MCID: OST119
MIFTS: 44

Osteogenesis Imperfecta, Type Vii

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Vii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Vii:

Name: Osteogenesis Imperfecta, Type Vii 57 13
Osteogenesis Imperfecta Type Vii 12 53 75 40 73
Osteogenesis Imperfecta Type 7 12 29 6 15
Oi7 57 12 75
Oi Type Vii 53 75
Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive 75
Osteogenesis Imperfecta, Type Iib, Formerly; Oi2b, Formerly 57
Osteogenesis Imperfecta Type Ii Autosomal Recessive 75
Osteogenesis Imperfecta, Type Iib, Formerly 57
Osteogenesis Imperfecta Type Iib 75
Osteogenesis Imperfecta 7 75
Oi2b, Formerly 57
Oi, Type Vii 57
Oi Type Iib 75
Oi Type 7 53
Oi-Iib 75
Oi-Vii 75
Oi2b 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
multiple fractures present at birth
death in infancy secondary to respiratory insufficiency/pneumonia
fracture frequency decreased post puberty


HPO:

32
osteogenesis imperfecta, type vii:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Vii

UniProtKB/Swiss-Prot : 75 Osteogenesis imperfecta 7: 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. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency.

MalaCards based summary : Osteogenesis Imperfecta, Type Vii, also known as osteogenesis imperfecta type vii, is related to osteogenesis imperfecta, type ii and brittle bone disorder. An important gene associated with Osteogenesis Imperfecta, Type Vii is CRTAP (Cartilage Associated Protein), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include bone, and related phenotypes are hydronephrosis and wide anterior fontanel

OMIM : 57 Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006). (610682)

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the CRTAP gene on chromosome 3p22.

Related Diseases for Osteogenesis Imperfecta, Type Vii

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 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 Vii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type ii 29.8 CD36 COL1A1 COL1A2 CRTAP
2 brittle bone disorder 27.1 CD36 COL1A1 COL1A2 CRTAP PTH1R
3 osteogenesis imperfecta, type vi 10.0 COL1A1 CRTAP
4 ehlers-danlos/osteogenesis imperfecta syndrome 9.7 COL1A1 COL1A2
5 primary hyperparathyroidism 9.7 CD36 PTH1R
6 high bone mass osteogenesis imperfecta 9.6 COL1A1 COL1A2
7 larsen-like syndrome 9.6 COL1A1 COL1A2
8 ehlers-danlos syndrome, classic type 9.6 COL1A1 COL1A2
9 spondyloepiphyseal dysplasia congenita 9.5 COL1A1 COL1A2
10 collagen disease 9.5 COL1A1 COL1A2
11 ehlers-danlos syndrome 9.3 COL1A1 COL1A2
12 bone disease 9.2 CD36 COL1A1 PTH1R
13 connective tissue disease 9.2 COL1A1 COL1A2
14 osteogenesis imperfecta, type viii 9.2 COL1A1 COL1A2 CRTAP
15 dentinogenesis imperfecta 9.2 COL1A1 COL1A2 CRTAP
16 bone development disease 9.2 COL1A1 COL1A2 CRTAP
17 scleroderma, familial progressive 9.1 CD36 COL1A1 COL1A2
18 caffey disease 9.1 CD36 COL1A1 COL1A2
19 ehlers-danlos syndrome, classic type, 1 9.1 CD36 COL1A1 COL1A2
20 osteogenesis imperfecta, type v 9.1 CD36 COL1A1 COL1A2
21 osteogenesis imperfecta, type i 9.1 CD36 COL1A1 COL1A2
22 otosclerosis 9.1 CD36 COL1A1 COL1A2
23 scoliosis 9.0 COL1A1 COL1A2
24 osteogenesis imperfecta, type iv 8.6 CD36 COL1A1 COL1A2 CRTAP
25 bruck syndrome 8.6 CD36 COL1A1 COL1A2 CRTAP
26 osteogenesis imperfecta, type iii 8.6 CD36 COL1A1 COL1A2 CRTAP
27 osteoporosis 8.3 CD36 COL1A1 COL1A2 PTH1R

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



Diseases related to Osteogenesis Imperfecta, Type Vii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Vii

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
multiple rib fractures

Skeletal Spine:
scoliosis
vertebral compression fractures

Chest External Features:
narrow chest

Skeletal Skull:
wormian bones
poorly ossified calvaria

Skeletal Pelvis:
coxa vara
protrusio acetabulae

Prenatal Manifestations Delivery:
breech presentation
term delivery

Growth Height:
normal birth length
short stature (adult)

Head And Neck Head:
large open anterior fontanelle
open sutures

Cardiovascular Vascular:
absent pulmonary artery
hypoplastic pulmonary veins

Skeletal:
osteopenia
multiple fractures present at birth
moderate-severe bone fragility

Head And Neck Face:
long philtrum
round face

Skeletal Limbs:
micromelia
rhizomelia
crumpled long bones
bowed lower limbs
externally rotated/abducted legs
more
Head And Neck Eyes:
proptosis
bluish sclerae

Genitourinary Kidneys:
hydronephrosis

Growth Weight:
normal birth weight

Head And Neck Ears:
normal hearing

Head And Neck Teeth:
no dentinogenesis imperfecta


Clinical features from OMIM:

610682

Human phenotypes related to Osteogenesis Imperfecta, Type Vii:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 hydronephrosis 32 HP:0000126
2 wide anterior fontanel 32 HP:0000260
3 delayed cranial suture closure 32 HP:0000270
4 round face 32 HP:0000311
5 long philtrum 32 HP:0000343
6 proptosis 32 HP:0000520
7 blue sclerae 32 HP:0000592
8 pectus excavatum 32 HP:0000767
9 narrow chest 32 HP:0000774
10 osteopenia 32 HP:0000938
11 breech presentation 32 HP:0001623
12 wormian bones 32 HP:0002645
13 scoliosis 32 HP:0002650
14 recurrent fractures 32 HP:0002757
15 coxa vara 32 HP:0002812
16 vertebral compression fractures 32 HP:0002953
17 bowing of the legs 32 HP:0002979
18 micromelia 32 HP:0002983
19 protrusio acetabuli 32 HP:0003179
20 externally rotated/abducted legs 32 HP:0003783
21 absent pulmonary artery 32 HP:0004960
22 hypoplastic pulmonary veins 32 HP:0005304
23 decreased calvarial ossification 32 HP:0005474
24 multiple prenatal fractures 32 HP:0005855
25 crumpled long bones 32 HP:0006367
26 multiple rib fractures 32 HP:0006640
27 rhizomelia 32 HP:0008905
28 wide cranial sutures 32 HP:0010537

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Vii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.35 CD36 COL1A1 COL1A2 CRTAP PTH1R
2 skeleton MP:0005390 9.02 PTH1R CD36 COL1A1 COL1A2 CRTAP

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Vii

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

Genetic Tests for Osteogenesis Imperfecta, Type Vii

Genetic tests related to Osteogenesis Imperfecta, Type Vii:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 7 29 CRTAP

Anatomical Context for Osteogenesis Imperfecta, Type Vii

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

41
Bone

Publications for Osteogenesis Imperfecta, Type Vii

Articles related to Osteogenesis Imperfecta, Type Vii:

# Title Authors Year
1
CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. ( 19895918 )
2010
2
Intravenous pamidronate in osteogenesis imperfecta type VII. ( 19137231 )
2009

Variations for Osteogenesis Imperfecta, Type Vii

UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type Vii:

75
# Symbol AA change Variation ID SNP ID
1 CRTAP p.Leu67Pro VAR_054442 rs72659358
2 CRTAP p.Ala13Glu VAR_063599 rs137853938
3 CRTAP p.Lys157Glu VAR_063600 rs137853942

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Vii:

6
(show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRTAP CRTAP, IVS1, -1021C-G single nucleotide variant Pathogenic
2 CRTAP CRTAP, 1-BP DEL, 879T deletion Pathogenic
3 CRTAP CRTAP, IVS1, G-C, +1 single nucleotide variant Pathogenic
4 CRTAP NM_006371.4(CRTAP): c.826C> T (p.Gln276Ter) single nucleotide variant Pathogenic rs72659361 GRCh37 Chromosome 3, 33171463: 33171463
5 CRTAP NM_006371.4(CRTAP): c.826C> T (p.Gln276Ter) single nucleotide variant Pathogenic rs72659361 GRCh38 Chromosome 3, 33129971: 33129971
6 CRTAP NM_006371.4(CRTAP): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs72659357 GRCh37 Chromosome 3, 33155572: 33155572
7 CRTAP NM_006371.4(CRTAP): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs72659357 GRCh38 Chromosome 3, 33114080: 33114080
8 CRTAP CRTAP, 16-BP DUP duplication Pathogenic
9 CRTAP NM_006371.4(CRTAP): c.118_133del16insTACCC (p.Glu40Tyrfs*117) indel Pathogenic rs387907333 GRCh37 Chromosome 3, 33155687: 33155702
10 CRTAP NM_006371.4(CRTAP): c.118_133del16insTACCC (p.Glu40Tyrfs*117) indel Pathogenic rs387907333 GRCh38 Chromosome 3, 33114195: 33114210
11 CRTAP NM_006371.4(CRTAP): c.561T> G (p.Tyr187Ter) single nucleotide variant Pathogenic rs387907334 GRCh37 Chromosome 3, 33161925: 33161925
12 CRTAP NM_006371.4(CRTAP): c.561T> G (p.Tyr187Ter) single nucleotide variant Pathogenic rs387907334 GRCh38 Chromosome 3, 33120433: 33120433
13 CRTAP NM_006371.4(CRTAP): c.213G> A (p.Leu71=) single nucleotide variant Benign rs11558338 GRCh37 Chromosome 3, 33155782: 33155782
14 CRTAP NM_006371.4(CRTAP): c.213G> A (p.Leu71=) single nucleotide variant Benign rs11558338 GRCh38 Chromosome 3, 33114290: 33114290
15 CRTAP NM_006371.4(CRTAP): c.534C> T (p.Asp178=) single nucleotide variant Benign rs4076086 GRCh37 Chromosome 3, 33161898: 33161898
16 CRTAP NM_006371.4(CRTAP): c.534C> T (p.Asp178=) single nucleotide variant Benign rs4076086 GRCh38 Chromosome 3, 33120406: 33120406
17 CRTAP NM_006371.4(CRTAP): c.558A> G (p.Ala186=) single nucleotide variant Benign/Likely benign rs35357409 GRCh37 Chromosome 3, 33161922: 33161922
18 CRTAP NM_006371.4(CRTAP): c.558A> G (p.Ala186=) single nucleotide variant Benign/Likely benign rs35357409 GRCh38 Chromosome 3, 33120430: 33120430
19 CRTAP NM_006371.4(CRTAP): c.471+2C> A single nucleotide variant Pathogenic rs137853943 GRCh37 Chromosome 3, 33156042: 33156042
20 CRTAP NM_006371.4(CRTAP): c.471+2C> A single nucleotide variant Pathogenic rs137853943 GRCh38 Chromosome 3, 33114550: 33114550
21 CRTAP NM_006371.4(CRTAP): c.471+2C> G single nucleotide variant Likely pathogenic rs137853943 GRCh37 Chromosome 3, 33156042: 33156042
22 CRTAP NM_006371.4(CRTAP): c.471+2C> G single nucleotide variant Likely pathogenic rs137853943 GRCh38 Chromosome 3, 33114550: 33114550
23 CRTAP NM_006371.4(CRTAP): c.118G> T (p.Glu40Ter) single nucleotide variant Pathogenic rs863225043 GRCh38 Chromosome 3, 33114195: 33114195
24 CRTAP NM_006371.4(CRTAP): c.118G> T (p.Glu40Ter) single nucleotide variant Pathogenic rs863225043 GRCh37 Chromosome 3, 33155687: 33155687
25 CRTAP NM_006371.4(CRTAP): c.1032T> G (p.Thr344=) single nucleotide variant Benign rs1135127 GRCh38 Chromosome 3, 33132664: 33132664
26 CRTAP NM_006371.4(CRTAP): c.1032T> G (p.Thr344=) single nucleotide variant Benign rs1135127 GRCh37 Chromosome 3, 33174156: 33174156
27 CRTAP NM_006371.4(CRTAP): c.1044G> A (p.Ser348=) single nucleotide variant Benign rs1135128 GRCh37 Chromosome 3, 33174168: 33174168
28 CRTAP NM_006371.4(CRTAP): c.1044G> A (p.Ser348=) single nucleotide variant Benign rs1135128 GRCh38 Chromosome 3, 33132676: 33132676
29 CRTAP NM_006371.4(CRTAP): c.641T> C (p.Val214Ala) single nucleotide variant Benign/Likely benign rs146124454 GRCh37 Chromosome 3, 33165919: 33165919
30 CRTAP NM_006371.4(CRTAP): c.641T> C (p.Val214Ala) single nucleotide variant Benign/Likely benign rs146124454 GRCh38 Chromosome 3, 33124427: 33124427
31 CRTAP NM_006371.4(CRTAP): c.732C> T (p.Leu244=) single nucleotide variant Conflicting interpretations of pathogenicity rs149119710 GRCh37 Chromosome 3, 33166010: 33166010
32 CRTAP NM_006371.4(CRTAP): c.732C> T (p.Leu244=) single nucleotide variant Conflicting interpretations of pathogenicity rs149119710 GRCh38 Chromosome 3, 33124518: 33124518
33 CRTAP NM_006371.4(CRTAP): c.143A> G (p.Tyr48Cys) single nucleotide variant Uncertain significance rs768012717 GRCh38 Chromosome 3, 33114220: 33114220
34 CRTAP NM_006371.4(CRTAP): c.143A> G (p.Tyr48Cys) single nucleotide variant Uncertain significance rs768012717 GRCh37 Chromosome 3, 33155712: 33155712
35 CRTAP NM_006371.4(CRTAP): c.446A> G (p.Lys149Arg) single nucleotide variant Uncertain significance rs201564256 GRCh38 Chromosome 3, 33114523: 33114523
36 CRTAP NM_006371.4(CRTAP): c.446A> G (p.Lys149Arg) single nucleotide variant Uncertain significance rs201564256 GRCh37 Chromosome 3, 33156015: 33156015
37 CRTAP NM_006371.4(CRTAP): c.636A> C (p.Arg212=) single nucleotide variant Likely benign rs749259974 GRCh37 Chromosome 3, 33165914: 33165914
38 CRTAP NM_006371.4(CRTAP): c.636A> C (p.Arg212=) single nucleotide variant Likely benign rs749259974 GRCh38 Chromosome 3, 33124422: 33124422
39 CRTAP NM_006371.4(CRTAP): c.451C> G (p.Leu151Val) single nucleotide variant Uncertain significance rs202118861 GRCh37 Chromosome 3, 33156020: 33156020
40 CRTAP NM_006371.4(CRTAP): c.451C> G (p.Leu151Val) single nucleotide variant Uncertain significance rs202118861 GRCh38 Chromosome 3, 33114528: 33114528
41 CRTAP NM_006371.4(CRTAP): c.1152+5G> C single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 33175762: 33175762
42 CRTAP NM_006371.4(CRTAP): c.1152+5G> C single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 33134270: 33134270
43 CRTAP NM_006371.4(CRTAP): c.1039C> T (p.Leu347Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs115198029 GRCh37 Chromosome 3, 33174163: 33174163
44 CRTAP NM_006371.4(CRTAP): c.1039C> T (p.Leu347Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs115198029 GRCh38 Chromosome 3, 33132671: 33132671
45 CRTAP NM_006371.4(CRTAP): c.396C> G (p.Ser132=) single nucleotide variant Likely benign GRCh37 Chromosome 3, 33155965: 33155965
46 CRTAP NM_006371.4(CRTAP): c.396C> G (p.Ser132=) single nucleotide variant Likely benign GRCh38 Chromosome 3, 33114473: 33114473
47 CRTAP NM_006371.4(CRTAP): c.444C> G (p.Tyr148Ter) single nucleotide variant Pathogenic rs972668240 GRCh37 Chromosome 3, 33156013: 33156013
48 CRTAP NM_006371.4(CRTAP): c.444C> G (p.Tyr148Ter) single nucleotide variant Pathogenic rs972668240 GRCh38 Chromosome 3, 33114521: 33114521
49 CRTAP NM_006371.4(CRTAP): c.456G> C (p.Gln152His) single nucleotide variant Uncertain significance rs779447329 GRCh37 Chromosome 3, 33156025: 33156025
50 CRTAP NM_006371.4(CRTAP): c.456G> C (p.Gln152His) single nucleotide variant Uncertain significance rs779447329 GRCh38 Chromosome 3, 33114533: 33114533

Expression for Osteogenesis Imperfecta, Type Vii

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

Pathways for Osteogenesis Imperfecta, Type Vii

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 COL1A1 COL1A2 CRTAP
2
Show member pathways
12.31 COL1A1 COL1A2 CRTAP
3 11.66 COL1A1 COL1A2
4 11.61 CD36 COL1A2
5
Show member pathways
11.61 CD36 COL1A1 COL1A2
6 11.54 COL1A1 COL1A2
7 11.52 COL1A1 COL1A2
8
Show member pathways
11.35 CD36 COL1A1 COL1A2
9 11.31 COL1A1 COL1A2
10 11.28 COL1A1 COL1A2
11 11.11 COL1A1 PTH1R
12 11.03 COL1A1 COL1A2
13 10.92 COL1A1 COL1A2
14 10.84 CD36 COL1A1 COL1A2
15 10.73 COL1A1 COL1A2
16 10.47 COL1A1 PTH1R
17 10.39 COL1A1 COL1A2 PTH1R

GO Terms for Osteogenesis Imperfecta, Type Vii

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.62 CD36 COL1A1 COL1A2 CRTAP
2 endoplasmic reticulum lumen GO:0005788 9.33 COL1A1 COL1A2 CRTAP
3 brush border membrane GO:0031526 9.26 CD36 PTH1R
4 collagen trimer GO:0005581 9.13 CD36 COL1A1 COL1A2
5 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cytosolic calcium ion concentration GO:0007204 9.49 CD36 PTH1R
2 platelet activation GO:0030168 9.48 COL1A1 COL1A2
3 ossification GO:0001503 9.46 COL1A1 PTH1R
4 collagen catabolic process GO:0030574 9.43 COL1A1 COL1A2
5 blood coagulation GO:0007596 9.43 CD36 COL1A1 COL1A2
6 blood vessel development GO:0001568 9.4 COL1A1 COL1A2
7 cellular response to amino acid stimulus GO:0071230 9.37 COL1A1 COL1A2
8 collagen fibril organization GO:0030199 9.32 COL1A1 COL1A2
9 protein heterotrimerization GO:0070208 9.16 COL1A1 COL1A2
10 skeletal system development GO:0001501 9.13 COL1A1 COL1A2 PTH1R
11 skin morphogenesis GO:0043589 8.62 COL1A1 COL1A2

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

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

Sources for Osteogenesis Imperfecta, Type Vii

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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