DSD
MCID: DPH019
MIFTS: 41

Diaphanospondylodysostosis (DSD)

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

Aliases & Classifications for Diaphanospondylodysostosis

MalaCards integrated aliases for Diaphanospondylodysostosis:

Name: Diaphanospondylodysostosis 56 58 73 36 29 13 6 39 71
Vertebral Ossification, Defect in, with Nephrogenic Rests 56
Defect in Vertebral Ossification with Nephrogenic Rests 73
Dsd 73

Characteristics:

Orphanet epidemiological data:

58
diaphanospondylodysostosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
majority of patients die in neonatal period secondary to respiratory insufficiency


HPO:

31
diaphanospondylodysostosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Diaphanospondylodysostosis

KEGG : 36 Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. It is one of a number of spinal dysostoses, which are a heterogeneous group of axial skeletal malformations occurring during blastogenesis with continued evolution after birth. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. The spine is most prominently affected, with diaphanous, that is, translucent vertebrae, due to abnormal vertebral ossification and segmentation. A consistent feature of all described DSD cases are renal findings of dysplasia, nephrogenic rests or nephroblastomatosis, or cysts. It has been determined that DSD is due to mutations in the BMPER gene, which encodes the bone morphogenetic protein-binding endothelial cell precursor-derived regulator.

MalaCards based summary : Diaphanospondylodysostosis, also known as vertebral ossification, defect in, with nephrogenic rests, is related to 46,xx sex reversal 1 and 46, xy disorders of sexual development. An important gene associated with Diaphanospondylodysostosis is BMPER (BMP Binding Endothelial Regulator). Affiliated tissues include kidney, bone and endothelial, and related phenotypes are short neck and short thorax

OMIM : 56 Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases (summary by Funari et al., 2010). (608022)

UniProtKB/Swiss-Prot : 73 Diaphanospondylodysostosis: A rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, a depressed nasal bridge with a short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases.

Related Diseases for Diaphanospondylodysostosis

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

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 46,xx sex reversal 1 12.2
2 46, xy disorders of sexual development 12.1
3 disorders of sexual development 12.0
4 syndrome with 46,xy disorder of sex development 11.6
5 leydig cell hypoplasia 11.5
6 leydig cell hypoplasia, type i 11.5
7 46,xy sex reversal 11.5
8 sex chromosome disorder of sex development 11.4
9 46,xx sex reversal 11.4
10 nonsyndromic 46,xx testicular disorders of sex development 11.4
11 46,xy ovotesticular disorder of sex development 11.4
12 denys-drash syndrome 11.4
13 46,xy disorder of sex development due to impaired androgen production 11.4
14 hypogonadotropic hypogonadism 23 without anosmia 11.3
15 hypertrophic neuropathy of dejerine-sottas 11.3
16 premature ovarian failure 7 11.3
17 46,xx disorder of sex development 11.2
18 syndrome with disorder of sex development of gynecological interest 11.2
19 campomelic dysplasia 11.2
20 pseudovaginal perineoscrotal hypospadias 11.0
21 genetic 46,xx disorder of sex development 11.0
22 genetic disorder of sex development 11.0
23 genetic 46,xy disorder of sex development of endocrine origin 11.0
24 genetic 46,xy disorder of sex development 11.0
25 genetic disorder of sex development of gynecological interest 11.0
26 46,xy disorder of sex development of gynecological interest 11.0
27 46,xy disorder of sex development due to a cholesterol synthesis defect 11.0
28 46,xy disorder of sex development induced by maternal exposure to endocrine disruptors 11.0
29 46,xy disorder of sex development of endocrine origin 11.0
30 46,xx disorder of sex development induced by exogenous maternal-derived androgen 11.0
31 46,xx disorder of sex development induced by endogenous maternal-derived androgen 11.0
32 46,xx disorder of sex development induced by fetoplacental androgens excess 11.0
33 46,xy disorder of sex development due to testicular steroidogenesis defect 11.0
34 46,xy disorder of sex development due to adrenal and testicular steroidogenesis defect 11.0
35 46,xy disorder of sex development due to a testosterone synthesis defect 11.0
36 46,xx disorder of sex development induced by fetal androgens excess 11.0
37 46,xx disorder of sex development induced by maternal-derived androgen 11.0
38 46,xx disorder of sex development induced by androgens excess 11.0
39 gonadal dysgenesis 10.7
40 lipoid congenital adrenal hyperplasia 10.6
41 androgen insensitivity syndrome 10.6
42 hypospadias 10.6
43 turner syndrome 10.4
44 androgen insensitivity, partial 10.4
45 complete androgen insensitivity syndrome 10.4
46 gonadoblastoma 10.4
47 dysostosis 10.4
48 cryptorchidism, unilateral or bilateral 10.3
49 mixed gonadal dysgenesis 10.3
50 hypogonadism 10.3

Graphical network of the top 20 diseases related to Diaphanospondylodysostosis:



Diseases related to Diaphanospondylodysostosis

Symptoms & Phenotypes for Diaphanospondylodysostosis

Human phenotypes related to Diaphanospondylodysostosis:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
3 enlarged thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0100625
4 multiple renal cysts 58 31 hallmark (90%) Very frequent (99-80%) HP:0005562
5 missing ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000921
6 narrow pelvis bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003275
7 abnormal vertebral segmentation and fusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0005640
8 respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002098
9 myelomeningocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002475
10 absent or minimally ossified vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0004599
11 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
12 global developmental delay 31 HP:0001263
13 depressed nasal bridge 31 HP:0005280
14 inguinal hernia 31 HP:0000023
15 hypertelorism 31 HP:0000316
16 short nose 31 HP:0003196
17 disproportionate short-trunk short stature 31 HP:0003521
18 intrauterine growth retardation 31 HP:0001511
19 micrognathia 31 HP:0000347
20 low-set ears 31 HP:0000369
21 webbed neck 31 HP:0000465
22 epicanthus 31 HP:0000286
23 respiratory insufficiency 31 HP:0002093
24 talipes equinovarus 31 HP:0001762
25 depressed nasal ridge 31 HP:0000457
26 vertebral segmentation defect 31 HP:0003422
27 increased nuchal translucency 31 HP:0010880
28 large fontanelles 31 HP:0000239
29 polymicrogyria 31 HP:0002126
30 tracheomalacia 31 HP:0002779
31 hypoplastic fingernail 31 HP:0001804
32 enlarged kidney 31 HP:0000105
33 oligohydramnios 31 HP:0001562
34 hammertoe 31 HP:0001765
35 pulmonary hypoplasia 31 HP:0002089
36 thoracic hypoplasia 31 HP:0005257
37 protuberant abdomen 31 HP:0001538
38 generalized hypotonia 31 HP:0001290
39 bell-shaped thorax 31 HP:0001591
40 abnormal liver lobulation 31 HP:0100752
41 cystic renal dysplasia 31 HP:0000800
42 unossified sacrum 31 HP:0030290
43 nephroblastomatosis 31 HP:0008643
44 nephrogenic rest 31 HP:0100880
45 lumbosacral meningocele 31 HP:0200133
46 absent in utero rib ossification 31 HP:0006615
47 absent in utero ossification of vertebral bodies 31 HP:0008435

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
short nose
flat nose

Head And Neck Eyes:
hypertelorism
epicanthal folds

Head And Neck Mouth:
cleft palate

Head And Neck Face:
micrognathia

Head And Neck Head:
large fontanelles

Respiratory Airways:
tracheomalacia

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Abdomen External Features:
protuberant abdomen

Skeletal Spine:
unossified sacrum
absent in utero ossification of vertebral bodies
vertebral segmentation defects
zipper-like pedicles
delayed ossification of pedicles
more
Skin Nails Hair Nails:
hypoplastic fingernails

Skeletal Pelvis:
narrow pelvis
downward tilt of pubic rami

Prenatal Manifestations:
nuchal translucency

Abdomen Liver:
trilobed liver

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Neck:
short neck
webbed neck

Growth Other:
intrauterine growth retardation

Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
polymicrogyria
lumbosacral meningocele
hypotonia
developmental delay

Chest Ribs Sternum Clavicles And Scapulae:
missing ribs
absent in utero rib ossification
ribbon-like ribs
posterior gaps in ribs

Chest External Features:
thoracic hypoplasia
bell-shaped thorax
short trunk

Genitourinary Kidneys:
cystic renal dysplasia
nephroblastomatosis
enlarged kidneys
intralobular nephrogenic rests

Skeletal Hands:
hypoplastic fingernails

Skeletal Feet:
clubfeet
hammer toe

Respiratory Lung:
hypoplastic lungs

Respiratory:
respiratory distress/insufficiency

Clinical features from OMIM:

608022

MGI Mouse Phenotypes related to Diaphanospondylodysostosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.26 BMPER MEOX1 PAX1 PKD1L1
2 limbs/digits/tail MP:0005371 8.8 BMPER MEOX1 PAX1

Drugs & Therapeutics for Diaphanospondylodysostosis

Search Clinical Trials , NIH Clinical Center for Diaphanospondylodysostosis

Genetic Tests for Diaphanospondylodysostosis

Genetic tests related to Diaphanospondylodysostosis:

# Genetic test Affiliating Genes
1 Diaphanospondylodysostosis 29 BMPER

Anatomical Context for Diaphanospondylodysostosis

MalaCards organs/tissues related to Diaphanospondylodysostosis:

40
Kidney, Bone, Endothelial, Liver, Lung

Publications for Diaphanospondylodysostosis

Articles related to Diaphanospondylodysostosis:

(show all 13)
# Title Authors PMID Year
1
Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder. 6 61 56
30006055 2019
2
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. 61 56 6
20869035 2010
3
Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1. 56 61
17764081 2007
4
Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis. 56 61
15988748 2005
5
A newly recognized autosomal recessive syndrome with abnormal vertebral ossification, rib abnormalities, and nephrogenic rests. 56
12838560 2003
6
A new syndrome comprising vertebral anomalies and multicystic kidneys. 56
10457849 1999
7
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report. 61
29445489 2018
8
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. 61
28815954 2017
9
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. 61
26728142 2016
10
BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis. 61
26467725 2015
11
Development of anaplastic Wilms tumor and subsequent relapse in a child with diaphanospondylodysostosis. 61
22469945 2012
12
Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics. 61
22581610 2012
13
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). 61
21990102 2011

Variations for Diaphanospondylodysostosis

ClinVar genetic disease variations for Diaphanospondylodysostosis:

6 (show top 50) (show all 120) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPER NM_001365308.1(BMPER):c.925C>T (p.Gln309Ter)SNV Pathogenic 30742 rs387906992 7:34094913-34094913 7:34055301-34055301
2 BMPER BMPER, 10-BP DEL/14-BP INS, NT26indel Pathogenic 30743
3 BMPER BMPER, IVS11DS, G-A, +5SNV Pathogenic 30744
4 BMPER NM_001365308.1(BMPER):c.1109C>T (p.Pro370Leu)SNV Pathogenic 30745 rs387906993 7:34118499-34118499 7:34078887-34078887
5 BMPER NM_001365308.1(BMPER):c.1638T>A (p.Cys546Ter)SNV Pathogenic 30746 rs387906994 7:34125597-34125597 7:34085985-34085985
6 BMPER NM_001365308.1(BMPER):c.410T>A (p.Val137Asp)SNV Pathogenic/Likely pathogenic 559441 rs1554300601 7:34009948-34009948 7:33970336-33970336
7 BMPER NM_001365308.1(BMPER):c.1974G>A (p.Pro658=)SNV Conflicting interpretations of pathogenicity 791539 7:34192801-34192801 7:34153189-34153189
8 BMPER NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp)SNV Conflicting interpretations of pathogenicity 402429 rs144030074 7:33976901-33976901 7:33937289-33937289
9 BMPER NM_001365308.1(BMPER):c.1087G>A (p.Val363Ile)SNV Conflicting interpretations of pathogenicity 389174 rs117322489 7:34118477-34118477 7:34078865-34078865
10 BMPER NM_001365308.1(BMPER):c.*1482_*1483deldeletion Uncertain significance 360143 rs5883454 7:34194352-34194353 7:34154740-34154741
11 BMPER NM_001365308.1(BMPER):c.*1554A>CSNV Uncertain significance 360145 rs185967190 7:34194439-34194439 7:34154827-34154827
12 BMPER NM_001365308.1(BMPER):c.*2100C>ASNV Uncertain significance 360151 rs886062307 7:34194985-34194985 7:34155373-34155373
13 BMPER NM_001365308.1(BMPER):c.*609G>ASNV Uncertain significance 360128 rs561470559 7:34193494-34193494 7:34153882-34153882
14 BMPER NM_133468.5(BMPER):c.-192G>ASNV Uncertain significance 360089 rs886062290 7:33944705-33944705 7:33905093-33905093
15 BMPER NM_001365308.1(BMPER):c.115G>T (p.Ala39Ser)SNV Uncertain significance 360096 rs886062295 7:33945340-33945340 7:33905728-33905728
16 BMPER NM_001365308.1(BMPER):c.1003C>A (p.Gln335Lys)SNV Uncertain significance 360106 rs886062297 7:34097746-34097746 7:34058134-34058134
17 BMPER NM_001365308.1(BMPER):c.*1396A>GSNV Uncertain significance 360140 rs567401735 7:34194281-34194281 7:34154669-34154669
18 BMPER NM_001365308.1(BMPER):c.*1411G>ASNV Uncertain significance 360141 rs886062301 7:34194296-34194296 7:34154684-34154684
19 BMPER NM_001365308.1(BMPER):c.*1424A>GSNV Uncertain significance 360142 rs569107815 7:34194309-34194309 7:34154697-34154697
20 BMPER NM_001365308.1(BMPER):c.*1878C>GSNV Uncertain significance 360148 rs886062305 7:34194763-34194763 7:34155151-34155151
21 BMPER NM_001365308.1(BMPER):c.*1929dupduplication Uncertain significance 360149 rs886062306 7:34194810-34194811 7:34155198-34155199
22 BMPER NM_001365308.1(BMPER):c.*564T>CSNV Uncertain significance 360127 rs181365229 7:34193449-34193449 7:34153837-34153837
23 BMPER NM_133468.5(BMPER):c.-190C>TSNV Uncertain significance 360090 rs886062291 7:33944707-33944707 7:33905095-33905095
24 BMPER NM_133468.5(BMPER):c.-160G>ASNV Uncertain significance 360091 rs886062292 7:33944737-33944737 7:33905125-33905125
25 BMPER NM_001365308.1(BMPER):c.1460C>T (p.Pro487Leu)SNV Uncertain significance 360111 rs115364786 7:34125419-34125419 7:34085807-34085807
26 BMPER NM_001365308.1(BMPER):c.1978G>A (p.Val660Ile)SNV Uncertain significance 360119 rs376351419 7:34192805-34192805 7:34153193-34153193
27 BMPER NM_001365308.1(BMPER):c.1818C>A (p.Thr606=)SNV Uncertain significance 360116 rs138797097 7:34182914-34182914 7:34143302-34143302
28 BMPER NM_001365308.1(BMPER):c.*677C>TSNV Uncertain significance 360130 rs780769567 7:34193562-34193562 7:34153950-34153950
29 BMPER NM_001365308.1(BMPER):c.*678G>ASNV Uncertain significance 360131 rs77835415 7:34193563-34193563 7:34153951-34153951
30 BMPER NM_001365308.1(BMPER):c.*767C>TSNV Uncertain significance 360134 rs886062299 7:34193652-34193652 7:34154040-34154040
31 BMPER NM_001365308.1(BMPER):c.*1071A>GSNV Uncertain significance 360136 rs886062300 7:34193956-34193956 7:34154344-34154344
32 BMPER NM_001365308.1(BMPER):c.254C>T (p.Pro85Leu)SNV Uncertain significance 360098 rs142205105 7:33976935-33976935 7:33937323-33937323
33 BMPER NM_001365308.1(BMPER):c.372G>A (p.Pro124=)SNV Uncertain significance 360099 rs750265350 7:34006143-34006143 7:33966531-33966531
34 BMPER NM_001365308.1(BMPER):c.406G>A (p.Gly136Ser)SNV Uncertain significance 360100 rs886062296 7:34009944-34009944 7:33970332-33970332
35 BMPER NM_133468.5(BMPER):c.-141+9T>ASNV Uncertain significance 360093 rs886062293 7:33944765-33944765 7:33905153-33905153
36 BMPER NM_001365308.1(BMPER):c.857G>T (p.Cys286Phe)SNV Uncertain significance 360105 rs765544595 7:34094845-34094845 7:34055233-34055233
37 BMPER NM_001365308.1(BMPER):c.*1667G>CSNV Uncertain significance 360146 rs886062304 7:34194552-34194552 7:34154940-34154940
38 BMPER NM_001365308.1(BMPER):c.1207G>A (p.Val403Met)SNV Uncertain significance 360108 rs371160820 7:34118597-34118597 7:34078985-34078985
39 BMPER NM_001365308.1(BMPER):c.1248G>A (p.Ser416=)SNV Uncertain significance 360109 rs199800567 7:34118638-34118638 7:34079026-34079026
40 BMPER NM_001365308.1(BMPER):c.1323C>T (p.Asn441=)SNV Uncertain significance 360110 rs781214057 7:34118713-34118713 7:34079101-34079101
41 BMPER NM_001365308.1(BMPER):c.1724T>C (p.Val575Ala)SNV Uncertain significance 360114 rs760584340 7:34125683-34125683 7:34086071-34086071
42 BMPER NM_001365308.1(BMPER):c.1927A>T (p.Ile643Phe)SNV Uncertain significance 360117 rs528093648 7:34192754-34192754 7:34153142-34153142
43 BMPER NM_133468.5(BMPER):c.-108G>ASNV Uncertain significance 360094 rs886062294 7:33945118-33945118 7:33905506-33905506
44 BMPER NM_001365308.1(BMPER):c.*52C>TSNV Uncertain significance 360121 rs370654591 7:34192937-34192937 7:34153325-34153325
45 BMPER NM_001365308.1(BMPER):c.*123_*128deldeletion Uncertain significance 360122 rs886062298 7:34193005-34193010 7:34153393-34153398
46 BMPER NM_001365308.1(BMPER):c.*617G>ASNV Uncertain significance 360129 rs184793018 7:34193502-34193502 7:34153890-34153890
47 BMPER NM_001365308.1(BMPER):c.*1484deldeletion Uncertain significance 360144 rs886062303 7:34194369-34194369 7:34154757-34154757
48 BMPER NM_001365308.1(BMPER):c.*2067A>TSNV Uncertain significance 360150 rs879563289 7:34194952-34194952 7:34155340-34155340
49 BMPER NM_001365308.1(BMPER):c.*2170A>GSNV Uncertain significance 360152 rs886062308 7:34195055-34195055 7:34155443-34155443
50 BMPER NM_001365308.1(BMPER):c.*2277T>GSNV Uncertain significance 360154 rs886062309 7:34195162-34195162 7:34155550-34155550

UniProtKB/Swiss-Prot genetic disease variations for Diaphanospondylodysostosis:

73
# Symbol AA change Variation ID SNP ID
1 BMPER p.Pro370Leu VAR_065823 rs387906993

Expression for Diaphanospondylodysostosis

Search GEO for disease gene expression data for Diaphanospondylodysostosis.

Pathways for Diaphanospondylodysostosis

GO Terms for Diaphanospondylodysostosis

Biological processes related to Diaphanospondylodysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sclerotome development GO:0061056 8.62 PAX1 MEOX1

Sources for Diaphanospondylodysostosis

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
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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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