EDSKSCL2
MCID: EHL084
MIFTS: 35

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 (EDSKSCL2)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2:

Name: Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 57 72
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 57 29 13 6 70
Edskscl2 57 72
Edskmh 57 72
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss; Edskmh 57
Ehlers-Danlos Syndrome, with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 72
Ehlers-Danlos Syndrome with Kyphoscoliosis, Myopathy, and Hearing Loss 58
Ehlers-Danlos Syndrome with Kyphoscoliosis, Myopathy, and Deafness 58
Kyphoscoliotic Ehlers-Danlos Syndrome Due to Fkbp22 Deficiency 58
Ehlers-Danlos Syndrome, Kyphoscoliotic, Type 2 39
Ehlers-Danlos Syndrome Kyphoscoliotic Type 2 12
Kyphoscoliotic Eds Due to Fkbp22 Deficiency 58
Fkbp22-Deficient Eds 58
Fkbp14-Related Eds 58
Keds-Fkbp14 58

Characteristics:

Orphanet epidemiological data:

58
kyphoscoliotic ehlers-danlos syndrome due to fkbp22 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
variable phenotype
electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood


HPO:

31
ehlers-danlos syndrome, kyphoscoliotic type, 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

UniProtKB/Swiss-Prot : 72 Ehlers-Danlos syndrome, kyphoscoliotic type, 2: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion in urine.

MalaCards based summary : Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2, also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, is related to kyphoscoliotic ehlers-danlos syndrome and ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 is FKBP14 (FKBP Prolyl Isomerase 14). Affiliated tissues include eye, skeletal muscle and skin, and related phenotypes are pes planus and sensorineural hearing impairment

Disease Ontology : 12 An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has material basis in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15.

OMIM® : 57 Ehlers-Danlos syndrome kyphoscoliotic type 2 is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine (Baumann et al., 2012). For a discussion of genetic heterogeneity of the kyphoscoliotic type of EDS, see 225400. (614557) (Updated 20-May-2021)

Related Diseases for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2:



Diseases related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

Human phenotypes related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
4 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
5 myopia 58 31 hallmark (90%) Frequent (79-30%) HP:0000545
6 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
7 kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002751
8 joint hypermobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001382
9 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
10 severe muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006829
11 poor head control 58 31 hallmark (90%) Very frequent (99-80%) HP:0002421
12 follicular hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007502
13 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
14 hernia 58 31 frequent (33%) Frequent (79-30%) HP:0100790
15 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
16 easy fatigability 58 31 frequent (33%) Frequent (79-30%) HP:0003388
17 bruising susceptibility 58 31 occasional (7.5%) Frequent (79-30%) HP:0000978
18 atrophic scars 58 31 frequent (33%) Frequent (79-30%) HP:0001075
19 arterial rupture 58 31 occasional (7.5%) Occasional (29-5%) HP:0025019
20 inguinal hernia 31 occasional (7.5%) HP:0000023
21 umbilical hernia 31 occasional (7.5%) HP:0001537
22 talipes equinovarus 31 occasional (7.5%) HP:0001762
23 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
24 bladder diverticulum 31 occasional (7.5%) HP:0000015
25 cleft soft palate 31 occasional (7.5%) HP:0000185
26 disproportionate tall stature 58 31 very rare (1%) Very rare (<4-1%) HP:0001519
27 microcornea 58 31 very rare (1%) Very rare (<4-1%) HP:0000482
28 mixed hearing impairment 31 very rare (1%) HP:0000410
29 atlantoaxial instability 31 very rare (1%) HP:0003467
30 aortic rupture 31 very rare (1%) HP:0031649
31 muscle weakness 58 Frequent (79-30%)
32 soft skin 31 HP:0000977
33 abnormality of the globe 58 Occasional (29-5%)
34 high-frequency sensorineural hearing impairment 31 HP:0001757
35 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes planus
hypermobility of small joints
club foot (in some patients)

Muscle Soft Tissue:
muscular atrophy
severe muscle hypotonia at birth
poor head control in infancy
muscular weakness, improving in infancy (medical research council muscle score of 3 to 4)
myopathy, mild to severe
more
Head And Neck Ears:
hearing loss, mixed (in some patients)
hearing loss, conductive (in some patients)
hearing loss, sensorineural, high-frequency

Genitourinary External Genitalia Male:
inguinal hernia (in some patients)

Skeletal Hands:
hypermobility of small joints

Head And Neck Face:
retrogenia in infancy (in some patients)

Head And Neck Mouth:
cleft soft palate (in some patients)

Respiratory Lung:
restrictive ventilation disorder due to severe scoliosis (in some patients)

Skeletal Spine:
kyphoscoliosis, progressive

Skin Nails Hair Skin Electron Microscopy:
endoplasmic reticulum cisterns dilated and filled with flocculent material in skin fibroblasts
collagen fibrils normal in shape and diameter

Laboratory Abnormalities:
normal pyridinoline excretion in urine

Skin Nails Hair Skin:
follicular hyperkeratosis
soft skin
hyperelastic skin
plantar softness
easy bruising (in some patients)
more
Neurologic Central Nervous System:
delayed motor development
walking independently at 2.5 years to 4 years of age

Abdomen External Features:
inguinal hernia (in some patients)
umbilical hernia (in some patients)
redundant umbilical skin (in some patients)

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)
aortic rupture (rare)
hypogastric artery rupture (rare)

Skeletal:
fractures (rare)
hypermobility of large and small joints (beighton score ranging from 6/9 to 9/9)
dislocations, recurrent (rare)
osteopenia, mild to moderate
atlantoaxial instability (rare)

Head And Neck Eyes:
myopia (in most patients)
bluish sclerae in infancy (rare)

Cardiovascular Heart:
insufficiency of tricuspid valve (in some patients)
insufficiency of mitral valve (rare)

Genitourinary Bladder:
bladder diverticulum (in some patients)

Skeletal Limbs:
hypermobility of large joints

Prenatal Manifestations Movement:
decreased movements in utero (in some patients)

Clinical features from OMIM®:

614557 (Updated 20-May-2021)

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

Genetic Tests for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

Genetic tests related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 29 FKBP14

Anatomical Context for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2:

40
Eye, Skeletal Muscle, Skin

Publications for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

Articles related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2:

# Title Authors PMID Year
1
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. 57 6 61
22265013 2012
2
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. 57 6
28617417 2018
3
Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review. 57 6
27149304 2016
4
Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome. 57 6
24773188 2014
5
Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype. 6
27905128 2017
6
FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications. 6
24677762 2014
7
Genotype-based databases for variants causing rare diseases. 61
25111118 2014

Variations for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2:

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FKBP14 NM_017946.4(FKBP14):c.42_60del (p.Val14_Thr15insTer) Deletion Pathogenic 31198 rs770271683 GRCh37: 7:30066065-30066083
GRCh38: 7:30026449-30026467
2 FKBP14 NM_017946.4(FKBP14):c.156T>A (p.Tyr52Ter) SNV Pathogenic 567476 rs1562840744 GRCh37: 7:30065969-30065969
GRCh38: 7:30026353-30026353
3 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.570_572AGA[1] (p.Glu191del) Microsatellite Pathogenic 599393 rs1430849353 GRCh37: 7:30054412-30054414
GRCh38: 7:30014796-30014798
4 FKBP14 NM_017946.4(FKBP14):c.143T>A (p.Met48Lys) SNV Pathogenic 638153 rs1583738267 GRCh37: 7:30065982-30065982
GRCh38: 7:30026366-30026366
5 FKBP14 NM_017946.4(FKBP14):c.32_33CT[1] (p.Leu12fs) Microsatellite Pathogenic 657045 rs1583738732 GRCh37: 7:30066090-30066091
GRCh38: 7:30026474-30026475
6 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.636G>C (p.Ter212Tyr) SNV Pathogenic 807418 rs1583725395 GRCh37: 7:30054351-30054351
GRCh38: 7:30014735-30014735
7 FKBP14 NM_017946.3(FKBP14):c.197+5_197+8del Microsatellite Pathogenic 161456 rs747353360 GRCh37: 7:30065920-30065923
GRCh38: 7:30026304-30026307
8 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.362dup (p.Glu122fs) Duplication Pathogenic/Likely pathogenic 279809 rs542489955 GRCh37: 7:30058726-30058727
GRCh38: 7:30019110-30019111
9 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.207_208del (p.His69fs) Deletion Likely pathogenic 800533 rs1583734485 GRCh37: 7:30062422-30062423
GRCh38: 7:30022806-30022807
10 FKBP14 NM_017946.4(FKBP14):c.197+1G>A SNV Likely pathogenic 944682 GRCh37: 7:30065927-30065927
GRCh38: 7:30026311-30026311
11 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.582C>G (p.Asp194Glu) SNV Uncertain significance 945543 GRCh37: 7:30054405-30054405
GRCh38: 7:30014789-30014789
12 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.477+1G>A SNV Uncertain significance 966849 GRCh37: 7:30058611-30058611
GRCh38: 7:30018995-30018995
13 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.595A>G (p.Ile199Val) SNV Uncertain significance 645474 rs780572118 GRCh37: 7:30054392-30054392
GRCh38: 7:30014776-30014776
14 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.233C>T (p.Thr78Ile) SNV Uncertain significance 649362 rs758100842 GRCh37: 7:30062397-30062397
GRCh38: 7:30022781-30022781
15 FKBP14 NM_017946.4(FKBP14):c.182C>T (p.Ser61Phe) SNV Uncertain significance 650004 rs1583738133 GRCh37: 7:30065943-30065943
GRCh38: 7:30026327-30026327
16 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.511C>T (p.His171Tyr) SNV Uncertain significance 656477 rs1583725676 GRCh37: 7:30054476-30054476
GRCh38: 7:30014860-30014860
17 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.580G>A (p.Asp194Asn) SNV Uncertain significance 568303 rs1439447377 GRCh37: 7:30054407-30054407
GRCh38: 7:30014791-30014791
18 FKBP14 NM_017946.4(FKBP14):c.119G>A (p.Arg40His) SNV Uncertain significance 473000 rs1554371032 GRCh37: 7:30066006-30066006
GRCh38: 7:30026390-30026390
19 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.463_464CT[2] (p.Leu155_Ser156insTer) Microsatellite Uncertain significance 521060 rs753775062 GRCh37: 7:30058621-30058622
GRCh38: 7:30019005-30019006
20 FKBP14 NM_017946.4(FKBP14):c.116A>G (p.His39Arg) SNV Uncertain significance 540213 rs778007431 GRCh37: 7:30066009-30066009
GRCh38: 7:30026393-30026393
21 FKBP14 NM_017946.4(FKBP14):c.50T>C (p.Leu17Ser) SNV Uncertain significance 473004 rs1554371125 GRCh37: 7:30066075-30066075
GRCh38: 7:30026459-30026459
22 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.512A>C (p.His171Pro) SNV Uncertain significance 473005 rs147665999 GRCh37: 7:30054475-30054475
GRCh38: 7:30014859-30014859
23 FKBP14 NM_017946.4(FKBP14):c.25G>A (p.Val9Ile) SNV Uncertain significance 1002303 GRCh37: 7:30066100-30066100
GRCh38: 7:30026484-30026484
24 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.247G>A (p.Glu83Lys) SNV Uncertain significance 1007260 GRCh37: 7:30062383-30062383
GRCh38: 7:30022767-30022767
25 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.357T>G (p.Ile119Met) SNV Uncertain significance 426476 rs202182643 GRCh37: 7:30058732-30058732
GRCh38: 7:30019116-30019116
26 FKBP14 NM_017946.4(FKBP14):c.79G>C (p.Val27Leu) SNV Uncertain significance 835291 GRCh37: 7:30066046-30066046
GRCh38: 7:30026430-30026430
27 FKBP14 NM_017946.4(FKBP14):c.92T>C (p.Val31Ala) SNV Uncertain significance 836945 GRCh37: 7:30066033-30066033
GRCh38: 7:30026417-30026417
28 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.386T>C (p.Ile129Thr) SNV Uncertain significance 853311 GRCh37: 7:30058703-30058703
GRCh38: 7:30019087-30019087
29 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.206A>G (p.His69Arg) SNV Uncertain significance 853408 GRCh37: 7:30062424-30062424
GRCh38: 7:30022808-30022808
30 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.568A>C (p.Lys190Gln) SNV Uncertain significance 935725 GRCh37: 7:30054419-30054419
GRCh38: 7:30014803-30014803
31 FKBP14 NM_017946.4(FKBP14):c.164A>G (p.Tyr55Cys) SNV Uncertain significance 941883 GRCh37: 7:30065961-30065961
GRCh38: 7:30026345-30026345
32 FKBP14 NM_017946.4(FKBP14):c.144G>A (p.Met48Ile) SNV Uncertain significance 810080 rs141850025 GRCh37: 7:30065981-30065981
GRCh38: 7:30026365-30026365
33 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.349+6A>C SNV Uncertain significance 1020959 GRCh37: 7:30062275-30062275
GRCh38: 7:30022659-30022659
34 FKBP14 NM_017946.4(FKBP14):c.30G>C (p.Leu10Phe) SNV Uncertain significance 1024756 GRCh37: 7:30066095-30066095
GRCh38: 7:30026479-30026479
35 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.619A>C (p.Lys207Gln) SNV Uncertain significance 947926 GRCh37: 7:30054368-30054368
GRCh38: 7:30014752-30014752
36 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.340G>A (p.Glu114Lys) SNV Uncertain significance 1030616 GRCh37: 7:30062290-30062290
GRCh38: 7:30022674-30022674
37 FKBP14 NM_017946.4(FKBP14):c.179G>A (p.Gly60Asp) SNV Uncertain significance 1035149 GRCh37: 7:30065946-30065946
GRCh38: 7:30026330-30026330
38 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.257A>G (p.Lys86Arg) SNV Uncertain significance 1036035 GRCh37: 7:30062373-30062373
GRCh38: 7:30022757-30022757
39 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.518C>T (p.Ala173Val) SNV Uncertain significance 1036143 GRCh37: 7:30054469-30054469
GRCh38: 7:30014853-30014853
40 FKBP14 NM_017946.4(FKBP14):c.137A>G (p.Asp46Gly) SNV Uncertain significance 1037413 GRCh37: 7:30065988-30065988
GRCh38: 7:30026372-30026372
41 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.499G>A (p.Glu167Lys) SNV Uncertain significance 1037889 GRCh37: 7:30054488-30054488
GRCh38: 7:30014872-30014872
42 FKBP14 NC_000007.13:g.(?_30049199)_(30067417_?)dup Duplication Uncertain significance 1047555 GRCh37: 7:30049199-30067417
GRCh38:
43 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.557A>G (p.Asp186Gly) SNV Uncertain significance 838953 GRCh37: 7:30054430-30054430
GRCh38: 7:30014814-30014814
44 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.250G>A (p.Ala84Thr) SNV Uncertain significance 859668 GRCh37: 7:30062380-30062380
GRCh38: 7:30022764-30022764
45 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.560T>G (p.Ile187Ser) SNV Uncertain significance 1058327 GRCh37: 7:30054427-30054427
GRCh38: 7:30014811-30014811
46 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.467C>A (p.Ser156Tyr) SNV Uncertain significance 1060813 GRCh37: 7:30058622-30058622
GRCh38: 7:30019006-30019006
47 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.445C>G (p.Leu149Val) SNV Uncertain significance 1063669 GRCh37: 7:30058644-30058644
GRCh38: 7:30019028-30019028
48 FKBP14 NC_000007.14:g.(?_30010573)_(30014903_?)del Deletion Uncertain significance 830453 GRCh37: 7:30050189-30054519
GRCh38:
49 FKBP14 NM_017946.4(FKBP14):c.147G>C (p.Leu49Phe) SNV Uncertain significance 948776 GRCh37: 7:30065978-30065978
GRCh38: 7:30026362-30026362
50 FKBP14 NM_017946.4(FKBP14):c.139T>C (p.Leu47=) SNV Likely benign 799654 rs1562840763 GRCh37: 7:30065986-30065986
GRCh38: 7:30026370-30026370

Expression for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2.

Pathways for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

GO Terms for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

Sources for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2

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