MCID: SCL042
MIFTS: 41

Sclerosteosis 2

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

Aliases & Classifications for Sclerosteosis 2

MalaCards integrated aliases for Sclerosteosis 2:

Name: Sclerosteosis 2 57 12 75 29 13 6 15 73
Sost2 57 12 75
Sclerosteosis, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant



Classifications:



Summaries for Sclerosteosis 2

UniProtKB/Swiss-Prot : 75 Sclerosteosis 2: A sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients.

MalaCards based summary : Sclerosteosis 2, also known as sost2, is related to myasthenic syndrome, congenital, 17 and congenital myasthenic syndrome associated with acetylcholine receptor deficiency. An important gene associated with Sclerosteosis 2 is LRP4 (LDL Receptor Related Protein 4), and among its related pathways/superpathways are Signaling by Wnt and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include bone, and related phenotypes are macrocephaly and mandibular prognathia

Disease Ontology : 12 A sclerosteosis that has material basis in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11.

OMIM : 57 Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001). For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (269500). (614305)

Related Diseases for Sclerosteosis 2

Diseases in the Sclerosteosis family:

Sclerosteosis 1 Sclerosteosis 2

Diseases related to Sclerosteosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 17 10.6 LRP4 LRP4-AS1
2 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 10.3 DOK7 MUSK
3 neonatal myasthenia gravis 10.2 DPAGT1 MUSK
4 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.1 DOK7 MUSK
5 myopathy, tubular aggregate, 1 10.1 DOK7 DPAGT1
6 fetal akinesia deformation sequence 9.9 DOK7 MUSK RAPSN
7 peripheral nervous system disease 9.8 DPAGT1 MUSK RAPSN
8 ptosis 9.8 DOK7 MUSK RAPSN
9 myasthenia gravis 9.8 AGRN MUSK RAPSN
10 osteoporosis-pseudoglioma syndrome 9.8 CTNNB1 LRP5
11 mass syndrome 9.5 LRP5 SOST
12 osteogenesis imperfecta, type vi 9.4 CTNNB1 SOST
13 hyperostosis 9.2 LRP4 LRP5 SOST
14 postsynaptic congenital myasthenic syndromes 9.1 AGRN DOK7 LRP4 MUSK RAPSN
15 bone resorption disease 9.1 LRP5 SOST
16 bone remodeling disease 8.9 LRP5 SOST
17 trehalase deficiency 8.9 CTNNB1 DOK7 DPAGT1 LRP5
18 van buchem disease 8.7 LRP4 LRP5 LRP6 SOST
19 sclerosteosis 8.7 LRP4 LRP5 LRP6 SOST
20 neuromuscular junction disease 8.7 AGRN DOK7 DPAGT1 LRP4 MUSK RAPSN
21 congenital myasthenic syndrome 8.7 AGRN DOK7 DPAGT1 LRP4 MUSK RAPSN
22 craniodiaphyseal dysplasia 8.5 CTNNB1 LRP5 LRP6 SOST
23 osteoporosis 8.3 CTNNB1 LRP5 LRP6 SOST
24 cenani-lenz syndactyly syndrome 6.4 AGRN DOK7 DPAGT1 LRP4 LRP5 LRP6

Graphical network of the top 20 diseases related to Sclerosteosis 2:



Diseases related to Sclerosteosis 2

Symptoms & Phenotypes for Sclerosteosis 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Skeletal Feet:
cutaneous syndactyly

Skin Nails Hair Nails:
dysplastic nails

Neurologic Central Nervous System:
facial nerve palsy
spastic-ataxic tetraparesis

Head And Neck Head:
increased head circumference

Chest Ribs Sternum Clavicles And Scapulae:
wide and dense clavicles
wide and dense ribs

Skeletal Pelvis:
sclerotic pelvic bones

Head And Neck Face:
frontal bossing
prognathism
facial asymmetry due to facial nerve palsy

Head And Neck Ears:
hearing loss

Skeletal Skull:
sclerotic calvarium
enlarged, sclerotic mandible

Skeletal Hands:
hypoplastic digits
bony syndactyly of digits
radial deviation of distal phalanx

Growth Height:
increased stature

Skeletal Spine:
sclerotic vertebral end plates and pedicles

Skeletal Limbs:
cortical hyperostosis of long bones


Clinical features from OMIM:

614305

Human phenotypes related to Sclerosteosis 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 mandibular prognathia 32 HP:0000303
3 hypertelorism 32 HP:0000316
4 hearing impairment 32 HP:0000365
5 frontal bossing 32 HP:0002007
6 nail dysplasia 32 HP:0002164
7 short finger 32 HP:0009381
8 cutaneous finger syndactyly 32 HP:0010554
9 facial palsy 32 HP:0010628

MGI Mouse Phenotypes related to Sclerosteosis 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 MUSK SOST AGRN CTNNB1 DOK7 LRP4
2 homeostasis/metabolism MP:0005376 10.03 AGRN CTNNB1 LRP4 LRP5 LRP6 MUSK
3 behavior/neurological MP:0005386 10.02 AGRN CTNNB1 DOK7 LRP4 LRP5 LRP6
4 mortality/aging MP:0010768 10.02 AGRN CTNNB1 DOK7 DPAGT1 LRP4 LRP5
5 limbs/digits/tail MP:0005371 9.88 AGRN CTNNB1 LRP4 LRP5 LRP6 SOST
6 nervous system MP:0003631 9.86 AGRN CTNNB1 DOK7 LRP4 LRP5 LRP6
7 muscle MP:0005369 9.72 AGRN CTNNB1 DOK7 MUSK RAPSN
8 normal MP:0002873 9.63 AGRN CTNNB1 DPAGT1 LRP5 LRP6 SOST
9 respiratory system MP:0005388 9.5 AGRN CTNNB1 DOK7 LRP4 LRP6 MUSK
10 skeleton MP:0005390 9.1 CTNNB1 LRP4 LRP5 LRP6 MUSK SOST

Drugs & Therapeutics for Sclerosteosis 2

Search Clinical Trials , NIH Clinical Center for Sclerosteosis 2

Genetic Tests for Sclerosteosis 2

Genetic tests related to Sclerosteosis 2:

# Genetic test Affiliating Genes
1 Sclerosteosis 2 29 LRP4

Anatomical Context for Sclerosteosis 2

MalaCards organs/tissues related to Sclerosteosis 2:

41
Bone

Publications for Sclerosteosis 2

Variations for Sclerosteosis 2

UniProtKB/Swiss-Prot genetic disease variations for Sclerosteosis 2:

75
# Symbol AA change Variation ID SNP ID
1 LRP4 p.Arg1170Trp VAR_066630 rs387906884
2 LRP4 p.Trp1186Ser VAR_066631 rs387906883

ClinVar genetic disease variations for Sclerosteosis 2:

6
(show top 50) (show all 122)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP4 NM_002334.3(LRP4): c.3557G> C (p.Trp1186Ser) single nucleotide variant Likely pathogenic rs387906883 GRCh37 Chromosome 11, 46897497: 46897497
2 LRP4 NM_002334.3(LRP4): c.3557G> C (p.Trp1186Ser) single nucleotide variant Likely pathogenic rs387906883 GRCh38 Chromosome 11, 46875946: 46875946
3 LRP4 NM_002334.3(LRP4): c.3508C> T (p.Arg1170Trp) single nucleotide variant Pathogenic rs387906884 GRCh37 Chromosome 11, 46898045: 46898045
4 LRP4 NM_002334.3(LRP4): c.3508C> T (p.Arg1170Trp) single nucleotide variant Pathogenic rs387906884 GRCh38 Chromosome 11, 46876494: 46876494
5 LRP4 NM_002334.3(LRP4): c.1551T> C (p.Ala517=) single nucleotide variant Benign rs150777198 GRCh37 Chromosome 11, 46914670: 46914670
6 LRP4 NM_002334.3(LRP4): c.1551T> C (p.Ala517=) single nucleotide variant Benign rs150777198 GRCh38 Chromosome 11, 46893119: 46893119
7 LRP4 NM_002334.3(LRP4): c.1915+6C> T single nucleotide variant Likely benign rs184555624 GRCh37 Chromosome 11, 46911822: 46911822
8 LRP4 NM_002334.3(LRP4): c.1915+6C> T single nucleotide variant Likely benign rs184555624 GRCh38 Chromosome 11, 46890271: 46890271
9 LRP4 NM_002334.3(LRP4): c.5357T> A (p.Met1786Lys) single nucleotide variant Likely benign rs61748876 GRCh37 Chromosome 11, 46884185: 46884185
10 LRP4 NM_002334.3(LRP4): c.5357T> A (p.Met1786Lys) single nucleotide variant Likely benign rs61748876 GRCh38 Chromosome 11, 46862634: 46862634
11 LRP4 NM_002334.3(LRP4): c.997G> A (p.Gly333Arg) single nucleotide variant Benign/Likely benign rs61744209 GRCh37 Chromosome 11, 46917812: 46917812
12 LRP4 NM_002334.3(LRP4): c.997G> A (p.Gly333Arg) single nucleotide variant Benign/Likely benign rs61744209 GRCh38 Chromosome 11, 46896261: 46896261
13 LRP4 NM_002334.3(LRP4): c.3817C> A (p.Arg1273=) single nucleotide variant Benign rs61746928 GRCh38 Chromosome 11, 46875564: 46875564
14 LRP4 NM_002334.3(LRP4): c.3817C> A (p.Arg1273=) single nucleotide variant Benign rs61746928 GRCh37 Chromosome 11, 46897115: 46897115
15 LRP4 NM_002334.3(LRP4): c.3407G> A (p.Arg1136Gln) single nucleotide variant Uncertain significance rs61736853 GRCh37 Chromosome 11, 46898146: 46898146
16 LRP4 NM_002334.3(LRP4): c.3407G> A (p.Arg1136Gln) single nucleotide variant Uncertain significance rs61736853 GRCh38 Chromosome 11, 46876595: 46876595
17 LRP4 NM_002334.3(LRP4): c.639C> T (p.Asp213=) single nucleotide variant Conflicting interpretations of pathogenicity rs144974139 GRCh37 Chromosome 11, 46920492: 46920492
18 LRP4 NM_002334.3(LRP4): c.639C> T (p.Asp213=) single nucleotide variant Conflicting interpretations of pathogenicity rs144974139 GRCh38 Chromosome 11, 46898941: 46898941
19 LRP4 NM_002334.3(LRP4): c.5660C> G (p.Ser1887Cys) single nucleotide variant Uncertain significance rs149082597 GRCh37 Chromosome 11, 46880592: 46880592
20 LRP4 NM_002334.3(LRP4): c.5660C> G (p.Ser1887Cys) single nucleotide variant Uncertain significance rs149082597 GRCh38 Chromosome 11, 46859041: 46859041
21 LRP4 NM_002334.3(LRP4): c.1494C> T (p.Asn498=) single nucleotide variant Benign rs61749083 GRCh37 Chromosome 11, 46916186: 46916186
22 LRP4 NM_002334.3(LRP4): c.1494C> T (p.Asn498=) single nucleotide variant Benign rs61749083 GRCh38 Chromosome 11, 46894635: 46894635
23 LRP4 NM_002334.3(LRP4): c.3620A> G (p.Asn1207Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs151234321 GRCh37 Chromosome 11, 46897434: 46897434
24 LRP4 NM_002334.3(LRP4): c.3620A> G (p.Asn1207Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs151234321 GRCh38 Chromosome 11, 46875883: 46875883
25 LRP4 NM_002334.3(LRP4): c.1048+7G> T single nucleotide variant Conflicting interpretations of pathogenicity rs148557097 GRCh37 Chromosome 11, 46917754: 46917754
26 LRP4 NM_002334.3(LRP4): c.1048+7G> T single nucleotide variant Conflicting interpretations of pathogenicity rs148557097 GRCh38 Chromosome 11, 46896203: 46896203
27 LRP4 NM_002334.3(LRP4): c.5182A> G (p.Ile1728Val) single nucleotide variant Uncertain significance rs148865136 GRCh37 Chromosome 11, 46886060: 46886060
28 LRP4 NM_002334.3(LRP4): c.5182A> G (p.Ile1728Val) single nucleotide variant Uncertain significance rs148865136 GRCh38 Chromosome 11, 46864509: 46864509
29 LRP4 NM_002334.3(LRP4): c.1787A> G (p.His596Arg) single nucleotide variant Likely benign rs138878258 GRCh37 Chromosome 11, 46911956: 46911956
30 LRP4 NM_002334.3(LRP4): c.1787A> G (p.His596Arg) single nucleotide variant Likely benign rs138878258 GRCh38 Chromosome 11, 46890405: 46890405
31 LRP4 NM_002334.3(LRP4): c.3945G> A (p.Ser1315=) single nucleotide variant Benign/Likely benign rs61733844 GRCh37 Chromosome 11, 46896635: 46896635
32 LRP4 NM_002334.3(LRP4): c.3945G> A (p.Ser1315=) single nucleotide variant Benign/Likely benign rs61733844 GRCh38 Chromosome 11, 46875084: 46875084
33 LRP4 NM_002334.3(LRP4): c.3944C> T (p.Ser1315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs150681693 GRCh37 Chromosome 11, 46896636: 46896636
34 LRP4 NM_002334.3(LRP4): c.3944C> T (p.Ser1315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs150681693 GRCh38 Chromosome 11, 46875085: 46875085
35 LRP4 NM_002334.3(LRP4): c.1435C> T (p.Arg479Cys) single nucleotide variant Uncertain significance rs143207358 GRCh37 Chromosome 11, 46916245: 46916245
36 LRP4 NM_002334.3(LRP4): c.1435C> T (p.Arg479Cys) single nucleotide variant Uncertain significance rs143207358 GRCh38 Chromosome 11, 46894694: 46894694
37 LRP4 NM_002334.3(LRP4): c.5165T> A (p.Leu1722His) single nucleotide variant Benign/Likely benign rs117936904 GRCh37 Chromosome 11, 46886077: 46886077
38 LRP4 NM_002334.3(LRP4): c.5165T> A (p.Leu1722His) single nucleotide variant Benign/Likely benign rs117936904 GRCh38 Chromosome 11, 46864526: 46864526
39 LRP4 NM_002334.3(LRP4): c.1695G> A (p.Glu565=) single nucleotide variant Benign/Likely benign rs61741501 GRCh38 Chromosome 11, 46892975: 46892975
40 LRP4 NM_002334.3(LRP4): c.1695G> A (p.Glu565=) single nucleotide variant Benign/Likely benign rs61741501 GRCh37 Chromosome 11, 46914526: 46914526
41 LRP4 NM_002334.3(LRP4): c.1501A> C (p.Asn501His) single nucleotide variant Benign/Likely benign rs72897663 GRCh37 Chromosome 11, 46916179: 46916179
42 LRP4 NM_002334.3(LRP4): c.1501A> C (p.Asn501His) single nucleotide variant Benign/Likely benign rs72897663 GRCh38 Chromosome 11, 46894628: 46894628
43 LRP4 NM_002334.3(LRP4): c.813G> A (p.Thr271=) single nucleotide variant Benign/Likely benign rs879721 GRCh37 Chromosome 11, 46918529: 46918529
44 LRP4 NM_002334.3(LRP4): c.813G> A (p.Thr271=) single nucleotide variant Benign/Likely benign rs879721 GRCh38 Chromosome 11, 46896978: 46896978
45 LRP4 NM_002334.3(LRP4): c.4837+10C> T single nucleotide variant Benign/Likely benign rs74806847 GRCh37 Chromosome 11, 46890529: 46890529
46 LRP4 NM_002334.3(LRP4): c.4837+10C> T single nucleotide variant Benign/Likely benign rs74806847 GRCh38 Chromosome 11, 46868978: 46868978
47 LRP4 NM_002334.3(LRP4): c.1117C> T (p.Arg373Trp) single nucleotide variant Benign/Likely benign rs118009068 GRCh37 Chromosome 11, 46917501: 46917501
48 LRP4 NM_002334.3(LRP4): c.1117C> T (p.Arg373Trp) single nucleotide variant Benign/Likely benign rs118009068 GRCh38 Chromosome 11, 46895950: 46895950
49 LRP4 NM_002334.3(LRP4): c.941T> C (p.Leu314Ser) single nucleotide variant Benign/Likely benign rs7926667 GRCh37 Chromosome 11, 46917868: 46917868
50 LRP4 NM_002334.3(LRP4): c.941T> C (p.Leu314Ser) single nucleotide variant Benign/Likely benign rs7926667 GRCh38 Chromosome 11, 46896317: 46896317

Expression for Sclerosteosis 2

Search GEO for disease gene expression data for Sclerosteosis 2.

Pathways for Sclerosteosis 2

Pathways related to Sclerosteosis 2 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 CTNNB1 LRP5 LRP6 SOST
2
Show member pathways
12.24 CTNNB1 LRP5 LRP6 SOST
3 11.96 CTNNB1 LRP5 LRP6
4 11.9 CTNNB1 LRP5 LRP6
5
Show member pathways
11.87 CTNNB1 LRP5 LRP6
6
Show member pathways
11.74 CTNNB1 LRP5 LRP6 SOST
7 11.66 LRP5 LRP6 SOST
8 11.34 AGRN LRP4 MUSK
9 11.33 CTNNB1 LRP5 LRP6
10 11.29 AGRN MUSK RAPSN
11 11.24 CTNNB1 LRP6
12 11.22 CTNNB1 LRP5 LRP6
13 11.09 CTNNB1 LRP5
14
Show member pathways
11.05 LRP5 LRP6
15 10.98 LRP5 LRP6
16 10.79 AGRN CTNNB1 LRP5 LRP6
17 10.71 CTNNB1 LRP5 LRP6
18
Show member pathways
10.45 LRP5 LRP6 SOST

GO Terms for Sclerosteosis 2

Cellular components related to Sclerosteosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.8 AGRN CTNNB1 DOK7 MUSK RAPSN
2 neuromuscular junction GO:0031594 9.5 LRP4 MUSK RAPSN
3 receptor complex GO:0043235 9.46 LRP4 LRP5 LRP6 MUSK
4 synapse GO:0045202 9.43 AGRN CTNNB1 DOK7 LRP6 MUSK RAPSN
5 flotillin complex GO:0016600 9.37 CTNNB1 LRP4
6 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.26 LRP5 LRP6
7 Wnt signalosome GO:1990909 8.8 CTNNB1 LRP5 LRP6
8 plasma membrane GO:0005886 10.03 AGRN CTNNB1 DOK7 LRP4 LRP5 LRP6

Biological processes related to Sclerosteosis 2 according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.93 CTNNB1 LRP5 LRP6 SOST
2 chemical synaptic transmission GO:0007268 9.83 CTNNB1 LRP6 RAPSN
3 endocytosis GO:0006897 9.79 LRP4 LRP5 LRP6
4 negative regulation of canonical Wnt signaling pathway GO:0090090 9.76 LRP4 LRP6 SOST
5 positive regulation of DNA binding transcription factor activity GO:0051091 9.7 CTNNB1 LRP5 LRP6
6 positive regulation of neuron apoptotic process GO:0043525 9.65 CTNNB1 RAPSN
7 canonical Wnt signaling pathway GO:0060070 9.65 CTNNB1 LRP5 LRP6
8 dorsal/ventral pattern formation GO:0009953 9.64 CTNNB1 LRP4
9 limb development GO:0060173 9.64 CTNNB1 LRP4
10 midbrain development GO:0030901 9.63 CTNNB1 LRP6
11 embryonic digit morphogenesis GO:0042733 9.63 CTNNB1 LRP4 LRP5
12 negative regulation of protein serine/threonine kinase activity GO:0071901 9.61 LRP5 LRP6
13 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 CTNNB1 LRP5
14 odontogenesis of dentin-containing tooth GO:0042475 9.61 CTNNB1 LRP4 LRP6
15 animal organ development GO:0048513 9.6 CTNNB1 LRP4
16 vasculature development GO:0001944 9.59 CTNNB1 LRP5
17 receptor clustering GO:0043113 9.58 AGRN LRP4
18 synapse organization GO:0050808 9.58 AGRN CTNNB1 LRP4
19 proximal/distal pattern formation GO:0009954 9.57 CTNNB1 LRP4
20 negative regulation of ossification GO:0030279 9.56 LRP4 SOST
21 bone remodeling GO:0046849 9.55 LRP5 LRP6
22 Wnt signaling pathway GO:0016055 9.55 CTNNB1 LRP4 LRP5 LRP6 SOST
23 regulation of ossification GO:0030278 9.54 LRP5 LRP6
24 regulation of canonical Wnt signaling pathway GO:0060828 9.54 LRP4 LRP5 LRP6
25 branching involved in mammary gland duct morphogenesis GO:0060444 9.51 LRP5 LRP6
26 beta-catenin destruction complex disassembly GO:1904886 9.5 CTNNB1 LRP5 LRP6
27 midbrain dopaminergic neuron differentiation GO:1904948 9.49 CTNNB1 LRP6
28 gastrulation with mouth forming second GO:0001702 9.43 CTNNB1 LRP5 LRP6
29 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.13 LRP4 MUSK RAPSN
30 Wnt signaling pathway involved in dorsal/ventral axis specification GO:0044332 8.8 LRP4 LRP5 LRP6
31 multicellular organism development GO:0007275 10.02 AGRN LRP4 LRP5 LRP6 MUSK

Molecular functions related to Sclerosteosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 coreceptor activity GO:0015026 9.4 LRP5 LRP6
2 apolipoprotein binding GO:0034185 9.37 LRP4 LRP6
3 toxin transmembrane transporter activity GO:0019534 9.32 LRP5 LRP6
4 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.26 LRP5 LRP6
5 coreceptor activity involved in Wnt signaling pathway GO:0071936 9.16 LRP5 LRP6
6 Wnt-protein binding GO:0017147 9.13 LRP4 LRP5 LRP6
7 Wnt-activated receptor activity GO:0042813 8.8 LRP4 LRP5 LRP6

Sources for Sclerosteosis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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