OSCS
MCID: OST022
MIFTS: 45

Osteopathia Striata with Cranial Sclerosis (OSCS)

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

Aliases & Classifications for Osteopathia Striata with Cranial Sclerosis

MalaCards integrated aliases for Osteopathia Striata with Cranial Sclerosis:

Name: Osteopathia Striata with Cranial Sclerosis 58 12 76 38 30 13 6 15 41
Hyperostosis Generalisata with Striations 58 12 54 60 76
Robinow-Unger Syndrome 12 54 60 76
Osteopathia Striata Cranial Sclerosis 54 45 74
Oscs 58 54 76
Osteopathia Striata-Cranial Sclerosis Syndrome 54 60
Osteopathia Striata - Cranial Sclerosis 54
Voorhoeve Disease 54
Osc 17

Characteristics:

Orphanet epidemiological data:

60
osteopathia striata-cranial sclerosis syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Miscellaneous:
one-third of cases are sporadic
increased morbidity/mortality in affected males
onset of linear striations between 5 months and 6 years (only in affected females)

Inheritance:
x-linked dominant


HPO:

33
osteopathia striata with cranial sclerosis:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Osteopathia Striata with Cranial Sclerosis

OMIM : 58 Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae (Jenkins et al., 2009). In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability due to pressure on cranial nerves, e.g., deafness. Osteopathia striata is a frequent feature of focal dermal hypoplasia (FDH; 305600). Although early reports of familial cases of this disorder appeared to suggest autosomal dominant inheritance (see, e.g., Horan and Beighton, 1978 and Konig et al., 1996), reappraisal of the literature (Behninger and Rott, 2000; Rott et al., 2003) and the finding of a molecular basis for the disorder by Jenkins et al. (2009) confirms that the inheritance pattern is X-linked dominant. Affected males who survive have a more severe phenotype than affected females, and sporadic male cases may result from somatic mosaicism (Behninger and Rott, 2000). (300373)

MalaCards based summary : Osteopathia Striata with Cranial Sclerosis, also known as hyperostosis generalisata with striations, is related to hyperostosis and cleft palate, isolated, and has symptoms including apnea and headache. An important gene associated with Osteopathia Striata with Cranial Sclerosis is AMER1 (APC Membrane Recruitment Protein 1), and among its related pathways/superpathways are Colorectal Cancer Metastasis and MicroRNAs in cardiomyocyte hypertrophy. Affiliated tissues include bone, heart and eye, and related phenotypes are thickened calvaria and abnormality of the metaphysis

Disease Ontology : 12 An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has material basis in mutation in the AMER1 gene on chromosome Xq11.

NIH Rare Diseases : 54 Osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. The severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. Features of the condition are generally present at birth and may include skeletal abnormalities (particularly at the ends of long bones), sclerosis (hardening) of the craniofacial bones, macrocephaly (unusually large head size), and characteristic facial features. Some affected people may also have developmental delay, hearing loss, heart defects and/or ophthalmoplegia (paralysis of the muscles surrounding the eyes). Osteopathia striata cranial sclerosis is caused by changes (mutations) in the WTX gene and is inherited in an X-linked dominant manner. Treatment is based on the signs and symptoms present in each person.

UniProtKB/Swiss-Prot : 76 Osteopathia striata with cranial sclerosis: An X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, facial palsy, conductive hearing loss, mild learning disabilities, sclerosis of the long bones and skull. Longitudinal striations are visible on radiographs of the long bones, pelvis, and scapulae (osteopathia striata). In males this entity is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations.

Related Diseases for Osteopathia Striata with Cranial Sclerosis

Diseases related to Osteopathia Striata with Cranial Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 hyperostosis 10.5
2 cleft palate, isolated 10.3
3 wilms tumor 5 10.3
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
5 wilms tumor 6 10.3
6 spinal stenosis 10.3
7 osteomyelitis 10.3
8 hepatoblastoma 10.3
9 anxiety 10.3
10 substance abuse 10.3
11 celiac disease 1 10.0
12 disorganization, mouse, homolog of 10.0
13 liver cirrhosis 10.0
14 spondyloenchondrodysplasia 10.0
15 endosteal hyperostosis, autosomal dominant 9.7 AMER1 LRP5
16 camurati-engelmann disease 9.6 LRP5 TGFBR1

Graphical network of the top 20 diseases related to Osteopathia Striata with Cranial Sclerosis:



Diseases related to Osteopathia Striata with Cranial Sclerosis

Symptoms & Phenotypes for Osteopathia Striata with Cranial Sclerosis

Human phenotypes related to Osteopathia Striata with Cranial Sclerosis:

60 33 (show top 50) (show all 99)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thickened calvaria 60 33 hallmark (90%) Very frequent (99-80%) HP:0002684
2 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
3 large iliac wings 60 33 hallmark (90%) Very frequent (99-80%) HP:0008818
4 rough bone trabeculation 60 33 hallmark (90%) Very frequent (99-80%) HP:0100670
5 osteopetrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0011002
6 facial hyperostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005465
7 high iliac wings 60 33 hallmark (90%) Very frequent (99-80%) HP:0008808
8 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
9 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
10 scoliosis 60 33 very rare (1%) Frequent (79-30%) HP:0002650
11 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
12 prominent forehead 60 33 frequent (33%) Frequent (79-30%) HP:0011220
13 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684
14 high, narrow palate 60 33 frequent (33%) Frequent (79-30%) HP:0002705
15 conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000405
16 flat occiput 60 33 frequent (33%) Frequent (79-30%) HP:0005469
17 large fontanelles 60 33 frequent (33%) Frequent (79-30%) HP:0000239
18 bifid uvula 60 33 frequent (33%) Frequent (79-30%) HP:0000193
19 submucous cleft hard palate 60 33 frequent (33%) Frequent (79-30%) HP:0000176
20 delayed cranial suture closure 60 33 frequent (33%) Frequent (79-30%) HP:0000270
21 intellectual disability, mild 33 frequent (33%) HP:0001256
22 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
23 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
24 dysphasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002357
25 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
26 hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003307
27 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
28 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
29 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
30 brachycephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000248
31 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
32 retrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000278
33 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
34 flat face 60 33 occasional (7.5%) Occasional (29-5%) HP:0012368
35 specific learning disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001328
36 coarctation of aorta 60 33 occasional (7.5%) Occasional (29-5%) HP:0001680
37 aphasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002381
38 severe short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0003510
39 spina bifida occulta 60 33 occasional (7.5%) Occasional (29-5%) HP:0003298
40 aortic valve stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001650
41 asymmetry of the thorax 60 33 occasional (7.5%) Occasional (29-5%) HP:0001555
42 posteriorly rotated ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000358
43 echolalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0010529
44 mutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002300
45 headache 33 occasional (7.5%) HP:0002315
46 high palate 33 very rare (1%) HP:0000218
47 delayed speech and language development 33 very rare (1%) HP:0000750
48 multicystic kidney dysplasia 33 very rare (1%) HP:0000003
49 anal atresia 33 very rare (1%) HP:0002023
50 omphalocele 33 very rare (1%) HP:0001539

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
widened sutures
delayed closure of anterior fontanelle
large fontanelle

Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears
hearing loss, conductive
overfolded ears

Head And Neck Face:
frontal bossing
facial palsy
micrognathia
bitemporal narrowing

Skeletal Skull:
thickened calvaria
occipital bossing
sclerotic cranial base
sclerotic mastoids (31%)
cranial sclerosis
more
Head And Neck Mouth:
cleft palate
bifid uvula
cleft lip
pierre robin sequence (in males)
thick lips (in males)
more
Head And Neck Neck:
webbed neck

Respiratory:
apnea

Voice:
nasal speech

Respiratory Nasopharynx:
tracheomalacia
paranasal sinus hypoplasia

Respiratory Larynx:
laryngeal web

Head And Neck Teeth:
malocclusion
crowded teeth
natal teeth

Skeletal Limbs:
short fibulae
absent fibulae

Skeletal Feet:
toe contractures
club feet (in males)

Growth Other:
failure to thrive (in males)

Genitourinary Kidneys:
multicystic kidney (rare, in males)
nephrogenic rests (rare, in males)

Head And Neck Eyes:
hypertelorism
epicanthal folds

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
broad, flat ribs
long, straight clavicles
broad medial and lateral clavicles

Neurologic Central Nervous System:
hydrocephalus
headaches
speech delay (10%)
transitional facial palsy (15%)
hypotonia (in males)
more
Abdomen Gastrointestinal:
gastroesophageal reflux
intestinal malrotation (rare, in males)
anal stenosis (rare, in males)
anal atresia (rare, in males)

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
oligohydramnios

Skeletal Spine:
spina bifida occulta
thoracolumbar gibbus
scoliosis (23%)

Skeletal Hands:
camptodactyly
fifth finger clinodactyly
long, slender fingers
finger contractures
duplicate phalanges
more
Head And Neck Nose:
broad nasal bridge

Chest Breasts:
widely spaced nipples

Skeletal:
joint contractures
osteopathia striata (linear striations of long bone diametaphyses, only in females)
increased trabecular thickness seen on iliac bone biopsy

Growth Height:
short stature (in males)

Abdomen External Features:
omphalocele (rare, in males)

Muscle Soft Tissue:
nemaline myopathy (in 1 reported male)

Clinical features from OMIM:

300373

UMLS symptoms related to Osteopathia Striata with Cranial Sclerosis:


apnea, headache

MGI Mouse Phenotypes related to Osteopathia Striata with Cranial Sclerosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 8.92 AMER1 LRP5 TGFBR1 YARS

Drugs & Therapeutics for Osteopathia Striata with Cranial Sclerosis

Search Clinical Trials , NIH Clinical Center for Osteopathia Striata with Cranial Sclerosis

Cochrane evidence based reviews: osteopathia striata cranial sclerosis

Genetic Tests for Osteopathia Striata with Cranial Sclerosis

Genetic tests related to Osteopathia Striata with Cranial Sclerosis:

# Genetic test Affiliating Genes
1 Osteopathia Striata with Cranial Sclerosis 30 AMER1

Anatomical Context for Osteopathia Striata with Cranial Sclerosis

MalaCards organs/tissues related to Osteopathia Striata with Cranial Sclerosis:

42
Bone, Heart, Eye, Kidney

Publications for Osteopathia Striata with Cranial Sclerosis

Articles related to Osteopathia Striata with Cranial Sclerosis:

(show all 45)
# Title Authors Year
1
Sequential radiologic findings in osteopathia striata with cranial sclerosis. ( 31031202 )
2019
2
Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis. ( 28990699 )
2018
3
Genetic and Molecular Insights Into Genotype-Phenotype Relationships in Osteopathia Striata With Cranial Sclerosis (OSCS) Through the Analysis of Novel Mouse Wtx Mutant Alleles. ( 29329488 )
2018
4
First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome. ( 27369646 )
2017
5
A Case Study of a Preadolescent With Osteopathia Striata With Cranial Sclerosis. ( 28390856 )
2017
6
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. ( 28497491 )
2017
7
First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2. ( 28799946 )
2017
8
Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence? ( 29120061 )
2017
9
Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings. ( 26886897 )
2016
10
Osteopathia striata with cranial sclerosis (OSCS): review of the literature and case report demonstrating challenges of spinal fusion after trauma. ( 27068044 )
2016
11
Prenatal diagnosis of osteopathia striata with cranial sclerosis. ( 25284440 )
2015
12
Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology. ( 25296999 )
2015
13
A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma. ( 24459086 )
2014
14
Osteomyelitis in an Osteopathia Striata with Cranial Sclerosis Patient. ( 27489848 )
2014
15
Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion. ( 23401208 )
2013
16
Dental findings in a child with osteopathia striata with cranial sclerosis (OS-CS): a case report. ( 24046992 )
2013
17
Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2. ( 22987541 )
2012
18
Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. ( 20950377 )
2011
19
Mosaicism in osteopathia striata with cranial sclerosis. ( 20150574 )
2010
20
Osteopathia striata with cranial sclerosis owing to WTX gene defect. ( 20209645 )
2010
21
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. ( 19079258 )
2009
22
Surgically assisted rapid maxillary expansion in two cases of osteopathia striata with cranial sclerosis. ( 18452358 )
2008
23
Osteopathia striata with cranial sclerosis and lumbar spinal stenosis. ( 17558457 )
2007
24
Osteopathia striata with cranial sclerosis and hearing loss. ( 16010569 )
2006
25
Osteopathia striata with cranial sclerosis: clinical, radiological, and bone histological findings in an adolescent girl. ( 15266607 )
2004
26
Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report. ( 11512010 )
2001
27
Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance. ( 10893667 )
2000
28
Hyperostosis generalisata with striations of the bones: report of a female case and a review of the literature. ( 10486016 )
1999
29
Clinical vignette: osteopathia striata with cranial sclerosis. ( 9893078 )
1999
30
Severe malformations in males from families with osteopathia striata with cranial sclerosis. ( 9842992 )
1998
31
Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder? ( 9128936 )
1997
32
How to counsel in osteopathia striata with cranial sclerosis. ( 9327263 )
1997
33
Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family. ( 9383023 )
1997
34
Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree. ( 8723089 )
1996
35
Duodenal web in the syndrome of osteopathia striata with cranial sclerosis. ( 8884088 )
1996
36
Osteopathia striata with cranial sclerosis. ( 8008500 )
1994
37
Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis? ( 8362918 )
1993
38
Osteopathia striata with cranial sclerosis. ( 2275685 )
1990
39
Osteopathia striata with cranial sclerosis. ( 2277925 )
1990
40
Osteopathia striata with cranial sclerosis affecting three family members. ( 4071101 )
1985
41
Osteopathia striata with cranial sclerosis. Report of a case and review of the literature. ( 6303664 )
1983
42
Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases. ( 7004677 )
1980
43
Hyperostosis generalisata with striations of the bones, a further report in two related families. ( 421429 )
1979
44
Osteopathia striata with cranial sclerosis. An autosomal dominant entity. ( 627110 )
1978
45
Hyperostosis generalisata with striations of bones. ( 13850948 )
1959

Variations for Osteopathia Striata with Cranial Sclerosis

ClinVar genetic disease variations for Osteopathia Striata with Cranial Sclerosis:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 AMER1 NM_152424.4(AMER1): c.671del (p.Pro224Leufs) deletion Pathogenic GRCh37 Chromosome X, 63412496: 63412496
2 AMER1 NM_152424.4(AMER1): c.671del (p.Pro224Leufs) deletion Pathogenic GRCh38 Chromosome X, 64192616: 64192616
3 AMER1 NM_152424.4(AMER1): c.780dup (p.Pro261Thrfs) duplication Pathogenic GRCh37 Chromosome X, 63412387: 63412387
4 AMER1 NM_152424.4(AMER1): c.780dup (p.Pro261Thrfs) duplication Pathogenic GRCh38 Chromosome X, 64192507: 64192507
5 AMER1 AMER1, DEL deletion Pathogenic
6 AMER1 NM_152424.4(AMER1): c.1057C> T (p.Arg353Ter) single nucleotide variant Pathogenic rs137852216 GRCh37 Chromosome X, 63412110: 63412110
7 AMER1 NM_152424.4(AMER1): c.1057C> T (p.Arg353Ter) single nucleotide variant Pathogenic rs137852216 GRCh38 Chromosome X, 64192230: 64192230
8 AMER1 NM_152424.4(AMER1): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs137852217 GRCh37 Chromosome X, 63412095: 63412095
9 AMER1 NM_152424.4(AMER1): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs137852217 GRCh38 Chromosome X, 64192215: 64192215
10 AMER1 NM_152424.4(AMER1): c.429T> A (p.Cys143Ter) single nucleotide variant Pathogenic rs387906722 GRCh37 Chromosome X, 63412738: 63412738
11 AMER1 NM_152424.4(AMER1): c.429T> A (p.Cys143Ter) single nucleotide variant Pathogenic rs387906722 GRCh38 Chromosome X, 64192858: 64192858
12 AMER1 NM_152424.3(AMER1): c.1267delC (p.Leu423Trpfs) deletion Pathogenic rs398122877 GRCh37 Chromosome X, 63411900: 63411900
13 AMER1 NM_152424.3(AMER1): c.1267delC (p.Leu423Trpfs) deletion Pathogenic rs398122877 GRCh38 Chromosome X, 64192020: 64192020
14 AMER1 NM_152424.4(AMER1): c.811C> T (p.Gln271Ter) single nucleotide variant Pathogenic rs387907269 GRCh37 Chromosome X, 63412356: 63412356
15 AMER1 NM_152424.4(AMER1): c.811C> T (p.Gln271Ter) single nucleotide variant Pathogenic rs387907269 GRCh38 Chromosome X, 64192476: 64192476
16 AMER1 NM_152424.3(AMER1): c.655delG (p.Glu219Argfs) deletion Likely pathogenic rs1555933578 GRCh38 Chromosome X, 64192632: 64192632
17 AMER1 NM_152424.3(AMER1): c.655delG (p.Glu219Argfs) deletion Likely pathogenic rs1555933578 GRCh37 Chromosome X, 63412512: 63412512

Expression for Osteopathia Striata with Cranial Sclerosis

Search GEO for disease gene expression data for Osteopathia Striata with Cranial Sclerosis.

Pathways for Osteopathia Striata with Cranial Sclerosis

Pathways related to Osteopathia Striata with Cranial Sclerosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.37 LRP5 TGFBR1
2
Show member pathways
11.16 LRP5 TGFBR1
3 11.06 AMER1 LRP5 TGFBR1

GO Terms for Osteopathia Striata with Cranial Sclerosis

Cellular components related to Osteopathia Striata with Cranial Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.62 LRP5 TGFBR1

Biological processes related to Osteopathia Striata with Cranial Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.16 AMER1 LRP5
2 anterior/posterior pattern specification GO:0009952 8.96 LRP5 TGFBR1
3 adipose tissue development GO:0060612 8.62 AMER1 LRP5

Sources for Osteopathia Striata with Cranial Sclerosis

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35 ICD10 via Orphanet
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