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DDH1
MCID: DVL012
MIFTS: 38

Developmental Dysplasia of the Hip 1 (DDH1)

Categories: Bone diseases, Rare diseases
Genes Variations Tissues Related diseases Publications 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 56 29 71
Developmental Dysplasia of the Hip 29 6 17
Acetabular Dysplasia 56 13
Hip Dysplasia, Developmental; Ddh 56
Hip Dysplasia, Congenital; Cdh 56
Developmental Dysplasia of Hip 52
Hip Dysplasia, Developmental 56
Congenital Dysplasia of Hip 52
Hip Dysplasia, Congenital 56
Ddh1 56
Ddh 56
Cdh 56

Characteristics:

OMIM:

56
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 56 142700
OMIM Phenotypic Series 56 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 : 56 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)

MalaCards based summary : Developmental Dysplasia of the Hip 1, also known as developmental dysplasia of the hip, is related to diaphragmatic hernia, congenital and craniofacial-deafness-hand syndrome. An important gene associated with Developmental Dysplasia of the Hip 1 is AKR1C1 (Aldo-Keto Reductase Family 1 Member C1). The drugs Tranexamic Acid and Hemostatics have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and skin, 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 128)
# Related Disease Score Top Affiliating Genes
1 diaphragmatic hernia, congenital 12.5
2 craniofacial-deafness-hand syndrome 12.4
3 developmental dysplasia of the hip 2 11.6
4 diaphragmatic hernia 3 11.4
5 avascular necrosis 10.6
6 pulmonary hypertension 10.6
7 clubfoot 10.4
8 fryns syndrome 10.4
9 helix syndrome 10.3
10 torticollis 10.2
11 cerebral palsy 10.2
12 neuromuscular disease 10.2
13 overgrowth syndrome 10.2
14 thrombophilia due to thrombin defect 10.2
15 chromosome 1q41-q42 deletion syndrome 10.2
16 scoliosis 10.2
17 onchocerciasis 10.2
18 papilledema 10.2
19 pneumothorax 10.2
20 lung disease 10.2
21 intracranial hypertension 10.2
22 legg-calve-perthes disease 10.1
23 bone resorption disease 10.1
24 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
25 neural tube defects 10.1
26 alkuraya-kucinskas syndrome 10.1
27 congenital amyoplasia 10.1
28 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
29 sexual disorder 10.1
30 osteonecrosis 10.1
31 osteochondrosis 10.1
32 osteoarthritis 10.1
33 malignant hyperthermia 10.1
34 47,xyy 10.1
35 48,xyyy 10.1
36 hip subluxation 10.1
37 metatarsus adductus 10.1
38 mycobacterium xenopi 10.1
39 chronic pain 10.1
40 inflammatory myopathy with abundant macrophages 10.1
41 quadriplegia 10.1
42 exostosis 10.1
43 chondromalacia 10.1
44 thrombophlebitis 10.1
45 marfan syndrome 10.1
46 protrusio acetabuli 10.1
47 ankylosis 10.1
48 muscular atrophy 10.1
49 specific language disorder 10.1
50 congenital torticollis 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:

56
Skeletal Pelvis:
congenital hip dislocation
positive ortolani sign

Clinical features from OMIM:

142700
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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2 Hemostatics Phase 3
3 Antifibrinolytic Agents Phase 3
4 Coagulants Phase 3
5
Ropivacaine Approved 84057-95-4 71273 175805
6
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
7
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
8
tannic acid Approved 1401-55-4
9
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
10 Pharmaceutical Solutions
11 Anesthetics, Local
12 Anesthetics

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 Efficacy and Satisfaction Comparing Two Braces in the Treatment of DDH in Infants: A Randomized Clinical Trial Completed NCT01375218 Phase 4
2 Use of Tranexamic Acid(TNA) in Preventing Blood Loss During and After Total Hip Arthroplasty Unknown status NCT02587845 Phase 3 Tranexamic Acid (IV);Tranexamic Acid (Topical)
3 Acetabular Labral Tear in Dysplastic Hips Unknown status NCT01345838
4 Universal Ultrasound-screening for Developmental Dysplasia of the Hip. 5-12 Years Followup of 4 200 Newborns Unknown status NCT01053299
5 Three Novel Radiological Indicators for Diagnosis of Adult Acetabular Dysplasia: a Self-controlled, Diagnostic Trial Unknown status NCT03541122
6 Modified Triple Osteotomy for Acetabular Dysplasia - A Modified Technique for Better Femoral Head Medialization and Coverage Unknown status NCT01285154
7 Automatic Characterization of the Neonatal Hip Using Ultrasound Imaging Unknown status NCT02796768
8 Assessment of Hip, Spine and Lower Limbs Digital Radiograph Measurements in Pediatric Population: Using PACS Integrated Computer Software (TraumaCad From OrthoCrat) Unknown status NCT00782223
9 Periacetabular Osteotomy With Versus Without Adjunctive Hip Arthroscopy for Intra-Articular Pathology in Hip Dysplasia: a Prospective Randomized Trial Unknown status NCT02790749
10 Outcome After Arthroscopic Labrum Surgery in Patients Treated With Periacetabular Osteotomy Completed NCT02945995
11 A New Pelvic Osteotomy Method for Open Reduction in the Treatment of Developmental Dysplasia of the Hip in Children Completed NCT04007016
12 Selective Ultrasound Screening for Developmental Hip Dysplasia: Effect on Management and Late Detected Cases. A Prospective Survey During 1991-2006. Completed NCT01866527
13 Comparison of the Inner Side and Two-sided Approaches for Iliac Crest Bone Graft Harvesting for Pediatric Pelvic Osteotomy Completed NCT04425369
14 Ultrasound Screening for Developmental Dysplasia of the Hip in the Neonate: The Effect on Treatment Rate and Prevalence of Late Cases Completed NCT01818934
15 Transmuscular Quadratus Lumborum Block Block for Congenital Hip Dislocation Surgery: Randomized Controlled Study Completed NCT04212832 Bupivacaine
16 Discovering the Gene(s) Causing Developmental Dysplasia of the Hip Completed NCT01193673
17 Incidence of Developmental Hip Dysplasia by Ultrasonographic Screening of Asymptomatic Infants Less Than 6 Months Old at Assiut University Hospital Outpatient Clinics Completed NCT03476915
18 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
19 Immediate Treatment Compared With Active Sonographic Surveillance in the Management of Mild Hip Dysplasia in Newborn Infants: A Randomized, Controlled Trial Completed NCT00843258
20 Predictive Factors for the Development of Osteonecrosis After the Treatment of the Developmental Dislocated Hip. A Comparison of Early Open Reduction Versus Late Open Reduction With Combined Pemberton and Femoral Osteotomies Completed NCT01133938
21 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
22 A Prospective Cohort Study on Targeted Exercise and Changes in Femoroacetabular Impingement in Symptomatic Patients With Acetabular Retroversion (TILT-FAI) Completed NCT03578562
23 Prevalence of Hip Pathomorphology in Collegiate Athletes and Age-Matched Controls: Radiographic and Physical Exam Findings Completed NCT01799200
24 Early Abduction Splintage on Stable Hips in Infants With Developmental Dysplasia of the Hip : Improvement or Overtreatment ? Recruiting NCT02885831
25 Effectiveness of Cotton vs. Waterproof Cast Padding After Application of Hip Spica: A Randomized Controlled Study Recruiting NCT03859232
26 A Non-Inferiority Trial Assessing a Limited Ultrasound Protocol in the Treatment of Developmental Dysplasia of the Hip Recruiting NCT03608475
27 Evaluation of T1rho Magnetic Resonance Imaging for Diagnosis of Cartilage Lesions in Hips With Developmental Dysplasia Recruiting NCT02185365
28 Erector Spinae Plane Block for Congenital Hip Dislocation Surgery: Randomized Controlled Double Blind Study Recruiting NCT03949686 Saline Solution;Bupivacaine
29 Pericapsular Nerve Group (PENG) Block for Congenital Hip Dislocation Surgery: Randomized Controlled Double Blind Study Recruiting NCT04212039 Saline Solution;Bupivacaine
30 A Prospective, International Hip Dysplasia Registry With Follow-up to Skeletal Maturity: An Analysis of Risk Factors, Screening Practices and Treatment Outcomes Recruiting NCT04117685
31 Arthroscopic Labral Repair Versus Physical Therapy for Tears of the Acetabular Labrum in Patients Age 40 and Older Recruiting NCT03909178
32 Normative Radiographic Parameters and Growth Curve of Hips Less Than Six Weeks of Gestational Age Using Ultrasound Recruiting NCT03109444
33 Structural and Functional Sequelae of Developmental Dysplasia of the Hip Active, not recruiting NCT02431871
34 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
35 Hip Reconstruction in Cerebral Palsy With Pelvic Osteotomy Active, not recruiting NCT02372617
36 How Should Stable Graf Type IIc Hips be Treated With Pavlik Harness? Not yet recruiting NCT03275805
37 Evaluation of Aid to Diagnosis for Congenital Dysplasia of the Hip in General Practice: Controlled Randomised Trial Not yet recruiting NCT04101903
38 Evaluation of Closed Reduction for Treatment of Developmental Dysplasia of the Hip in Children Not yet recruiting NCT03193385
39 Periacetabular Osteotomy Versus Arthroscopic Management of Mild Hip Dysplasia: A Randomized Clinical Trial Withdrawn NCT03530878

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

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

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

Publications for Developmental Dysplasia of the Hip 1

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Articles related to Developmental Dysplasia of the Hip 1:

(show top 50) (show all 1964)
# 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. 56 61
23716478 2013
2
Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q. 56
16773577 2006
3
A two-locus model for non-syndromic congenital dysplasia of the hip (CDH). 56
11246461 2000
4
Etiologic factors in congenital displacement of the hip and myelodysplasia. 56
1499231 1992
5
Natural history of congenital hip dislocation (CDH) and hip dysplasia. 56
3315382 1987
6
Congenital dislocation of the hip: a possible inborn error of collagen metabolism. 56
6429438 1984
7
Altered connective tissue in children with congenital dislocation of the hip. 56
1008597 1976
8
A family study of neonatal and late-diagnosis congenital dislocation of the hip. 56
5501696 1970
9
HEREDITARY ASPECTS OF HIP DYSPLASIA IN GERMAN SHEPHERD DOGS. 56
14176261 1964
10
Genetic and environmental factors in the etiology of congenital dislocation of the hip. 56
5889015 1964
11
PERSISTENT JOINT LAXITY AND CONGENITAL DISLOCATION OF THE HIP. 56
14126235 1964
12
Environmental influences related to the aetiology of congenital dislocation of the hip. 56
13510578 1958
13
Effect of patient-specific instrument on lowering threshold for junior physicians to perform total hip arthroplasty on developmental dysplasia of the hip patients. 61
32405884 2020
14
Does Adductor Tenotomy Need During Closed Reduction Have a Prognostic Value in the Treatment of Developmental Dysplasia of the Hip Between 6 and 12 Months of Age? "Adductor Tenotomy in the Treatment of Developmental Dysplasia''. 61
32549964 2020
15
Prevalence of Hip Ultrasound Abnormalities in Newborns With a Hip Click. 61
32390464 2020
16
Coronal Flexion Versus Coronal Neutral Sonographic Views in Infantile DDH: An Important Source of Variability. 61
32501912 2020
17
An Analysis of the Potential Relationship between Crowe Type and Lower Extremity Morphology in Patients with Developmental Dysplasia of the Hip. 61
32566539 2020
18
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 2020
19
Direct Anterior Approach in Crowe Type III-IV Developmental Dysplasia of the Hip: Surgical Technique and 2 years Follow-up from Southwest China. 61
32510863 2020
20
Leg Length Balance in Total Hip Arthroplasty for Patients with Unilateral Crowe Type IV Developmental Dysplasia of the Hip. 61
32237068 2020
21
Genetics of developmental dysplasia of the hip. 61
32540376 2020
22
Using 3-dimensional ultrasound islice technology for the diagnosis of developmental dysplasia of the hip. 61
31814148 2020
23
Patient-Friendly Summary of the ACR Appropriateness Criteria: Developmental Dysplasia of the Hip-Child. 61
32307335 2020
24
Tübingen hip flexion splints for developmental dysplasia of the hip in infants aged 0-6 months. 61
32503452 2020
25
Arthroscopy and Borderline Developmental Dysplasia of the Hip: A Systematic Review. 61
32505709 2020
26
Does THA Affect Sexual Dysfunction in Female Patients With DDH? 61
32057603 2020
27
Three-dimensional femoral morphology in Hartofilakidis type C developmental dysplastic hips and the implications for total hip arthroplasty. 61
32556383 2020
28
Even Experts Can Be Fooled: Reliability of Clinical Examination for Diagnosing Hip Dislocations in Newborns. 61
32555048 2020
29
Inflammatory Response of Articular Cartilage to Femoroacetabular Impingement in the Hip. 61
32383968 2020
30
[Effectiveness of proximal femur reconstruction combined with total hip arthroplasty for Crowe type Ⅳ developmental dysplasia of hip]. 61
32538556 2020
31
Risk factors for failed closed reduction in dislocated developmental dysplastic hips. 61
32488566 2020
32
The neoacetabulum in developmental dysplasia of the hip is covered with hyaline cartilage. 61
32442678 2020
33
Treatment of developmental dysplasia of the hip (DDH) between the age of 18 and 24 months. 61
31865456 2020
34
Citation analysis of the highest-cited articles on developmental dysplasia of the hip. 61
31923135 2020
35
Evolution of concentricity after closed reduction in developmental dysplasia of the hip. 61
32349601 2020
36
Biomechanical investigation of pelvic stability in developmental dysplasia of the hip: unilateral salter osteotomy versus one-stage bilateral salter osteotomy. 61
32393353 2020
37
Is it necessary to perform hip arthrography before incision in developmental dysplasia of the hip? Response to: Arthrography of the hip should be performed before incision in developmental dysplasia of the hip. J Pediatr Orthop B 2019; 28: 415. 61
31361707 2020
38
Should I Plan to Open? Predicting the Need for Open Reduction in the Treatment of Developmental Dysplasia of the Hip. 61
31385896 2020
39
Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population. 61
32396528 2020
40
Chondrocyte suppression is mediated by miR-129-5p via GDF11/SMAD3 signaling in developmental dysplasia of the hip. 61
32396235 2020
41
Anterior approach with mini-bikini incision in open reduction in infants with developmental dysplasia of the hip. 61
32434526 2020
42
Different subchondral trabecular bone microstructure and biomechanical properties between developmental dysplasia of the hip and primary osteoarthritis. 61
32440499 2020
43
Simultaneous bilateral single-stage combined open reduction and pelvic osteotomy for the treatment of developmental dysplasia of the hip. 61
31895292 2020
44
Impact of presence of ossific nucleus on results of closed reduction in treatment of developmental dysplasia of the hip (302 hips). 61
32453121 2020
45
Discrepancy between ultrasonographic and radiographic findings in patients treated for developmental dysplasia of the hip; hip maturation on ultrasonography may not be consistent with radiographic hip maturation. 61
31305360 2020
46
Which Acetabular Landmarks are the Most Useful for Measuring the Acetabular Index and Center-edge Angle in Developmental Dysplasia of the Hip? A Comparison of Two Methods. 61
32379138 2020
47
Correction of the acetabular index is more crucial than the type of acetabuloplasty in developmental dysplasia. 61
31894353 2020
48
The Painful Hip in Young Adults Between Impingement and Mild Dysplasia: Clinical and Instrumental Diagnostical Criteria. 61
32555072 2020
49
Ultrasound Evaluation of Pediatric Orthopaedic Patients. 61
32482983 2020
50
[Revision reasons and prosthesis selection of Crowe Ⅳ developmental dysplasia of hip after total hip arthroplasty]. 61
32410420 2020
Sources

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 COL5A1 NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val)SNV Likely pathogenic 523328 rs1554781700 9:137593133-137593133 9:134701287-134701287
2 RYR1 NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)SNV Conflicting interpretations of pathogenicity 93252 rs150396398 19:39057626-39057626 19:38566986-38566986
3 COL6A2 NM_001849.4(COL6A2):c.1970-9G>ASNV Conflicting interpretations of pathogenicity 265506 rs747900252 21:47545690-47545690 21:46125776-46125776
4 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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GO Terms for Developmental Dysplasia of the Hip 1

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Sources for Developmental Dysplasia of the Hip 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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