OI8
MCID: OST118
MIFTS: 45

Osteogenesis Imperfecta, Type Viii (OI8)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Viii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Viii:

Name: Osteogenesis Imperfecta, Type Viii 58 13
Osteogenesis Imperfecta Type 8 12 54 30 6 15
Osteogenesis Imperfecta Type Viii 12 54 76 41
Oi8 58 12 54 76
Oi Type Viii 54 76
Osteogenesis Imperfecta 8 76
Oi, Type Viii 58
Oi-Viii 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
osteogenesis imperfecta, type viii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Viii

OMIM : 58 Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses. (610915)

MalaCards based summary : Osteogenesis Imperfecta, Type Viii, also known as osteogenesis imperfecta type 8, is related to osteogenesis imperfecta, type ii and brittle bone disorder. An important gene associated with Osteogenesis Imperfecta, Type Viii is P3H1 (Prolyl 3-Hydroxylase 1), and among its related pathways/superpathways are Collagen chain trimerization and ECM-receptor interaction. Affiliated tissues include bone and eye, and related phenotypes are osteopenia and scoliosis

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the P3H1 gene on chromosome 1p34.2.

UniProtKB/Swiss-Prot : 76 Osteogenesis imperfecta 8: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI8 is characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest.

Related Diseases for Osteogenesis Imperfecta, Type Viii

Diseases in the Osteogenesis Imperfecta, Type Ii family:

Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Xix Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type V
Osteogenesis Imperfecta, Type Xi Osteogenesis Imperfecta, Type X
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Vi
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type Xv Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type Xvii Osteogenesis Imperfecta, Type Xviii

Diseases related to Osteogenesis Imperfecta, Type Viii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type ii 30.8 COL1A1 COL1A2 CRTAP P3H1
2 brittle bone disorder 29.4 COL1A1 COL1A2 CRTAP P3H1
3 col1a1/2-related osteogenesis imperfecta 10.4
4 pseudoarthrosis 10.1
5 cervical incompetence 9.9 CRTAP P3H1
6 osteogenesis imperfecta, type v 9.9 COL1A1 COL1A2
7 osteogenesis imperfecta, type i 9.9 COL1A1 COL1A2
8 ehlers-danlos/osteogenesis imperfecta syndrome 9.8 COL1A1 COL1A2
9 high bone mass osteogenesis imperfecta 9.8 COL1A1 COL1A2
10 larsen-like syndrome 9.8 COL1A1 COL1A2
11 classic ehlers-danlos syndrome 9.8 COL1A1 COL1A2
12 ehlers-danlos syndrome 9.8 COL1A1 COL1A2
13 scleroderma, familial progressive 9.8 COL1A1 COL1A2
14 ehlers-danlos syndrome, classic type, 1 9.8 COL1A1 COL1A2
15 caffey disease 9.7 COL1A1 COL1A2
16 otosclerosis 9.7 COL1A1 COL1A2
17 spondyloepiphyseal dysplasia congenita 9.7 COL1A1 COL1A2
18 collagen disease 9.6 COL1A1 COL1A2
19 connective tissue disease 9.5 COL1A1 COL1A2 P3H1
20 osteogenesis imperfecta, type vii 9.5 COL1A1 COL1A2 CRTAP
21 scoliosis 9.5 COL1A1 COL1A2
22 osteogenesis imperfecta, type iv 9.5 COL1A1 COL1A2 CRTAP
23 dentinogenesis imperfecta 9.2 COL1A1 COL1A2 CRTAP P3H1
24 osteogenesis imperfecta, type iii 9.2 COL1A1 COL1A2 CRTAP P3H1
25 bruck syndrome 9.2 COL1A1 COL1A2 CRTAP P3H1
26 bone development disease 9.2 COL1A1 COL1A2 CRTAP P3H1

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta, Type Viii:



Diseases related to Osteogenesis Imperfecta, Type Viii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Viii

Human phenotypes related to Osteogenesis Imperfecta, Type Viii:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 HP:0000938
2 scoliosis 33 HP:0002650
3 kyphosis 33 HP:0002808
4 inguinal hernia 33 HP:0000023
5 global developmental delay 33 HP:0001263
6 platyspondyly 33 HP:0000926
7 wormian bones 33 HP:0002645
8 joint laxity 33 HP:0001388
9 thin ribs 33 HP:0000883
10 round face 33 HP:0000311
11 recurrent fractures 33 HP:0002757
12 disproportionate short-limb short stature 33 HP:0008873
13 wide anterior fontanel 33 HP:0000260
14 proptosis 33 HP:0000520
15 short metacarpal 33 HP:0010049
16 multiple prenatal fractures 33 HP:0005855
17 decreased skull ossification 33 HP:0004331
18 delayed cranial suture closure 33 HP:0000270
19 femoral bowing 33 HP:0002980
20 slender long bone 33 HP:0003100
21 barrel-shaped chest 33 HP:0001552
22 tibial bowing 33 HP:0002982
23 radial bowing 33 HP:0002986
24 vertebral compression fractures 33 HP:0002953
25 externally rotated/abducted legs 33 HP:0003783
26 type 1 collagen overmodification 33 HP:0003784

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
kyphosis
platyspondyly
vertebral compression fractures

Skeletal:
joint laxity
bone fragility
normal bone age
severe osteopenia
multiple fractures, present at birth

Head And Neck Face:
round face

Skeletal Limbs:
femoral bowing
tibial bowing
radial bowing
thin, gracile long bones
externally rotated/abducted legs
more
Growth Height:
short stature, disproportionate
dwarfism, short-limbed

Head And Neck Head:
open sutures
wide open anterior fontanelle
soft skull

Chest External Features:
short, barrel-shaped chest

Skeletal Skull:
wormian bones
poorly ossified skull

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Head And Neck Eyes:
proptosis
white sclerae

Skeletal Hands:
short metacarpals
long phalanges

Neurologic Central Nervous System:
delayed development

Head And Neck Teeth:
no dentinogenesis imperfecta

Laboratory Abnormalities:
type 1 collagen overmodification
absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986

Clinical features from OMIM:

610915

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Viii:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.33 COL1A1 COL1A2 P3H1
2 limbs/digits/tail MP:0005371 9.13 COL1A1 COL1A2 P3H1
3 skeleton MP:0005390 8.92 COL1A1 COL1A2 CRTAP P3H1

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Viii

Search Clinical Trials , NIH Clinical Center for Osteogenesis Imperfecta, Type Viii

Genetic Tests for Osteogenesis Imperfecta, Type Viii

Genetic tests related to Osteogenesis Imperfecta, Type Viii:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 8 30 P3H1

Anatomical Context for Osteogenesis Imperfecta, Type Viii

MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Viii:

42
Bone, Eye

Publications for Osteogenesis Imperfecta, Type Viii

Articles related to Osteogenesis Imperfecta, Type Viii:

# Title Authors Year
1
Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing. ( 30322678 )
2019
2
Use of flexible intramedullary nailing in combination with an external fixator for a postoperative defect and pseudarthrosis of femur in a girl with osteogenesis imperfecta type VIII: a case report. ( 30269195 )
2018
3
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII. ( 27864101 )
2017
4
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. ( 22281939 )
2012
5
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. ( 19088120 )
2009
6
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. ( 17277775 )
2007

Variations for Osteogenesis Imperfecta, Type Viii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Viii:

6 (show top 50) (show all 164)
# Gene Variation Type Significance SNP ID Assembly Location
1 P3H1 NM_001146289.1(P3H1): c.1656C> A (p.Tyr552Ter) single nucleotide variant Pathogenic rs72659355 GRCh38 Chromosome 1, 42750250: 42750250
2 P3H1 NM_001146289.1(P3H1): c.1365_1366delAGinsC (p.Glu455Aspfs) indel Pathogenic rs137853952 GRCh37 Chromosome 1, 43218315: 43218316
3 P3H1 NM_001146289.1(P3H1): c.1656C> A (p.Tyr552Ter) single nucleotide variant Pathogenic rs72659355 GRCh37 Chromosome 1, 43215921: 43215921
4 P3H1 NM_001146289.1(P3H1): c.1365_1366delAGinsC (p.Glu455Aspfs) indel Pathogenic rs137853952 GRCh38 Chromosome 1, 42752644: 42752645
5 P3H1 NM_022356.3(P3H1): c.747delC (p.Tyr250Metfs) deletion Pathogenic rs72659348 GRCh38 Chromosome 1, 42759262: 42759262
6 P3H1 NM_022356.3(P3H1): c.1080+1G> T single nucleotide variant Pathogenic rs72659351 GRCh37 Chromosome 1, 43223453: 43223453
7 P3H1 NM_022356.3(P3H1): c.1080+1G> T single nucleotide variant Pathogenic rs72659351 GRCh38 Chromosome 1, 42757782: 42757782
8 P3H1 NM_022356.3(P3H1): c.1473+1G> T single nucleotide variant Pathogenic rs72659354 GRCh37 Chromosome 1, 43218207: 43218207
9 P3H1 NM_022356.3(P3H1): c.1473+1G> T single nucleotide variant Pathogenic rs72659354 GRCh38 Chromosome 1, 42752536: 42752536
10 P3H1 NM_022356.3(P3H1): c.747delC (p.Tyr250Metfs) deletion Pathogenic rs72659348 GRCh37 Chromosome 1, 43224933: 43224933
11 P3H1 NM_001146289.1(P3H1): c.1102C> T (p.Arg368Ter) single nucleotide variant Pathogenic rs118203996 GRCh37 Chromosome 1, 43221287: 43221287
12 P3H1 NM_001146289.1(P3H1): c.1102C> T (p.Arg368Ter) single nucleotide variant Pathogenic rs118203996 GRCh38 Chromosome 1, 42755616: 42755616
13 P3H1 NM_022356.3(P3H1): c.2055+18G> A single nucleotide variant Likely pathogenic rs137853890 GRCh37 Chromosome 1, 43212925: 43212925
14 P3H1 NM_022356.3(P3H1): c.2055+18G> A single nucleotide variant Likely pathogenic rs137853890 GRCh38 Chromosome 1, 42747254: 42747254
15 P3H1 NM_022356.3(P3H1): c.2152C> G (p.Pro718Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs533729683 GRCh37 Chromosome 1, 43212427: 43212427
16 P3H1 NM_022356.3(P3H1): c.2152C> G (p.Pro718Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs533729683 GRCh38 Chromosome 1, 42746756: 42746756
17 P3H1 NM_022356.3(P3H1): c.1322A> G (p.Asp441Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs113593896 GRCh37 Chromosome 1, 43220563: 43220563
18 P3H1 NM_022356.3(P3H1): c.1322A> G (p.Asp441Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs113593896 GRCh38 Chromosome 1, 42754892: 42754892
19 P3H1 NM_022356.3(P3H1): c.1529A> G (p.Asn510Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149894086 GRCh37 Chromosome 1, 43217985: 43217985
20 P3H1 NM_022356.3(P3H1): c.1529A> G (p.Asn510Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149894086 GRCh38 Chromosome 1, 42752314: 42752314
21 P3H1 NM_022356.3(P3H1): c.689C> T (p.Ala230Val) single nucleotide variant Uncertain significance rs369342678 GRCh37 Chromosome 1, 43224991: 43224991
22 P3H1 NM_022356.3(P3H1): c.689C> T (p.Ala230Val) single nucleotide variant Uncertain significance rs369342678 GRCh38 Chromosome 1, 42759320: 42759320
23 P3H1 NM_022356.3(P3H1): c.1716C> T (p.Ile572=) single nucleotide variant Benign rs35500164 GRCh37 Chromosome 1, 43215861: 43215861
24 P3H1 NM_022356.3(P3H1): c.1716C> T (p.Ile572=) single nucleotide variant Benign rs35500164 GRCh38 Chromosome 1, 42750190: 42750190
25 P3H1 NM_022356.3(P3H1): c.1473+5G> T single nucleotide variant Conflicting interpretations of pathogenicity rs114044880 GRCh37 Chromosome 1, 43218203: 43218203
26 P3H1 NM_022356.3(P3H1): c.1473+5G> T single nucleotide variant Conflicting interpretations of pathogenicity rs114044880 GRCh38 Chromosome 1, 42752532: 42752532
27 P3H1 NM_022356.3(P3H1): c.1233G> A (p.Arg411=) single nucleotide variant Benign rs61746653 GRCh37 Chromosome 1, 43220652: 43220652
28 P3H1 NM_022356.3(P3H1): c.1233G> A (p.Arg411=) single nucleotide variant Benign rs61746653 GRCh38 Chromosome 1, 42754981: 42754981
29 P3H1 NM_022356.3(P3H1): c.1026C> T (p.Ala342=) single nucleotide variant Benign rs61100157 GRCh37 Chromosome 1, 43223508: 43223508
30 P3H1 NM_022356.3(P3H1): c.1026C> T (p.Ala342=) single nucleotide variant Benign rs61100157 GRCh38 Chromosome 1, 42757837: 42757837
31 P3H1 NM_022356.3(P3H1): c.139G> T (p.Ala47Ser) single nucleotide variant Benign rs55716016 GRCh37 Chromosome 1, 43232504: 43232504
32 P3H1 NM_022356.3(P3H1): c.139G> T (p.Ala47Ser) single nucleotide variant Benign rs55716016 GRCh38 Chromosome 1, 42766833: 42766833
33 P3H1 NM_022356.3(P3H1): c.2115C> T (p.Leu705=) single nucleotide variant Benign/Likely benign rs199887811 GRCh37 Chromosome 1, 43212464: 43212464
34 P3H1 NM_022356.3(P3H1): c.2115C> T (p.Leu705=) single nucleotide variant Benign/Likely benign rs199887811 GRCh38 Chromosome 1, 42746793: 42746793
35 P3H1 NM_022356.3(P3H1): c.1812C> T (p.Pro604=) single nucleotide variant Benign rs34809608 GRCh37 Chromosome 1, 43213897: 43213897
36 P3H1 NM_022356.3(P3H1): c.1812C> T (p.Pro604=) single nucleotide variant Benign rs34809608 GRCh38 Chromosome 1, 42748226: 42748226
37 P3H1 NM_022356.3(P3H1): c.1569+3A> G single nucleotide variant Benign rs76871760 GRCh37 Chromosome 1, 43217942: 43217942
38 P3H1 NM_022356.3(P3H1): c.1569+3A> G single nucleotide variant Benign rs76871760 GRCh38 Chromosome 1, 42752271: 42752271
39 P3H1 NM_022356.3(P3H1): c.1045G> A (p.Gly349Arg) single nucleotide variant Benign rs6700677 GRCh37 Chromosome 1, 43223489: 43223489
40 P3H1 NM_022356.3(P3H1): c.1045G> A (p.Gly349Arg) single nucleotide variant Benign rs6700677 GRCh38 Chromosome 1, 42757818: 42757818
41 P3H1 NM_022356.3(P3H1): c.1284C> T (p.Ile428=) single nucleotide variant Benign rs61746642 GRCh37 Chromosome 1, 43220601: 43220601
42 P3H1 NM_022356.3(P3H1): c.1284C> T (p.Ile428=) single nucleotide variant Benign rs61746642 GRCh38 Chromosome 1, 42754930: 42754930
43 P3H1 NM_022356.3(P3H1): c.1504G> C (p.Gly502Arg) single nucleotide variant Uncertain significance rs139259804 GRCh37 Chromosome 1, 43218010: 43218010
44 P3H1 NM_022356.3(P3H1): c.1504G> C (p.Gly502Arg) single nucleotide variant Uncertain significance rs139259804 GRCh38 Chromosome 1, 42752339: 42752339
45 P3H1 NM_022356.3(P3H1): c.1806A> C (p.Lys602Asn) single nucleotide variant Uncertain significance rs144336336 GRCh37 Chromosome 1, 43213903: 43213903
46 P3H1 NM_022356.3(P3H1): c.1806A> C (p.Lys602Asn) single nucleotide variant Uncertain significance rs144336336 GRCh38 Chromosome 1, 42748232: 42748232
47 P3H1 NM_022356.3(P3H1): c.1626G> A (p.Thr542=) single nucleotide variant Benign rs577059613 GRCh37 Chromosome 1, 43215951: 43215951
48 P3H1 NM_022356.3(P3H1): c.1626G> A (p.Thr542=) single nucleotide variant Benign rs577059613 GRCh38 Chromosome 1, 42750280: 42750280
49 P3H1 NM_022356.3(P3H1): c.1428C> T (p.Gly476=) single nucleotide variant Benign rs141786883 GRCh37 Chromosome 1, 43218253: 43218253
50 P3H1 NM_022356.3(P3H1): c.1660C> T (p.Arg554Cys) single nucleotide variant Uncertain significance rs138860050 GRCh37 Chromosome 1, 43215917: 43215917

Expression for Osteogenesis Imperfecta, Type Viii

Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Viii.

Pathways for Osteogenesis Imperfecta, Type Viii

Pathways related to Osteogenesis Imperfecta, Type Viii according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 COL1A1 COL1A2 CRTAP P3H1
2
Show member pathways
11.72 COL1A1 COL1A2
3 11.62 COL1A1 COL1A2
4
Show member pathways
11.58 COL1A1 COL1A2 CRTAP P3H1
5
Show member pathways
11.53 COL1A1 COL1A2
6 11.49 COL1A1 COL1A2
7 11.46 COL1A1 COL1A2
8 11.26 COL1A1 COL1A2
9 11.22 COL1A1 COL1A2
10 11.11 COL1A1 COL1A2
11 10.97 COL1A1 COL1A2
12 10.91 COL1A1 COL1A2
13 10.78 COL1A1 COL1A2
14 10.52 COL1A1 COL1A2

GO Terms for Osteogenesis Imperfecta, Type Viii

Cellular components related to Osteogenesis Imperfecta, Type Viii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.46 COL1A1 COL1A2 CRTAP P3H1
2 collagen trimer GO:0005581 9.26 COL1A1 COL1A2
3 collagen type I trimer GO:0005584 8.96 COL1A1 COL1A2
4 endoplasmic reticulum lumen GO:0005788 8.92 COL1A1 COL1A2 CRTAP P3H1

Biological processes related to Osteogenesis Imperfecta, Type Viii according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.54 COL1A1 COL1A2
2 extracellular matrix organization GO:0030198 9.52 COL1A1 COL1A2
3 leukocyte migration GO:0050900 9.51 COL1A1 COL1A2
4 blood coagulation GO:0007596 9.49 COL1A1 COL1A2
5 protein stabilization GO:0050821 9.48 CRTAP P3H1
6 skeletal system development GO:0001501 9.46 COL1A1 COL1A2
7 platelet activation GO:0030168 9.43 COL1A1 COL1A2
8 cellular response to amino acid stimulus GO:0071230 9.4 COL1A1 COL1A2
9 blood vessel development GO:0001568 9.37 COL1A1 COL1A2
10 collagen fibril organization GO:0030199 9.32 COL1A1 COL1A2
11 chaperone-mediated protein folding GO:0061077 9.26 CRTAP P3H1
12 protein heterotrimerization GO:0070208 9.16 COL1A1 COL1A2
13 skin morphogenesis GO:0043589 8.96 COL1A1 COL1A2
14 negative regulation of post-translational protein modification GO:1901874 8.62 CRTAP P3H1

Molecular functions related to Osteogenesis Imperfecta, Type Viii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.26 COL1A1 COL1A2
2 protease binding GO:0002020 9.16 COL1A1 COL1A2
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A1 COL1A2
4 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2

Sources for Osteogenesis Imperfecta, Type Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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