MCID: HYP035
MIFTS: 58

Hypophosphatasia

Categories: Rare diseases, Oral diseases, Genetic diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Hypophosphatasia

MalaCards integrated aliases for Hypophosphatasia:

Name: Hypophosphatasia 12 72 23 49 24 55 36 28 51 41 14 69
Phosphoethanolaminuria 49 24 55
Deficiency of Alkaline Phosphatase 12 24
Childhood Hypophosphatasia 12 69
Rathburn Disease 49 55
Deficiency of Alkaline Phosphatase [ambiguous] 12
Hypophosphatasia, Childhood 41
Infantile Hypophosphatasia 69
Hypophospatasia, Childhood 12
Phosphoethanol-Aminuria 49
Hypophosphatasia Mild 49
Hpp 55

Characteristics:

Orphanet epidemiological data:

55
hypophosphatasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (France),1-9/1000000 (United Kingdom),1-9/1000000 (Ireland),1-9/1000000 (Japan); Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:14213
ICD10 32 E83.39
NCIt 46 C26798
Orphanet 55 ORPHA436
MESH via Orphanet 42 D007014
UMLS via Orphanet 70 C0020630
ICD10 via Orphanet 33 E83.3
KEGG 36 H00213

Summaries for Hypophosphatasia

NIH Rare Diseases : 49 Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner. While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP and has been approved by the FDA. Last updated: 2/1/2016

MalaCards based summary : Hypophosphatasia, also known as phosphoethanolaminuria, is related to hypophosphatasia, childhood and hypophosphatasia, infantile, and has symptoms including abnormality of the dentition, large fontanelles and irritability. An important gene associated with Hypophosphatasia is ALPL (Alkaline Phosphatase, Liver/Bone/Kidney), and among its related pathways/superpathways are Folate biosynthesis and NAD metabolism. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are digestive/alimentary and growth/size/body region

Genetics Home Reference : 24 Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigid and teeth that can withstand chewing and grinding.

Wikipedia : 72 Hypophosphatasia (also called deficiency of alkaline phosphatase or phosphoethanolaminuria) is a rare,... more...

GeneReviews: NBK1150

Related Diseases for Hypophosphatasia

Diseases in the Hypophosphatasia family:

Hypophosphatasia, Adult Hypophosphatasia, Infantile

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 hypophosphatasia, childhood 34.1 ALPL SPTA1
2 hypophosphatasia, infantile 33.7 ALPL ALPP SPTA1
3 hypophosphatasia, adult 33.6 ALPL ENPP1 SPTA1
4 chondrocalcinosis 29.8 ALPL ENPP1
5 osteomalacia 29.5 ALPL PHEX
6 hypophosphatemia 28.9 DSPP ENPP1 PHEX
7 prenatal benign hypophosphatasia 11.9
8 pyropoikilocytosis, hereditary 11.7
9 atelosteogenesis, type i 10.9
10 boomerang dysplasia 10.9
11 dentin dysplasia, type i 10.9
12 tick infestation 10.3 ALPL ALPP
13 testis seminoma 10.3 ALPL ALPP
14 ossification of the posterior longitudinal ligament of spine 10.2 ENPP1 RUNX2
15 autosomal recessive hypophosphatemic rickets 10.2 ENPP1 PHEX
16 arterial calcification of infancy 10.1 ENPP1 PHEX
17 periodontitis 10.1
18 hypophosphatemic rickets with hypercalciuria, hereditary 10.1 ENPP1 PHEX
19 osseous heteroplasia, progressive 10.0 ALPP ENPP1 RUNX2
20 hypercalcemia, infantile, 1 10.0
21 craniosynostosis 10.0
22 bone remodeling disease 10.0 PHEX RUNX2
23 rickets 10.0 ALPL ENPP1 PHEX
24 saethre-chotzen syndrome 10.0 ALPP RUNX2
25 dentin caries 9.9 ALPP DSPP
26 angel-shaped phalangoepiphyseal dysplasia 9.9
27 cleidocranial dysplasia 9.9
28 intracranial hypertension, idiopathic 9.9
29 aging 9.9
30 brittle bone disorder 9.9
31 pustulosis of palm and sole 9.9
32 pancreatitis 9.9
33 psoriasis 9.9
34 teeth, supernumerary 9.9 DSPP RUNX2
35 ankylosis 9.9 PLCB4 RUNX2
36 hypercementosis 9.9 DSPP ENPP1
37 episodic pain syndrome, familial, 1 9.8
38 cohen-gibson syndrome 9.8
39 osteomyelitis 9.8
40 renal osteodystrophy 9.8
41 hyperparathyroidism 9.8
42 periarthritis 9.8
43 periodontal disease 9.8
44 arthropathy 9.8
45 myopathy 9.8
46 root resorption 9.8 DSPP RUNX2
47 calcinosis 9.7 ENPP1 PHEX
48 cleft palate, isolated 9.7
49 hypercalciuria, absorptive, 2 9.7
50 hypochondroplasia 9.7

Graphical network of the top 20 diseases related to Hypophosphatasia:



Diseases related to Hypophosphatasia

Symptoms & Phenotypes for Hypophosphatasia

Human phenotypes related to Hypophosphatasia:

55 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 55 31 hallmark (90%) Very frequent (99-80%) HP:0000164
2 large fontanelles 55 31 hallmark (90%) Very frequent (99-80%) HP:0000239
3 irritability 55 31 frequent (33%) Frequent (79-30%) HP:0000737
4 abnormality of the ribs 55 31 hallmark (90%) Very frequent (99-80%) HP:0000772
5 narrow chest 55 31 hallmark (90%) Very frequent (99-80%) HP:0000774
6 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 skin dimple over apex of long bone angulation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001024
8 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
9 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
10 craniosynostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001363
11 failure to thrive in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001531
12 anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001903
13 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
14 emphysema 55 31 hallmark (90%) Very frequent (99-80%) HP:0002097
15 recurrent fractures 55 31 frequent (33%) Frequent (79-30%) HP:0002757
16 hypercalcemia 55 31 frequent (33%) Frequent (79-30%) HP:0003072
17 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
18 bowing of the long bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0006487
19 feeding difficulties in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008872
20 skin dimples 55 Very frequent (99-80%)

UMLS symptoms related to Hypophosphatasia:


vomiting, seizures, fever of unknown origin, constipation, apnea, waddling gait

MGI Mouse Phenotypes related to Hypophosphatasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.55 ALPL PHEX PLCG1 RUNX2 SPTA1
2 growth/size/body region MP:0005378 9.5 ALPL ENPP1 PHEX PLCB4 PLCG1 RUNX2
3 skeleton MP:0005390 9.1 ALPL ENPP1 PHEX PLCB4 RUNX2 SPTA1

Drugs & Therapeutics for Hypophosphatasia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
2 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(show all 24)

# Name Status NCT ID Phase Drugs
1 Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Completed NCT02531867 Phase 4
2 Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) Completed NCT01176266 Phase 2, Phase 3 asfotase alfa
3 Safety and Efficacy of Asfotase Alfa in Patients With Hypophosphatasia (HPP) Completed NCT02456038 Phase 2 Asfotase Alfa (ALXN1215)
4 Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP) Completed NCT01163149 Phase 2 asfotase alfa;asfotase alfa
5 Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP) Completed NCT01205152 Phase 2
6 Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP) Completed NCT01406977 Phase 2 BPS804
7 Pharmacokinetic, and Dose Response Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia (HPP) Completed NCT02797821 Phase 2 Asfotase alfa
8 Extension Study of Protocol ENB-006-09 - Study of Asfotase Alfa in Children With Hypophosphatasia (HPP) Completed NCT01203826 Phase 2
9 Safety and Efficacy of Asfotase Alfa in Juvenile Patients With Hypophosphatasia (HPP) Completed NCT00952484 Phase 2
10 Safety and Efficacy Study of Asfotase Alfa in Severely Affected Infants With Hypophosphatasia (HPP) Completed NCT00744042 Phase 1, Phase 2
11 Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP) Withdrawn NCT00894075 Phase 2
12 Safety Study of Human Recombinant Tissue Non-Specific Alkaline Phosphatase Fusion Protein Asfotase Alfa in Adults With Hypophosphatasia (HPP) Completed NCT00739505 Phase 1
13 Expanded Access Program for Asfotase Alfa Treatment for Patients With Infantile- or Juvenile-onset Hypophosphatasia (HPP) Approved for marketing NCT02496689
14 A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP) Completed NCT01419028
15 Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP) Completed NCT02104219
16 Burden of Disease in Hypophosphatasia (HPP) Completed NCT02291497
17 Non-interventional Substudy of ALX-HPP-502 to Assess Natural History of Patients With Juvenile-onset HPP Who Served as Historical Controls in ENB-006-09 Completed NCT02235493
18 Health Burden of Hypophosphatasia Recruiting NCT02751801
19 Natural History Study of Patients With Hypophosphatasia (HPP) Recruiting NCT02237625
20 Biomarker for Hypophosphatasia Disease Recruiting NCT02603042
21 Characterisation of Adult-Onset Hypophosphatasia Recruiting NCT02796885
22 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP) Enrolling by invitation NCT02306720
24 Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia Not yet recruiting NCT03418389

Search NIH Clinical Center for Hypophosphatasia

Cochrane evidence based reviews: hypophosphatasia

Genetic Tests for Hypophosphatasia

Genetic tests related to Hypophosphatasia:

# Genetic test Affiliating Genes
1 Hypophosphatasia 28 ALPL

Anatomical Context for Hypophosphatasia

MalaCards organs/tissues related to Hypophosphatasia:

38
Bone, Skin, Liver, Bone Marrow, Kidney, Testes, Neutrophil

Publications for Hypophosphatasia

Articles related to Hypophosphatasia:

(show top 50) (show all 556)
# Title Authors Year
1
Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology. ( 29360619 )
2018
2
Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale. ( 29297597 )
2018
3
Hypophosphatasia: oral cavity and dental disorders. ( 29405938 )
2017
4
Atypical femur fractures: a distinctive tract of adult hypophosphatasia. ( 29354161 )
2017
5
Hypophosphatasia: clinical manifestation and burden of disease in adult patients. ( 29263739 )
2017
6
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases. ( 28663156 )
2017
7
Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial. ( 28374482 )
2017
8
Renal impairment in hypophosphatasia. ( 29405941 )
2017
9
Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report. ( 28802630 )
2017
10
Hypophosphatasia: the contribution of imaging. ( 29405937 )
2017
11
Hypophosphatasia in Adults: Clinical Assessment and Treatment Considerations. ( 28731215 )
2017
12
Craniosynostosis and hypophosphatasia. ( 29405940 )
2017
13
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia. ( 27777120 )
2017
14
Neuromuscular features of hypophosphatasia. ( 29405939 )
2017
15
Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges. ( 28084648 )
2017
16
Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia. ( 28436937 )
2017
17
Genetics of hypophosphatasia. ( 29405932 )
2017
18
Adult-onset hypophosphatasia diagnosed following bilateral atypical femoral fractures in a 55-year-old woman. ( 29354166 )
2017
19
Hypophosphatasia in children and adolescents: clinical features and treatment. ( 29405935 )
2017
20
Hypophosphatasia: the patient's and patient's family's point of view. ( 29405942 )
2017
21
[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis]. ( 28506345 )
2017
22
Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia. ( 28868782 )
2017
23
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. ( 28888853 )
2017
24
Hypophosphatasia. ( 28939177 )
2017
25
Adult hypophosphatasia. ( 29405936 )
2017
26
Hypophosphatasia: An overview For 2017. ( 28238808 )
2017
27
Early Tooth Loss in Children: A Warning Sign of Childhood Hypophosphatasia. ( 29172356 )
2017
28
Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis. ( 28072448 )
2017
29
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. ( 28127875 )
2017
30
Perinatal and infantile hypophosphatasia: clinical features and treatment. ( 29405934 )
2017
31
Laboratory diagnosis of hypophosphatasia. ( 29405933 )
2017
32
A Newborn with No Bones: Neonatal Hypophosphatasia with Respiratory Distress. ( 28662950 )
2017
33
Clinical, radiographic and biochemical characteristics of adult hypophosphatasia. ( 28547134 )
2017
34
Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia. ( 28326564 )
2017
35
Teriparatide treatment in an adult patient with hypophosphatasia exposed to bisphosphonate and revealed by bilateral atypical fractures. ( 29246529 )
2017
36
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. ( 28763161 )
2017
37
Identification of hypophosphatasia in a clinical setting: Clinical manifestations and diagnostic recommendations in adult patients. ( 28755823 )
2017
38
Could biochemistry lab alert for low alkaline phosphatase prompt diagnosis of hypophosphatasia? ( 28766503 )
2017
39
Successful Asfotase Alfa Treatment in an Adult Dialysis Patient With Childhood-Onset Hypophosphatasia. ( 29264574 )
2017
40
Pyridoxine Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL gene. ( 27086862 )
2016
41
Asfotase alfa (Strensiq) for hypophosphatasia. ( 27403786 )
2016
42
Alkaline Phosphatase and Hypophosphatasia. ( 26590809 )
2016
43
Asfotase Alfa: A Review in Paediatric-Onset Hypophosphatasia. ( 26744272 )
2016
44
Hypophosphatasia: Natural history study of 101 affected children investigated at one research center. ( 27576207 )
2016
45
Nondestructive Microcomputed Tomography Evaluation of Mineral Density in Exfoliated Teeth with Hypophosphatasia. ( 27847653 )
2016
46
Hypophosphatasia and the risk of atypical femur fractures: a case-control study. ( 27507156 )
2016
47
Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective. ( 27030892 )
2016
48
Gene therapy improves dental manifestations in hypophosphatasia model mice. ( 27561677 )
2016
49
Bone mineralization-dependent craniosynostosis and craniofacial shape abnormalities in the mouse model of infantile hypophosphatasia. ( 26605996 )
2016
50
Atypical femoral fracture in a 51-year-old woman: Revealing a hypophosphatasia. ( 26992955 )
2016

Variations for Hypophosphatasia

ClinVar genetic disease variations for Hypophosphatasia:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALPL NM_000478.5(ALPL): c.881A> C (p.Asp294Ala) single nucleotide variant Pathogenic rs121918002 GRCh37 Chromosome 1, 21900176: 21900176
2 ALPL NM_000478.5(ALPL): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121918007 GRCh37 Chromosome 1, 21890632: 21890632
3 ALPL NM_000478.5(ALPL): c.1133A> T (p.Asp378Val) single nucleotide variant Pathogenic rs121918008 GRCh37 Chromosome 1, 21902361: 21902361
4 ALPL NM_000478.5(ALPL): c.1001G> A (p.Gly334Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121918009 GRCh37 Chromosome 1, 21902229: 21902229
5 ALPL NM_000478.5(ALPL): c.979T> C (p.Phe327Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918010 GRCh37 Chromosome 1, 21900274: 21900274
6 ALPL NM_000478.5(ALPL): c.1559delT (p.Leu520Argfs) deletion Pathogenic rs387906525 GRCh37 Chromosome 1, 21904125: 21904125
7 ALPL NM_000478.5(ALPL): c.407G> A (p.Arg136His) single nucleotide variant Pathogenic/Likely pathogenic rs121918011 GRCh37 Chromosome 1, 21889712: 21889712
8 ALPL NM_000478.5(ALPL): c.485G> T (p.Gly162Val) single nucleotide variant Pathogenic rs121918012 GRCh37 Chromosome 1, 21890546: 21890546
9 ALPL NM_000478.5(ALPL): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918013 GRCh37 Chromosome 1, 21889651: 21889651
10 ALPL NM_000478.5(ALPL): c.746G> T (p.Gly249Val) single nucleotide variant Pathogenic rs121918018 GRCh37 Chromosome 1, 21894694: 21894694
11 ALPL NM_000478.5(ALPL): c.526G> A (p.Ala176Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918019 GRCh37 Chromosome 1, 21890587: 21890587
12 ALPL NM_000478.5(ALPL): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs121918020 GRCh37 Chromosome 1, 21896819: 21896819

Expression for Hypophosphatasia

Search GEO for disease gene expression data for Hypophosphatasia.

Pathways for Hypophosphatasia

Pathways related to Hypophosphatasia according to KEGG:

36
# Name Kegg Source Accession
1 Folate biosynthesis hsa00790

GO Terms for Hypophosphatasia

Biological processes related to Hypophosphatasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inositol phosphate metabolic process GO:0043647 9.32 PLCB4 PLCG1
2 endochondral ossification GO:0001958 9.26 ALPL RUNX2
3 skeletal system development GO:0001501 9.26 ALPL DSPP PHEX RUNX2
4 response to vitamin D GO:0033280 9.16 ALPL PHEX
5 biomineral tissue development GO:0031214 8.92 ALPL DSPP ENPP1 PHEX

Molecular functions related to Hypophosphatasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.63 ALPL ALPP ENPP1 PHEX PLCB4 PLCG1
2 catalytic activity GO:0003824 9.58 ALPL ALPP ENPP1
3 phosphoric diester hydrolase activity GO:0008081 9.37 PLCB4 PLCG1
4 calcium ion binding GO:0005509 9.35 DSPP ENPP1 PLCB4 PLCG1 SPTA1
5 phosphatidylinositol phospholipase C activity GO:0004435 9.32 PLCB4 PLCG1
6 phospholipase C activity GO:0004629 9.26 PLCB4 PLCG1
7 alkaline phosphatase activity GO:0004035 8.62 ALPL ALPP

Sources for Hypophosphatasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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