MCID: SKL017
MIFTS: 41

Skeletal Dysplasias

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Skeletal Dysplasias

MalaCards integrated aliases for Skeletal Dysplasias:

Name: Skeletal Dysplasias 20
Osteochondrodysplasias 20 54 70

Classifications:



External Ids:

UMLS 70 C0029422

Summaries for Skeletal Dysplasias

MalaCards based summary : Skeletal Dysplasias, also known as osteochondrodysplasias, is related to dyssegmental dysplasia, silverman-handmaker type and platyspondylic lethal skeletal dysplasia, torrance type. An important gene associated with Skeletal Dysplasias is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are Focal Adhesion and Degradation of the extracellular matrix. The drugs Vaccines and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and fetal lung, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo")... more...

Related Diseases for Skeletal Dysplasias

Diseases related to Skeletal Dysplasias via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 312)
# Related Disease Score Top Affiliating Genes
1 dyssegmental dysplasia, silverman-handmaker type 31.8 HSPG2 COL2A1
2 platyspondylic lethal skeletal dysplasia, torrance type 31.8 COMP COL2A1
3 brachyolmia 31.5 TRPV4 SLC26A2 PAPSS2 COL2A1
4 boomerang dysplasia 31.4 FLNB FLNA
5 otopalatodigital syndrome, type i 31.4 FLNB FLNA
6 thanatophoric dysplasia, type i 31.1 PTH1R NPPC FGFR3 COMP
7 hypochondroplasia 31.0 NPPC FGFR3 COL2A1
8 spondyloepimetaphyseal dysplasia 30.9 TRPV4 SOX9 PAPSS2 MATN3 COL2A1
9 type ii collagen disorders 30.7 TRPV4 COL2A1
10 diastrophic dysplasia 30.4 SLC26A2 MATN3 COMP COL2A1
11 hypochondrogenesis 30.4 SLC26A2 MATN3 COL2A1
12 achondroplasia 30.3 SOX9 PTH1R NPPC FGFR3 COMP COL2A1
13 pseudoachondroplasia 30.3 SLC26A2 MATN3 COMP COL2A1
14 metaphyseal dysplasia 30.3 PTHLH PTH1R MATN3 COL2A1
15 multiple epiphyseal dysplasia, autosomal dominant 30.2 MATN3 COMP
16 achondroplasia, severe, with developmental delay and acanthosis nigricans 30.2 TRAPPC2 NPPC FGFR3
17 achondrogenesis, type ia 30.1 SLC26A2 COL2A1
18 achondrogenesis, type ib 30.1 SLC26A2 PAPSS2 MATN3
19 acromesomelic dysplasia 30.1 NPPC FGFR3 COL2A1
20 campomelic dysplasia 30.1 SOX9 COL2A1 COL11A2
21 achondrogenesis 30.1 SLC26A2 MATN3 HSPG2 FGFR3 COMP COL2A1
22 arthropathy 30.0 TRPV4 COMP COL2A1
23 epiphyseal dysplasia, multiple, 1 30.0 SLC26A2 MATN3 COMP
24 eiken syndrome 30.0 PTHLH PTH1R
25 kniest dysplasia 29.9 COL2A1 COL11A2
26 spondyloepiphyseal dysplasia congenita 29.9 TRAPPC2 MATN3 COMP COL2A1 COL11A2
27 otospondylomegaepiphyseal dysplasia, autosomal recessive 29.9 COL2A1 COL11A2
28 enchondromatosis, multiple, ollier type 29.9 PTHLH PTH1R COL2A1
29 atelosteogenesis 29.9 SLC26A2 PAPSS2 FLNB FLNA
30 multiple epiphyseal dysplasia 29.8 SLC26A2 MATN3 COMP COL2A1 COL11A2
31 fibrochondrogenesis 29.8 SOX9 COL2A1 COL11A2
32 achondrogenesis, type ii 29.7 SLC26A2 MATN3 COMP COL2A1 COL11A2
33 frontometaphyseal dysplasia 29.7 PAPSS2 FLNB FLNA
34 metatropic dysplasia 29.7 TRPV4 SOX9 COL2A1 COL11A2
35 metaphyseal chondrodysplasia, jansen type 29.7 PTHLH PTH1R FGFR3
36 brittle bone disorder 29.5 SOX9 PTHLH PTH1R FGFR3 CTSK COMP
37 metachondromatosis 29.2 PTHLH PTH1R CTSK COL2A1
38 stickler syndrome 29.2 SOX9 MATN3 COL2A1 COL11A2
39 brachydactyly 29.2 TRPV4 PTHLH PAPSS2 FGFR3 COMP COL2A1
40 osteoarthritis 29.0 SOX9 MATN3 COMP COL2A1 COL11A2
41 spondyloepiphyseal dysplasia with congenital joint dislocations 28.9 TRPV4 TRAPPC2 SLC26A2 PAPSS2 FLNB FGFR3
42 cleft palate, isolated 28.7 SOX9 FLNB FLNA FGFR3 COL2A1 COL11A2
43 scoliosis 28.4 TRPV4 SOX9 HSPG2 FLNB FLNA FGFR3
44 bone disease 28.2 TRAPPC2 PTHLH PTH1R MATN3 FLNB FLNA
45 odontochondrodysplasia 26.4 TRPV4 TRAPPC2 SOX9 SLC26A2 PTHLH PTH1R
46 beukes hip dysplasia 11.2
47 fibular hemimelia 11.1
48 atelosteogenesis, type i 11.0
49 otopalatodigital syndrome, type ii 11.0
50 mesomelia 11.0

Graphical network of the top 20 diseases related to Skeletal Dysplasias:



Diseases related to Skeletal Dysplasias

Symptoms & Phenotypes for Skeletal Dysplasias

GenomeRNAi Phenotypes related to Skeletal Dysplasias according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.68 FLNA
2 Decreased viability GR00055-A-2 9.68 FLNA
3 Decreased viability GR00221-A-1 9.68 FGFR3
4 Decreased viability GR00221-A-2 9.68 FGFR3
5 Decreased viability GR00221-A-3 9.68 FGFR3
6 Decreased viability GR00240-S-1 9.68 POP1
7 Decreased viability GR00249-S 9.68 FGFR3 FLNA FLNB POP1 SOX9 TRPV4
8 Decreased viability GR00381-A-1 9.68 CTSK SLC26A2
9 Decreased viability GR00386-A-1 9.68 FLNA FLNB PTH1R
10 Decreased viability GR00402-S-2 9.68 COMP CTSK HSPG2 POP1 PTH1R SOX9

MGI Mouse Phenotypes related to Skeletal Dysplasias:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.38 BMPER COL11A2 COL2A1 COMP CTSK FGFR3
2 behavior/neurological MP:0005386 10.36 COL11A2 COL2A1 COMP CTSK FGFR3 FLNA
3 craniofacial MP:0005382 10.36 BMPER COL11A2 COL2A1 CTSK FGFR3 FLNA
4 cardiovascular system MP:0005385 10.31 BMPER COL11A2 COL2A1 COMP FLNA FLNB
5 homeostasis/metabolism MP:0005376 10.31 COL11A2 COL2A1 COMP CTSK FGFR3 FLNA
6 cellular MP:0005384 10.26 COL2A1 COMP CTSK FGFR3 FLNA FLNB
7 limbs/digits/tail MP:0005371 10.21 BMPER COL2A1 COMP CTSK FGFR3 FLNB
8 immune system MP:0005387 10.18 COL2A1 COMP CTSK FGFR3 FLNA FLNB
9 digestive/alimentary MP:0005381 10.15 COL2A1 CTSK FGFR3 FLNA HSPG2 PAPSS2
10 mortality/aging MP:0010768 10.13 BMPER COL2A1 FGFR3 FLNA FLNB HSPG2
11 nervous system MP:0003631 10.03 BMPER COL2A1 CTSK FGFR3 FLNA FLNB
12 hearing/vestibular/ear MP:0005377 10 BMPER COL11A2 COL2A1 FGFR3 HSPG2 SOX9
13 respiratory system MP:0005388 9.93 BMPER COL2A1 CTSK FGFR3 FLNA FLNB
14 skeleton MP:0005390 9.89 BMPER COL11A2 COL2A1 COMP CTSK FGFR3
15 vision/eye MP:0005391 9.32 BMPER COL2A1 FGFR3 FLNA HSPG2 IFT81

Drugs & Therapeutics for Skeletal Dysplasias

Drugs for Skeletal Dysplasias (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
3
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
4
Losartan Approved Phase 2 114798-26-4 3961
5 Psychotropic Drugs Phase 2
6 Anticonvulsants Phase 2
7 Neurotransmitter Agents Phase 2
8 Histone Deacetylase Inhibitors Phase 2
9 Giapreza Phase 2
10 Angiotensin II Type 1 Receptor Blockers Phase 2
11 Angiotensin Receptor Antagonists Phase 2
12 Angiotensinogen Phase 2
13 Antihypertensive Agents Phase 2
14 Anti-Arrhythmia Agents Phase 2
15 Anesthetics Phase 2
16 Pharmaceutical Solutions

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Immunodeficiency in Cartilage-hair Hypoplasia: Correlation With Pulmonary Disease, Infections and Malignancy Active, not recruiting NCT02383797 Phase 4
2 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
3 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
4 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
5 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Recruiting NCT03632213 Phase 2 Losartan;Placebo
6 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2
7 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation: A Phase I Study Completed NCT00186914 Phase 1
8 Physical Activity, Motor Competence, Pulmonary Function, and Quality of Life in Children With Severe Spinal Disease Unknown status NCT03494829
9 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
10 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
11 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
12 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
13 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
14 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
15 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Completed NCT03150069
16 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
17 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
18 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
19 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
20 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
21 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
23 Natural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert Center Active, not recruiting NCT03204370 Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
24 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Enrolling by invitation NCT03548779
25 Identification and Characterization of Bone-related Genetic Variants in Families Terminated NCT02762318
26 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
27 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
28 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Skeletal Dysplasias

Genetic Tests for Skeletal Dysplasias

Anatomical Context for Skeletal Dysplasias

MalaCards organs/tissues related to Skeletal Dysplasias:

40
Bone, Bone Marrow, Fetal Lung, Spinal Cord, Trachea, Eye, Pancreas

Publications for Skeletal Dysplasias

Articles related to Skeletal Dysplasias:

(show top 50) (show all 1139)
# Title Authors PMID Year
1
Mutations in two regions of FLNB result in atelosteogenesis I and III. 61 54
16752402 2006
2
Human 3'-phosphoadenosine 5'-phosphosulfate (PAPS) synthase: biochemistry, molecular biology and genetic deficiency. 61 54
12716056 2003
3
The genetic basis of the osteochondrodysplasias. 54 61
11008738 2000
4
Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture. 54 61
9756911 1998
5
Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. 61 54
9575183 1998
6
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. 61 54
7859284 1995
7
Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. 54 61
8314082 1994
8
Impaired neurite development and mitochondrial dysfunction associated with calcium accumulation in dopaminergic neurons differentiated from the dental pulp stem cells of a patient with metatropic dysplasia. 61
33748438 2021
9
TRPV4 activity regulates nuclear Ca2+ and transcriptional functions of β-catenin in a renal epithelial cell model. 61
33044004 2021
10
Revisiting Skeletal Dysplasias in the Newborn. 61
33795397 2021
11
Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues. 61
32633442 2021
12
Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy. 61
33710406 2021
13
A novel de novo mutation in COL1A1 leading to osteogenesis imperfecta confirmed by zebrafish model. 61
33705765 2021
14
A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia. 61
33678343 2021
15
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype. 61
33774370 2021
16
[Rare bone disorders and respective treatments]. 61
33779789 2021
17
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders. 61
33398909 2021
18
3D printed models can guide safe halo pin placement in patients with diastrophic dysplasia. 61
33464553 2021
19
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. 61
33252156 2021
20
Assessing the effect of physeal biopsy on angular deformity in a rabbit model. 61
31651751 2021
21
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy. 61
33473208 2021
22
Radiologic Features of Type II and Type XI Collagenopathies. 61
33186059 2021
23
Skeletal dysplasias in Latin America. 61
33219737 2020
24
Skeletal dysplasia-like syndromes in wild giraffe. 61
33380342 2020
25
Functioning and equality according to International Classification of Functioning, Disability and Health (ICF) in people with skeletal dysplasia compared to matched control subjects - a cross-sectional survey study. 61
33276750 2020
26
Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin. 61
33075594 2020
27
Pediatric radiology in the diagnosis and management of skeletal dysplasias - welcome to the era of genomic medicine and modern drug pipelines. 61
33135134 2020
28
MicroRNAs in cartilage development and dysplasia. 61
32745689 2020
29
Genetics for paediatric radiologists. 61
33135138 2020
30
The radiologic diagnosis of skeletal dysplasias: past, present and future. 61
33135135 2020
31
Major skull manifestations of skeletal dysplasias - pictorial essay. 61
33135136 2020
32
Etiology of severe short stature below -3 SDS in a screened Finnish population. 61
33107436 2020
33
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy. 61
32856782 2020
34
Spine radiograph in dysplasias: A pictorial essay. 61
33737772 2020
35
PYKNODYSOSTOSIS (OSTEOPETROSIS ACRO-OSTEOLYTICA). 61
32984533 2020
36
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants. 61
32311039 2020
37
Joint Replacements in Individuals With Skeletal Dysplasias: One Institution's Experience and Response to Operative Complications. 61
32386881 2020
38
Molecular testing strategies in the evaluation of fetal skeletal dysplasia. 61
32752906 2020
39
Use of Growth Hormone Treatment in Skeletal Dysplasia - A Review. 61
32780956 2020
40
Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in China. 61
32360156 2020
41
Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain. 61
32470698 2020
42
Morphometric study of the primary ossification center of the frontal squama in the human fetus. 61
32025797 2020
43
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. 61
31988067 2020
44
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases. 61
32552261 2020
45
Sitting Height to Standing Height Ratio Reference Charts for Children in the United States. 61
32579888 2020
46
The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias. 61
32227640 2020
47
Osteoclast-derived exosomal let-7a-5p targets Smad2 to promote the hypertrophic differentiation of chondrocytes. 61
32374679 2020
48
Early Gestational Diagnosis of Lethal Skeletal Dysplasias: A 15 Year Retrospective Cohort Reviewing Concordance between Ultrasonographic, Genetic and Morphological Features. 61
32401097 2020
49
FGF23-Related Hypophosphataemic Bone Disease. 61
32236867 2020
50
Growth Plate Pathology in the Mucopolysaccharidosis Type VI Rat Model-An Experimental and Computational Approach. 61
32486376 2020

Variations for Skeletal Dysplasias

Expression for Skeletal Dysplasias

Search GEO for disease gene expression data for Skeletal Dysplasias.

Pathways for Skeletal Dysplasias

Pathways related to Skeletal Dysplasias according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 FLNB FLNA COMP COL2A1 COL11A2
2
Show member pathways
12.09 MATN3 HSPG2 CTSK COMP COL2A1 COL11A2
3 11.47 SOX9 FGFR3 COL2A1 COL11A2
4 11.41 SOX9 HSPG2 COL2A1
5 10.83 SOX9 PTHLH PTH1R FGFR3 COL2A1

GO Terms for Skeletal Dysplasias

Cellular components related to Skeletal Dysplasias according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.81 PTHLH POP1 NPPC HSPG2 CTSK COMP
2 focal adhesion GO:0005925 9.72 TRPV4 HSPG2 FLNB FLNA FGFR3
3 collagen-containing extracellular matrix GO:0062023 9.65 MATN3 HSPG2 COMP COL2A1 COL11A2
4 extracellular region GO:0005576 9.36 PTHLH NPPC MATN3 HSPG2 FLNA FGFR3
5 extracellular matrix GO:0031012 9.35 MATN3 COMP COL2A1 COL11A2 BMPER

Biological processes related to Skeletal Dysplasias according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.91 SOX9 PTHLH COMP COL2A1
2 extracellular matrix organization GO:0030198 9.8 SOX9 MATN3 HSPG2 COMP COL2A1 COL11A2
3 bone mineralization GO:0030282 9.67 PTHLH PTH1R FGFR3 COMP
4 cartilage development GO:0051216 9.65 SOX9 MATN3 COMP COL2A1 COL11A2
5 collagen fibril organization GO:0030199 9.63 COMP COL2A1 COL11A2
6 negative regulation of chondrocyte differentiation GO:0032331 9.6 SOX9 PTHLH
7 cartilage condensation GO:0001502 9.59 SOX9 COL2A1
8 chondrocyte development GO:0002063 9.58 SOX9 COMP
9 osteoblast development GO:0002076 9.58 PTHLH PTH1R
10 tissue homeostasis GO:0001894 9.58 SOX9 COL2A1 COL11A2
11 chondrocyte proliferation GO:0035988 9.57 FGFR3 COMP
12 limb bud formation GO:0060174 9.56 SOX9 COL2A1
13 notochord development GO:0030903 9.55 SOX9 COL2A1
14 chondrocyte differentiation GO:0002062 9.55 SOX9 PTH1R FGFR3 COL2A1 COL11A2
15 endochondral bone growth GO:0003416 9.54 FGFR3 COMP
16 otic vesicle development GO:0071599 9.52 SOX9 COL2A1
17 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.51 TRPV4 COL2A1
18 positive regulation of chondrocyte proliferation GO:1902732 9.49 SOX9 COMP
19 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process GO:0050428 9.48 SLC26A2 PAPSS2
20 anterior head development GO:0097065 9.43 SOX9 COL2A1
21 ossification GO:0001503 9.43 SOX9 SLC26A2 PTH1R NPPC COMP COL2A1
22 skeletal system development GO:0001501 9.32 TRAPPC2 SOX9 PTHLH PTH1R PAPSS2 MATN3

Molecular functions related to Skeletal Dysplasias according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.26 MATN3 COMP COL2A1 COL11A2
2 proteoglycan binding GO:0043394 8.8 CTSK COMP COL2A1

Sources for Skeletal Dysplasias

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