FHCL4
MCID: HYP840
MIFTS: 44

Hypercholesterolemia, Familial, 4 (FHCL4)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hypercholesterolemia, Familial, 4

MalaCards integrated aliases for Hypercholesterolemia, Familial, 4:

Name: Hypercholesterolemia, Familial, 4 56
Hypercholesterolemia, Autosomal Recessive 56 73 29 54
Arh 56 12 73
Hypercholesterolemia, Familial, Autosomal Recessive 13 39
Familial Autosomal Recessive Hypercholesterolemia 12 36
Autosomal Recessive Hypercholesterolemia 1 12 73
Autosomal Recessive Hypercholesterolemia 2 12 73
Autosomal Recessive Hypercholesterolemia 12 15
Fhcb1 12 73
Fhcb2 12 73
Arh1 12 73
Arh2 12 73
Hypercholesterolemia, Autosomal Recessive, 1, Formerly; Arh1, Formerly 56
Hypercholesterolemia, Autosomal Recessive, 2, Formerly; Arh2, Formerly 56
Hypercholesterolemia, Autosomal Recessive, 1, Formerly 56
Hypercholesterolemia, Autosomal Recessive, 2, Formerly 56
Hypercholesterolemia, Autosomal Recessive; Arh 56
Familial Hypercholesterolemia 4 6
Fhcb1, Formerly 56
Fhcb2, Formerly 56
Arh1, Formerly 56
Arh2, Formerly 56
Fhcl4 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hypercholesterolemia, familial, 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090105
OMIM 56 603813
OMIM Phenotypic Series 56 PS143890
KEGG 36 H01918
MeSH 43 D006937
ICD10 32 E78.0
MedGen 41 C1863512

Summaries for Hypercholesterolemia, Familial, 4

KEGG : 36 Autosomal recessive hypercholesterolemia (ARH) is a rare disorder characterized by elevated low-density lipoprotein (LDL) serum levels, xanthomatosis, and premature coronary artery disease. Several dyslipidemias have been identified which lead to severe primary hypercholesterolemia. Among them, ARH is characterized by clinical symptoms and plasma cholesterol levels intermediate between those found in heterozygous and homozygous familial hypercholesterolemia (FH) [DS:H00155] individuals. ARH patients develop symptomatic coronary artery disease later in life and their xanthomas tend to be large and bulky. In 2001, ARH was found to be caused by mutations in the LDL receptor adaptor protein 1 (LDLRAP1). In ARH, the internalization of the ligand-receptor complex cannot occur and all the LDL receptors accumulate on the cell membrane. In general, ARH patients show a better response to lipid-lowering therapy than the FH patients, and they rarely require LDL apheresis.

MalaCards based summary : Hypercholesterolemia, Familial, 4, also known as hypercholesterolemia, autosomal recessive, is related to hypercholesterolemia, familial, 1 and homozygous familial hypercholesterolemia. An important gene associated with Hypercholesterolemia, Familial, 4 is LDLRAP1 (Low Density Lipoprotein Receptor Adaptor Protein 1), and among its related pathways/superpathways are Endocytosis and Statin Pathway. Affiliated tissues include liver and heart, and related phenotypes are hypercholesterolemia and hypertriglyceridemia

Disease Ontology : 12 A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has material basis in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36.

OMIM : 56 Autosomal recessive familial hypercholesterolemia-4 (FCHL4) is a rare monogenic disease characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease (summary by Sanchez-Hernandez et al., 2018). (603813)

UniProtKB/Swiss-Prot : 73 Hypercholesterolemia, autosomal recessive: A familial condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very- low-density lipoproteins.

Related Diseases for Hypercholesterolemia, Familial, 4

Diseases in the Rare Hypercholesterolemia family:

Hypercholesterolemia, Familial, 1 Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Familial, 3 Hypercholesterolemia, Familial, 4
Familial Hypercholesterolemia

Diseases related to Hypercholesterolemia, Familial, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 30, show less)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 1 31.2 PCSK9 LDLRAP1 LDLR
2 homozygous familial hypercholesterolemia 30.6 PCSK9 LDLRAP1 LDLR
3 lipid metabolism disorder 30.4 PCSK9 LDLR H2AC18
4 familial hypercholesterolemia 28.2 ZBTB8OS TNFRSF10C SSNA1 PCSK9 PARPBP NPY
5 defective apolipoprotein b-100 10.5 PCSK9 LDLR
6 arcus corneae 10.5 PCSK9 LDLRAP1 LDLR
7 sea-blue histiocyte disease 10.5 PCSK9 LDLRAP1
8 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.5 ZBTB8OS DCAF8
9 corneal degeneration 10.4 PCSK9 LDLRAP1
10 retinitis pigmentosa 18 10.4 MICU1 H2AC18 DCAF8
11 actinomycosis 10.4 TNFRSF10C H2AC18 APEX2
12 hemochromatosis type 2 10.4 PARPBP MICU1 CHURC1
13 inherited metabolic disorder 10.4 ZBTB8OS PCSK9 LDLR H2AC18
14 coronary heart disease 1 10.3
15 gaucher disease, type iii 10.3 BRD4 APEX2
16 atherosclerosis susceptibility 10.3
17 cardiovascular system disease 10.3 PCSK9 NPY LDLR H2AC18
18 overnutrition 10.2 NPY H2AC18 AGRP
19 arts syndrome 10.1
20 cholesterol level quantitative trait locus 1 10.1
21 asbestosis 10.1
22 cholera 10.1
23 hypokalemia 10.1
24 asbestos intoxication 10.1
25 xanthomatosis 10.1
26 aortic valve disease 2 10.1
27 spindle cell hemangioma 10.1 DCAF8 CHURC1
28 lysosomal acid lipase deficiency 9.9
29 cholesterol ester storage disease 9.9
30 fatty liver disease 9.9

Graphical network of the top 20 diseases related to Hypercholesterolemia, Familial, 4:



Diseases related to Hypercholesterolemia, Familial, 4

Symptoms & Phenotypes for Hypercholesterolemia, Familial, 4

Human phenotypes related to Hypercholesterolemia, Familial, 4:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 31 obligate (100%) HP:0003124
2 hypertriglyceridemia 31 HP:0002155
3 atherosclerosis 31 HP:0002621
4 tendon xanthomatosis 31 HP:0010874
5 increased vldl cholesterol concentration 31 HP:0003362

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
hypertriglyceridemia
very high low-density lipoprotein (ldl) cholesterol (>400 mg/dl)
high total cholesterol (>600 mg/dl)

Skin Nails Hair Skin:
xanthomas

Clinical features from OMIM:

603813

GenomeRNAi Phenotypes related to Hypercholesterolemia, Familial, 4 according to GeneCards Suite gene sharing:

26 (showing 7, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.03 BRD4
2 Decreased viability GR00221-A-3 10.03 BRD4
3 Decreased viability GR00221-A-4 10.03 BRD4
4 Decreased viability GR00381-A-1 10.03 DAB2
5 Decreased viability GR00402-S-2 10.03 ADPRH ADPRS AGRP APEX2 BRD4 CHURC1
6 no effect GR00402-S-1 9.62 ADPRH ADPRS AGRP APEX2 BRD4 CHURC1
7 Decreased free cholesterol GR00340-A-2 9.33 LDLR LDLRAP1 PCSK9

Drugs & Therapeutics for Hypercholesterolemia, Familial, 4

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT03198897

Search NIH Clinical Center for Hypercholesterolemia, Familial, 4

Genetic Tests for Hypercholesterolemia, Familial, 4

Genetic tests related to Hypercholesterolemia, Familial, 4:

# Genetic test Affiliating Genes
1 Hypercholesterolemia, Autosomal Recessive 29 LDLRAP1

Anatomical Context for Hypercholesterolemia, Familial, 4

MalaCards organs/tissues related to Hypercholesterolemia, Familial, 4:

40
Liver, Heart

Publications for Hypercholesterolemia, Familial, 4

Articles related to Hypercholesterolemia, Familial, 4:

(showing 34, show less)
# Title Authors PMID Year
1
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. 54 56 6
15599766 2005
2
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. 54 56 6
11326085 2001
3
Autosomal recessive hypercholesterolemia in Spain. 56 6
29245109 2018
4
Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. 56 6
12788851 2003
5
Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. 56 6
12016260 2002
6
Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. 56 6
11897284 2002
7
Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree. 56 6
7628519 1995
8
Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients. 56 6
4351242 1973
9
Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene. 54 56
17686643 2007
10
Familial Hypercholesterolemia 6
24404629 2014
11
Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia. 56
17200716 2007
12
A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA. 6
12958143 2003
13
Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families. 56
11179013 2001
14
A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26. 56
10677305 2000
15
Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia. 56
10487776 1999
16
Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred. 56
10357843 1999
17
Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. 56
10073989 1999
18
Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia. 56
9626156 1998
19
Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group. 56
9409298 1997
20
Aortic stenosis in homozygous familial hypercholesterolaemia. 56
8774336 1996
21
Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH). 54 61
14717060 2003
22
A novel class of antihyperlipidemic agents with low density lipoprotein receptor up-regulation via the adaptor protein autosomal recessive hypercholesterolemia. 54
20356098 2010
23
Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia. 54
19477448 2009
24
The endocytic adaptor protein ARH associates with motor and centrosomal proteins and is involved in centrosome assembly and cytokinesis. 54
18417616 2008
25
Secreted PCSK9 downregulates low density lipoprotein receptor through receptor-mediated endocytosis. 54
17449864 2007
26
Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice. 54
17080197 2006
27
LDL-receptor mutations in Europe. 54
15523646 2004
28
Disruption of autosomal recessive hypercholesterolemia gene shows different phenotype in vitro and in vivo. 54
15472122 2004
29
Polarized distribution of mRNAs encoding a putative LDL receptor adaptor protein, xARH (autosomal recessive hypercholesterolemia) in Xenopus oocytes. 54
15327785 2004
30
Xenopus autosomal recessive hypercholesterolemia protein couples lipoprotein receptors with the AP-2 complex in oocytes and embryos and is required for vitellogenesis. 54
12944396 2003
31
Primary hypercholesterolemia: genetic causes and treatment of five monogenic disorders. 54
15030301 2003
32
Molecular mechanisms of autosomal recessive hypercholesterolemia. 54
12642779 2003
33
Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene. 54
12535754 2003
34
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. 54
12464675 2002

Variations for Hypercholesterolemia, Familial, 4

ClinVar genetic disease variations for Hypercholesterolemia, Familial, 4:

6 (showing 31, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LDLRAP1 NM_015627.2(LDLRAP1):c.65G>A (p.Trp22Ter)SNV Pathogenic 4773 rs121908324 1:25870254-25870254 1:25543763-25543763
2 LDLRAP1 NM_015627.2(LDLRAP1):c.432_433insA (p.Ala145fs)insertion Pathogenic 4774 rs1557703339 1:25883731-25883732 1:25557240-25557241
3 LDLRAP1 NM_015627.2(LDLRAP1):c.406C>T (p.Gln136Ter)SNV Pathogenic 4775 rs121908325 1:25883705-25883705 1:25557214-25557214
4 LDLRAP1 NM_015627.3(LDLRAP1):c.74dup (p.Gly26fs)duplication Pathogenic 4777 rs1553170279 1:25870261-25870262 1:25543770-25543771
5 LDLRAP1 NM_015627.2(LDLRAP1):c.89-1G>CSNV Pathogenic 4779 rs755104973 1:25880412-25880412 1:25553921-25553921
6 LDLRAP1 NM_015627.2(LDLRAP1):c.459+2T>GSNV Pathogenic 4780 rs1461905374 1:25883760-25883760 1:25557269-25557269
7 LDLRAP1 NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs)duplication Pathogenic 4781 rs781585299 1:25889626-25889627 1:25563135-25563136
8 LDLRAP1 NM_015627.2(LDLRAP1):c.863C>T (p.Ser288Leu)SNV Pathogenic 520396 rs753151497 1:25893419-25893419 1:25566928-25566928
9 LDLRAP1 NM_015627.3(LDLRAP1):c.431dup (p.His144fs)duplication Pathogenic 662264 1:25883729-25883730 1:25557238-25557239
10 LDLRAP1 NM_015627.2(LDLRAP1):c.71del (p.Gly24fs)deletion Pathogenic/Likely pathogenic 468290 rs1201229554 1:25870254-25870254 1:25543763-25543763
11 LDLRAP1 NM_015627.2(LDLRAP1):c.712C>T (p.Arg238Trp)SNV Conflicting interpretations of pathogenicity 296986 rs41291058 1:25890247-25890247 1:25563756-25563756
12 LDLRAP1 NM_015627.2(LDLRAP1):c.605C>A (p.Ser202Tyr)SNV Conflicting interpretations of pathogenicity 4776 rs121908326 1:25889633-25889633 1:25563142-25563142
13 LDLRAP1 NM_015627.2(LDLRAP1):c.604_605delinsCA (p.Ser202His)indel Uncertain significance 241063 rs386629678 1:25889632-25889633 1:25563141-25563142
14 LDLRAP1 NM_015627.2(LDLRAP1):c.115C>T (p.Arg39Trp)SNV Uncertain significance 406209 rs201179339 1:25880439-25880439 1:25553948-25553948
15 LDLRAP1 NM_015627.2(LDLRAP1):c.907G>A (p.Asp303Asn)SNV Uncertain significance 296988 rs199605881 1:25893463-25893463 1:25566972-25566972
16 LDLRAP1 NM_015627.2(LDLRAP1):c.451C>T (p.Arg151Trp)SNV Uncertain significance 296979 rs148916767 1:25883750-25883750 1:25557259-25557259
17 LDLRAP1 NM_015627.2(LDLRAP1):c.487C>T (p.Gln163Ter)SNV Uncertain significance 296981 rs1057515537 1:25889162-25889162 1:25562671-25562671
18 LDLRAP1 NM_015627.2(LDLRAP1):c.626C>T (p.Thr209Ile)SNV Uncertain significance 468288 rs141522360 1:25890161-25890161 1:25563670-25563670
19 LDLRAP1 NM_015627.2(LDLRAP1):c.675G>A (p.Thr225=)SNV Uncertain significance 663124 1:25890210-25890210 1:25563719-25563719
20 LDLRAP1 NM_015627.2(LDLRAP1):c.710C>T (p.Pro237Leu)SNV Uncertain significance 641308 1:25890245-25890245 1:25563754-25563754
21 LDLRAP1 NM_015627.2(LDLRAP1):c.235A>G (p.Lys79Glu)SNV Uncertain significance 568256 rs1557700990 1:25881354-25881354 1:25554863-25554863
22 LDLRAP1 NM_015627.2(LDLRAP1):c.842T>C (p.Met281Thr)SNV Uncertain significance 570480 rs1047410438 1:25893398-25893398 1:25566907-25566907
23 LDLRAP1 NM_015627.2(LDLRAP1):c.344+4C>TSNV Uncertain significance 567026 rs371561646 1:25881467-25881467 1:25554976-25554976
24 LDLRAP1 NM_015627.2(LDLRAP1):c.34A>G (p.Ile12Val)SNV Uncertain significance 581619 rs1250534468 1:25870223-25870223 1:25543732-25543732
25 LDLRAP1 NM_015627.2(LDLRAP1):c.122C>T (p.Thr41Met)SNV Uncertain significance 646841 1:25880446-25880446 1:25553955-25553955
26 LDLRAP1 NM_015627.2(LDLRAP1):c.227C>G (p.Ala76Gly)SNV Uncertain significance 648414 1:25880551-25880551 1:25554060-25554060
27 LDLRAP1 NM_015627.2(LDLRAP1):c.397G>A (p.Ala133Thr)SNV Uncertain significance 642366 1:25883696-25883696 1:25557205-25557205
28 LDLRAP1 NM_015627.2(LDLRAP1):c.849C>T (p.Tyr283=)SNV Likely benign 536201 rs147242385 1:25893405-25893405 1:25566914-25566914
29 LDLRAP1 NM_015627.2(LDLRAP1):c.906G>A (p.Gln302=)SNV Likely benign 468291 rs777827146 1:25893462-25893462 1:25566971-25566971
30 LDLRAP1 NM_015627.2(LDLRAP1):c.653C>T (p.Thr218Ile)SNV Benign 520395 rs114583297 1:25890188-25890188 1:25563697-25563697
31 LDLRAP1 NM_015627.2(LDLRAP1):c.654A>G (p.Thr218=)SNV Benign 296984 rs28969504 1:25890189-25890189 1:25563698-25563698

UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia, Familial, 4:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 LDLRAP1 p.Ser202His VAR_023320 rs386629678

Expression for Hypercholesterolemia, Familial, 4

Search GEO for disease gene expression data for Hypercholesterolemia, Familial, 4.

Pathways for Hypercholesterolemia, Familial, 4

Pathways related to Hypercholesterolemia, Familial, 4 according to KEGG:

36 (showing 1, show less)
# Name Kegg Source Accession
1 Endocytosis hsa04144

Pathways related to Hypercholesterolemia, Familial, 4 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.4 PCSK9 LDLRAP1 LDLR
2
Show member pathways
11.02 LDLRAP1 LDLR DAB2
3 10.56 NPY AGRP
4
Show member pathways
9.4 PCSK9 LDLR

GO Terms for Hypercholesterolemia, Familial, 4

Cellular components related to Hypercholesterolemia, Familial, 4 according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 endolysosome membrane GO:0036020 8.96 PCSK9 LDLR
2 PCSK9-LDLR complex GO:1990666 8.62 PCSK9 LDLR

Biological processes related to Hypercholesterolemia, Familial, 4 according to GeneCards Suite gene sharing:

(showing 11, show less)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 PARPBP MACROD1 BRD4 APEX2 ADPRS
2 membrane organization GO:0061024 9.63 LDLRAP1 LDLR DAB2
3 cholesterol homeostasis GO:0042632 9.61 PCSK9 LDLRAP1 LDLR
4 steroid metabolic process GO:0008202 9.56 PCSK9 LDLRAP1 LDLR FDXR
5 lipoprotein metabolic process GO:0042157 9.49 PCSK9 LDLR
6 cholesterol transport GO:0030301 9.48 LDLRAP1 LDLR
7 adult feeding behavior GO:0008343 9.37 NPY AGRP
8 protein de-ADP-ribosylation GO:0051725 9.32 MACROD1 ADPRH
9 cholesterol metabolic process GO:0008203 9.26 PCSK9 LDLRAP1 LDLR FDXR
10 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.16 LDLRAP1 LDLR
11 low-density lipoprotein particle clearance GO:0034383 8.8 PCSK9 LDLRAP1 LDLR

Molecular functions related to Hypercholesterolemia, Familial, 4 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 neuropeptide hormone activity GO:0005184 9.26 NPY AGRP
2 low-density lipoprotein particle receptor binding GO:0050750 9.16 PCSK9 LDLRAP1
3 low-density lipoprotein particle binding GO:0030169 8.96 PCSK9 LDLR
4 clathrin adaptor activity GO:0035615 8.62 LDLRAP1 DAB2

Sources for Hypercholesterolemia, Familial, 4

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
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