BCS1
MCID: BRT028
MIFTS: 39

Brittle Cornea Syndrome 1 (BCS1)

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

Aliases & Classifications for Brittle Cornea Syndrome 1

MalaCards integrated aliases for Brittle Cornea Syndrome 1:

Name: Brittle Cornea Syndrome 1 57 12 72 29 6 15
Fragilitas Oculi with Joint Hyperextensibility 57 72
Dysgenesis Mesodermalis Corneae Et Sclerae 57 72
Bcs1 57 72
Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility 57
Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility 72
Ehlers-Danlos Syndrome, Type Vib, Formerly; Eds6b, Formerly 57
Ehlers-Danlos Syndrome, Type Vib, Formerly 57
Ehlers-Danlos Syndrome Type Vib Formerly 72
Cornea, Brittle, Syndrome, Type 1 39
Ehlers-Danlos Syndrome, Type Vib 6
Type Vib Ehlers-Danlos Syndrome 12
Ehlers-Danlos Syndrome Type 6 44
Ehlers-Danlos Syndrome 6b 70
Eds6b, Formerly 57
Eds6b Formerly 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
brittle cornea syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Brittle Cornea Syndrome 1

UniProtKB/Swiss-Prot : 72 Brittle cornea syndrome 1: A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6).

MalaCards based summary : Brittle Cornea Syndrome 1, also known as fragilitas oculi with joint hyperextensibility, is related to brittle cornea syndrome and ehlers-danlos syndrome, and has symptoms including unspecified visual loss An important gene associated with Brittle Cornea Syndrome 1 is ZNF469 (Zinc Finger Protein 469). Affiliated tissues include eye, testis and bone, and related phenotypes are macrocephaly and scoliosis

Disease Ontology : 12 An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has material basis in homozygous mutation in the ZNF469 gene on chromosome 16q24.

OMIM® : 57 Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). (229200) (Updated 20-May-2021)

Related Diseases for Brittle Cornea Syndrome 1

Graphical network of the top 20 diseases related to Brittle Cornea Syndrome 1:



Diseases related to Brittle Cornea Syndrome 1

Symptoms & Phenotypes for Brittle Cornea Syndrome 1

Human phenotypes related to Brittle Cornea Syndrome 1:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 scoliosis 31 HP:0002650
3 hearing impairment 31 HP:0000365
4 epicanthus 31 HP:0000286
5 myopia 31 HP:0000545
6 atypical scarring of skin 31 HP:0000987
7 congenital hip dislocation 31 HP:0001374
8 joint laxity 31 HP:0001388
9 mitral valve prolapse 31 HP:0001634
10 disproportionate tall stature 31 HP:0001519
11 spondylolisthesis 31 HP:0003302
12 blue sclerae 31 HP:0000592
13 keratoconus 31 HP:0000563
14 red hair 31 HP:0002297
15 dentinogenesis imperfecta 31 HP:0000703
16 visual loss 31 HP:0000572
17 keratoglobus 31 HP:0001119
18 decreased corneal thickness 31 HP:0100689
19 palmoplantar cutis laxa 31 HP:0007517
20 molluscoid pseudotumors 31 HP:0000993

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly

Head And Neck Eyes:
myopia
blue sclerae
keratoconus
keratoglobus
vision loss
more
Skeletal:
joint laxity

Skin Nails Hair Hair:
red hair

Skin Nails Hair Skin:
scarring
excessive wrinkled skin (palms and soles)
molluscoid pseudotumor

Growth Other:
marfanoid habitus

Skeletal Spine:
scoliosis
spondylolisthesis

Skeletal Pelvis:
congenital hip dislocation

Cardiovascular Heart:
mitral valve prolapse

Head And Neck Teeth:
dentinogenesis imperfecta

Head And Neck Ears:
hearing loss

Laboratory Abnormalities:
normal lysl hydroxylase activity
normal dermal hydroxylysine content

Clinical features from OMIM®:

229200 (Updated 20-May-2021)

UMLS symptoms related to Brittle Cornea Syndrome 1:


unspecified visual loss

Drugs & Therapeutics for Brittle Cornea Syndrome 1

Search Clinical Trials , NIH Clinical Center for Brittle Cornea Syndrome 1

Cochrane evidence based reviews: ehlers-danlos syndrome type 6

Genetic Tests for Brittle Cornea Syndrome 1

Genetic tests related to Brittle Cornea Syndrome 1:

# Genetic test Affiliating Genes
1 Brittle Cornea Syndrome 1 29 ZNF469

Anatomical Context for Brittle Cornea Syndrome 1

MalaCards organs/tissues related to Brittle Cornea Syndrome 1:

40
Eye, Testis, Bone, Skin

Publications for Brittle Cornea Syndrome 1

Articles related to Brittle Cornea Syndrome 1:

(show top 50) (show all 76)
# Title Authors PMID Year
1
Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). 6 57
20938016 2010
2
Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. 6 57
19661234 2010
3
Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. 57 6
18452888 2008
4
Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). 6 57
7387950 1980
5
Dysgenesis mesodermalis corneae et sclerae. Rupture of both corneae in a patient with blue sclerae. 57 6
5755738 1968
6
More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. 6
33739556 2021
7
The 2017 international classification of the Ehlers-Danlos syndromes. 57
28306229 2017
8
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. 6
26373698 2016
9
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. 6
22581468 2012
10
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. 57
21664999 2011
11
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. 6
20842734 2010
12
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. 6
20533528 2010
13
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 6
20503305 2010
14
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. 6
20004762 2009
15
Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24. 57
17122114 2006
16
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. 6
16158441 2005
17
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation. 57
15523625 2004
18
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. 57
14679583 2004
19
Combination therapy of DDAVP and conjugated estrogens for a recurrent large subcutaneous hematoma in Ehlers-Danlos syndrome. 6
12508273 2003
20
A case with adducted thumb and club foot syndrome. 6
11666007 2001
21
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family. 6
11370633 2001
22
Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis? 6
10766984 2000
23
An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins. 6
9084938 1997
24
Syndrome of brittle cornea, blue sclera, and joint hyperextensibility. 57
2363420 1990
25
Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation. 57
2112090 1990
26
[Syndrome of blue sclerae and keratoglobus (ocular type of Ehlers-Danlos syndrome (author's transl)]. 57
304682 1977
27
Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity. 57
962660 1976
28
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin. 6
1184396 1975
29
Blue sclerae and keratoconus: key features of a distinct heritable disorder of connective tissue. 57
4691558 1973
30
Blue sclerae and keratoglobus. Ocular signs of a systemic connective tissue disorder. 57
5775573 1969
31
Brittle cornea. A familial trait associated with blue sclera. 57
4872990 1968
32
BLUE SCLERAS WITH KERATOGLOBUS. 57
14218178 1964
33
Blue sclerotics syndrome simulating buphthaimos. 57
13627089 1959
34
Natural population re-sequencing detects the genetic basis of local adaptation to low temperature in a woody plant. 61
33651261 2021
35
Strip-grazing: Reduces pony dry matter intakes and changes in bodyweight and morphometrics. 61
33369770 2020
36
Dual targeting of TatA points to a chloroplast-like Tat pathway in plant mitochondria. 61
32768405 2020
37
Structural snapshots of the cellular folded protein translocation machinery Bcs1. 61
32979284 2020
38
Artemisinin and its derivatives target mitochondrial c-type cytochromes in yeast and human cells. 61
31987792 2020
39
The Plant Mitochondrial TAT Pathway Is Essential for Complex III Biogenesis. 61
32084398 2020
40
Structure of the Bcs1 AAA-ATPase suggests an airlock-like translocation mechanism for folded proteins. 61
31988523 2020
41
Structures of AAA protein translocase Bcs1 suggest translocation mechanism of a folded protein. 61
32042153 2020
42
Long-Term Outcome in Gastric Cancer Patients with Different Body Composition Score Assessed via Computed Tomography. 61
31994947 2020
43
Quantitative Proteomic Profiling of Mitochondrial Toxicants in a Human Cardiomyocyte Cell Line. 61
32733541 2020
44
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. 61
31435670 2019
45
Potential for pharmaceutical excipients to impact absorption: A mechanistic review for BCS Class 1 and 3 drugs. 61
31128247 2019
46
Genome sequence and characterization of the bcs clusters for the production of nanocellulose from the low pH resistant strain Komagataeibacter medellinensis ID13488. 61
30793484 2019
47
Integrated bioinformatics analysis of As, Au, Cd, Pb and Cu heavy metal responsive marker genes through Arabidopsis thaliana GEO datasets. 61
30918749 2019
48
Use of an onlay corneal lamellar graft for brittle cornea syndrome. 61
30115710 2018
49
Analysis of changes in volatile constituents and expression of genes involved in terpenoid metabolism in oleocellosis peel. 61
29146338 2018
50
Transfer of Downy Mildew Resistance from Wild Basil (Ocimum americanum) to Sweet Basil (O. basilicum). 61
29083273 2018

Variations for Brittle Cornea Syndrome 1

ClinVar genetic disease variations for Brittle Cornea Syndrome 1:

6 (show top 50) (show all 333)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHST14 NM_130468.3(CHST14):c.403C>G (p.Arg135Gly) SNV Pathogenic 446172 rs267606727 GRCh37: 15:40763815-40763815
GRCh38: 15:40471616-40471616
2 CHST14 NM_130468.3(CHST14):c.205A>T (p.Lys69Ter) SNV Pathogenic 2341 rs267606730 GRCh37: 15:40763617-40763617
GRCh38: 15:40471418-40471418
3 CHST14 NM_130468.3(CHST14):c.866G>C (p.Cys289Ser) SNV Pathogenic 2342 rs267606731 GRCh37: 15:40764278-40764278
GRCh38: 15:40472079-40472079
4 CHST14 NM_130468.3(CHST14):c.981_1000dup (p.Glu334fs) Duplication Pathogenic 18421 rs1555410785 GRCh37: 15:40764391-40764392
GRCh38: 15:40472192-40472193
5 CHST14 NM_130468.3(CHST14):c.821G>C (p.Arg274Pro) SNV Pathogenic 50992 rs397514706 GRCh37: 15:40764233-40764233
GRCh38: 15:40472034-40472034
6 CHST14 NM_130468.3(CHST14):c.453dup (p.Cys152fs) Duplication Pathogenic 446173 rs1555410747 GRCh37: 15:40763864-40763865
GRCh38: 15:40471665-40471666
7 ZNF469 NM_001367624.2(ZNF469):c.6027del (p.Gly2011fs) Deletion Pathogenic 730 rs1597210953 GRCh37: 16:88499905-88499905
GRCh38: 16:88433497-88433497
8 ZNF469 NM_001367624.2(ZNF469):c.9615del (p.Gln3206fs) Deletion Pathogenic 731 GRCh37: 16:88503489-88503489
GRCh38: 16:88437081-88437081
9 ZNF469 NM_001367624.1(ZNF469):c.10100G>A (p.Cys3367Tyr) SNV Pathogenic 30942 rs387907062 GRCh37: 16:88503978-88503978
GRCh38: 16:88437570-88437570
10 ZNF469 NM_001367624.1(ZNF469):c.4258G>T (p.Glu1420Ter) SNV Pathogenic 30943 rs387907063 GRCh37: 16:88498136-88498136
GRCh38: 16:88431728-88431728
11 ZNF469 NM_001367624.2(ZNF469):c.1444del (p.Leu482fs) Deletion Pathogenic 981037 GRCh37: 16:88495317-88495317
GRCh38: 16:88428909-88428909
12 ZNF469 NM_001367624.2(ZNF469):c.3307C>T (p.Gln1103Ter) SNV Pathogenic 981041 GRCh37: 16:88497185-88497185
GRCh38: 16:88430777-88430777
13 CHST14 NM_130468.3(CHST14):c.842C>T (p.Pro281Leu) SNV Pathogenic 2340 rs267606729 GRCh37: 15:40764254-40764254
GRCh38: 15:40472055-40472055
14 CHST14 NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) SNV Pathogenic 2339 rs121908258 GRCh37: 15:40764290-40764290
GRCh38: 15:40472091-40472091
15 CHST14 NM_130468.3(CHST14):c.638G>C (p.Arg213Pro) SNV Pathogenic 2337 rs121908257 GRCh37: 15:40764050-40764050
GRCh38: 15:40471851-40471851
16 CHST14 NM_130468.3(CHST14):c.145del (p.Ala48_Val49insTer) Deletion Pathogenic 2336 rs397518432 GRCh37: 15:40763556-40763556
GRCh38: 15:40471357-40471357
17 ZNF469 NM_001367624.2(ZNF469):c.5661_5668del (p.His1888fs) Deletion Pathogenic 1031850 GRCh37: 16:88499539-88499546
GRCh38: 16:88433131-88433138
18 ZNF469 NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs) Duplication Likely pathogenic 981038 GRCh37: 16:88503753-88503754
GRCh38: 16:88437345-88437346
19 ZNF469 NM_001367624.2(ZNF469):c.1081del (p.Ala361fs) Deletion Likely pathogenic 981039 GRCh37: 16:88494959-88494959
GRCh38: 16:88428551-88428551
20 ZNF469 NM_001367624.2(ZNF469):c.1586del (p.Gly529fs) Deletion Likely pathogenic 981040 GRCh37: 16:88495462-88495462
GRCh38: 16:88429054-88429054
21 ZNF469 NM_001367624.1(ZNF469):c.11221G>A (p.Gly3741Ser) SNV Uncertain significance 387472 rs745385522 GRCh37: 16:88505099-88505099
GRCh38: 16:88438691-88438691
22 ZNF469 NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp) SNV Uncertain significance 523411 rs1555518955 GRCh37: 16:88496447-88496447
GRCh38: 16:88430039-88430039
23 ZNF469 NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser) SNV Uncertain significance 523412 rs887755283 GRCh37: 16:88503410-88503410
GRCh38: 16:88437002-88437002
24 ZNF469 NM_001367624.1(ZNF469):c.11821A>C (p.Thr3941Pro) SNV Uncertain significance 545672 rs1555520642 GRCh37: 16:88505699-88505699
GRCh38: 16:88439291-88439291
25 ZNF469 NM_001367624.1(ZNF469):c.1483C>T (p.Pro495Ser) SNV Uncertain significance 429651 rs202205643 GRCh37: 16:88495361-88495361
GRCh38: 16:88428953-88428953
26 ZNF469 NM_001367624.1(ZNF469):c.1856G>T (p.Ser619Ile) SNV Uncertain significance 453138 rs1187845779 GRCh37: 16:88495734-88495734
GRCh38: 16:88429326-88429326
27 ZNF469 NM_001367624.1(ZNF469):c.3452C>T (p.Ala1151Val) SNV Uncertain significance 426116 rs755348435 GRCh37: 16:88497330-88497330
GRCh38: 16:88430922-88430922
28 ZNF469 NM_001367624.1(ZNF469):c.4829G>A (p.Arg1610His) SNV Uncertain significance 284987 rs567038987 GRCh37: 16:88498707-88498707
GRCh38: 16:88432299-88432299
29 ZNF469 NM_001367624.1(ZNF469):c.4952A>G (p.Gln1651Arg) SNV Uncertain significance 195119 rs773925755 GRCh37: 16:88498830-88498830
GRCh38: 16:88432422-88432422
30 ZNF469 NM_001367624.1(ZNF469):c.5914G>A (p.Gly1972Arg) SNV Uncertain significance 373813 rs766410344 GRCh37: 16:88499792-88499792
GRCh38: 16:88433384-88433384
31 ZNF469 NM_001367624.1(ZNF469):c.8705C>T (p.Thr2902Met) SNV Uncertain significance 429662 rs536725615 GRCh37: 16:88502583-88502583
GRCh38: 16:88436175-88436175
32 ZNF469 NM_001367624.1(ZNF469):c.8788G>T (p.Asp2930Tyr) SNV Uncertain significance 419986 rs76792613 GRCh37: 16:88502666-88502666
GRCh38: 16:88436258-88436258
33 ZNF469 NM_001367624.1(ZNF469):c.9368G>A (p.Arg3123His) SNV Uncertain significance 424173 rs536601676 GRCh37: 16:88503246-88503246
GRCh38: 16:88436838-88436838
34 ZNF469 NM_001367624.1(ZNF469):c.10888C>T (p.Arg3630Cys) SNV Uncertain significance 421677 rs200668806 GRCh37: 16:88504766-88504766
GRCh38: 16:88438358-88438358
35 ZNF469 NM_001367624.1(ZNF469):c.5114C>T (p.Thr1705Ile) SNV Uncertain significance 626208 rs768667107 GRCh37: 16:88498992-88498992
GRCh38: 16:88432584-88432584
36 ZNF469 NM_001367624.1(ZNF469):c.4892G>A (p.Gly1631Glu) SNV Uncertain significance 320931 rs755244502 GRCh37: 16:88498770-88498770
GRCh38: 16:88432362-88432362
37 ZNF469 NM_001367624.1(ZNF469):c.2085C>T (p.Pro695=) SNV Uncertain significance 320881 rs74547407 GRCh37: 16:88495963-88495963
GRCh38: 16:88429555-88429555
38 ZNF469 NM_001367624.1(ZNF469):c.98C>T (p.Pro33Leu) SNV Uncertain significance 320848 rs752770883 GRCh37: 16:88493976-88493976
GRCh38: 16:88427568-88427568
39 ZNF469 NM_001367624.1(ZNF469):c.2931C>T (p.Gly977=) SNV Uncertain significance 320897 rs539527724 GRCh37: 16:88496809-88496809
GRCh38: 16:88430401-88430401
40 ZNF469 NM_001367624.1(ZNF469):c.8625G>A (p.Pro2875=) SNV Uncertain significance 320990 rs138771545 GRCh37: 16:88502503-88502503
GRCh38: 16:88436095-88436095
41 ZNF469 NM_001367624.1(ZNF469):c.3950A>G (p.Lys1317Arg) SNV Uncertain significance 320915 rs772817384 GRCh37: 16:88497828-88497828
GRCh38: 16:88431420-88431420
42 ZNF469 NM_001367624.1(ZNF469):c.8430G>A (p.Ala2810=) SNV Uncertain significance 320988 rs574024256 GRCh37: 16:88502308-88502308
GRCh38: 16:88435900-88435900
43 ZNF469 NM_001367624.1(ZNF469):c.*492G>A SNV Uncertain significance 321044 rs190108769 GRCh37: 16:88506232-88506232
GRCh38: 16:88439824-88439824
44 ZNF469 NM_001367624.1(ZNF469):c.*420G>A SNV Uncertain significance 321041 rs45532839 GRCh37: 16:88506160-88506160
GRCh38: 16:88439752-88439752
45 ZNF469 NM_001367624.1(ZNF469):c.4778C>T (p.Ser1593Leu) SNV Uncertain significance 320928 rs768864900 GRCh37: 16:88498656-88498656
GRCh38: 16:88432248-88432248
46 ZNF469 NM_001367624.1(ZNF469):c.4479G>A (p.Pro1493=) SNV Uncertain significance 320925 rs373162171 GRCh37: 16:88498357-88498357
GRCh38: 16:88431949-88431949
47 ZNF469 NM_001367624.1(ZNF469):c.*1348G>A SNV Uncertain significance 321067 rs886052428 GRCh37: 16:88507088-88507088
GRCh38: 16:88440680-88440680
48 ZNF469 NM_001367624.1(ZNF469):c.6846C>T (p.Ala2282=) SNV Uncertain significance 320961 rs748097865 GRCh37: 16:88500724-88500724
GRCh38: 16:88434316-88434316
49 ZNF469 NM_001367624.1(ZNF469):c.699C>T (p.Asp233=) SNV Uncertain significance 320856 rs886052391 GRCh37: 16:88494577-88494577
GRCh38: 16:88428169-88428169
50 ZNF469 NM_001367624.1(ZNF469):c.3472C>T (p.Pro1158Ser) SNV Uncertain significance 320907 rs184894059 GRCh37: 16:88497350-88497350
GRCh38: 16:88430942-88430942

Expression for Brittle Cornea Syndrome 1

Search GEO for disease gene expression data for Brittle Cornea Syndrome 1.

Pathways for Brittle Cornea Syndrome 1

GO Terms for Brittle Cornea Syndrome 1

Sources for Brittle Cornea Syndrome 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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