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DDH1
MCID: DVL012
MIFTS: 46

Developmental Dysplasia of the Hip 1 (DDH1)

Categories: Bone diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Developmental Dysplasia of the Hip 1

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MalaCards integrated aliases for Developmental Dysplasia of the Hip 1:

Name: Developmental Dysplasia of the Hip 1 57 29 71
Developmental Dysplasia of the Hip 29 6 17
Acetabular Dysplasia 57 13
Hip Dysplasia, Developmental; Ddh 57
Hip Dysplasia, Congenital; Cdh 57
Developmental Dysplasia of Hip 20
Hip Dysplasia, Developmental 57
Congenital Dysplasia of Hip 20
Hip Dysplasia, Congenital 57
Congenital Hip Dysplasia 6
Ddh1 57
Ddh 57
Cdh 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
multifactorial

Miscellaneous:
preponderance of affected females (80%) to males
positive family history in 12-33% patients
incidence 1-1.5/1,000 live births


HPO:

31
developmental dysplasia of the hip 1:
Inheritance multifactorial inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 142700
OMIM Phenotypic Series 57 PS142700
MedGen 41 C1306065
SNOMED-CT via HPO 68 48334007 52781008
UMLS 71 C1306065
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Summaries for Developmental Dysplasia of the Hip 1

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OMIM® : 57 Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). (142700) (Updated 05-Mar-2021)

MalaCards based summary : Developmental Dysplasia of the Hip 1, also known as developmental dysplasia of the hip, is related to clubfoot and marfan syndrome. An important gene associated with Developmental Dysplasia of the Hip 1 is COL6A2 (Collagen Type VI Alpha 2 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Focal Adhesion. The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are congenital hip dislocation and acetabular dysplasia

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Related Diseases for Developmental Dysplasia of the Hip 1

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Diseases in the Developmental Dysplasia of the Hip 1 family:

Developmental Dysplasia of the Hip 2

Diseases related to Developmental Dysplasia of the Hip 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 clubfoot 30.3 COL5A1 COL2A1
2 marfan syndrome 29.7 COL5A1 COL2A1
3 diaphragmatic hernia, congenital 11.7
4 keratoconus and congenital hip dysplasia 11.2
5 diaphragmatic hernia 3 11.1
6 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 11.1
7 developmental dysplasia of the hip 2 11.0
8 avascular necrosis 10.4
9 pulmonary hypertension 10.3
10 neuromuscular disease 10.3
11 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
12 neural tube defects 10.3
13 ankylosis 10.3
14 congenital amyoplasia 10.3
15 urinary tract infection 10.2
16 juvenile rheumatoid arthritis 10.2
17 muscular atrophy 10.2
18 arthritis 10.2
19 specific language disorder 10.2
20 cerebral palsy 10.2
21 fryns syndrome 10.2
22 congenital torticollis 10.1
23 legg-calve-perthes disease 10.1
24 bone resorption disease 10.1
25 achondroplasia 10.0
26 fibrosis of extraocular muscles, congenital, 1 10.0
27 down syndrome 10.0
28 progressive pseudorheumatoid dysplasia 10.0
29 hemihyperplasia, isolated 10.0
30 body mass index quantitative trait locus 1 10.0
31 anxiety 10.0
32 avascular necrosis of femoral head, primary, 1 10.0
33 macular degeneration, age-related, 12 10.0
34 tendinitis 10.0
35 pain agnosia 10.0
36 infantile myofibromatosis 10.0
37 rickets 10.0
38 tethered spinal cord syndrome 10.0
39 pulmonary edema 10.0
40 graves' disease 10.0
41 spinal muscular atrophy 10.0
42 acute cystitis 10.0
43 frozen shoulder 10.0
44 calcinosis 10.0
45 thrombophilia 10.0
46 pigmented villonodular synovitis 10.0
47 bursitis 10.0
48 purpura 10.0
49 peroneal nerve paralysis 10.0
50 hyperthyroidism 10.0

Graphical network of the top 20 diseases related to Developmental Dysplasia of the Hip 1:



Diseases related to Developmental Dysplasia of the Hip 1
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Symptoms & Phenotypes for Developmental Dysplasia of the Hip 1

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Human phenotypes related to Developmental Dysplasia of the Hip 1:

31
# Description HPO Frequency HPO Source Accession
1 congenital hip dislocation 31 HP:0001374
2 acetabular dysplasia 31 HP:0008807

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Pelvis:
congenital hip dislocation
positive ortolani sign

Clinical features from OMIM®:

142700 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Developmental Dysplasia of the Hip 1

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Drugs for Developmental Dysplasia of the Hip 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
2
tannic acid Approved 1401-55-4
3
Ropivacaine Approved 84057-95-4 71273 175805
4
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
5
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
6 Pharmaceutical Solutions
7 Anesthetics
8 Anesthetics, Local

Interventional clinical trials:

(show all 30)
# Name Status NCT ID Phase Drugs
1 Post Approval Study: NOVATION Ceramic Articulation Hip System A Multi-Center, Open-Label Study to Evaluate the Mid and Long-Term Safety and Effectiveness of the Exactech NOVATION Ceramic Articulation Hip System Recruiting NCT00715143 Phase 4
2 Acetabular Labral Tear in Dysplastic Hips Unknown status NCT01345838
3 Universal Ultrasound-screening for Developmental Dysplasia of the Hip. 5-12 Years Followup of 4 200 Newborns Unknown status NCT01053299
4 Automatic Characterization of the Neonatal Hip Using Ultrasound Imaging Unknown status NCT02796768
5 Evaluation of Closed Reduction for Treatment of Developmental Dysplasia of the Hip in Children Unknown status NCT03193385
6 Three Novel Radiological Indicators for Diagnosis of Adult Acetabular Dysplasia: a Self-controlled, Diagnostic Trial Unknown status NCT03541122
7 Modified Triple Osteotomy for Acetabular Dysplasia - A Modified Technique for Better Femoral Head Medialization and Coverage Unknown status NCT01285154
8 Comparison of the Inner Side and Two-sided Approaches for Iliac Crest Bone Graft Harvesting for Pediatric Pelvic Osteotomy Completed NCT04425369
9 Selective Ultrasound Screening for Developmental Hip Dysplasia: Effect on Management and Late Detected Cases. A Prospective Survey During 1991-2006. Completed NCT01866527
10 Genetic Mechanisms and Additional Risk Factors Underlying Hip Dysplasia. The Bergen Birth Hip Cohort and Bergen Hip Screening Databank. Completed NCT04563819
11 Effect of Different Truncal Blocks Under Ultrasound-Guidance on Pain Management After Open Reduction of Pediatric Developmental Dysplasia of the Hip: a Randomized Trial Completed NCT03189966
12 Outcome After Arthroscopic Labrum Surgery in Patients Treated With Periacetabular Osteotomy Completed NCT02945995
13 A New Pelvic Osteotomy Method for Open Reduction in the Treatment of Developmental Dysplasia of the Hip in Children Completed NCT04007016
14 Immediate Treatment Compared With Active Sonographic Surveillance in the Management of Mild Hip Dysplasia in Newborn Infants: A Randomized, Controlled Trial Completed NCT00843258
15 Discovering the Gene(s) Causing Developmental Dysplasia of the Hip Completed NCT01193673
16 Ultrasound Screening for Developmental Dysplasia of the Hip in the Neonate: The Effect on Treatment Rate and Prevalence of Late Cases Completed NCT01818934
17 Investigation the Effects of Core Stabilization Training on Gait, Balance, Muscle Strength, Functions, Fear of Movement and Quality of Life in Individuals With Developmental Hip Dysplasia Completed NCT04006574
18 Erector Spinae Plane Block for Congenital Hip Dislocation Surgery: Randomized Controlled Double Blind Study Completed NCT03949686 Saline Solution;Bupivacaine
19 A Prospective Cohort Study on Targeted Exercise and Changes in Femoroacetabular Impingement in Symptomatic Patients With Acetabular Retroversion (TILT-FAI) Completed NCT03578562
20 A Prospective, International Hip Dysplasia Registry With Follow-up to Skeletal Maturity: An Analysis of Risk Factors, Screening Practices and Treatment Outcomes Recruiting NCT04117685
21 Early Abduction Splintage on Stable Hips in Infants With Developmental Dysplasia of the Hip : Improvement or Overtreatment ? Recruiting NCT02885831
22 Evaluation of T1rho Magnetic Resonance Imaging for Diagnosis of Cartilage Lesions in Hips With Developmental Dysplasia Recruiting NCT02185365
23 Effectiveness of Cotton vs. Waterproof Cast Padding After Application of Hip Spica: A Randomized Controlled Study Recruiting NCT03859232
24 Evaluation of Aid to Diagnosis for Congenital Dysplasia of the Hip in General Practice: Controlled Randomised Trial Recruiting NCT04101903
25 A Non-Inferiority Trial Assessing a Limited Ultrasound Protocol in the Treatment of Developmental Dysplasia of the Hip Recruiting NCT03608475
26 Normative Radiographic Parameters and Growth Curve of Hips Less Than Six Weeks of Gestational Age Using Ultrasound Recruiting NCT03109444
27 Pericapsular Nerve Group (PENG) Block for Congenital Hip Dislocation Surgery: Randomized Controlled Double Blind Study Recruiting NCT04212039 Saline Solution;Bupivacaine
28 Use of Intraoperative Contrast-Enhanced Ultrasound to Evaluate Femoral Head Perfusion in Infants With Developmental Hip Dysplasia After Surgical Reduction Active, not recruiting NCT03107520 Early Phase 1 Lumason
29 Structural and Functional Sequelae of Developmental Dysplasia of the Hip Active, not recruiting NCT02431871
30 How Should Stable Graf Type IIc Hips be Treated With Pavlik Harness? Not yet recruiting NCT03275805

Search NIH Clinical Center for Developmental Dysplasia of the Hip 1

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Genetic Tests for Developmental Dysplasia of the Hip 1

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Genetic tests related to Developmental Dysplasia of the Hip 1:

# Genetic test Affiliating Genes
1 Developmental Dysplasia of the Hip 29
2 Developmental Dysplasia of the Hip 1 29
Sources

Anatomical Context for Developmental Dysplasia of the Hip 1

About this section

MalaCards organs/tissues related to Developmental Dysplasia of the Hip 1:

40
Bone, Skin, Brain, Liver, Lung, Thyroid
Sources

Publications for Developmental Dysplasia of the Hip 1

About this section

Articles related to Developmental Dysplasia of the Hip 1:

(show top 50) (show all 2122)
# Title Authors PMID Year
1
Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family. 57 61
23716478 2013
2
Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q. 57
16773577 2006
3
A two-locus model for non-syndromic congenital dysplasia of the hip (CDH). 57
11246461 2000
4
Etiologic factors in congenital displacement of the hip and myelodysplasia. 57
1499231 1992
5
Natural history of congenital hip dislocation (CDH) and hip dysplasia. 57
3315382 1987
6
Congenital dislocation of the hip: a possible inborn error of collagen metabolism. 57
6429438 1984
7
Altered connective tissue in children with congenital dislocation of the hip. 57
1008597 1976
8
A family study of neonatal and late-diagnosis congenital dislocation of the hip. 57
5501696 1970
9
HEREDITARY ASPECTS OF HIP DYSPLASIA IN GERMAN SHEPHERD DOGS. 57
14176261 1964
10
Genetic and environmental factors in the etiology of congenital dislocation of the hip. 57
5889015 1964
11
PERSISTENT JOINT LAXITY AND CONGENITAL DISLOCATION OF THE HIP. 57
14126235 1964
12
Environmental influences related to the aetiology of congenital dislocation of the hip. 57
13510578 1958
13
Ossifying myositis in the infant. About a case. 61
32709564 2021
14
Acetabular Coverage Decreases at the End of Skeletal Growth: A 3DCT Study of Healthy Hips. 61
33417387 2021
15
Development of modified Ilizarov hip reconstruction surgery for hip dysfunction treatment in adolescent and young adults. 61
33437641 2021
16
Impact of presence of ossific nucleus on results of closed reduction in treatment of developmental dysplasia of the hip (302 hips). 61
32453121 2021
17
Proposal of a novel predictive radiological method to assess the possibility of closed reduction in late presenting developmental dysplasia of the hip: the femoro-acetabular zones. 61
32496747 2021
18
The presence of the ossific nucleus and its relation to avascular necrosis rates and the number of secondary procedures in late-presenting developmental dysplasia of the hip. 61
32694427 2021
19
Evaluation of Dislocation Risk Factors With Total Hip Arthroplasty in Developmental Hip Dysplasia Patients: A Multivariate Analysis. 61
32943316 2021
20
Long-Term Outcomes of Total Hip Arthroplasty With Transverse Subtrochanteric Shortening Osteotomy and Modular Stem in Crowe IV Developmental Dysplasia. 61
32919844 2021
21
Effect of simulated rehabilitation on hip joint loading during single limb squat in patients with hip dysplasia. 61
33422726 2021
22
Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives. 61
33130340 2021
23
Prior Pelvic Osteotomy Affects the Outcome of Subsequent Total Hip Arthroplasty. 61
32917462 2021
24
Minimum 10 years clinical results of an anatomical short stem with a proximal hydroxyapatite coating. 61
33428474 2021
25
Late Hip Dysplasia After Normal Ultrasound in Breech Babies: Implications on Surveillance Recommendations. 61
33560711 2021
26
Mid-term results of total hip arthroplasty for relapsed osteoarthritis after joint-preserving operations for coxarthritis compared to primary total hip arthroplasty. 61
32840688 2021
27
Part-time Abduction Bracing in Infants With Residual Acetabular Dysplasia: Does Compliance Monitoring Support a Dose-dependent Relationship? 61
33165268 2021
28
Acetabular development and fate of inverted limbus in rabbits: experimental observation from an animal model. 61
33580529 2021
29
Swaddling Practices in an Indian Institution: Are they Hip-Safe? A Survey of Paediatricians, Nurses and Caregivers. 61
33569109 2021
30
Fragility fracture following total hip arthroplasty. 61
33536142 2021
31
Differences in knee joint degeneration between primary hip osteoarthritis and hip osteoarthritis secondary to hip developmental dysplasia: A propensity score-based analysis. 61
33538625 2021
32
Iliopsoas pathology after total hip arthroplasty: a young person's complication. 61
33517735 2021
33
The Acetabular Wall Index Is Associated with Long Term Conversion to THA after PAO. 61
33605631 2021
34
Pediatric orthopedic mythbusters: the truth about flexible flatfeet, tibial and femoral torsion, W-sitting, and idiopathic toe-walking. 61
33315688 2021
35
Does Cup Position at the High Hip Center or Anatomic Hip Center in THA for Developmental Dysplasia of the Hip Result in Better Harris Hip Scores and Revision Incidence? A Systematic Review. 61
33539054 2021
36
Developmental dysplasia of the hip: can contrast-enhanced MRI predict the development of avascular necrosis following surgery? 61
32772128 2021
37
Postoperative analgesic effects of the quadratus lumborum block III and transversalis fascia plane block in paediatric patients with developmental dysplasia of the hip undergoing open reduction surgeries: a double-blinded randomised controlled trial. 61
33542037 2021
38
Secondary Surgery and Residual Dysplasia Following Late Closed or Open Reduction of Developmental Dysplasia of the Hip. 61
33252590 2021
39
CORR Insights®: Does Cup Position at the High Hip Center or Anatomic Hip Center in THA for Developmental Dysplasia of the Hip Result in Better Harris Hip Scores and Revision Incidence? A Systematic Review. 61
33534259 2021
40
Dynamic and Static Splinting for Treatment of Developmental Dysplasia of the Hip: A Systematic Review. 61
33557053 2021
41
Simultaneous open reduction and Z-shaped modified Salter osteotomy for developmental dysplasia of the hip: A report of two cases. 61
33558101 2021
42
The path to minimizing instability in developmental dysplasia of the hip: is Capsulorrhaphy a necessity or a futile habit? 61
33596895 2021
43
Developmental Dysplasia of the Hip: An Examination of Care Practices of Orthopaedic Surgeons in India. 61
33569110 2021
44
Mid-term results of short-stem total hip arthroplasty in patients with Crowe type I and II developmental dysplasia of the hip. 61
32875473 2021
45
The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip. 61
33569111 2021
46
A New Rectus and Sartorius Sparing Approach for Periacetabular Osteotomy in Patients with Developmental Dysplasia of the Hip. 61
33562732 2021
47
A Comparative Study of Clinical and Radiological Outcomes of Open Reduction Using the Anterior and Medial Approaches for the Management of Developmental Dysplasia of the Hip. 61
33569107 2021
48
Exploring the Lived Experience of Parenting a Child with Developmental Dysplasia of the Hip. 61
33557686 2021
49
Comparison of Iliac and Femoral Autograft Practices in Pemberton Pelvic Osteotomy. 61
32804869 2021
50
Radiographic factors to predict operation time of direct anterior total hip arthroplasty for dysplastic hips. 61
31496293 2021
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Variations for Developmental Dysplasia of the Hip 1

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ClinVar genetic disease variations for Developmental Dysplasia of the Hip 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL6A2 NM_001849.4(COL6A2):c.1970-9G>A SNV Pathogenic 265506 rs747900252 21:47545690-47545690 21:46125776-46125776
2 COL2A1 NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp) SNV Likely pathogenic 374114 rs1057518908 12:48377895-48377895 12:47984112-47984112
3 COL5A1 NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val) SNV Likely pathogenic 523328 rs1554781700 9:137593133-137593133 9:134701287-134701287
4 RYR1 NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) SNV Uncertain significance 93252 rs150396398 19:39057626-39057626 19:38566986-38566986
5 RYR1 NM_000540.2(RYR1):c.14713C>A (p.Pro4905Thr) SNV Uncertain significance 374142 rs1057518924 19:39075649-39075649 19:38585009-38585009
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Expression for Developmental Dysplasia of the Hip 1

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Search GEO for disease gene expression data for Developmental Dysplasia of the Hip 1.
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Pathways for Developmental Dysplasia of the Hip 1

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Pathways related to Developmental Dysplasia of the Hip 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 63
Show member pathways
 12.44 COL6A2 COL5A1 COL2A1
2
Focal Adhesion 36 1
Show member pathways
 12.27 COL6A2 COL5A1 COL2A1
3
Collagen chain trimerization 65
Show member pathways
 12.06 COL6A2 COL5A1 COL2A1
4
Degradation of the extracellular matrix 65
Show member pathways
 11.79 COL6A2 COL5A1 COL2A1
5
ECM-receptor interaction 36
Show member pathways
 11.6 COL6A2 COL2A1
6
G-protein signaling_Rap2B regulation pathway 23
10.34 COL6A2 COL5A1 COL2A1
7
miRNA targets in ECM and membrane receptors 1
10.26 COL6A2 COL5A1
Sources

GO Terms for Developmental Dysplasia of the Hip 1

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Cellular components related to Developmental Dysplasia of the Hip 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.43 COL6A2 COL5A1 COL2A1
2 endoplasmic reticulum lumen GO:0005788 9.33 COL6A2 COL5A1 COL2A1
3 basement membrane GO:0005604 9.32 COL5A1 COL2A1
4 extracellular matrix GO:0031012 9.13 COL6A2 COL5A1 COL2A1
5 collagen trimer GO:0005581 8.8 COL6A2 COL5A1 COL2A1

Biological processes related to Developmental Dysplasia of the Hip 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart morphogenesis GO:0003007 9.16 COL5A1 COL2A1
2 collagen fibril organization GO:0030199 8.96 COL5A1 COL2A1
3 extracellular matrix organization GO:0030198 8.8 COL6A2 COL5A1 COL2A1

Molecular functions related to Developmental Dysplasia of the Hip 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.26 COL5A1 COL2A1
2 proteoglycan binding GO:0043394 9.16 COL5A1 COL2A1
3 platelet-derived growth factor binding GO:0048407 8.96 COL5A1 COL2A1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL6A2 COL5A1 COL2A1
Sources

Sources for Developmental Dysplasia of the Hip 1

About this section
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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