MCID: BHR002
MIFTS: 43

Bohring-Opitz Syndrome

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

Aliases & Classifications for Bohring-Opitz Syndrome

MalaCards integrated aliases for Bohring-Opitz Syndrome:

Name: Bohring-Opitz Syndrome 57 24 53 25 59 75 37 13 40
C-Like Syndrome 57 53 25 59 75 29 6
Bohring Syndrome 57 53 25 59 75 73
Opitz Trigonocephaly-Like Syndrome 57 53 25 59 75
Oberklaid-Danks Syndrome 24 25 59
Bops 57 25 75
Bos Syndrome 53 59

Characteristics:

Orphanet epidemiological data:

59
bohring-opitz syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
all reported cases have occurred de novo
death often occurs in childhood


HPO:

32
bohring-opitz syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Bohring-Opitz Syndrome

OMIM : 57 Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints (summary by Hoischen et al., 2011). See also the C syndrome (211750), a disorder with a similar phenotype caused by heterozygous mutation in the CD96 gene (606037) on chromosome 3q13. (605039)

MalaCards based summary : Bohring-Opitz Syndrome, also known as c-like syndrome, is related to branchiootic syndrome 1 and branchiootorenal/branchiootic syndrome, and has symptoms including seizures and ulnar deviation of the wrist. An important gene associated with Bohring-Opitz Syndrome is ASXL1 (ASXL Transcriptional Regulator 1). Affiliated tissues include brain, testes and pancreas, and related phenotypes are hypertelorism and low-set ears

Genetics Home Reference : 25 Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body.

NIH Rare Diseases : 53 Bohring-Opitz syndrome is a rare genetic condition characterized by intrauterine growth restriction (IUGR), failure to thrive, sleep apnea, developmental delay, hypotonia, flexion of the elbows and wrists, excessive hair growth, Wilm's tumor, microcephaly, brain malformations, and distinctive facial features. The condition is caused by mutations in the ASXL1 gene. The inheritance of Bohring-Opitz syndrome remains unknown, as nearly all cases to date have occurred sporadically. 

UniProtKB/Swiss-Prot : 75 Bohring-Opitz syndrome: A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.

Wikipedia : 76 Bohring–Opitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1 gene. It is... more...

GeneReviews: NBK481833

Related Diseases for Bohring-Opitz Syndrome

Graphical network of the top 20 diseases related to Bohring-Opitz Syndrome:



Diseases related to Bohring-Opitz Syndrome

Symptoms & Phenotypes for Bohring-Opitz Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
myopia
upslanting palpebral fissures
prominent eyes
more
Neurologic Central Nervous System:
seizures
dandy-walker malformation
developmental delay
hypotonia
agenesis of the corpus callosum
more
Head And Neck Mouth:
narrow palate
cleft palate
broad alveolar ridges
cleft lip

Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Skull:
prominent metopic ridge
hypoplastic orbital ridges

Skeletal Feet:
deep plantar creases
short toes
overriding toes

Skin Nails Hair Hair:
hirsutism
thick hair
low frontal hairline
long hair

Head And Neck Nose:
broad nasal bridge

Abdomen Gastrointestinal:
poor feeding
malrotation
severe gastroesophageal reflux

Abdomen Pancreas:
hyperechogenic pancreas

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Head:
microcephaly
trigonocephaly

Head And Neck Face:
prominent forehead
micrognathia
retrognathia
long face
facial hemangioma
more
Genitourinary Ureters:
vesicoureteral reflux

Skin Nails Hair Skin:
sacral dimple
nevi flammei (philtrum, nape of neck, forehead)

Chest Breasts:
supernumerary nipple
widely spaced nipples

Skeletal Hands:
camptodactyly
syndactyly
tapered fingers
deep palmar creases
broad hands
more
Neurologic Peripheral Nervous System:
delayed myelination

Skeletal Limbs:
radial head dislocation
upper limb rhizomelia
unusual upper limb position (elbow and wrist flexion)
ulnar deviation of the wrists

Skeletal:
contractures
dislocations


Clinical features from OMIM:

605039

Human phenotypes related to Bohring-Opitz Syndrome:

59 32 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
6 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
11 retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000488
12 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
13 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
14 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
15 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
16 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
17 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
18 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
19 platyspondyly 59 32 frequent (33%) Frequent (79-30%) HP:0000926
20 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
21 short foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001773
22 short thorax 59 32 frequent (33%) Frequent (79-30%) HP:0010306
23 biparietal narrowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0004422
24 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
25 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610
26 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
27 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
28 abnormality of the kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000077
29 abnormality of the pancreas 59 32 frequent (33%) Frequent (79-30%) HP:0001732
30 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
31 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
32 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
33 intestinal malrotation 59 32 frequent (33%) Frequent (79-30%) HP:0002566
34 low anterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0000294
35 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
36 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
37 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
38 ulnar deviation of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009465
39 cleft upper lip 59 32 frequent (33%) Frequent (79-30%) HP:0000204
40 synophrys 59 32 frequent (33%) Frequent (79-30%) HP:0000664
41 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001305
42 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
43 prominent metopic ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005487
44 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
45 underdeveloped supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0009891
46 trigonocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000243
47 supernumerary nipple 59 32 frequent (33%) Frequent (79-30%) HP:0002558
48 nevus flammeus of the forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0007413
49 accessory oral frenulum 59 32 frequent (33%) Frequent (79-30%) HP:0000191
50 thick hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0100874

UMLS symptoms related to Bohring-Opitz Syndrome:


seizures, ulnar deviation of the wrist

Drugs & Therapeutics for Bohring-Opitz Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Bohring-Opitz Syndrome

Genetic Tests for Bohring-Opitz Syndrome

Genetic tests related to Bohring-Opitz Syndrome:

# Genetic test Affiliating Genes
1 C-Like Syndrome 29 ASXL1

Anatomical Context for Bohring-Opitz Syndrome

MalaCards organs/tissues related to Bohring-Opitz Syndrome:

41
Brain, Testes, Pancreas, Kidney, Heart, Eye

Publications for Bohring-Opitz Syndrome

Articles related to Bohring-Opitz Syndrome:

(show all 18)
# Title Authors Year
1
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome. ( 29681105 )
2018
2
Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother. ( 29681100 )
2018
3
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. ( 28229513 )
2017
4
Bohring-opitz syndrome - A case of a rare genetic disorder. ( 28889139 )
2017
5
A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome. ( 27043953 )
2016
6
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. ( 26768331 )
2016
7
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. ( 25921057 )
2015
8
Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. ( 26364555 )
2015
9
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. ( 23383720 )
2013
10
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. ( 22419483 )
2012
11
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. ( 21706002 )
2011
12
A case of probable Bohring-Opitz syndrome with medulloblastoma. ( 20717007 )
2010
13
Evolution of a patient with Bohring-Opitz syndrome. ( 19606480 )
2009
14
Infantile high myopia in Bohring-Opitz syndrome. ( 17498985 )
2007
15
New cases of Bohring-Opitz syndrome, update, and critical review of the literature. ( 16691589 )
2006
16
Siblings with Bohring-Opitz syndrome. ( 12514360 )
2003
17
Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example. ( 10861668 )
2000
18
Bohring-Opitz Syndrome ( 29446906 )
1993

Variations for Bohring-Opitz Syndrome

ClinVar genetic disease variations for Bohring-Opitz Syndrome:

6
(show top 50) (show all 192)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASXL1 NM_015338.5(ASXL1): c.2773C> T (p.Gln925Ter) single nucleotide variant Pathogenic rs387907077 GRCh37 Chromosome 20, 31023288: 31023288
2 ASXL1 NM_015338.5(ASXL1): c.2773C> T (p.Gln925Ter) single nucleotide variant Pathogenic rs387907077 GRCh38 Chromosome 20, 32435485: 32435485
3 ASXL1 NM_015338.5(ASXL1): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs373145711 GRCh37 Chromosome 20, 31021211: 31021211
4 ASXL1 NM_015338.5(ASXL1): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs373145711 GRCh38 Chromosome 20, 32433408: 32433408
5 ASXL1 NM_015338.5(ASXL1): c.3083C> A (p.Ser1028Ter) single nucleotide variant Pathogenic rs200702600 GRCh37 Chromosome 20, 31023598: 31023598
6 ASXL1 NM_015338.5(ASXL1): c.3083C> A (p.Ser1028Ter) single nucleotide variant Pathogenic rs200702600 GRCh38 Chromosome 20, 32435795: 32435795
7 ASXL1 ASLX1, 1-BP DUP, NT2535 duplication Pathogenic
8 ASXL1 NM_015338.5(ASXL1): c.2197C> T (p.Gln733Ter) single nucleotide variant Pathogenic rs387907078 GRCh37 Chromosome 20, 31022712: 31022712
9 ASXL1 NM_015338.5(ASXL1): c.2197C> T (p.Gln733Ter) single nucleotide variant Pathogenic rs387907078 GRCh38 Chromosome 20, 32434909: 32434909
10 ASXL1 ASLX1, 5-BP DEL, NT2407 deletion Pathogenic
11 ASXL1 NM_015338.5(ASXL1): c.2893C> T (p.Arg965Ter) single nucleotide variant Pathogenic rs397515401 GRCh37 Chromosome 20, 31023408: 31023408
12 ASXL1 NM_015338.5(ASXL1): c.2893C> T (p.Arg965Ter) single nucleotide variant Pathogenic rs397515401 GRCh38 Chromosome 20, 32435605: 32435605
13 ASXL1 NM_015338.5(ASXL1): c.3519G> A (p.Leu1173=) single nucleotide variant Benign rs117901891 GRCh37 Chromosome 20, 31024034: 31024034
14 ASXL1 NM_015338.5(ASXL1): c.3519G> A (p.Leu1173=) single nucleotide variant Benign rs117901891 GRCh38 Chromosome 20, 32436231: 32436231
15 ASXL1 NM_015338.5(ASXL1): c.1162_1163delGT (p.Val388Profs) deletion Likely pathogenic rs886043994 GRCh37 Chromosome 20, 31021163: 31021164
16 ASXL1 NM_015338.5(ASXL1): c.1162_1163delGT (p.Val388Profs) deletion Likely pathogenic rs886043994 GRCh38 Chromosome 20, 32433360: 32433361
17 ASXL1 NM_015338.5(ASXL1): c.-392G> A single nucleotide variant Uncertain significance rs886056584 GRCh37 Chromosome 20, 30946187: 30946187
18 ASXL1 NM_015338.5(ASXL1): c.-392G> A single nucleotide variant Uncertain significance rs886056584 GRCh38 Chromosome 20, 32358384: 32358384
19 ASXL1 NM_015338.5(ASXL1): c.-221C> T single nucleotide variant Uncertain significance rs886056588 GRCh37 Chromosome 20, 30946358: 30946358
20 ASXL1 NM_015338.5(ASXL1): c.-221C> T single nucleotide variant Uncertain significance rs886056588 GRCh38 Chromosome 20, 32358555: 32358555
21 ASXL1 NM_015338.5(ASXL1): c.-94C> G single nucleotide variant Uncertain significance rs886056591 GRCh38 Chromosome 20, 32358682: 32358682
22 ASXL1 NM_015338.5(ASXL1): c.-94C> G single nucleotide variant Uncertain significance rs886056591 GRCh37 Chromosome 20, 30946485: 30946485
23 ASXL1 NM_015338.5(ASXL1): c.1336G> A (p.Val446Ile) single nucleotide variant Uncertain significance rs376229687 GRCh38 Chromosome 20, 32433534: 32433534
24 ASXL1 NM_015338.5(ASXL1): c.1336G> A (p.Val446Ile) single nucleotide variant Uncertain significance rs376229687 GRCh37 Chromosome 20, 31021337: 31021337
25 ASXL1 NM_015338.5(ASXL1): c.2247C> T (p.Leu749=) single nucleotide variant Uncertain significance rs772526658 GRCh37 Chromosome 20, 31022762: 31022762
26 ASXL1 NM_015338.5(ASXL1): c.2247C> T (p.Leu749=) single nucleotide variant Uncertain significance rs772526658 GRCh38 Chromosome 20, 32434959: 32434959
27 ASXL1 NM_015338.5(ASXL1): c.2985C> T (p.His995=) single nucleotide variant Benign rs62206933 GRCh37 Chromosome 20, 31023500: 31023500
28 ASXL1 NM_015338.5(ASXL1): c.2985C> T (p.His995=) single nucleotide variant Benign rs62206933 GRCh38 Chromosome 20, 32435697: 32435697
29 ASXL1 NM_015338.5(ASXL1): c.3360G> A (p.Lys1120=) single nucleotide variant Uncertain significance rs886056602 GRCh37 Chromosome 20, 31023875: 31023875
30 ASXL1 NM_015338.5(ASXL1): c.3360G> A (p.Lys1120=) single nucleotide variant Uncertain significance rs886056602 GRCh38 Chromosome 20, 32436072: 32436072
31 ASXL1 NM_015338.5(ASXL1): c.*547C> T single nucleotide variant Uncertain significance rs886056605 GRCh37 Chromosome 20, 31025688: 31025688
32 ASXL1 NM_015338.5(ASXL1): c.3513G> A (p.Arg1171=) single nucleotide variant Likely benign rs150391716 GRCh38 Chromosome 20, 32436225: 32436225
33 ASXL1 NM_015338.5(ASXL1): c.3513G> A (p.Arg1171=) single nucleotide variant Likely benign rs150391716 GRCh37 Chromosome 20, 31024028: 31024028
34 ASXL1 NM_015338.5(ASXL1): c.3776C> T (p.Pro1259Leu) single nucleotide variant Likely benign rs201338763 GRCh38 Chromosome 20, 32436488: 32436488
35 ASXL1 NM_015338.5(ASXL1): c.3776C> T (p.Pro1259Leu) single nucleotide variant Likely benign rs201338763 GRCh37 Chromosome 20, 31024291: 31024291
36 ASXL1 NM_015338.5(ASXL1): c.4099G> A (p.Val1367Ile) single nucleotide variant Uncertain significance rs147456014 GRCh38 Chromosome 20, 32436811: 32436811
37 ASXL1 NM_015338.5(ASXL1): c.4099G> A (p.Val1367Ile) single nucleotide variant Uncertain significance rs147456014 GRCh37 Chromosome 20, 31024614: 31024614
38 ASXL1 NM_015338.5(ASXL1): c.*394A> G single nucleotide variant Benign rs2295762 GRCh38 Chromosome 20, 32437732: 32437732
39 ASXL1 NM_015338.5(ASXL1): c.*394A> G single nucleotide variant Benign rs2295762 GRCh37 Chromosome 20, 31025535: 31025535
40 ASXL1 NM_015338.5(ASXL1): c.*547C> T single nucleotide variant Uncertain significance rs886056605 GRCh38 Chromosome 20, 32437885: 32437885
41 ASXL1 NM_015338.5(ASXL1): c.-282C> T single nucleotide variant Likely benign rs530763476 GRCh37 Chromosome 20, 30946297: 30946297
42 ASXL1 NM_015338.5(ASXL1): c.-282C> T single nucleotide variant Likely benign rs530763476 GRCh38 Chromosome 20, 32358494: 32358494
43 ASXL1 NM_015338.5(ASXL1): c.-239C> G single nucleotide variant Uncertain significance rs886056586 GRCh37 Chromosome 20, 30946340: 30946340
44 ASXL1 NM_015338.5(ASXL1): c.-239C> G single nucleotide variant Uncertain significance rs886056586 GRCh38 Chromosome 20, 32358537: 32358537
45 ASXL1 NM_015338.5(ASXL1): c.-178C> G single nucleotide variant Uncertain significance rs886056589 GRCh37 Chromosome 20, 30946401: 30946401
46 ASXL1 NM_015338.5(ASXL1): c.-178C> G single nucleotide variant Uncertain significance rs886056589 GRCh38 Chromosome 20, 32358598: 32358598
47 ASXL1 NM_015338.5(ASXL1): c.-79_-77dupGCC duplication Uncertain significance rs886056593 GRCh38 Chromosome 20, 32358697: 32358699
48 ASXL1 NM_015338.5(ASXL1): c.-79_-77dupGCC duplication Uncertain significance rs886056593 GRCh37 Chromosome 20, 30946500: 30946502
49 ASXL1 NM_015338.5(ASXL1): c.25_27delAAG (p.Lys9del) deletion Likely benign rs886056596 GRCh38 Chromosome 20, 32358800: 32358802
50 ASXL1 NM_015338.5(ASXL1): c.25_27delAAG (p.Lys9del) deletion Likely benign rs886056596 GRCh37 Chromosome 20, 30946603: 30946605

Expression for Bohring-Opitz Syndrome

Search GEO for disease gene expression data for Bohring-Opitz Syndrome.

Pathways for Bohring-Opitz Syndrome

GO Terms for Bohring-Opitz Syndrome

Cellular components related to Bohring-Opitz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.96 ASXL1 ASXL3
2 PR-DUB complex GO:0035517 8.62 ASXL1 ASXL3

Biological processes related to Bohring-Opitz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 8.62 ASXL1 ASXL3

Molecular functions related to Bohring-Opitz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.96 ASXL1 ASXL3
2 peroxisome proliferator activated receptor binding GO:0042975 8.62 ASXL1 ASXL3

Sources for Bohring-Opitz Syndrome

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11 DGIdb
17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
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