 SMN2 RNMT PRKDC NSUN7 NSUN6 NSUN5
3 ligase activity GO:0016874 9.5 XRCC4 UBE3B LIG4
4 tRNA (cytosine-5-)-methyltransferase activity GO:0016428 9.16 NSUN6 NSUN2
5 methyltransferase activity GO:0008168 9.1 RNMT NSUN7 NSUN6 NSUN5 NSUN2 BUD23

Sources for Dubowitz 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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