MCID: GLP001
MIFTS: 42

Geleophysic Dysplasia

Categories: Bone diseases, Fetal diseases, Genetic diseases, Liver diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Geleophysic Dysplasia

MalaCards integrated aliases for Geleophysic Dysplasia:

Name: Geleophysic Dysplasia 24 25 59 37 29 6 40 72
Geleophysic Dwarfism 25 59

Characteristics:

Orphanet epidemiological data:

59
geleophysic dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

KEGG 37 H00900
MESH via Orphanet 45 C537677
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 73 C3489726
Orphanet 59 ORPHA2623
UMLS 72 C3489726

Summaries for Geleophysic Dysplasia

Genetics Home Reference : 25 Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin. People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called contractures, both of which significantly limit mobility. Affected individuals usually have a limited range of motion in their fingers, toes, wrists, and elbows. Additionally, contractures in the legs and hips cause many affected people to walk on their toes. The name of this condition, which comes from the Greek words for happy ("gelios") and nature ("physis"), is derived from the good-natured facial appearance seen in most affected individuals. The distinctive facial features associated with this condition include a round face with full cheeks, a small nose with upturned nostrils, a broad nasal bridge, a thin upper lip, upturned corners of the mouth, and a flat area between the upper lip and the nose (philtrum). Geleophysic dysplasia is also characterized by heart (cardiac) problems, particularly abnormalities of the cardiac valves. These valves normally control the flow of blood through the heart. In people with geleophysic dysplasia, the cardiac valves thicken, which impedes blood flow and increases blood pressure in the heart. Other heart problems have also been reported in people with geleophysic dysplasia; these include a narrowing of the artery from the heart to the lungs (pulmonary stenosis) and a hole between the two upper chambers of the heart (atrial septal defect). Other features of geleophysic dysplasia can include an enlarged liver (hepatomegaly) and recurrent respiratory and ear infections. In severe cases, a narrowing of the windpipe (tracheal stenosis) can cause serious breathing problems. As a result of heart and respiratory abnormalities, geleophysic dysplasia is often life-threatening in childhood. However, some affected people have lived into adulthood.

MalaCards based summary : Geleophysic Dysplasia, also known as geleophysic dwarfism, is related to weill-marchesani syndrome and isolated ectopia lentis. An important gene associated with Geleophysic Dysplasia is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Phospholipase-C Pathway and NF-KappaB Family Pathway. Affiliated tissues include bone, skin and liver, and related phenotypes are mortality/aging and craniofacial

KEGG : 37
Geleophysic dysplasia is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, stiff joints, distinctive facial features, and progressive valvular cardiac disease.

GeneReviews: NBK11168

Related Diseases for Geleophysic Dysplasia

Diseases in the Geleophysic Dysplasia family:

Geleophysic Dysplasia 1 Geleophysic Dysplasia 2
Geleophysic Dysplasia 3

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 30.8 FBN1 ADAMTSL2
2 isolated ectopia lentis 30.3 FBN1 ADAMTSL2
3 acromicric dysplasia 30.3 LTBP3 LOC105370809 FBN1
4 tracheal stenosis 30.2 LTBP3 FBN1 ADAMTSL2
5 geleophysic dysplasia 1 12.8
6 geleophysic dysplasia 2 12.8
7 geleophysic dysplasia 3 12.8
8 geleophysic dwarfism 11.9
9 chromosome 8q22.1 duplication syndrome 11.3
10 brachydactyly 10.5
11 autosomal recessive disease 10.5
12 acromelic dysplasia 10.5
13 marfan syndrome 10.4
14 lysosomal storage disease 10.3
15 dwarfism 10.3
16 myhre syndrome 10.2
17 respiratory failure 10.2
18 skeletal dysplasias 10.2
19 dwarfism with stiff joints and ocular abnormalities 10.1
20 hypertelorism 10.1
21 trigger thumb 10.1
22 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1
23 branchiootic syndrome 1 10.1
24 astigmatism 10.1
25 intraocular pressure quantitative trait locus 10.1
26 brown syndrome 10.1
27 mucopolysaccharidosis-plus syndrome 10.1
28 pulmonary hypertension 10.1
29 monocular esotropia 10.1
30 hydrocephalus 10.1
31 mitral valve insufficiency 10.1
32 dysostosis 10.1
33 tricuspid valve stenosis 10.1
34 polyhydramnios 10.1
35 accommodative esotropia 10.1
36 esotropia 10.1
37 48,xyyy 10.1
38 congenital hydrocephalus 10.1
39 growth hormone deficiency 10.1
40 lysosomal storage disease with skeletal involvement 10.1
41 lethal chondrodysplasia 10.1
42 heart valve disease 9.9 TGFB1 FBN1
43 systemic scleroderma 9.8 TGFB1 FBN1
44 exophthalmos 9.8 TGFB1 SCYL1
45 aortic valve disease 1 9.6 TGFB1 FBN1
46 stiff skin syndrome 9.6 TGFB1 LOC105370809 FBN1

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



Diseases related to Geleophysic Dysplasia

Symptoms & Phenotypes for Geleophysic Dysplasia

MGI Mouse Phenotypes related to Geleophysic Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.73 ADAMTSL2 FBN1 LTBP1 LTBP3 SCYL1 TGFB1
2 craniofacial MP:0005382 9.62 FBN1 LTBP1 LTBP3 TGFB1
3 muscle MP:0005369 9.55 ADAMTSL2 FBN1 LTBP1 SCYL1 TGFB1
4 respiratory system MP:0005388 9.26 ADAMTSL2 FBN1 LTBP3 TGFB1
5 skeleton MP:0005390 9.02 FBN1 LTBP1 LTBP3 SCYL1 TGFB1

Drugs & Therapeutics for Geleophysic Dysplasia

Search Clinical Trials , NIH Clinical Center for Geleophysic Dysplasia

Genetic Tests for Geleophysic Dysplasia

Genetic tests related to Geleophysic Dysplasia:

# Genetic test Affiliating Genes
1 Geleophysic Dysplasia 29

Anatomical Context for Geleophysic Dysplasia

MalaCards organs/tissues related to Geleophysic Dysplasia:

41
Bone, Skin, Liver, Heart, Lung, Trachea, Eye

Publications for Geleophysic Dysplasia

Articles related to Geleophysic Dysplasia:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. 38 4 71
24014090 2013
2
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 38 4 71
21415077 2011
3
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. 38 71
30195254 2018
4
Geleophysic Dysplasia 38 71
20301776 2009
5
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. 38 4
29191498 2018
6
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. 38 4
28917829 2017
7
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. 38 4
27057656 2016
8
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 38 4
27068007 2016
9
Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. 38 4
25850559 2015
10
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 71
25979247 2015
11
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. 38 4
24192049 2015
12
Novel mutations in geleophysic dysplasia type 1. 38 4
24251637 2014
13
Geleophysic dysplasia associated with bilateral angle closure glaucoma. 38 4
23514648 2013
14
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. 38 4
23124041 2013
15
Genetic and molecular aspects of acromelic dysplasia. 38 4
19396027 2009
16
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 38 4
18677313 2008
17
Clinical and morphological phenotype of geleophysic dysplasia. 38 4
18510828 2008
18
Geleophysic dysplasia: a patient with a severe form of the disorder. 38 4
16368598 2005
19
Natural history of cardiac involvement in geleophysic dysplasia. 38 4
15690380 2005
20
Ocular findings in geleophysic dysplasia. 38 4
15088061 2004
21
Multiple trigger fingers associated with geleophysic dysplasia. 38 4
12136306 2002
22
Perthes-like changes in geleophysic dysplasia. 38 4
11943981 2002
23
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. 38 4
10440835 1999
24
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. 38 4
9399356 1997
25
Patients with geleophysic dysplasia are not always geleophysic. 38 4
9295082 1997
26
Geleophysic dysplasia vs. Myhre syndrome. 38 4
8923952 1996
27
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. 38 4
8723086 1996
28
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. 38 4
8777926 1996
29
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. 38 4
8533820 1995
30
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. 71
1852206 1991
31
Geleophysic dysplasia: a further case. 38 4
2019943 1991
32
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. 38 4
2380821 1990
33
Geleophysic dysplasia. 38 4
2090119 1990
34
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. 38 4
3130853 1987
35
Narrow trachea in mucopolysaccharidoses. 38 4
3923421 1985
36
Geleophysic dysplasia. 38 4
6507495 1984
37
Familial recurrence of geleophysic dysplasia. 38 4
6507494 1984
38
Acrofacial dysplasia resembling geleophysic dysplasia. 38 4
6507496 1984
39
Geleophysic dwarfism--a "focal" mucopolysaccharidosis? 38 4
4104008 1971
40
Timing, rates and spectra of human germline mutation. 4
26656846 2016
41
Chondrodysplasias and TGFβ signaling. 4
25798233 2015
42
Specificity of latent TGF-β binding protein (LTBP) incorporation into matrix: role of fibrillins and fibronectin. 4
22495824 2012
43
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 4
21683322 2011
44
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. 4
19344874 2009
45
Latent TGF-beta binding proteins (LTBPs)-1 and -3 coordinate proliferation and osteogenic differentiation of human mesenchymal stem cells. 4
18672106 2008
46
ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis. 4
17509843 2007
47
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. 4
15368195 2004
48
A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family. 4
15094112 2004
49
Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. 4
12429738 2003
50
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 4
12525539 2003

Variations for Geleophysic Dysplasia

ClinVar genetic disease variations for Geleophysic Dysplasia:

6 (show top 50) (show all 225)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1): c.5183C> T (p.Ala1728Val) single nucleotide variant Pathogenic/Likely pathogenic rs1131691804 15:48755320-48755320 15:48463123-48463123
2 FBN1 NM_000138.4(FBN1): c.6700G> A (p.Val2234Met) single nucleotide variant Conflicting interpretations of pathogenicity rs112084407 15:48725102-48725102 15:48432905-48432905
3 FBN1 NM_000138.4(FBN1): c.986T> C (p.Ile329Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12324002 15:48818329-48818329 15:48526132-48526132
4 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 15:48773926-48773926 15:48481729-48481729
5 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 15:48818413-48818413 15:48526216-48526216
6 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 15:48729599-48729599 15:48437402-48437402
7 FBN1 NM_000138.4(FBN1): c.3089A> G (p.Asn1030Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs375996640 15:48780684-48780684 15:48488487-48488487
8 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 15:48812976-48812976 15:48520779-48520779
9 FBN1 NM_000138.4(FBN1): c.7056C> T (p.Ser2352=) single nucleotide variant Conflicting interpretations of pathogenicity rs149697299 15:48719912-48719912 15:48427715-48427715
10 FBN1 NM_000138.4(FBN1): c.8363C> T (p.Thr2788Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143007898 15:48703440-48703440 15:48411243-48411243
11 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 15:48704843-48704843 15:48412646-48412646
12 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202158568 15:48737570-48737570 15:48445373-48445373
13 FBN1 NM_000138.4(FBN1): c.-176A> T single nucleotide variant Conflicting interpretations of pathogenicity rs560004254 15:48937142-48937142 15:48644945-48644945
14 FBN1 NM_000138.4(FBN1): c.3422C> T (p.Pro1141Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2228241 15:48779550-48779550 15:48487353-48487353
15 FBN1 NM_000138.4(FBN1): c.4640C> T (p.Thr1547Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs183306990 15:48760242-48760242 15:48468045-48468045
16 FBN1 NM_000138.4(FBN1): c.510C> T (p.Tyr170=) single nucleotide variant Conflicting interpretations of pathogenicity rs111671429 15:48888508-48888508 15:48596311-48596311
17 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 15:48779352-48779352 15:48487155-48487155
18 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 15:48704816-48704816 15:48412619-48412619
19 FBN1 NM_000138.4(FBN1): c.6801C> T (p.Asn2267=) single nucleotide variant Conflicting interpretations of pathogenicity rs886051245 15:48722938-48722938 15:48430741-48430741
20 FBN1 NM_000138.4(FBN1): c.1602T> C (p.Cys534=) single nucleotide variant Conflicting interpretations of pathogenicity rs377386372 15:48802353-48802353 15:48510156-48510156
21 FBN1 NM_000138.4(FBN1): c.8202C> T (p.Asn2734=) single nucleotide variant Conflicting interpretations of pathogenicity rs113904256 15:48704790-48704790 15:48412593-48412593
22 FBN1 NM_000138.4(FBN1): c.3337+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs368726848 15:48780299-48780299 15:48488102-48488102
23 FBN1 NM_000138.4(FBN1): c.5724A> G (p.Thr1908=) single nucleotide variant Conflicting interpretations of pathogenicity rs141219664 15:48738967-48738967 15:48446770-48446770
24 FBN1 NM_000138.4(FBN1): c.7661G> A (p.Arg2554Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199522781 15:48713793-48713793 15:48421596-48421596
25 FBN1 NM_000138.4(FBN1): c.5788+4C> A single nucleotide variant Uncertain significance rs577301285 15:48738899-48738899 15:48446702-48446702
26 FBN1 NM_000138.4(FBN1): c.6264G> C (p.Lys2088Asn) single nucleotide variant Uncertain significance rs886051247 15:48730014-48730014 15:48437817-48437817
27 FBN1 NM_000138.4(FBN1): c.*938G> T single nucleotide variant Uncertain significance rs886051238 15:48702249-48702249 15:48410052-48410052
28 FBN1 NM_000138.4(FBN1): c.*948G> T single nucleotide variant Uncertain significance rs749224599 15:48702239-48702239 15:48410042-48410042
29 FBN1 NM_000138.4(FBN1): c.*2114T> A single nucleotide variant Uncertain significance rs886051227 15:48701073-48701073 15:48408876-48408876
30 FBN1 NM_000138.4(FBN1): c.-319G> T single nucleotide variant Uncertain significance rs886051256 15:48937909-48937909 15:48645712-48645712
31 FBN1 NM_000138.4(FBN1): c.589G> C (p.Gly197Arg) single nucleotide variant Uncertain significance rs886051251 15:48829955-48829955 15:48537758-48537758
32 FBN1 NM_000138.4(FBN1): c.723G> A (p.Thr241=) single nucleotide variant Uncertain significance rs757264206 15:48829821-48829821 15:48537624-48537624
33 FBN1 NM_000138.4(FBN1): c.*1672G> A single nucleotide variant Uncertain significance rs886051231 15:48701515-48701515 15:48409318-48409318
34 FBN1 NM_000138.4(FBN1): c.-136G> C single nucleotide variant Uncertain significance rs879283668 15:48937102-48937102 15:48644905-48644905
35 FBN1 NM_000138.4(FBN1): c.-132A> C single nucleotide variant Uncertain significance rs886051255 15:48937098-48937098 15:48644901-48644901
36 FBN1 NM_000138.4(FBN1): c.*1396C> T single nucleotide variant Uncertain significance rs886051235 15:48701791-48701791 15:48409594-48409594
37 FBN1 NM_000138.4(FBN1): c.*1477C> A single nucleotide variant Uncertain significance rs886051233 15:48701710-48701710 15:48409513-48409513
38 FBN1 NM_000138.4(FBN1): c.5672-15C> G single nucleotide variant Uncertain significance rs776163620 15:48739034-48739034 15:48446837-48446837
39 FBN1 NM_000138.4(FBN1): c.6357G> C (p.Val2119=) single nucleotide variant Uncertain significance rs886051246 15:48729541-48729541 15:48437344-48437344
40 FBN1 NM_000138.4(FBN1): c.8011C> T (p.Leu2671=) single nucleotide variant Uncertain significance rs886051244 15:48707773-48707773 15:48415576-48415576
41 FBN1 NM_000138.4(FBN1): c.*1007G> T single nucleotide variant Uncertain significance rs886051236 15:48702180-48702180 15:48409983-48409983
42 FBN1 NM_000138.4(FBN1): c.*1635C> A single nucleotide variant Uncertain significance rs886051232 15:48701552-48701552 15:48409355-48409355
43 FBN1 NM_000138.4(FBN1): c.2903C> T (p.Thr968Ile) single nucleotide variant Uncertain significance rs781698952 15:48782227-48782227 15:48490030-48490030
44 FBN1 NM_000138.4(FBN1): c.-389_-388TC[1] short repeat Uncertain significance rs886051258 15:48937974-48937977 15:48645777-48645780
45 FBN1 NM_000138.4(FBN1): c.-371T> C single nucleotide variant Uncertain significance rs886051257 15:48937961-48937961 15:48645764-48645764
46 FBN1 NM_000138.4(FBN1): c.223C> T (p.Pro75Ser) single nucleotide variant Uncertain significance rs886051252 15:48905231-48905231 15:48613034-48613034
47 FBN1 NM_000138.4(FBN1): c.*268G> C single nucleotide variant Uncertain significance rs886051242 15:48702919-48702919 15:48410722-48410722
48 FBN1 NM_000138.4(FBN1): c.*406G> T single nucleotide variant Uncertain significance rs886051240 15:48702781-48702781 15:48410584-48410584
49 FBN1 NM_000138.4(FBN1): c.-70C> A single nucleotide variant Uncertain significance rs886051253 15:48937036-48937036 15:48644839-48644839
50 FBN1 NM_000138.4(FBN1): c.-98G> T single nucleotide variant Uncertain significance rs886051254 15:48937064-48937064 15:48644867-48644867

Expression for Geleophysic Dysplasia

Search GEO for disease gene expression data for Geleophysic Dysplasia.

Pathways for Geleophysic Dysplasia

GO Terms for Geleophysic Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 TGFB1 LTBP3 LTBP1 FBN1 ADAMTSL2
2 collagen-containing extracellular matrix GO:0062023 9.33 TGFB1 LTBP1 FBN1
3 microfibril GO:0001527 8.96 LTBP1 FBN1
4 extracellular matrix GO:0031012 8.92 TGFB1 LTBP1 FBN1 ADAMTSL2

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.26 TGFB1 ADAMTSL2
2 cellular response to transforming growth factor beta stimulus GO:0071560 9.16 TGFB1 FBN1
3 cellular response to insulin-like growth factor stimulus GO:1990314 8.96 TGFB1 FBN1
4 sequestering of TGFbeta in extracellular matrix GO:0035583 8.62 LTBP1 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.26 LTBP1 FBN1
2 growth factor binding GO:0019838 9.16 LTBP3 LTBP1
3 transforming growth factor beta binding GO:0050431 8.96 LTBP3 LTBP1
4 microfibril binding GO:0050436 8.62 LTBP1 ADAMTSL2

Sources for Geleophysic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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