SMDS
MCID: SPN362
MIFTS: 41

Spondylometaphyseal Dysplasia, Sedaghatian Type (SMDS)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spondylometaphyseal Dysplasia, Sedaghatian Type

MalaCards integrated aliases for Spondylometaphyseal Dysplasia, Sedaghatian Type:

Name: Spondylometaphyseal Dysplasia, Sedaghatian Type 56 58 73 36 29 6 71
Sedaghatian Chondrodysplasia 56 73
Smds 56 73
Metaphyseal Chondrodysplasia, Congenital Lethal 56
Spondylometaphyseal Dysplasia Sedaghatian Type 52
Congenital Lethal Metaphyseal Chondrodysplasia 73
Lethal Metaphyseal Dysplasia 52

Characteristics:

Orphanet epidemiological data:

58
spondylometaphyseal dysplasia, sedaghatian type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in perinatal period


HPO:

31
spondylometaphyseal dysplasia, sedaghatian type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondylometaphyseal Dysplasia, Sedaghatian Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93317 Definition Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. Epidemiology Nine cases have been reported so far in patients of Iranian, Yemeni and Caucasian origin. Clinical description A lacy appearance of the iliac crests, long fibulae, abnormal tarsal bones, cardiac arrhythmia, and intracranial anomalies have been described. Intrauterine growth is normal. The majority of patients die in the first days of life with symptoms of cardiorespiratory insufficiency. Subacute myocarditis, cortical necrosis of kidneys, adrenal and pulmonary hemorrhage, absence of the corpus callosum and marked frontotemporal pachygyria have been found at autopsy. Etiology Etiology remains unknown. Genetic counseling Autosomal recessive inheritance has been suggested. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondylometaphyseal Dysplasia, Sedaghatian Type, also known as sedaghatian chondrodysplasia, is related to spondylometaphyseal dysplasia, kozlowski type and spondylometaphyseal dysplasia with cone-rod dystrophy. An important gene associated with Spondylometaphyseal Dysplasia, Sedaghatian Type is GPX4 (Glutathione Peroxidase 4). The drugs Uric acid and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are delayed skeletal maturation and atrioventricular block

OMIM : 56 Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014). (250220)

KEGG : 36 Sedaghatian type spondylometaphyseal dysplasia (SMDS) is a rare type of lethal congenital severe spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary haemorrhage. Most of the patients had been reported to have a short life span, and died shortly after birth due to respiratory failure. Half of infants with SMDS are reported to have central nervous system (CNS) malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia. It has been reported that recessive truncating mutations in the GPX4 gene are the cause of SMDS.

UniProtKB/Swiss-Prot : 73 Spondylometaphyseal dysplasia, Sedaghatian type: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities.

Related Diseases for Spondylometaphyseal Dysplasia, Sedaghatian Type

Diseases related to Spondylometaphyseal Dysplasia, Sedaghatian Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 spondylometaphyseal dysplasia, kozlowski type 12.2
2 spondylometaphyseal dysplasia with cone-rod dystrophy 12.1
3 spondylometaphyseal dysplasia, axial 11.8
4 spondylometaphyseal dysplasia, corner fracture type 11.7
5 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 11.7
6 opsismodysplasia 11.6
7 stereotypic movement disorder 11.4
8 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism 11.3
9 polycythemia vera 11.2
10 spondyloepimetaphyseal dysplasia, strudwick type 10.7
11 cardiac arrhythmia 10.5
12 autosomal recessive disease 10.4
13 myocarditis 10.4
14 isolated oxycephaly 10.4
15 coxa vara 10.3
16 systemic lupus erythematosus 10.2
17 myelodysplastic syndrome 10.2
18 salmonellosis 10.2
19 microphthalmia 10.2
20 attention deficit-hyperactivity disorder 10.1
21 shwachman-diamond syndrome 1 10.1
22 leukemia, acute myeloid 10.1
23 apraxia 10.1
24 neonatal respiratory failure 10.1
25 respiratory failure 10.1
26 neutropenia 10.1
27 exocrine pancreatic insufficiency 10.1
28 speech disorder 10.1
29 childhood apraxia of speech 10.1
30 autoimmune disease 10.0
31 tetralogy of fallot 10.0
32 lymphoma, hodgkin, classic 10.0
33 retinitis pigmentosa 10.0
34 sjogren syndrome 10.0
35 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.0
36 ataxia and polyneuropathy, adult-onset 10.0
37 macular degeneration, age-related, 1 10.0
38 lymphoma, non-hodgkin, familial 10.0
39 coronary heart disease 1 10.0
40 aplastic anemia 10.0
41 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
42 spondylometaphyseal dysplasia, east african type 10.0
43 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
44 alacrima, achalasia, and mental retardation syndrome 10.0
45 helix syndrome 10.0
46 deficiency anemia 10.0
47 pulmonary hypertension 10.0
48 hypomyelinating leukodystrophy 10.0
49 metaphyseal dysplasia 10.0
50 neuroretinitis 10.0

Graphical network of the top 20 diseases related to Spondylometaphyseal Dysplasia, Sedaghatian Type:



Diseases related to Spondylometaphyseal Dysplasia, Sedaghatian Type

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Sedaghatian Type

Human phenotypes related to Spondylometaphyseal Dysplasia, Sedaghatian Type:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 atrioventricular block 58 31 hallmark (90%) Very frequent (99-80%) HP:0001678
3 arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011675
4 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
5 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
6 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
7 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
8 long fibula 58 31 hallmark (90%) Very frequent (99-80%) HP:0003085
9 abnormality of the scapula 58 31 hallmark (90%) Very frequent (99-80%) HP:0000782
10 metaphyseal chondrodysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005871
11 spondylometaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002657
12 rhizomelic arm shortening 58 31 hallmark (90%) Very frequent (99-80%) HP:0004991
13 cardiorespiratory arrest 58 31 hallmark (90%) Very frequent (99-80%) HP:0006543
14 iliac crest serration 58 31 hallmark (90%) Very frequent (99-80%) HP:0008786
15 turricephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000262
16 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
17 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
18 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
19 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
20 myocarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012819
21 accelerated skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005616
22 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
23 cone-shaped epiphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010579
24 depressed nasal bridge 31 HP:0005280
25 short neck 31 HP:0000470
26 atrial septal defect 31 HP:0001631
27 short toe 31 HP:0001831
28 respiratory insufficiency 58 Frequent (79-30%)
29 talipes equinovarus 31 HP:0001762
30 brachydactyly 31 HP:0001156
31 redundant skin 31 HP:0001582
32 short finger 31 HP:0009381
33 disproportionate short stature 58 Very frequent (99-80%)
34 posteriorly rotated ears 31 HP:0000358
35 rhizomelia 31 HP:0008905
36 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
37 short phalanx of finger 31 HP:0009803
38 large posterior fontanelle 31 HP:0004491
39 11 pairs of ribs 31 HP:0000878
40 short long bone 31 HP:0003026
41 flared iliac wings 31 HP:0002869
42 cone-shaped metacarpal epiphyses 31 HP:0006059
43 short ribs 31 HP:0000773
44 flat acetabular roof 31 HP:0003180
45 metaphyseal cupping 31 HP:0003021
46 metaphyseal irregularity 31 HP:0003025
47 cupped ribs 31 HP:0000887
48 delayed epiphyseal ossification 31 HP:0002663
49 porencephalic cyst 31 HP:0002132
50 narrow greater sciatic notch 31 HP:0003375

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
flat nasal bridge

Cardiovascular Heart:
atrial septal defect
cardiac arrhythmia
subacute myocarditis

Skeletal Feet:
brachydactyly
irregular tarsal bones
clubfeet

Head And Neck Head:
turricephaly
large posterior fontanel

Neurologic Central Nervous System:
porencephaly
focal lissencephaly
hypotonia

Skeletal Pelvis:
flared iliac wings
horizontal acetabular roof
small sacrosciatic notches
irregular lacy iliac crest
medial and lateral spur
more
Skeletal:
spondylometaphyseal dysplasia

Growth Height:
short stature, disproportionate

Skeletal Skull:
disproportionately small occipital bone

Head And Neck Neck:
short neck

Skeletal Hands:
brachydactyly
short metacarpals
short phalanges
phalangeal cone-shaped epiphyses
metacarpal cone-shaped epiphyses

Skeletal Spine:
platyspondyly

Head And Neck Ears:
posteriorly rotated ears

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs
short ribs
cupped ribs
irregular scapulae

Skeletal Limbs:
metaphyseal cupping
delayed epiphyseal ossification
irregular metaphyses
short long bones (rhizomelic shortening)
disproportionately long fibulae

Growth Weight:
normal birth weight

Chest External Features:
small, narrow chest

Skin Nails Hair Skin:
redundant skin folds

Clinical features from OMIM:

250220

Drugs & Therapeutics for Spondylometaphyseal Dysplasia, Sedaghatian Type

Drugs for Spondylometaphyseal Dysplasia, Sedaghatian Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Uric acid Investigational 69-93-2 1175
2 Insulin, Globin Zinc
3 Liver Extracts
4 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Task Sharing for the Care of Severe Mental Disorders in a Low-income Country: a Randomised, Controlled Non-inferiority Trial Completed NCT02308956 Phase 3
2 Effect of Fructose on Metabolic Control in Humans: A Series of Systematic Reviews and Meta-analyses to Provide Evidence-based Guidance for Nutrition Guidelines Development Unknown status NCT01363791
3 Effect of Fructose-containing Sugar Sweetened Beverages (SSBs) on Body Weight: A Systematic Review and Meta-analysis of Controlled Feeding Trials to Provide Evidence-based Guidance for Nutrition Guidelines Development Unknown status NCT01608607
4 "Sufficiency, Accuracy, Clarity, Contextualization, and Interpersonal Adaptation - Safe, Digitally Supported Communication in Gynecology and Obstetrics: TeamBaby" Recruiting NCT03855735

Search NIH Clinical Center for Spondylometaphyseal Dysplasia, Sedaghatian Type

Genetic Tests for Spondylometaphyseal Dysplasia, Sedaghatian Type

Genetic tests related to Spondylometaphyseal Dysplasia, Sedaghatian Type:

# Genetic test Affiliating Genes
1 Spondylometaphyseal Dysplasia, Sedaghatian Type 29 GPX4

Anatomical Context for Spondylometaphyseal Dysplasia, Sedaghatian Type

MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, Sedaghatian Type:

40
Bone, Heart, Kidney, Liver, Skin, Brain, Breast

Publications for Spondylometaphyseal Dysplasia, Sedaghatian Type

Articles related to Spondylometaphyseal Dysplasia, Sedaghatian Type:

(show top 50) (show all 982)
# Title Authors PMID Year
1
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. 6 56
24706940 2014
2
Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature. 56 6
22529034 2012
3
Spondylometaphyseal dysplasia: Sedaghatian type. 56 61
10678656 2000
4
Spondylometaphyseal dysplasia-Sedaghatian type. 56 61
9556300 1998
5
Spondylometaphyseal dysplasia, Sedaghatian type. 56 61
1481828 1992
6
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. 56
16892303 2006
7
Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies. 56
3565474 1987
8
Congenital lethal metaphyseal chondrodysplasia: a newly recognized complex autosomal recessive disorder. 56
7211944 1980
9
The Relationship between High Iodine Consumption and Levels of Autoimmune Thyroiditis-Related Biomarkers in a Chinese Population: a Meta-Analysis. 61
31713113 2020
10
Comparative efficacy and acceptability of antidepressants, psychotherapies, and their combination for acute treatment of children and adolescents with depressive disorder: a systematic review and network meta-analysis. 61
32563306 2020
11
Evidence on the effect of uncontrolled diabetes mellitus on orthodontic tooth movement. A systematic review with meta-analyses in pre-clinical in- vivo research. 61
32422362 2020
12
Vitamin D status in endometriosis: a systematic review and meta-analysis. 61
32430755 2020
13
Effects of Sodium Bicarbonate Supplementation on Muscular Strength and Endurance: A Systematic Review and Meta-analysis. 61
32096113 2020
14
Hospitalising preterm infants in single family rooms versus open bay units: A systematic review and meta-analysis of impact on parents. 61
32548575 2020
15
Efficacy of cognitive bias modification interventions in anxiety and depressive disorders: a systematic review and network meta-analysis. 61
32445689 2020
16
Laser photobiomodulation for cartilage defect in animal models of knee osteoarthritis: a systematic review and meta-analysis. 61
31845042 2020
17
Effectiveness of Weight-Loss Interventions for Reducing Pain and Disability in People With Common Musculoskeletal Disorders: A Systematic Review With Meta-Analysis. 61
32272032 2020
18
The clinical efficacy of kinesio taping in shoulder disorders: a systematic review and meta analysis. 61
32397751 2020
19
Exercise for premenstrual syndrome: a systematic review and meta-analysis of randomised controlled trials. 61
32522750 2020
20
Confined Growth and Controlled Coalescence/Self-Removal of Condensate Microdrops on a Spatially Heterogeneously Patterned Superhydrophilic-Superhydrophobic Surface. 61
32510195 2020
21
Comparing central pain processing in individuals with non-traumatic neck pain and healthy individuals: a systematic review and meta-analysis. 61
32574788 2020
22
PK, PD and interactions: the new scenario with JAK inhibitors and S1P Receptor Modulators, two classes of small molecule drugs, in IBD. 61
32571107 2020
23
Digital technology for management of severe mental disorders in low-income and middle-income countries. 61
32520747 2020
24
Small molecule drugs in the treatment of inflammatory bowel diseases: which one, when and why? - a systematic review. 61
32282548 2020
25
The treatment efficacy of adding prokinetics to PPIs for gastroesophageal reflux disease: a meta-analysis. 61
32519226 2020
26
Is aerobic exercise helpful in patients with migraine? A systematic review and meta-analysis. 61
31904889 2020
27
Effects of Acute cardiovascular exercise on motor Memory Encoding and consolidation: a systematic review with meta-analysis. 61
32565171 2020
28
Magnetic resonance spectroscopy studies in subjects with high risk for psychosis: A meta-analysis and review. 61
32203740 2020
29
The efficacy of rituximab in the treatment of refractory nephrotic syndrome: a meta-analysis. 61
32297182 2020
30
Minocycline for Depressive Symptoms: a Meta-Analysis of Randomized, Double-Blinded, Placebo-Controlled Trials. 61
31965454 2020
31
Changes in fatigue in rectal cancer patients before and after therapy: a systematic review and meta-analysis. 61
32002618 2020
32
A Meta-analysis-Based Assessment of Intense Pulsed Light for Treatment of Melasma. 61
32055937 2020
33
Evaluating Narrative Exposure Therapy for Posttraumatic Stress Disorder and Depression Symptoms: A Meta-Analysis of the Evidence-base. 61
32525597 2020
34
Telephone interventions for symptom management in adults with cancer. 61
32483832 2020
35
The effects of art therapy on anxiety and depression in breast cancer patients: An updated meta-analysis. 61
32452121 2020
36
Outcomes of Randomized Clinical Trials of Interventions to Enhance Social, Emotional, and Spiritual Components of Wisdom: A Systematic Review and Meta-analysis. 61
32401284 2020
37
Analgesic Efficacy of Melatonin: A Meta-Analysis of Randomized, Double-Blind, Placebo-Controlled Trials. 61
32455582 2020
38
Morita therapy for schizophrenia: An updated meta-analysis. 61
32446215 2020
39
Complex and Contrast Training: Does Strength and Power Training Sequence Affect Performance-Based Adaptations in Team Sports? A Systematic Review and Meta-analysis. 61
32084104 2020
40
Association of body mass index on disease activity in axial spondyloarthritis: systematic review and meta-analysis. 61
32434828 2020
41
What are the Benefits and Risks Associated with Changing Foot Strike Pattern During Running? A Systematic Review and Meta-analysis of Injury, Running Economy, and Biomechanics. 61
31823338 2020
42
Neuropsychological features in patients with severe mental disorders and risk of violence: A prospective multicenter study in Italy. 61
32417593 2020
43
Quantitative analysis of bioactive components in walnut leaves by UHPLC-Q-Orbitrap HRMS combined with QAMS. 61
32544651 2020
44
Vascular and metabolic effects of metformin added to insulin therapy in patients with type 1 diabetes: A systematic review and meta-analysis. 61
32390336 2020
45
Hamilton scale and MADRS are interchangeable in meta-analyses but can disagree at trial level. 61
32387423 2020
46
High-dose omega-3 polyunsaturated fatty acid supplementation might be more superior than low-dose for major depressive disorder in early therapy period: a network meta-analysis. 61
32434488 2020
47
Duration of Symptom Relief and Early Trajectory of Adverse Events for Oral Nonsteroidal Antiinflammatory Drugs in Knee Osteoarthritis: A Systematic Review and Meta-Analysis. 61
30908885 2020
48
Prognostic Value of Late Gadolinium Enhancement in Predicting Life-Threatening Arrhythmias in Heart Failure Patients With Implantable Cardioverter-Defibrillators: A Systematic Review and Meta-Analysis. 61
31710415 2020
49
Propofol versus midazolam with or without short-acting opioids for sedation in colonoscopy: a systematic review and meta-analysis of safety, satisfaction, and efficiency outcomes. 61
31926966 2020
50
Do body mass index and waist-to-height ratio over the preceding decade predict retinal microvasculature in 11-12 year olds and midlife adults? 61
32424266 2020

Variations for Spondylometaphyseal Dysplasia, Sedaghatian Type

ClinVar genetic disease variations for Spondylometaphyseal Dysplasia, Sedaghatian Type:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPX4 NM_002085.5(GPX4):c.476+5G>ASNV Pathogenic 140615 rs775146234 19:1105813-1105813 19:1105814-1105814
2 GPX4 NM_002085.5(GPX4):c.477-8_477-4deldeletion Pathogenic 140616 19:1106230-1106234 19:1106231-1106235
3 GPX4 NM_002085.5(GPX4):c.270C>A (p.Tyr90Ter)SNV Pathogenic 140617 rs769967246 19:1105455-1105455 19:1105456-1105456

Expression for Spondylometaphyseal Dysplasia, Sedaghatian Type

Search GEO for disease gene expression data for Spondylometaphyseal Dysplasia, Sedaghatian Type.

Pathways for Spondylometaphyseal Dysplasia, Sedaghatian Type

GO Terms for Spondylometaphyseal Dysplasia, Sedaghatian Type

Sources for Spondylometaphyseal Dysplasia, Sedaghatian Type

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
Content
Loading form....