GDPL
MCID: GCH018
MIFTS: 42

Gaucher Disease, Perinatal Lethal (GDPL)

Categories: Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Gaucher Disease, Perinatal Lethal

MalaCards integrated aliases for Gaucher Disease, Perinatal Lethal:

Name: Gaucher Disease, Perinatal Lethal 57 29 13 6 39 70
Gaucher's Disease Perinatal Lethal 12 15
Gaucher Disease Perinatal Lethal 20 72
Perinatal Lethal Gaucher Disease 20 58
Gaucher Disease, Collodion Type 57 12
Fetal Gaucher Disease 12 58
Gaucher Disease, Perinatal-Lethal Form 20
Gaucher Disease Collodion Type 20
Gdpl 72

Characteristics:

Orphanet epidemiological data:

58
fetal gaucher disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in utero (30%)
hydrops fetalis is associated with death in utero (90%) or within 2 days of birth
in the absence of hydrops, death occurs within 3 months
most severe form of gaucher disease
considered to be a severe form of gaucher disease type ii


HPO:

31
gaucher disease, perinatal lethal:
Onset and clinical course death in infancy neonatal death stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Inborn errors of metabolism


Summaries for Gaucher Disease, Perinatal Lethal

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85212 Definition Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term). Epidemiology It is very rare with an incidence of less than 5% of GD cases. Clinical description This form is particularly severe. The disease manifests in the fetus with a decrease or absence of fetal movements, fetal and placental anasarca, hepatosplenomegaly, ichthyosis, arthrogryposis, facial dysmorphism and fetal thrombocytopenia. Death usually occurs in utero or shortly after birth (<3 months). Etiology Fetal Gaucher disease is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that encodes for the lysosomal enzyme, glucocerebrosidase. The enzyme deficiency resulting from the mutation leads to accumulation of glucosylceramide (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, spleen and bone marrow (Gaucher cells). Diagnostic methods Diagnosis is made by demonstrating a deficiency in the enzymatic activity of glucocerebrosidase. Antenatal diagnosis Biochemical prenatal diagnosis is recommended for couples who have already had a child diagnosed with Fetal Gaucher disease or GD type 2. It can be carried out by measuring the enzyme activity in chorionic villus samples at 10-12 weeks of pregnancy or in amniocytes in culture towards 16 weeks of pregnancy. Genetic counseling The transmission is autosomal recessive. Management and treatment There is no treatment for this severe form of the disease.

MalaCards based summary : Gaucher Disease, Perinatal Lethal, also known as gaucher's disease perinatal lethal, is related to gaucher disease, type i and gaucher's disease, and has symptoms including seizures, apnea and respiratory distress. An important gene associated with Gaucher Disease, Perinatal Lethal is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways is Lysosome. Affiliated tissues include spleen, bone marrow and liver, and related phenotypes are hydrops fetalis and thrombocytopenia

Disease Ontology : 12 A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22.

OMIM® : 57 Perinatal lethal Gaucher disease is considered to be a distinct form of type II Gaucher disease (230900) (Mignot et al., 2003). (608013) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Gaucher disease perinatal lethal: Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism.

Related Diseases for Gaucher Disease, Perinatal Lethal

Graphical network of the top 20 diseases related to Gaucher Disease, Perinatal Lethal:



Diseases related to Gaucher Disease, Perinatal Lethal

Symptoms & Phenotypes for Gaucher Disease, Perinatal Lethal

Human phenotypes related to Gaucher Disease, Perinatal Lethal:

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrops fetalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001789
2 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
3 intracranial hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0002170
4 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
5 pancytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001876
6 congenital nonbullous ichthyosiform erythroderma 58 31 very rare (1%) Very frequent (99-80%) HP:0007479
7 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
8 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
9 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
10 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
11 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
12 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
13 fetal akinesia sequence 58 31 frequent (33%) Frequent (79-30%) HP:0001989
14 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
15 ectropion 58 31 frequent (33%) Frequent (79-30%) HP:0000656
16 seizure 31 frequent (33%) HP:0001250
17 hypotonia 31 frequent (33%) HP:0001252
18 ichthyosis 58 31 Very frequent (99-80%) HP:0008064
19 decreased fetal movement 58 31 Very frequent (99-80%) HP:0001558
20 seizures 58 Frequent (79-30%)
21 dysphagia 31 HP:0002015
22 muscular hypotonia 58 Frequent (79-30%)
23 hypertelorism 31 HP:0000316
24 short nose 31 HP:0003196
25 microtia 31 HP:0008551
26 microcephaly 31 HP:0000252
27 flexion contracture 58 Frequent (79-30%)
28 cardiomegaly 31 HP:0001640
29 anemia 31 HP:0001903
30 hyperkeratosis 31 HP:0000962
31 everted lower lip vermilion 31 HP:0000232
32 strabismus 31 HP:0000486
33 ascites 31 HP:0001541
34 intrauterine growth retardation 31 HP:0001511
35 retrognathia 31 HP:0000278
36 micrognathia 31 HP:0000347
37 low-set ears 31 HP:0000369
38 narrow mouth 31 HP:0000160
39 open mouth 31 HP:0000194
40 polyhydramnios 31 HP:0001561
41 death in infancy 58 Very frequent (99-80%)
42 ventriculomegaly 31 HP:0002119
43 apnea 31 HP:0002104
44 petechiae 31 HP:0000967
45 hepatic failure 31 HP:0001399
46 everted upper lip vermilion 31 HP:0010803
47 decreased body weight 31 HP:0004325
48 triangular face 31 HP:0000325
49 abnormality of the spleen 58 Frequent (79-30%)
50 premature birth 31 HP:0001622

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
progressive neurologic deterioration
apathy
akinesia
hypokinesia
more
Abdomen Spleen:
splenomegaly

Head And Neck Eyes:
hypertelorism
strabismus

Head And Neck Nose:
anteverted nares
small nose
flat nasal bridge

Cardiovascular Heart:
cardiomegaly

Skin Nails Hair Skin Histology:
hyperkeratosis

Prenatal Manifestations:
intrauterine growth retardation
hydrops fetalis, nonimmune

Head And Neck Ears:
low-set ears
small ears
malformed ears

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Prenatal Manifestations Delivery:
premature birth

Skeletal:
arthrogryposis

Laboratory Abnormalities:
decreased beta-glucocerebrosidase protein and activity
gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system

Respiratory Lung:
lung hypoplasia with fetal hydrops

Abdomen Gastrointestinal:
dysphagia

Abdomen Liver:
hepatomegaly
liver failure

Head And Neck Head:
microcephaly

Skin Nails Hair Skin:
ichthyosis
purpura
petechiae
desquamation of skin soon after birth
collodion skin
more
Hematology:
anemia
thrombocytopenia

Abdomen External Features:
ascites

Head And Neck Face:
retrognathia
micrognathia
triangular face
dysmorphic facies (30%)

Head And Neck Mouth:
open mouth
microstomia
everted lips

Respiratory:
apnea
respiratory distress

Chest External Features:
small thorax

Growth Other:
intrauterine growth retardation (iugr)

Prenatal Manifestations Movement:
decreased fetal movements

Clinical features from OMIM®:

608013 (Updated 05-Apr-2021)

UMLS symptoms related to Gaucher Disease, Perinatal Lethal:


seizures; apnea; respiratory distress; opisthotonus; petechiae of skin

Drugs & Therapeutics for Gaucher Disease, Perinatal Lethal

Search Clinical Trials , NIH Clinical Center for Gaucher Disease, Perinatal Lethal

Genetic Tests for Gaucher Disease, Perinatal Lethal

Genetic tests related to Gaucher Disease, Perinatal Lethal:

# Genetic test Affiliating Genes
1 Gaucher Disease, Perinatal Lethal 29 GBA

Anatomical Context for Gaucher Disease, Perinatal Lethal

MalaCards organs/tissues related to Gaucher Disease, Perinatal Lethal:

40
Spleen, Bone Marrow, Liver, Bone, Lung, Heart

Publications for Gaucher Disease, Perinatal Lethal

Articles related to Gaucher Disease, Perinatal Lethal:

(show all 40)
# Title Authors PMID Year
1
Perinatal-lethal Gaucher disease. 6 57 61
12838552 2003
2
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. 57 6
15214004 2004
3
Type 2 Gaucher disease: the collodion baby phenotype revisited. 57 6
10685993 2000
4
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? 6 57
10352942 1999
5
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. 6 57
8929950 1996
6
Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. 6 57
1437405 1992
7
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. 57 6
1594045 1992
8
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. 6
18586596 2008
9
Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships. 6
12791040 2003
10
A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. 6
11148530 2001
11
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. 57
10926300 2000
12
Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses. 57
10756347 2000
13
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). 6
10636167 2000
14
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. 57
10649495 2000
15
D409H/D409H genotype in Gaucher-like disease. 6
9040001 1997
16
Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease. 6
8751878 1996
17
Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease. 57
8599361 1995
18
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. 6
7475546 1995
19
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. 6
8544197 1995
20
Gaucher disease in Spanish patients: analysis of eight mutations. 6
7627184 1995
21
Glucocerebrosidase mutations in Gaucher disease. 6
8790604 1994
22
Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model? 6
7857677 1994
23
Mutations causing Gaucher disease. 6
8118460 1994
24
Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. 6
8516282 1993
25
Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. 6
1899336 1991
26
Sequence of two alleles responsible for Gaucher disease. 6
1972019 1990
27
Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. 6
1974409 1990
28
Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. 6
2502917 1989
29
Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient. 6
3180993 1988
30
Collodion babies with Gaucher's disease. 57
3415310 1988
31
The infantile form of Gaucher's disease in an infant of Jewish Sephardi origin. 57
5422102 1970
32
A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations. 61
31192173 2019
33
Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia. 61
29854527 2018
34
Bronchoalveolar lavage fluid in an infant with perinatal lethal Gaucher disease. 61
28402003 2017
35
Perinatal-lethal Gaucher disease presenting as hydrops fetalis. 61
26327947 2015
36
Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher disease. 61
23430923 2012
37
Perinatal lethal Gaucher disease. 61
20924719 2011
38
A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene. 61
21823541 2011
39
Type 2 Gaucher disease: 15 new cases and review of the literature. 61
16485335 2006
40
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum. 61
16396828 2005

Variations for Gaucher Disease, Perinatal Lethal

ClinVar genetic disease variations for Gaucher Disease, Perinatal Lethal:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106627981 , GBA NM_000157.4(GBA):c.1289C>T (p.Pro430Leu) SNV Pathogenic 931820 GRCh37: 1:155205571-155205571
GRCh38: 1:155235780-155235780
2 LOC106627981 , GBA NM_000157.4(GBA):c.1265_1319del (p.Leu422fs) Deletion Pathogenic 193611 rs80356768 GRCh37: 1:155205541-155205595
GRCh38: 1:155235750-155235804
3 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
4 LOC106627981 , GBA NM_000157.4(GBA):c.476G>A (p.Arg159Gln) SNV Pathogenic 4291 rs79653797 GRCh37: 1:155208420-155208420
GRCh38: 1:155238629-155238629
5 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4293 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
6 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro) SNV Pathogenic 4297 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
7 LOC106627981 , GBA NM_000157.4(GBA):c.1192C>T (p.Arg398Ter) SNV Pathogenic 4326 rs121908309 GRCh37: 1:155206068-155206068
GRCh38: 1:155236277-155236277
8 LOC106627981 , GBA NM_000157.4(GBA):c.887G>A (p.Arg296Gln) SNV Pathogenic 4328 rs78973108 GRCh37: 1:155207244-155207244
GRCh38: 1:155237453-155237453
9 LOC106627981 , GBA NM_000157.4(GBA):c.509G>T (p.Arg170Leu) SNV Pathogenic 4329 rs80356763 GRCh37: 1:155208387-155208387
GRCh38: 1:155238596-155238596
10 LOC106627981 , GBA NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) SNV Pathogenic 4290 rs76763715 GRCh37: 1:155205634-155205634
GRCh38: 1:155235843-155235843
11 LOC106627981 , GBA NM_000157.4(GBA):c.703T>C (p.Ser235Pro) SNV Pathogenic 21072 rs1064644 GRCh37: 1:155207983-155207983
GRCh38: 1:155238192-155238192
12 LOC106627981 , GBA NM_000157.4(GBA):c.1604G>A (p.Arg535His) SNV Pathogenic 4311 rs75822236 GRCh37: 1:155204793-155204793
GRCh38: 1:155235002-155235002
13 LOC106627981 , GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 GRCh37: 1:155204987-155204987
GRCh38: 1:155235196-155235196
14 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4293 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
15 LOC106627981 , GBA NM_000157.4(GBA):c.887G>A (p.Arg296Gln) SNV Pathogenic 4328 rs78973108 GRCh37: 1:155207244-155207244
GRCh38: 1:155237453-155237453
16 GBA NM_000157.4(GBA):c.115+1G>A SNV Pathogenic 93445 rs104886460 GRCh37: 1:155210420-155210420
GRCh38: 1:155240629-155240629
17 LOC106627981 , GBA NM_000157.4(GBA):c.882T>G (p.His294Gln) SNV Pathogenic 242810 rs367968666 GRCh37: 1:155207249-155207249
GRCh38: 1:155237458-155237458
18 LOC106627981 , GBA NM_000157.4(GBA):c.533del (p.Pro178fs) Deletion Pathogenic 4322 rs397518434 GRCh37: 1:155208363-155208363
GRCh38: 1:155238572-155238572
19 LOC106627981 , GBA NM_000157.4(GBA):c.1049A>G (p.His350Arg) SNV Pathogenic 4325 rs78198234 GRCh37: 1:155206211-155206211
GRCh38: 1:155236420-155236420
20 LOC106627981 , GBA NM_000157.4(GBA):c.870C>A (p.Phe290Leu) SNV Pathogenic 4331 rs121908313 GRCh37: 1:155207261-155207261
GRCh38: 1:155237470-155237470
21 LOC106627981 , GBA NM_000157.4(GBA):c.1309G>T (p.Val437Phe) SNV Pathogenic 4303 rs121908310 GRCh37: 1:155205551-155205551
GRCh38: 1:155235760-155235760
22 LOC106627981 , GBA NM_000157.4(GBA):c.1506-1G>A SNV Pathogenic 4333 rs1571964338 GRCh37: 1:155204892-155204892
GRCh38: 1:155235101-155235101
23 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro) SNV Pathogenic 4288 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
24 LOC106627981 , GBA NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) SNV Pathogenic 4290 rs76763715 GRCh37: 1:155205634-155205634
GRCh38: 1:155235843-155235843
25 LOC106627981 , GBA NM_000157.4(GBA):c.1388+1G>A SNV Pathogenic 1029994 GRCh37: 1:155205471-155205471
GRCh38: 1:155235680-155235680
26 GBA NM_001005741.3(GBA):c.-68-135A>G SNV Pathogenic 558789 rs188978150 GRCh37: 1:155211106-155211106
GRCh38: 1:155241315-155241315
27 LOC106627981 , GBA NM_000157.4(GBA):c.1090G>A (p.Gly364Arg) SNV Likely pathogenic 4318 rs121908305 GRCh37: 1:155206170-155206170
GRCh38: 1:155236379-155236379
28 LOC106627981 , GBA NM_000157.4(GBA):c.145G>A (p.Gly49Ser) SNV Uncertain significance 1028106 GRCh37: 1:155209839-155209839
GRCh38: 1:155240048-155240048
29 LOC106627981 , GBA NM_000157.4(GBA):c.1316G>A (p.Ser439Asn) SNV Uncertain significance 694729 rs1571966221 GRCh37: 1:155205544-155205544
GRCh38: 1:155235753-155235753
30 GBA NM_000157.4(GBA):c.34C>T (p.Pro12Ser) SNV Uncertain significance 930745 GRCh37: 1:155210502-155210502
GRCh38: 1:155240711-155240711
31 LOC106627981 , GBA NM_000157.4(GBA):c.1389-33del Deletion Uncertain significance 930901 GRCh37: 1:155205135-155205135
GRCh38: 1:155235344-155235344
32 LOC106627981 , GBA NM_000157.4(GBA):c.1223C>T (p.Thr408Met) SNV Uncertain significance 93447 rs75548401 GRCh37: 1:155206037-155206037
GRCh38: 1:155236246-155236246

UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease, Perinatal Lethal:

72
# Symbol AA change Variation ID SNP ID
1 GBA p.His350Arg VAR_009044 rs78198234
2 GBA p.Val437Phe VAR_009048 rs121908310
3 GBA p.Phe290Leu VAR_032409 rs121908313

Expression for Gaucher Disease, Perinatal Lethal

Search GEO for disease gene expression data for Gaucher Disease, Perinatal Lethal.

Pathways for Gaucher Disease, Perinatal Lethal

Pathways related to Gaucher Disease, Perinatal Lethal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.73 GBA CD68

GO Terms for Gaucher Disease, Perinatal Lethal

Cellular components related to Gaucher Disease, Perinatal Lethal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.96 GBA CD68
2 lysosomal membrane GO:0005765 8.62 GBA CD68

Sources for Gaucher Disease, Perinatal Lethal

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