OI8
MCID: OST118
MIFTS: 42

Osteogenesis Imperfecta, Type Viii (OI8)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Viii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Viii:

Name: Osteogenesis Imperfecta, Type Viii 57 13
Osteogenesis Imperfecta Type 8 12 20 29 6 15
Osteogenesis Imperfecta Type Viii 12 20 73 39
Oi8 57 12 20 73
Oi Type Viii 20 73
Osteogenesis Imperfecta 8 73
Oi, Type Viii 57
Oi-Viii 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
osteogenesis imperfecta, type viii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Viii

OMIM® : 57 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) (Updated 05-Mar-2021)

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 Degradation of the extracellular matrix. Affiliated tissues include bone, and related phenotypes are scoliosis and kyphosis

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

UniProtKB/Swiss-Prot : 73 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 Iii family:

Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Iv 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
Osteogenesis Imperfecta, Type Xx Osteogenesis Imperfecta, Type Xxi

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type ii 31.7 P3H1 CRTAP
2 brittle bone disorder 29.8 P4HA2 P3H2 P3H1 CRTAP
3 retinal detachment 10.1
4 autosomal recessive disease 10.1
5 osteogenesis imperfecta, type vii 10.1 P3H1 CRTAP
6 fibrogenesis imperfecta ossium 10.0 P3H1 CRTAP
7 boomerang dysplasia 10.0 P3H1 CRTAP
8 mucopolysaccharidosis iv 10.0 P3H1 CRTAP
9 bruck syndrome 10.0 P3H1 CRTAP
10 spondylocarpotarsal synostosis syndrome 10.0 P3H1 CRTAP
11 osteogenesis imperfecta, type iv 9.9 P3H1 CRTAP
12 dentinogenesis imperfecta 9.9 P3H1 CRTAP
13 osteogenesis imperfecta, type x 9.9 P4HA3 P3H2
14 osteogenesis imperfecta, type iii 9.8 P3H1 CRTAP
15 cole-carpenter syndrome 9.8 P4HA2 P3H1 CRTAP
16 bone development disease 9.7 P3H1 CRTAP
17 odontochondrodysplasia 9.7 P3H2 P3H1 CRTAP

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:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 osteopenia 31 HP:0000938
4 global developmental delay 31 HP:0001263
5 inguinal hernia 31 HP:0000023
6 slender long bone 31 HP:0003100
7 joint laxity 31 HP:0001388
8 platyspondyly 31 HP:0000926
9 recurrent fractures 31 HP:0002757
10 proptosis 31 HP:0000520
11 round face 31 HP:0000311
12 wormian bones 31 HP:0002645
13 wide anterior fontanel 31 HP:0000260
14 short metacarpal 31 HP:0010049
15 delayed cranial suture closure 31 HP:0000270
16 disproportionate short-limb short stature 31 HP:0008873
17 decreased skull ossification 31 HP:0004331
18 thin ribs 31 HP:0000883
19 femoral bowing 31 HP:0002980
20 vertebral compression fractures 31 HP:0002953
21 tibial bowing 31 HP:0002982
22 radial bowing 31 HP:0002986
23 barrel-shaped chest 31 HP:0001552
24 multiple prenatal fractures 31 HP:0005855
25 externally rotated/abducted legs 31 HP:0003783
26 type 1 collagen overmodification 31 HP:0003784

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
kyphosis
platyspondyly
vertebral compression fractures

Head And Neck Eyes:
proptosis
white sclerae

Skeletal Skull:
wormian bones
poorly ossified skull

Skeletal Limbs:
femoral bowing
tibial bowing
radial bowing
externally rotated/abducted legs
thin, gracile long bones
more
Skeletal Hands:
short metacarpals
long phalanges

Neurologic Central Nervous System:
delayed development

Head And Neck Teeth:
no dentinogenesis imperfecta

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

Head And Neck Face:
round face

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

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

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

Clinical features from OMIM®:

610915 (Updated 05-Mar-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.28 P3H1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.28 P3H1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.28 P3H2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.28 P3H1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.28 P3H1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.28 P3H1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.28 P3H2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.28 P3H2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.28 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 29 P3H1

Anatomical Context for Osteogenesis Imperfecta, Type Viii

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

40
Bone

Publications for Osteogenesis Imperfecta, Type Viii

Articles related to Osteogenesis Imperfecta, Type Viii:

(show all 12)
# Title Authors PMID Year
1
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. 57 6
22281939 2012
2
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. 6 57
19088120 2009
3
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. 57 6
17277775 2007
4
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. 57
8100856 1993
5
Osteogenesis imperfecta type III: an ancient mutation in Africa? 57
3425600 1987
6
Genetic heterogeneity in osteogenesis imperfecta. 57
458828 1979
7
A new case of osteogenesis imperfecta type VIII and retinal detachment. 61
33098264 2021
8
Osteogenesis imperfecta type VIII: Association with increased nuchal translucency and prenatal diagnosis by targeted exome sequencing. 61
30322678 2019
9
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. 61
30269195 2018
10
Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta. 61
30117226 2018
11
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII. 61
27864101 2017
12
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene. 61
23301918 2013

Variations for Osteogenesis Imperfecta, Type Viii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Viii:

6 (show top 50) (show all 175)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 P3H1 NM_022356.3(P3H1):c.1080+1G>T SNV Pathogenic 1253 rs72659351 1:43223453-43223453 1:42757782-42757782
2 P3H1 NM_022356.3(P3H1):c.1473+1G>T SNV Pathogenic 1254 rs72659354 1:43218207-43218207 1:42752536-42752536
3 P3H1 NM_022356.3(P3H1):c.747del (p.Tyr250fs) Deletion Pathogenic 1255 rs72659348 1:43224933-43224933 1:42759262-42759262
4 P3H1 NM_022356.3(P3H1):c.1656C>A (p.Tyr552Ter) SNV Pathogenic 1256 rs72659355 1:43215921-43215921 1:42750250-42750250
5 P3H1 NM_022356.3(P3H1):c.1365_1366delinsC (p.Glu455fs) Indel Pathogenic 1257 rs137853952 1:43218315-43218316 1:42752644-42752645
6 P3H1 NM_022356.3(P3H1):c.1102C>T (p.Arg368Ter) SNV Pathogenic 1258 rs118203996 1:43221287-43221287 1:42755616-42755616
7 P3H1 NM_001146289.1(P3H1):c.570_571del (p.Gly191fs) Deletion Pathogenic 522436 rs1553143741 1:43228041-43228042 1:42762370-42762371
8 P3H1 NM_022356.3(P3H1):c.646_650del (p.Tyr216fs) Deletion Pathogenic 522681 rs1553143142 1:43225030-43225034 1:42759359-42759363
9 P3H1 NM_022356.3(P3H1):c.1060A>T (p.Arg354Ter) SNV Pathogenic 655208 rs1570472113 1:43223474-43223474 1:42757803-42757803
10 P3H1 NM_022356.3(P3H1):c.1222A>T (p.Lys408Ter) SNV Pathogenic 566925 rs1557569037 1:43220837-43220837 1:42755166-42755166
11 P3H1 NM_022356.3(P3H1):c.1459C>T (p.Gln487Ter) SNV Pathogenic 664730 rs1229143002 1:43218222-43218222 1:42752551-42752551
12 P3H1 NM_022356.4(P3H1):c.1856del (p.Asn619fs) Deletion Pathogenic 653499 rs1570454914 1:43213452-43213452 1:42747781-42747781
13 P3H1 NM_022356.3(P3H1):c.1346-1G>C SNV Pathogenic 284532 rs886042897 1:43218336-43218336 1:42752665-42752665
14 P3H1 NM_022356.4(P3H1):c.1226C>G (p.Ser409Ter) SNV Pathogenic 860818 1:43220659-43220659 1:42754988-42754988
15 P3H1 NM_022356.4(P3H1):c.664C>T (p.Gln222Ter) SNV Pathogenic 994259 1:43225016-43225016 1:42759345-42759345
16 P3H1 NM_022356.4(P3H1):c.1839-2A>C SNV Likely pathogenic 982090 1:43213471-43213471 1:42747800-42747800
17 P3H1 NM_022356.3(P3H1):c.940+1G>T SNV Likely pathogenic 566929 rs762525651 1:43224522-43224522 1:42758851-42758851
18 P3H1 NM_022356.3(P3H1):c.1171-2A>T SNV Likely pathogenic 571428 rs1013320485 1:43220890-43220890 1:42755219-42755219
19 P3H1 NM_022356.3(P3H1):c.232C>T (p.Gln78Ter) SNV Likely pathogenic 635408 rs1330779100 1:43232411-43232411 1:42766740-42766740
20 P3H1 NM_022356.3(P3H1):c.2055+18G>A SNV Likely pathogenic 1259 rs137853890 1:43212925-43212925 1:42747254-42747254
21 P3H1 NM_022356.3(P3H1):c.1428C>T (p.Gly476=) SNV Conflicting interpretations of pathogenicity 468968 rs141786883 1:43218253-43218253 1:42752582-42752582
22 P3H1 NM_022356.3(P3H1):c.1930C>A (p.Gln644Lys) SNV Conflicting interpretations of pathogenicity 468979 rs3738497 1:43213068-43213068 1:42747397-42747397
23 P3H1 NM_022356.3(P3H1):c.1721-4C>T SNV Conflicting interpretations of pathogenicity 282080 rs200901466 1:43213992-43213992 1:42748321-42748321
24 P3H1 NM_022356.3(P3H1):c.1504G>C (p.Gly502Arg) SNV Conflicting interpretations of pathogenicity 426382 rs139259804 1:43218010-43218010 1:42752339-42752339
25 P3H1 NM_022356.3(P3H1):c.1322A>G (p.Asp441Gly) SNV Conflicting interpretations of pathogenicity 283522 rs113593896 1:43220563-43220563 1:42754892-42754892
26 P3H1 NM_022356.4(P3H1):c.2055+30_2055+31insCGAGCGGGTGAGAGCAGCT Insertion Uncertain significance 994189 1:43212912-43212913 1:42747241-42747242
27 P3H1 NM_022356.3(P3H1):c.1616A>G (p.Tyr539Cys) SNV Uncertain significance 536812 rs772654104 1:43215961-43215961 1:42750290-42750290
28 P3H1 NM_022356.3(P3H1):c.1963A>G (p.Thr655Ala) SNV Uncertain significance 650310 rs138939786 1:43213035-43213035 1:42747364-42747364
29 P3H1 NM_022356.4(P3H1):c.1829G>A (p.Arg610His) SNV Uncertain significance 994299 1:43213880-43213880 1:42748209-42748209
30 P3H1 NM_022356.3(P3H1):c.1806A>C (p.Lys602Asn) SNV Uncertain significance 429864 rs144336336 1:43213903-43213903 1:42748232-42748232
31 P3H1 NM_022356.4(P3H1):c.310del (p.Leu104fs) Deletion Uncertain significance 982713 1:43232333-43232333 1:42766662-42766662
32 P3H1 NM_022356.4(P3H1):c.1944C>T (p.Ala648=) SNV Uncertain significance 875524 1:43213054-43213054 1:42747383-42747383
33 P3H1 NM_022356.4(P3H1):c.1247G>A (p.Arg416His) SNV Uncertain significance 875585 1:43220638-43220638 1:42754967-42754967
34 P3H1 NM_022356.4(P3H1):c.7G>A (p.Val3Ile) SNV Uncertain significance 875633 1:43232636-43232636 1:42766965-42766965
35 P3H1 NM_022356.4(P3H1):c.*262C>T SNV Uncertain significance 873597 1:43212106-43212106 1:42746435-42746435
36 P3H1 NM_022356.4(P3H1):c.1639C>T (p.Arg547Cys) SNV Uncertain significance 873653 1:43215938-43215938 1:42750267-42750267
37 P3H1 NM_022356.4(P3H1):c.826C>G (p.Leu276Val) SNV Uncertain significance 873725 1:43224637-43224637 1:42758966-42758966
38 P3H1 NM_022356.4(P3H1):c.807A>G (p.Thr269=) SNV Uncertain significance 873727 1:43224873-43224873 1:42759202-42759202
39 P3H1 NM_022356.4(P3H1):c.2108T>C (p.Met703Thr) SNV Uncertain significance 874596 1:43212471-43212471 1:42746800-42746800
40 P3H1 NM_022356.3(P3H1):c.326T>G (p.Phe109Cys) SNV Uncertain significance 468982 rs761389160 1:43232317-43232317 1:42766646-42766646
41 P3H1 NM_022356.4(P3H1):c.618+10del Deletion Uncertain significance 468986 rs760593141 1:43227984-43227984 1:42762313-42762313
42 P3H1 NM_022356.3(P3H1):c.566T>C (p.Met189Thr) SNV Uncertain significance 468984 rs776145937 1:43228046-43228046 1:42762375-42762375
43 P3H1 NM_022356.3(P3H1):c.1720+4G>A SNV Uncertain significance 468972 rs371232413 1:43215853-43215853 1:42750182-42750182
44 P3H1 NM_022356.3(P3H1):c.1660C>T (p.Arg554Cys) SNV Uncertain significance 468971 rs138860050 1:43215917-43215917 1:42750246-42750246
45 P3H1 NM_022356.3(P3H1):c.689C>T (p.Ala230Val) SNV Uncertain significance 289859 rs369342678 1:43224991-43224991 1:42759320-42759320
46 P3H1 NM_022356.3(P3H1):c.1412G>T (p.Arg471Leu) SNV Uncertain significance 468967 rs377645905 1:43218269-43218269 1:42752598-42752598
47 P3H1 NM_022356.3(P3H1):c.1246C>T (p.Arg416Cys) SNV Uncertain significance 468964 rs199597388 1:43220639-43220639 1:42754968-42754968
48 P3H1 NM_022356.3(P3H1):c.1339C>T (p.Arg447Trp) SNV Uncertain significance 468966 rs150951532 1:43220546-43220546 1:42754875-42754875
49 P3H1 NM_022356.3(P3H1):c.1840G>T (p.Ala614Ser) SNV Uncertain significance 468978 rs868224632 1:43213468-43213468 1:42747797-42747797
50 P3H1 NM_022356.3(P3H1):c.426G>T (p.Lys142Asn) SNV Uncertain significance 468983 rs200334947 1:43232217-43232217 1:42766546-42766546

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 P4HA3 P4HA2 P3H2 P3H1 CRTAP
2
Show member pathways
11.67 P4HA3 P4HA2 P3H2 P3H1 CRTAP
3
Show member pathways
10.92 P4HA3 P4HA2

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 9.35 P4HA3 P4HA2 P3H2 P3H1 CRTAP
2 endoplasmic reticulum lumen GO:0005788 9.02 P4HA3 P4HA2 P3H2 P3H1 CRTAP

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.62 P4HA3 P4HA2 P3H2 P3H1
2 chaperone-mediated protein folding GO:0061077 9.37 P3H1 CRTAP
3 collagen metabolic process GO:0032963 9.26 P3H2 P3H1
4 peptidyl-proline hydroxylation to 4-hydroxy-L-proline GO:0018401 9.16 P4HA3 P4HA2
5 negative regulation of post-translational protein modification GO:1901874 8.96 P3H1 CRTAP
6 peptidyl-proline hydroxylation GO:0019511 8.92 P4HA3 P4HA2 P3H2 P3H1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.71 P4HA3 P4HA2 P3H2 P3H1
2 iron ion binding GO:0005506 9.56 P4HA3 P4HA2 P3H2 P3H1
3 collagen binding GO:0005518 9.46 P3H1 CRTAP
4 dioxygenase activity GO:0051213 9.46 P4HA3 P4HA2 P3H2 P3H1
5 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.43 P4HA3 P4HA2
6 procollagen-proline 4-dioxygenase activity GO:0004656 9.37 P4HA3 P4HA2
7 procollagen-proline 3-dioxygenase activity GO:0019797 9.32 P3H2 P3H1
8 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.26 P4HA3 P4HA2 P3H2 P3H1
9 L-ascorbic acid binding GO:0031418 8.92 P4HA3 P4HA2 P3H2 P3H1

Sources for Osteogenesis Imperfecta, Type Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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