GPHYSD2
MCID: GLP004
MIFTS: 39

Geleophysic Dysplasia 2 (GPHYSD2)

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

Aliases & Classifications for Geleophysic Dysplasia 2

MalaCards integrated aliases for Geleophysic Dysplasia 2:

Name: Geleophysic Dysplasia 2 57 12 72 29 13 6 15 70
Gphysd2 57 12 72
Dysplasia, Geleophysic, Type 2 39
Geleophysic Dysplasia 70
Geleophysic Dwarfism 72

Characteristics:

OMIM®:

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

Miscellaneous:
early death in some patients due to cardiorespiratory involvement


HPO:

31
geleophysic dysplasia 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Geleophysic Dysplasia 2

UniProtKB/Swiss-Prot : 72 Geleophysic dysplasia 2: An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.

MalaCards based summary : Geleophysic Dysplasia 2, also known as gphysd2, is related to acromicric dysplasia and geleophysic dysplasia 1, and has symptoms including joint stiffness and thick skin. An important gene associated with Geleophysic Dysplasia 2 is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include bone and skin, and related phenotypes are respiratory insufficiency and hepatomegaly

Disease Ontology : 12 A geleophysic dysplasia that has material basis in heterozygous mutation in exon 41 or 42 of FBN1 on chromosome 15q21.1.

More information from OMIM: 614185 PS231050

Related Diseases for Geleophysic Dysplasia 2

Diseases in the Geleophysic Dysplasia family:

Geleophysic Dysplasia 1 Geleophysic Dysplasia 2
Geleophysic Dysplasia 3

Diseases related to Geleophysic Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 acromicric dysplasia 30.9 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
2 geleophysic dysplasia 1 30.4 TSR2 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
3 geleophysic dysplasia 30.4 TSR2 TSR1 TBRG1 LTBP3 LTBP2 FBN1
4 dwarfism 10.2
5 postural orthostatic tachycardia syndrome 10.1 TBRG1 FBN1
6 heritable thoracic aortic disease 10.0 LTBP3 FBN1
7 aortic disease 10.0 LTBP3 FBN1
8 weill-marchesani syndrome 1 10.0 LTBP2 FBN1
9 mucopolysaccharidosis-plus syndrome 10.0
10 excessive tearing 10.0 LTBP3 LTBP2
11 witkop syndrome 10.0 LTBP3 LTBP2
12 hydrophthalmos 10.0 LTBP3 LTBP2
13 brachyolmia 10.0 LTBP3 LTBP2
14 exfoliation syndrome 10.0 LTBP2 FBN1
15 camurati-engelmann disease 10.0 LTBP3 LTBP2
16 tracheal disease 10.0 TBRG1 FBN1 ADAMTSL2
17 lens subluxation 9.9 LTBP2 FBN1 ADAMTSL2
18 juvenile glaucoma 9.9 LTBP3 LTBP2
19 glaucoma 3, primary congenital, a 9.9 LTBP3 LTBP2
20 phacogenic glaucoma 9.9 LTBP3 LTBP2 FBN1
21 autosomal recessive cutis laxa type i 9.8 LTBP3 LTBP2 FBN1
22 osteochondrodysplasia 9.8 TBRG1 FBN1 ADAMTSL2
23 brachydactyly 9.8 LTBP2 FBN1 ADAMTSL2
24 megalocornea 9.8 LTBP3 LTBP2 FBN1
25 iris disease 9.8 LTBP3 LTBP2 FBN1
26 primary congenital glaucoma 9.8 LTBP3 LTBP2 FBN1
27 axenfeld-rieger syndrome 9.8 LTBP3 LTBP2
28 aortic aneurysm, familial thoracic 1 9.8 LTBP3 LTBP2 FBN1
29 glaucoma, primary open angle 9.8 LTBP3 LTBP2 FBN1
30 bone development disease 9.8 FBN1 ADAMTSL2
31 anterior segment dysgenesis 9.8 LTBP3 LTBP2 ADAMTSL2
32 aniridia 1 9.8 LTBP3 LTBP2
33 tracheal stenosis 9.7 TBRG1 LTBP3 FBN1 ADAMTSL2
34 stiff skin syndrome 9.7 TBRG1 LTBP3 FBN1 ADAMTSL2
35 isolated ectopia lentis 9.4 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
36 weill-marchesani syndrome 9.4 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
37 peters-plus syndrome 9.1 TSR1 TRIM8 LTBP3 LTBP2 ADAMTSL2
38 geleophysic dysplasia 3 8.9 TSR2 TSR1 TBRG1 LTBP3 LTBP2 ADAMTSL2

Graphical network of the top 20 diseases related to Geleophysic Dysplasia 2:



Diseases related to Geleophysic Dysplasia 2

Symptoms & Phenotypes for Geleophysic Dysplasia 2

Human phenotypes related to Geleophysic Dysplasia 2:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 very rare (1%) HP:0002093
2 hepatomegaly 31 very rare (1%) HP:0002240
3 short stature 31 very rare (1%) HP:0004322
4 pulmonary arterial hypertension 31 very rare (1%) HP:0002092
5 aortic valve stenosis 31 very rare (1%) HP:0001650
6 tricuspid stenosis 31 very rare (1%) HP:0010446
7 delayed skeletal maturation 31 HP:0002750
8 hypertelorism 31 HP:0000316
9 joint stiffness 31 HP:0001387
10 short nose 31 HP:0003196
11 smooth philtrum 31 HP:0000319
12 full cheeks 31 HP:0000293
13 ovoid vertebral bodies 31 HP:0003300
14 toe walking 31 HP:0040083
15 mitral valve prolapse 31 HP:0001634
16 mitral regurgitation 31 HP:0001653
17 thin upper lip vermilion 31 HP:0000219
18 long philtrum 31 HP:0000343
19 short foot 31 HP:0001773
20 cone-shaped epiphysis 31 HP:0010579
21 thickened skin 31 HP:0001072
22 short palm 31 HP:0004279
23 mitral stenosis 31 HP:0001718

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory Lung:
respiratory insufficiency

Head And Neck Eyes:
hypertelorism

Growth Height:
short stature

Skeletal Spine:
ovoid vertebral bodies

Cardiovascular Heart:
mitral valve prolapse
aortic valve stenosis
mitral valve insufficiency
mitral valve stenosis
valvular thickening, progressive
more
Head And Neck Mouth:
thin upper lip

Skeletal Hands:
short hands

Head And Neck Nose:
shortened nose

Laboratory Abnormalities:
lysosomal-like storage vacuoles in various tissues

Abdomen Liver:
hepatomegaly

Skeletal:
joint stiffness
delayed bone age
decreased joint mobility

Head And Neck Face:
full cheeks
long philtrum
flat philtrum
'happy' face

Skeletal Feet:
toe walking
short feet

Skin Nails Hair Skin:
thick skin

Skeletal Limbs:
cone-shaped epiphyses
short long tubular bones

Cardiovascular Vascular:
pulmonary artery hypertension

Respiratory Larynx:
laryngeal stenosis or insufficiency

Clinical features from OMIM®:

614185 (Updated 20-May-2021)

UMLS symptoms related to Geleophysic Dysplasia 2:


joint stiffness; thick skin

Drugs & Therapeutics for Geleophysic Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Geleophysic Dysplasia 2

Genetic Tests for Geleophysic Dysplasia 2

Genetic tests related to Geleophysic Dysplasia 2:

# Genetic test Affiliating Genes
1 Geleophysic Dysplasia 2 29 FBN1

Anatomical Context for Geleophysic Dysplasia 2

MalaCards organs/tissues related to Geleophysic Dysplasia 2:

40
Bone, Skin

Publications for Geleophysic Dysplasia 2

Articles related to Geleophysic Dysplasia 2:

# Title Authors PMID Year
1
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. 57
26860060 2016
2
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 6
25979247 2015
3
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 6
26380986 2015
4
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 57
21683322 2011
5
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. 6
1852206 1991
6
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking. 61
31516831 2019
7
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review. 61
26875674 2016
8
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 61
27245183 2016

Variations for Geleophysic Dysplasia 2

ClinVar genetic disease variations for Geleophysic Dysplasia 2:

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBN1 NM_000138.4(FBN1):c.5096A>G (p.Tyr1699Cys) SNV Pathogenic 29696 rs387906622 GRCh37: 15:48755407-48755407
GRCh38: 15:48463210-48463210
2 FBN1 NM_000138.4(FBN1):c.5182G>A (p.Ala1728Thr) SNV Pathogenic 29698 rs387906624 GRCh37: 15:48755321-48755321
GRCh38: 15:48463124-48463124
3 FBN1 NM_000138.4(FBN1):c.5087A>G (p.Tyr1696Cys) SNV Pathogenic 29699 rs387906625 GRCh37: 15:48755416-48755416
GRCh38: 15:48463219-48463219
4 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) SNV Pathogenic 36078 rs111401431 GRCh37: 15:48760294-48760294
GRCh38: 15:48468097-48468097
5 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) SNV Pathogenic 16461 rs137854480 GRCh37: 15:48829826-48829826
GRCh38: 15:48537629-48537629
6 FBN1 NM_000138.5(FBN1):c.3712G>A SNV Pathogenic 200022 rs794728208 GRCh37: 15:48777571-48777571
GRCh38: 15:48485374-48485374
7 FBN1 NM_000138.5(FBN1):c.2645C>T SNV Pathogenic 200001 rs794728195 GRCh37: 15:48787352-48787352
GRCh38: 15:48495155-48495155
8 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) SNV Pathogenic 180352 rs730880099 GRCh37: 15:48802322-48802322
GRCh38: 15:48510125-48510125
9 FBN1 NM_000138.5(FBN1):c.1468+5G>A SNV Pathogenic 42284 rs397515757 GRCh37: 15:48807579-48807579
GRCh38: 15:48515382-48515382
10 FBN1 NM_000138.4(FBN1):c.5243G>T (p.Cys1748Phe) SNV Pathogenic 590974 rs1566902569 GRCh37: 15:48752496-48752496
GRCh38: 15:48460299-48460299
11 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) Deletion Pathogenic 625943 rs1566911957 GRCh37: 15:48788401-48788411
GRCh38: 15:48496204-48496214
12 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) SNV Pathogenic 163480 rs727503057 GRCh37: 15:48797303-48797303
GRCh38: 15:48505106-48505106
13 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) SNV Pathogenic 265401 rs140583 GRCh37: 15:48787416-48787416
GRCh38: 15:48495219-48495219
14 FBN1 NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser) SNV Pathogenic 29697 rs387906623 GRCh37: 15:48752455-48752455
GRCh38: 15:48460258-48460258
15 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) SNV Pathogenic 36082 rs113871094 GRCh37: 15:48758017-48758017
GRCh38: 15:48465820-48465820
16 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) SNV Pathogenic 36107 rs193922228 GRCh37: 15:48722933-48722933
GRCh38: 15:48430736-48430736
17 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) SNV Pathogenic 264272 rs111984349 GRCh37: 15:48707956-48707956
GRCh38: 15:48415759-48415759
18 FBN1 NM_000138.5(FBN1):c.1948C>T SNV Pathogenic 36042 rs193922185 GRCh37: 15:48797234-48797234
GRCh38: 15:48505037-48505037
19 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) SNV Likely pathogenic 200191 rs794728334 GRCh37: 15:48729266-48729266
GRCh38: 15:48437069-48437069
20 FBN1 NM_000138.4(FBN1):c.4460-8G>A SNV Likely pathogenic 36075 rs193922204 GRCh37: 15:48760739-48760739
GRCh38: 15:48468542-48468542
21 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser) SNV Likely pathogenic 495590 rs397515791 GRCh37: 15:48779559-48779559
GRCh38: 15:48487362-48487362
22 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) Duplication Likely pathogenic 828001 rs1597631624 GRCh37: 15:48902952-48902953
GRCh38: 15:48610755-48610756
23 FBN1 NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val) SNV Likely pathogenic 430150 rs1131691804 GRCh37: 15:48755320-48755320
GRCh38: 15:48463123-48463123
24 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) SNV Likely pathogenic 626100 rs71467648 GRCh37: 15:48730095-48730095
GRCh38: 15:48437898-48437898
25 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) SNV Likely pathogenic 439708 rs113543334 GRCh37: 15:48725141-48725141
GRCh38: 15:48432944-48432944
26 FBN1 NM_000138.4(FBN1):c.5546-1G>A SNV Likely pathogenic 626102 rs1566899590 GRCh37: 15:48741091-48741091
GRCh38: 15:48448894-48448894
27 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) SNV Likely pathogenic 523334 rs1555397413 GRCh37: 15:48762902-48762902
GRCh38: 15:48470705-48470705
28 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) SNV Likely pathogenic 549204 rs1555397718 GRCh37: 15:48766763-48766763
GRCh38: 15:48474566-48474566
29 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) SNV Likely pathogenic 457162 rs1555400373 GRCh37: 15:48807590-48807590
GRCh38: 15:48515393-48515393
30 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Likely pathogenic 163462 rs727503054 GRCh37: 15:48712949-48712949
GRCh38: 15:48420752-48420752
31 FBN1 NM_000138.4(FBN1):c.8138A>G (p.Glu2713Gly) SNV Uncertain significance 548587 rs1555393658 GRCh37: 15:48704854-48704854
GRCh38: 15:48412657-48412657
32 FBN1 NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) SNV Uncertain significance 42356 rs377338217 GRCh37: 15:48764778-48764778
GRCh38: 15:48472581-48472581
33 FBN1 NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser) SNV Uncertain significance 519804 rs145464311 GRCh37: 15:48787397-48787397
GRCh38: 15:48495200-48495200
34 FBN1 NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp) SNV Uncertain significance 237085 rs878853678 GRCh37: 15:48789550-48789550
GRCh38: 15:48497353-48497353
35 FBN1 NM_000138.4(FBN1):c.793A>T (p.Thr265Ser) SNV Uncertain significance 527175 rs982468949 GRCh37: 15:48826346-48826346
GRCh38: 15:48534149-48534149
36 FBN1 NM_000138.5(FBN1):c.164+5A>G SNV Uncertain significance 42289 rs397515760 GRCh37: 15:48936798-48936798
GRCh38: 15:48644601-48644601
37 FBN1 NM_000138.4(FBN1):c.83A>G (p.Asn28Ser) SNV Uncertain significance 36130 rs193922245 GRCh37: 15:48936884-48936884
GRCh38: 15:48644687-48644687
38 FBN1 NM_000138.4(FBN1):c.8232G>C (p.Gln2744His) SNV Uncertain significance 457269 rs376119827 GRCh37: 15:48703571-48703571
GRCh38: 15:48411374-48411374
39 FBN1 NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu) SNV Uncertain significance 418202 rs146469379 GRCh37: 15:48707757-48707757
GRCh38: 15:48415560-48415560
40 FBN1 NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) SNV Uncertain significance 42434 rs141133182 GRCh37: 15:48707932-48707932
GRCh38: 15:48415735-48415735
41 FBN1 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) SNV Uncertain significance 200054 rs776625874 GRCh37: 15:48760155-48760155
GRCh38: 15:48467958-48467958
42 FBN1 NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu) SNV Uncertain significance 501654 rs368650399 GRCh37: 15:48762932-48762932
GRCh38: 15:48470735-48470735
43 FBN1 NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) SNV Uncertain significance 42355 rs201273753 GRCh37: 15:48764814-48764814
GRCh38: 15:48472617-48472617
44 FBN1 NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) SNV Uncertain significance 16451 rs137854475 GRCh37: 15:48779352-48779352
GRCh38: 15:48487155-48487155
45 FBN1 NM_000138.4(FBN1):c.3462C>T (p.Ile1154=) SNV Uncertain significance 495593 rs144339604 GRCh37: 15:48779510-48779510
GRCh38: 15:48487313-48487313
46 FBN1 NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) SNV Uncertain significance 199947 rs138438849 GRCh37: 15:48782196-48782196
GRCh38: 15:48489999-48489999
47 FBN1 NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) SNV Uncertain significance 36074 rs61730054 GRCh37: 15:48762849-48762849
GRCh38: 15:48470652-48470652
48 FBN1 NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) SNV Uncertain significance 381319 rs141925790 GRCh37: 15:48756163-48756163
GRCh38: 15:48463966-48463966
49 FBN1 NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu) SNV Uncertain significance 626103 rs1566904712 GRCh37: 15:48760729-48760729
GRCh38: 15:48468532-48468532
50 FBN1 NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) SNV Uncertain significance 828000 rs1052480459 GRCh37: 15:48730034-48730034
GRCh38: 15:48437837-48437837

UniProtKB/Swiss-Prot genetic disease variations for Geleophysic Dysplasia 2:

72
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Tyr1696Cys VAR_066527 rs387906625
2 FBN1 p.Tyr1699Cys VAR_066528 rs387906622
3 FBN1 p.Tyr1699Asp VAR_066529
4 FBN1 p.Cys1706Tyr VAR_066531
5 FBN1 p.Cys1719Trp VAR_066533
6 FBN1 p.Ala1728Thr VAR_066536 rs387906624
7 FBN1 p.Ala1728Val VAR_066537 rs113169180
8 FBN1 p.Cys1733Tyr VAR_066538
9 FBN1 p.Gly1762Ser VAR_066542 rs387906623

Expression for Geleophysic Dysplasia 2

Search GEO for disease gene expression data for Geleophysic Dysplasia 2.

Pathways for Geleophysic Dysplasia 2

Pathways related to Geleophysic Dysplasia 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 TBRG1 LTBP3 LTBP2 FBN1
2
Show member pathways
12.26 LTBP3 LTBP2 FBN1
3
Show member pathways
12.2 TBRG1 LTBP3 LTBP2
4
Show member pathways
11.93 TBRG1 LTBP3 LTBP2
5
Show member pathways
11.75 TBRG1 LTBP3 LTBP2
6 11.19 TBRG1 LTBP3 LTBP2
7
Show member pathways
10.66 LTBP3 LTBP2 FBN1
8 10.55 LTBP2 FBN1
9 10.16 TBRG1 LTBP3 LTBP2 FBN1

GO Terms for Geleophysic Dysplasia 2

Cellular components related to Geleophysic Dysplasia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.13 LTBP3 LTBP2 FBN1
2 extracellular matrix GO:0031012 8.8 LTBP2 FBN1 ADAMTSL2

Biological processes related to Geleophysic Dysplasia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 8.62 TSR2 TSR1

Molecular functions related to Geleophysic Dysplasia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.96 LTBP3 LTBP2
2 microfibril binding GO:0050436 8.62 LTBP2 ADAMTSL2

Sources for Geleophysic Dysplasia 2

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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