SEDCJD
MCID: SPN209
MIFTS: 66

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

Name: Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 57 12 20 43 73 36 29 13 6 15 37 39
Spondyloepiphyseal Dysplasia 12 74 20 36 54 6 71 32
Chst3-Related Skeletal Dysplasia 12 25 20 43 58
Spondyloepiphyseal Dysplasia, Omani Type 57 20 43 71
Humerospinal Dysostosis 57 12 20 73
Chondrodysplasia with Congenital Joint Dislocations, Chst3 Type 25 20 58
Chondrodysplasia with Multiple Dislocations 57 12 43
Spondyloepiphyseal Dysplasia with Congenital Joint Dyslocations, Chst3 Type 20 58
Kozlowski Celermajer Tink Syndrome 12 71
Sedcjd 57 73
Cdmd 57 43
Hsd 57 73
Humero-Spinal Dysostosis with Congenital Heart Disease 12
Chondrodysplasia with Multiple Dislocations; Cdmd 57
Spondyloepiphyseal Dysplasia Omani Type 73
Spondyloepiphyseal Dysplasia, Congenita 71
Larsen Syndrome, Autosomal Recessive 6
Autosomal Recessive Larsen Syndrome 43
Larsen Syndrome, Recessive Type 71
Sed with Luxations, Chst3 Type 43
Humerospinal Dysostosis; Hsd 57
Recessive Larsen Syndrome 25
Mucopolysaccharidosis Iv 71
Humero-Spinal Dysostosis 43
Chst3-Related Dysplasia 25
Chst3 Deficiency 25
Sdcd, Chst3 Type 58
Sed, Omani Type 43
Sed Omani Type 73
Omani Type 12

Characteristics:

Orphanet epidemiological data:

58
chst3-related skeletal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

31
spondyloepiphyseal dysplasia with congenital joint dislocations:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

MedlinePlus Genetics : 43 CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). Other bone and joint abnormalities can include an inward- and upward-turning foot (clubfoot), a limited range of motion in large joints, and abnormal curvature of the spine. The features of CHST3-related skeletal dysplasia are usually limited to the bones and joints; however, minor heart defects have been reported in a few affected individuals.Researchers have not settled on a preferred name for this condition. It is sometimes known as autosomal recessive Larsen syndrome based on its similarity to another skeletal disorder called Larsen syndrome. Other names that have been used to describe the condition include spondyloepiphyseal dysplasia, Omani type; humero-spinal dysostosis; and chondrodysplasia with multiple dislocations. Recently, researchers have proposed the umbrella term CHST3-related skeletal dysplasia to refer to bone and joint abnormalities resulting from mutations in the CHST3 gene.

MalaCards based summary : Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations, also known as spondyloepiphyseal dysplasia, is related to spondyloepiphyseal dysplasia tarda, x-linked and spondyloepiphyseal dysplasia congenita, and has symptoms including waddling gait and respiratory distress. An important gene associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations is CHST3 (Carbohydrate Sulfotransferase 3), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Phospholipase-C Pathway. The drugs Angiotensin II and Losartan have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and eye, and related phenotypes are hypertelorism and flexion contracture

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.

GARD : 20 Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, spondyloepiphyseal dysplasia congenita (which is present from bith) and spondyloepiphyseal dysplasia tarda (which develops later in childhood or adolescence). Spondyloepiphyseal dysplasia is caused by mutations in genes that are responsible for making proteins that are needed for the creation of bone and cartilage. Most cases are due to a new (de novo) mutation, although it can be passed down through families. Treatment is aimed at managing the symptoms and associated complications as they arise.

OMIM® : 57 Although patients with mutations in the CHST3 gene may initially be given varying diagnostic labels, they have similar clinical features, including dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture, and affected individuals may receive an initial clinical diagnosis of Larsen syndrome (see 245600) or humerospinal dysostosis. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disc degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood; at this stage, the clinical features are those previously described as the Omani type of SED (summary by Unger et al., 2010). (143095) (Updated 05-Mar-2021)

KEGG : 36 Spondyloepiphyseal dysplasia (SED) refers to a heterogeneous group of disorders with primary involvement of vertebrae and epiphyseal centers of long bones. Three major types of SED are recognized SED congenita, pseudoachondroplasia, and SED tarda.

UniProtKB/Swiss-Prot : 73 Spondyloepiphyseal dysplasia with congenital joint dislocations: A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood.

Wikipedia : 74 Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of... more...

GeneReviews: NBK62112

Related Diseases for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Diseases related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 284)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia tarda, x-linked 33.4 TRAPPC2B TRAPPC2 CCN6
2 spondyloepiphyseal dysplasia congenita 33.2 TRAPPC2 COL9A1 COL2A1 COL11A2 CHST3
3 progressive pseudorheumatoid dysplasia 33.0 COL2A1 CCN6
4 pseudoachondroplasia 32.8 COL9A1 COL2A1 ACAN
5 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 32.4 B4GALT7 B3GAT3
6 hypochondrogenesis 32.1 COL9A1 COL2A1 ACAN
7 stickler syndrome, type i 32.1 COL2A1 COL11A1
8 marshall syndrome 31.8 COL9A1 COL2A1 COL11A2 COL11A1
9 arthropathy 31.2 TRPV4 COL2A1 CCN6 ACAN
10 kniest dysplasia 31.0 COL9A1 COL2A1 COL11A2 COL11A1
11 achondroplasia 30.9 FGFR3 COL2A1 ACAN
12 osteoarthritis 30.9 COL9A1 COL2A1 COL11A2 ACAN
13 type ii collagen disorders 30.9 TRPV4 COL2A1
14 dysostosis 30.8 RNU6ATAC RNU4ATAC FGFR3 CHST3
15 retinal detachment 30.8 COL9A1 COL2A1 COL11A1
16 myopia 30.7 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
17 skeletal dysplasias 30.6 TRPV4 TRAPPC2 FGFR3 COL2A1 COL11A2
18 dwarfism 30.6 TRPV4 RNU4ATAC FGFR3
19 multiple epiphyseal dysplasia 30.6 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
20 vitreoretinal degeneration 30.6 COL2A1 COL11A1
21 hypochondroplasia 30.6 FGFR3 COL2A1 ACAN
22 larsen syndrome 30.6 CHST3 CHST14 B4GALT7 B3GAT3 B3GALT6
23 bone disease 30.4 TRAPPC2 FGFR3 COL2A1 ACAN
24 osteochondrosis 30.4 GALNS COL9A1 COL2A1 ACAN
25 otospondylomegaepiphyseal dysplasia, autosomal recessive 30.3 COL9A1 COL2A1 COL11A2 COL11A1
26 brachydactyly 30.3 TRPV4 SMARCA2 RNU6ATAC RNU4ATAC FGFR3 COL2A1
27 desbuquois dysplasia 30.3 CHST3 CHST14 B4GALT7 B3GAT3 B3GALT6
28 morquio syndrome 30.3 TRPV4 GALNS
29 metatropic dysplasia 30.3 TRPV4 COL2A1 COL11A2
30 avascular necrosis 30.2 TRPV4 COL2A1
31 cleft palate, isolated 30.2 FGFR3 COL9A1 COL2A1 COL11A2 COL11A1
32 achondrogenesis 30.2 FGFR3 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
33 ehlers-danlos syndrome 30.2 CHST14 B4GALT7 B3GALT6
34 fibrochondrogenesis 30.2 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
35 schneckenbecken dysplasia 30.2 COL11A2 COL11A1
36 clubfoot 30.1 TRPV4 COL2A1 CHST3 CHST14
37 vitreous syneresis 30.1 COL9A1 COL2A1 COL11A2 COL11A1
38 strabismus 30.1 FGFR3 COL9A1 COL2A1 COL11A1
39 achondrogenesis, type ii 30.0 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
40 spinal stenosis 30.0 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
41 stickler syndrome 30.0 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
42 brittle bone disorder 29.9 FGFR3 COL2A1 COL11A2 COL11A1 B4GALT7 ACAN
43 odontochondrodysplasia 28.6 TRPV4 TRAPPC2B TRAPPC2 SMARCAL1 SMARCA2 RNU6ATAC
44 spondyloepiphyseal dysplasia, maroteaux type 11.8
45 spondyloepiphyseal dysplasia, kimberley type 11.7
46 3-beta-hydroxysteroid dehydrogenase deficiency 11.7
47 spondyloepiphyseal dysplasia, stanescu type 11.7
48 spondyloepiphyseal dysplasia, kondo-fu type 11.6
49 schimke immunoosseous dysplasia 11.6
50 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.6

Graphical network of the top 20 diseases related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:



Diseases related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Human phenotypes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0001371
3 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
4 disproportionate short-trunk short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003521
5 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
6 cubitus valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002967
7 waddling gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002515
8 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
9 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
10 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
11 sparse eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0045075
12 irregular epiphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0010582
13 enlarged joints 58 31 hallmark (90%) Very frequent (99-80%) HP:0003037
14 barrel-shaped chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0001552
15 small epiphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0010585
16 intervertebral space narrowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002945
17 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
18 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
19 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
20 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
21 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
22 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
23 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
24 abnormality of cardiovascular system morphology 58 31 frequent (33%) Frequent (79-30%) HP:0030680
25 sparse and thin eyebrow 31 frequent (33%) HP:0000535
26 scoliosis 58 Very frequent (99-80%)
27 high palate 31 HP:0000218
28 short neck 31 HP:0000470
29 hearing impairment 31 HP:0000365
30 delayed skeletal maturation 31 HP:0002750
31 widely spaced teeth 31 HP:0000687
32 pes planus 31 HP:0001763
33 microtia 31 HP:0008551
34 microdontia 31 HP:0000691
35 wide intermamillary distance 31 HP:0006610
36 shield chest 31 HP:0000914
37 talipes equinovarus 31 HP:0001762
38 mitral regurgitation 31 HP:0001653
39 bilateral single transverse palmar creases 31 HP:0007598
40 ventricular septal defect 31 HP:0001629
41 pulmonic stenosis 31 HP:0001642
42 abnormality of the elbow 58 Very frequent (99-80%)
43 short distal phalanx of finger 31 HP:0009882
44 pulmonary arterial hypertension 31 HP:0002092
45 elbow dislocation 31 HP:0003042
46 camptodactyly of finger 31 HP:0100490
47 hypoplasia of the ulna 31 HP:0003022
48 shoulder dislocation 31 HP:0003834
49 delayed gross motor development 31 HP:0002194
50 mitral stenosis 31 HP:0001718

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
coronal cleft vertebrae
lumbar lordosis
kyphosis (onset 3-6 months)
kyphoscoliosis, severe progressive (>12 years old)
more
Head And Neck Eyes:
hypertelorism
sparse and high-arched eyebrows (in some patients)

Skeletal Feet:
pes planus
talipes equinovarus
club feet
camptodactyly (present at birth)
accessory ossification centers

Skeletal Hands:
brachydactyly
transverse palmar crease
short metacarpals
short phalanges
camptodactyly (present at birth)
more
Neurologic Central Nervous System:
delayed gross motor development
normal intelligence

Skin Nails Hair Skin:
transverse palmar crease

Growth Height:
normal birth length
length <3rd percentile by 6 months
short stature, prenatal and postnatal
adult height 110-130cm

Head And Neck Mouth:
high-arched palate

Head And Neck Face:
broad forehead (in some patients)
long philtrum (in some patients)

Skeletal Pelvis:
limited hip abduction/extension (progressive from birth)
iliac bones widened
iliac bones prominent

Head And Neck Neck:
short neck

Head And Neck Teeth:
widely spaced teeth
microdontia
delayed dentition

Skeletal Limbs:
cubitus valgus
shoulder dislocation
rhizomelic shortening
elbow dislocation/subluxation
fixed elbow flexion (birth)
more
Cardiovascular Heart:
ventricular septal defect
hypertrophy of all 4 chambers of heart
mitral valve, thickening to severe stenosis
mitral regurgitation, mild to moderate
tricuspid valve, thickening to severe stenosis
more
Skeletal:
spondyloepiphyseal dysplasia
delayed bone age
diffuse osseous demineralization
joint dislocations, congenital or in young adult (knee, hip, shoulder)
joint contractures, onset school age (shoulder, ankle)

Cardiovascular Vascular:
pulmonary hypertension

Head And Neck Ears:
small ears
deafness

Chest Breasts:
widely spaced nipples

Chest External Features:
broad chest (neonate)
hunched up shoulders (more prominent in adults)
barrel-shaped chest (more prominent in adults)

Clinical features from OMIM®:

143095 (Updated 05-Mar-2021)

UMLS symptoms related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:


waddling gait, respiratory distress

MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.63 COL11A1 COL11A2 COL2A1 COL9A1 FGFR3 TRPV4
2 renal/urinary system MP:0005367 9.5 CHST14 COL2A1 FGFR3 GALNS SMARCA2 SMARCAL1
3 skeleton MP:0005390 9.32 CHST14 CHST3 COL11A1 COL11A2 COL2A1 COL9A1

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Drugs for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
2
Losartan Approved Phase 2 114798-26-4 3961
3
Morphine Approved, Investigational Phase 2 57-27-2 5288826
4 Angiotensinogen Phase 2
5 Antihypertensive Agents Phase 2
6 Angiotensin II Type 1 Receptor Blockers Phase 2
7 Giapreza Phase 2
8 Angiotensin Receptor Antagonists Phase 2
9 Anti-Arrhythmia Agents Phase 2
10 Pharmaceutical Solutions

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
2 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
3 A Phase 2, Open-label, Multinational Clinical Study to Evaluate the Safety and Efficacy of BMN 110 in Pediatric Patients Less Than 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
4 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
5 A Multicenter, Multinational, Open-Label, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Terminated NCT01242111 Phase 1, Phase 2 BMN 110
6 A Randomized, Double-Blind, Pilot Study of the Safety and Physiological Effects of Two Doses of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Terminated NCT01609062 Phase 2 BMN 110;BMN 110
7 A Phase 2, Open-label, Multinational Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Who Have Limited Ambulation Terminated NCT01697319 Phase 2 BMN 110
8 A Multicenter, Open-label BMN 110 US Expanded Access Program (BMN 110 US EAP) to Provide BMN 110 to Patients Diagnosed With MPS IVA Approved for marketing NCT01858103 BMN 110
9 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
10 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
11 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
12 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
13 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
14 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
15 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
16 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Completed NCT03150069
17 Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses Recruiting NCT04624789
18 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
19 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
20 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
21 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]
22 Natural History of Morquio B and Late-Onset GM1 Gangliosidosis Not yet recruiting NCT04320329
23 Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA) Terminated NCT01733615
24 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
25 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
26 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Inferred drug relations via UMLS 71 / NDF-RT 51 :


ELOSULFASE ALFA

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905

Genetic Tests for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Genetic tests related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

# Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 29 CHST3

Anatomical Context for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

40
Bone, Heart, Eye, Spinal Cord, Kidney, Lung, Skin

Publications for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Articles related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

(show top 50) (show all 585)
# Title Authors PMID Year
1
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. 57 6 25 61
19320654 2009
2
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. 25 6 57 61
18698629 2008
3
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. 6 25 61 57
18513679 2008
4
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. 6 25 57 61
15215498 2004
5
Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement. 25 57 6 61
15098240 2004
6
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. 6 25 57
20830804 2010
7
A newly recognized chondrodysplasia with multiple dislocations. 25 57 6
15368507 2004
8
Humero-spinal dysostosis: report of the fourth case with emphasis on generalized skeletal involvement, abnormal craniofacial features, and mitral valve thickening. 25 57 6
9039660 1997
9
Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability. 6 57
23918704 2013
10
Humero-spinal dysostosis. 6 57
112567 1979
11
Humero-spinal dysostosis with congenital heart disease. 57 25
4814886 1974
12
Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. 61 25
27753269 2017
13
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. 61 25
26572954 2016
14
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. 61 25
24755949 2015
15
Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: report on a second Lebanese patient. 57
17618475 2007
16
Humeroradioulnar synostosis appearing as distal humeral bifurcation in a patient with distal phocomelia of the upper limbs and radial ectrodactyly. 57
6465206 1984
17
Apparent bifurcatio of distal humerous with oligoectro-syndactyly. 57
6305194 1983
18
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. 25
28229453 2017
19
Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations. 25
28396765 2017
20
Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). 25
24300290 2014
21
A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita. 61 54
17509551 2007
22
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. 25
16801345 2007
23
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene. 54 61
16957471 2006
24
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. 61 54
16237566 2005
25
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. 61 54
16080123 2005
26
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia. 61 54
15316971 2004
27
Spondyloepiphyseal dysplasia congenita with absent femoral head. 54 61
15076581 2004
28
A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. 54 61
12968670 2003
29
Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. 54 61
12205105 2002
30
A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. 54 61
11424925 2001
31
Familial calcium crystal diseases: what have we learned? 61 54
11333354 2001
32
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. 54 61
10745044 2000
33
Familial and clinical aspects of calcium pyrophosphate deposition disease. 61 54
11123024 1999
34
Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders. 61 54
9711874 1998
35
Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1? 54 61
8877930 1996
36
Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia. 54 61
8893763 1996
37
Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation. 61 54
7705841 1995
38
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. 54 61
7847372 1995
39
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis. 54 61
7738948 1995
40
Molecular genetics of the human chondrodysplasias-1995. 54 61
8825578 1995
41
The type II collagenopathies: a spectrum of chondrodysplasias. 61 54
8157027 1994
42
Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation. 61 54
7866404 1994
43
A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia. 61 54
8019561 1994
44
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. 61 54
7700721 1994
45
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1). 54 61
8244341 1993
46
Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. 54 61
8325895 1993
47
The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. 61 54
8423604 1993
48
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. 61 54
1429602 1992
49
Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1). 54 61
1353665 1992
50
Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. 54 61
1905723 1991

Variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

6 (show top 50) (show all 260)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHST3 NM_004273.5(CHST3):c.776T>C (p.Leu259Pro) SNV Pathogenic 6041 rs121908616 10:73767565-73767565 10:72007807-72007807
2 CHST3 NM_004273.5(CHST3):c.1114G>A (p.Glu372Lys) SNV Pathogenic 6042 rs267606734 10:73767903-73767903 10:72008145-72008145
3 CHST3 NM_004273.5(CHST3):c.664C>T (p.Arg222Trp) SNV Pathogenic 6043 rs121908617 10:73767453-73767453 10:72007695-72007695
4 CHST3 NM_004273.5(CHST3):c.920T>C (p.Leu307Pro) SNV Pathogenic 6044 rs121908618 10:73767709-73767709 10:72007951-72007951
5 CHST3 NM_004273.5(CHST3):c.1086del (p.Arg363fs) Deletion Pathogenic 6045 rs1589509884 10:73767875-73767875 10:72008117-72008117
6 CHST3 NM_004273.5(CHST3):c.603C>A (p.Tyr201Ter) SNV Pathogenic 6046 rs121908619 10:73767392-73767392 10:72007634-72007634
7 CHST3 NM_004273.5(CHST3):c.857T>C (p.Leu286Pro) SNV Pathogenic 6047 rs121908620 10:73767646-73767646 10:72007888-72007888
8 CHST3 NM_004273.5(CHST3):c.422C>T (p.Thr141Met) SNV Pathogenic 6048 rs267606735 10:73767211-73767211 10:72007453-72007453
9 CHST3 NM_004273.5(CHST3):c.481C>T (p.Leu161Phe) SNV Pathogenic 6050 rs267606733 10:73767270-73767270 10:72007512-72007512
10 CHST3 NM_004273.5(CHST3):c.988C>T (p.Gln330Ter) SNV Pathogenic 6051 rs267606732 10:73767777-73767777 10:72008019-72008019
11 B3GAT3 NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) SNV Pathogenic 30573 rs387906937 11:62384057-62384057 11:62616585-62616585
12 CHST3 NM_004273.5(CHST3):c.1063G>A (p.Gly355Arg) SNV Pathogenic 225684 rs747171013 10:73767852-73767852 10:72008094-72008094
13 CHST3 NM_004273.5(CHST3):c.503T>G (p.Ile168Ser) SNV Pathogenic 828155 rs1589509307 10:73767292-73767292 10:72007534-72007534
14 CHST3 NM_004273.5(CHST3):c.491C>T (p.Pro164Leu) SNV Pathogenic 478823 rs771866012 10:73767280-73767280 10:72007522-72007522
15 CHST3 NM_004273.5(CHST3):c.904G>C (p.Asp302His) SNV Pathogenic 478822 rs1316347883 10:73767693-73767693 10:72007935-72007935
16 CHST3 NM_004273.5(CHST3):c.533dup (p.Ala179fs) Duplication Pathogenic 432012 rs769540174 10:73767316-73767317 10:72007558-72007559
17 CHST3 NM_004273.5(CHST3):c.1312C>T (p.Gln438Ter) SNV Pathogenic 522996 rs1416783446 10:73768101-73768101 10:72008343-72008343
18 B3GAT3 NM_012200.4(B3GAT3):c.175C>T (p.Arg59Ter) SNV Pathogenic 577885 rs535206047 11:62388051-62388051 11:62620579-62620579
19 B3GAT3 NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp) SNV Pathogenic 978466 rs765246909 11:62384596-62384596 11:62617124-62617124
20 B3GAT3 NM_012200.4(B3GAT3):c.889C>T (p.Arg297Trp) SNV Pathogenic 978467 rs759636773 11:62383998-62383998 11:62616526-62616526
21 CHST3 NM_004273.5(CHST3):c.1291dup (p.Ser431fs) Duplication Likely pathogenic 955770 10:73768079-73768080 10:72008321-72008322
22 B3GALT6 NM_080605.4(B3GALT6):c.763C>T (p.Gln255Ter) SNV Likely pathogenic 666963 rs1239366051 1:1168421-1168421 1:1233041-1233041
23 B4GALT7 NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) SNV Likely pathogenic 5613 rs28937869 5:177035995-177035995 5:177608994-177608994
24 CHST3 NM_004273.5(CHST3):c.417C>T (p.Ala139=) SNV Conflicting interpretations of pathogenicity 196378 rs144287889 10:73767206-73767206 10:72007448-72007448
25 CHST3 NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) SNV Conflicting interpretations of pathogenicity 6040 rs28937593 10:73767700-73767700 10:72007942-72007942
26 CHST3 NM_004273.5(CHST3):c.828C>T (p.Arg276=) SNV Conflicting interpretations of pathogenicity 300563 rs140547825 10:73767617-73767617 10:72007859-72007859
27 CHST3 NM_004273.5(CHST3):c.1347C>T (p.Arg449=) SNV Conflicting interpretations of pathogenicity 283598 rs200249458 10:73768136-73768136 10:72008378-72008378
28 CHST3 NM_004273.5(CHST3):c.1197C>T (p.Asp399=) SNV Conflicting interpretations of pathogenicity 300566 rs184636110 10:73767986-73767986 10:72008228-72008228
29 CHST3 NM_004273.5(CHST3):c.561G>C (p.Val187=) SNV Conflicting interpretations of pathogenicity 286649 rs147804585 10:73767350-73767350 10:72007592-72007592
30 CHST3 NM_004273.5(CHST3):c.570C>T (p.Asp190=) SNV Conflicting interpretations of pathogenicity 300562 rs367857089 10:73767359-73767359 10:72007601-72007601
31 CHST3 NM_004273.5(CHST3):c.1251G>C (p.Thr417=) SNV Conflicting interpretations of pathogenicity 300567 rs140411224 10:73768040-73768040 10:72008282-72008282
32 CHST3 NM_004273.5(CHST3):c.1135C>T (p.Leu379=) SNV Conflicting interpretations of pathogenicity 715153 rs564028722 10:73767924-73767924 10:72008166-72008166
33 CHST3 NM_004273.5(CHST3):c.1031A>G (p.Asn344Ser) SNV Uncertain significance 533429 rs777739643 10:73767820-73767820 10:72008062-72008062
34 CHST3 NM_004273.5(CHST3):c.510_511CA[1] (p.Thr171fs) Microsatellite Uncertain significance 632140 rs1564532120 10:73767299-73767300 10:72007541-72007542
35 B3GAT3 NM_012200.4(B3GAT3):c.247A>T (p.Thr83Ser) SNV Uncertain significance 649029 rs1590779613 11:62387979-62387979 11:62620507-62620507
36 CHST3 NM_004273.5(CHST3):c.1052C>A (p.Ser351Tyr) SNV Uncertain significance 800529 rs1057520111 10:73767841-73767841 10:72008083-72008083
37 CHST3 NM_004273.5(CHST3):c.680C>G (p.Ser227Cys) SNV Uncertain significance 522921 rs1554817549 10:73767469-73767469 10:72007711-72007711
38 B3GAT3 NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu) SNV Uncertain significance 548015 rs140755387 11:62384523-62384523 11:62617051-62617051
39 B3GAT3 NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln) SNV Uncertain significance 567412 rs1565074659 11:62383226-62383226 11:62615754-62615754
40 CHST3 NM_004273.5(CHST3):c.*4108G>A SNV Uncertain significance 879107 10:73772337-73772337 10:72012579-72012579
41 CHST3 NM_004273.5(CHST3):c.*4156A>T SNV Uncertain significance 879108 10:73772385-73772385 10:72012627-72012627
42 CHST3 NM_004273.5(CHST3):c.*4265T>G SNV Uncertain significance 879109 10:73772494-73772494 10:72012736-72012736
43 CHST3 NM_004273.5(CHST3):c.*4886G>C SNV Uncertain significance 879162 10:73773115-73773115 10:72013357-72013357
44 CHST3 NM_004273.5(CHST3):c.*5026C>T SNV Uncertain significance 879163 10:73773255-73773255 10:72013497-72013497
45 CHST3 NM_004273.5(CHST3):c.540C>T (p.Asn180=) SNV Uncertain significance 880072 10:73767329-73767329 10:72007571-72007571
46 CHST3 NM_004273.5(CHST3):c.1044C>G (p.Ile348Met) SNV Uncertain significance 880073 10:73767833-73767833 10:72008075-72008075
47 CHST3 NM_004273.5(CHST3):c.*786G>C SNV Uncertain significance 880126 10:73769015-73769015 10:72009257-72009257
48 CHST3 NM_004273.5(CHST3):c.*1385T>C SNV Uncertain significance 880171 10:73769614-73769614 10:72009856-72009856
49 CHST3 NM_004273.5(CHST3):c.*1453G>A SNV Uncertain significance 880172 10:73769682-73769682 10:72009924-72009924
50 B3GAT3 NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln) SNV Uncertain significance 854700 11:62384183-62384183 11:62616711-62616711

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations:

73
# Symbol AA change Variation ID SNP ID
1 CHST3 p.Arg304Gln VAR_021413 rs28937593
2 CHST3 p.Arg222Trp VAR_047856 rs121908617
3 CHST3 p.Leu259Pro VAR_047857 rs121908616
4 CHST3 p.Leu307Pro VAR_047858 rs121908618
5 CHST3 p.Glu372Lys VAR_047859 rs267606734

Expression for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.

Pathways for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Pathways related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to KEGG:

36
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532

Pathways related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 FGFR3 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
2
Show member pathways
12.42 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
3
Show member pathways
12.38 CHST3 CHST14 B4GALT7 B3GAT3 B3GALT6 ACAN
4 11.64 FGFR3 COL2A1 COL11A2
5
Show member pathways
11.61 CHST3 CHST14 B4GALT7 B3GAT3 B3GALT6 ACAN
6
Show member pathways
11.44 B4GALT7 B3GAT3 B3GALT6
7 11.31 FGFR3 COL2A1 ACAN
8 10.99 COL2A1 CHST3 ACAN
9 10.34 FGFR3 COL9A1 COL2A1 COL11A2 COL11A1 ACAN

GO Terms for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Cellular components related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.73 COL9A1 COL2A1 COL11A2 COL11A1
2 Golgi membrane GO:0000139 9.73 TRAPPC2 CHST3 CHST14 B4GALT7 B3GAT3 B3GALT6
3 collagen-containing extracellular matrix GO:0062023 9.72 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
4 basement membrane GO:0005604 9.54 COL9A1 COL2A1 ACAN
5 TRAPP complex GO:0030008 9.4 TRAPPC2B TRAPPC2
6 collagen trimer GO:0005581 9.26 COL9A1 COL2A1 COL11A2 COL11A1
7 collagen type XI trimer GO:0005592 9.16 COL11A2 COL11A1
8 extracellular matrix GO:0031012 9.1 COL9A1 COL2A1 COL11A2 COL11A1 CCN6 ACAN

Biological processes related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.83 CHST3 CHST14 B4GALT7 B3GAT3
2 extracellular matrix organization GO:0030198 9.8 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
3 cartilage development GO:0051216 9.69 COL2A1 COL11A2 COL11A1
4 chondrocyte differentiation GO:0002062 9.65 FGFR3 COL2A1 COL11A2
5 skeletal system morphogenesis GO:0048705 9.63 COL2A1 COL11A2 COL11A1
6 glycosaminoglycan biosynthetic process GO:0006024 9.61 B4GALT7 B3GAT3 B3GALT6
7 mRNA 5'-splice site recognition GO:0000395 9.58 RNU6ATAC RNU4ATAC
8 tissue homeostasis GO:0001894 9.57 COL2A1 COL11A2
9 chondrocyte development GO:0002063 9.56 COL11A1 ACAN
10 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.55 B3GAT3 B3GALT6
11 skeletal system development GO:0001501 9.55 TRAPPC2 FGFR3 COL2A1 COL11A2 ACAN
12 keratan sulfate catabolic process GO:0042340 9.54 GALNS ACAN
13 proteoglycan biosynthetic process GO:0030166 9.54 B4GALT7 B3GALT6 ACAN
14 cartilage condensation GO:0001502 9.5 COL2A1 COL11A1 ACAN
15 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.49 TRPV4 COL2A1
16 glycosaminoglycan metabolic process GO:0030203 9.43 B4GALT7 B3GAT3 B3GALT6
17 collagen fibril organization GO:0030199 9.26 COL2A1 COL11A2 COL11A1 ACAN
18 proteoglycan metabolic process GO:0006029 8.8 COL2A1 COL11A1 B4GALT7

Molecular functions related to Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.35 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
2 pre-mRNA 5'-splice site binding GO:0030627 9.16 RNU6ATAC RNU4ATAC
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL9A1 COL2A1 COL11A2 COL11A1

Sources for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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