MCID: HRD180
MIFTS: 26

Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome

Categories: Blood diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

MalaCards integrated aliases for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome:

Name: Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 58
Hpfh-Sickle Cell Disease Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D57.2
Orphanet 58 ORPHA251380

Summaries for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

MalaCards based summary : Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome, also known as hpfh-sickle cell disease syndrome, is related to acute erythroid leukemia and cyanosis, transient neonatal. An important gene associated with Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production.

Related Diseases for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Diseases related to Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 acute erythroid leukemia 10.0 KLF1 HBG1 HBB
2 cyanosis, transient neonatal 10.0 LOC106099065 HBG2
3 thrombocytopenia with beta-thalassemia, x-linked 10.0 KLF1 HBG2 HBG1
4 glucosephosphate dehydrogenase deficiency 10.0 HBG2 HBB
5 hemoglobin e-beta-thalassemia syndrome 10.0 LOC107133510 LOC106099062 HBB
6 spherocytosis, type 4 10.0 KLF1 HBG2 HBB
7 sickle cell disease and related diseases 10.0 LOC107133510 LOC106099062 HBB
8 hemoglobin zurich 10.0 LOC107133510 LOC106099062 HBB
9 hemoglobinopathy toms river 9.9 LOC106099065 HBG2
10 splenic infarction 9.9 LOC107133510 LOC106099062 HBB
11 hemoglobin c disease 9.9 LOC107133510 LOC106099062 HBB
12 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 9.9 KLF1 HBG2 HBG1 HBB
13 spherocytosis, type 2 9.9 KLF1 HBG2 HBG1 HBB
14 hemoglobin h disease 9.9 KLF1 HBG2 HBG1 HBB
15 spherocytosis, type 3 9.9 KLF1 HBB BCL11A
16 methemoglobinemia 9.8 LOC107133510 LOC106099062 HBG2 HBB
17 thalassemia minor 9.8 LOC107133510 LOC106099062 KLF1 HBB
18 hemoglobin d disease 9.8 LOC110006319 LOC107133510 HBB
19 fetal hemoglobin quantitative trait locus 6 9.8 LOC117125591 KLF1
20 blood protein disease 9.8 HBG2 HBG1 HBB BCL11A
21 anemia, congenital dyserythropoietic, type iv 9.7 LOC117125591 KLF1
22 beta-thalassemia intermedia 9.7 LOC110006319 LOC107133510 LOC106099062 HBB
23 methemoglobinemia, beta type 9.7 LOC110006319 LOC107133510 LOC106099062 HBB
24 methemoglobinemia, beta-globin type 9.7 LOC110006319 LOC107133510 LOC106099062 HBB
25 beta-thalassemia, dominant inclusion body type 9.7 LOC110006319 LOC107133510 LOC106099062 HBB
26 beta-thalassemia major 9.6 LOC110006319 LOC107133510 LOC106099062 HBB
27 heinz body anemias 9.6 LOC110006319 LOC107133510 LOC106099062 HBB
28 congenital hemolytic anemia 9.6 KLF1 HBG2 HBG1 HBB BCL11A
29 hereditary spherocytosis 9.6 KLF1 HBG2 HBG1 HBB BCL11A
30 erythrocytosis, familial, 6 9.6 LOC110006319 LOC107133510 LOC106099062 HBB
31 hemoglobin se disease 9.5 LOC110006319 LOC107133510 LOC106099062 HBB
32 hemoglobin e disease 9.5 LOC107133510 LOC106099062 KLF1 HBB BCL11A
33 thalassemia 9.5 LOC110006319 LOC107133510 LOC106099062 HBG1 HBB
34 hemolytic anemia 9.5 LOC107133510 LOC106099062 KLF1 HBG2 HBG1 HBB
35 deficiency anemia 9.4 LOC107133510 LOC106099062 KLF1 HBG2 HBG1 HBB
36 malaria 9.3 LOC110006319 LOC107133510 LOC106099062 HBB
37 sickle cell disease 9.1 LOC110006319 LOC107133510 LOC106099062 HBG2 HBG1 HBB
38 sickle cell anemia 9.1 LOC110006319 LOC107133510 LOC106099062 HBG2 HBG1 HBB
39 hemoglobinopathy 8.9 LOC110006319 LOC107133510 LOC106099062 KLF1 HBG2 HBG1
40 alpha-thalassemia 8.9 LOC110006319 LOC107133510 LOC106099062 KLF1 HBG2 HBG1
41 beta-thalassemia 8.9 LOC110006319 LOC107133510 LOC106099062 KLF1 HBG2 HBG1
42 fetal hemoglobin quantitative trait locus 1 8.8 LOC110006319 LOC107133510 LOC106099065 LOC106099064 LOC106099062 HBG2

Graphical network of the top 20 diseases related to Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome:



Diseases related to Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome

Symptoms & Phenotypes for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Drugs & Therapeutics for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Search Clinical Trials , NIH Clinical Center for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome

Genetic Tests for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Anatomical Context for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Publications for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Articles related to Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome:

(show all 26)
# Title Authors PMID Year
1
Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population. 6
19958185 2009
2
A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F. 6
18443038 2008
3
A novel C-->A transversion within the distal CCAAT motif of the Ggamma-globin gene in the Algerian Ggammabeta+-hereditary persistence of fetal hemoglobin. 6
10335983 1999
4
The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C-->T] results from two independent gene conversion events. 6
9703422 1998
5
The molecular basis of HPFH in a British family identified by heteroduplex formation. 6
7687855 1993
6
A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin. 6
1379347 1992
7
Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia. 6
1487421 1992
8
The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene. 6
1704803 1991
9
trans-Activation of a globin promoter in nonerythroid cells. 6
1990287 1991
10
The Brazilian type of nondeletional A gamma-fetal hemoglobin has a C----G substitution at nucleotide -195 of the A gamma-globin gene. 6
2224140 1990
11
Transcriptional activation and DNA binding by the erythroid factor GF-1/NF-E1/Eryf 1. 6
2276623 1990
12
A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression. 6
1698280 1990
13
The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin. 6
2469505 1989
14
The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene. 6
3181130 1988
15
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia. 6
2452784 1988
16
Four base-pair DNA deletion in human A gamma globin-gene promoter associated with low A gamma expression in adults. 6
3377986 1988
17
A fetal globin gene mutation in A gamma nondeletion hereditary persistence of fetal hemoglobin increases promoter strength in a nonerythroid cell. 6
2451123 1988
18
The Greek A gamma beta+-HPFH observed in a large black family. 6
2441598 1987
19
The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population. 6
3033668 1987
20
The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene. 6
2430647 1986
21
Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter. 6
2423160 1986
22
Concordance of a point mutation 5' to the A gamma-globin gene with A gamma beta + hereditary persistence of fetal hemoglobin in Greeks. 6
2417646 1986
23
Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population. 6
6208955 1984
24
G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene. 6
6205403 1984
25
Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin. 6
1186896 1975
26
A form of hereditary persistence of fetal haemoglobin characterized by uneven cellular distribution of haemoglobin F and the production of haemoglobins A and A2 in homozygotes. 6
811241 1975

Variations for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

ClinVar genetic disease variations for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome:

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HBG2 , LOC106099065 NM_000184.2(HBG2):c.-167C>T SNV Pathogenic 14990 rs34809449 GRCh37: 11:5276125-5276125
GRCh38: 11:5254895-5254895
2 HBG2 , LOC106099065 NM_000184.2(HBG2):c.-167C>A SNV Pathogenic 15001 rs34809449 GRCh37: 11:5276125-5276125
GRCh38: 11:5254895-5254895
3 HBG1 , LOC106099064 NM_000559.2(HBG1):c.-170G>A SNV Pathogenic 15030 rs35378915 GRCh37: 11:5271204-5271204
GRCh38: 11:5249974-5249974
4 HBG1 , LOC106099064 NM_000559.2(HBG1):c.-53-198T>C SNV Pathogenic 15031 rs35710727 GRCh37: 11:5271285-5271285
GRCh38: 11:5250055-5250055
5 HBG1 , LOC106099064 NM_000559.2(HBG1):c.-53-196C>T SNV Pathogenic 15033 rs35983258 GRCh37: 11:5271283-5271283
GRCh38: 11:5250053-5250053
6 HBG1 , LOC106099064 NM_000559.2(HBG1):c.-53-195C>G SNV Pathogenic 15034 rs35321913 GRCh37: 11:5271282-5271282
GRCh38: 11:5250052-5250052
7 HBG1 , LOC106099064 NM_000559.2(HBG1):c.-167C>T SNV Pathogenic 15035 rs281860601 GRCh37: 11:5271201-5271201
GRCh38: 11:5249971-5249971
8 HBG1 HBG1, C-T, -158 SNV Pathogenic 15040 GRCh37:
GRCh38:
9 HBG2 HBG2, T-G, -567 SNV Pathogenic 29754 GRCh37:
GRCh38:
10 HBB HBB, 106-KB DEL Deletion Pathogenic 29751 GRCh37:
GRCh38:
11 HBG2 , LOC106099065 NM_000184.2(HBG2):c.-255C>G SNV Pathogenic 14982 rs35617911 GRCh37: 11:5276213-5276213
GRCh38: 11:5254983-5254983
12 LOC117125591 , KLF1 NM_006563.4(KLF1):c.892G>C (p.Ala298Pro) SNV Pathogenic 56891 rs387907598 GRCh37: 19:12996152-12996152
GRCh38: 19:12885338-12885338
13 KLF1 NM_006563.4(KLF1):c.1012C>T (p.Pro338Ser) SNV Pathogenic 56892 rs387907599 GRCh37: 19:12995776-12995776
GRCh38: 19:12884962-12884962
14 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
15 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
16 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
17 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
18 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-137C>A SNV Pathogenic 36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
19 HBG2 , LOC106099065 NM_000184.2(HBG2):c.-228T>C SNV Pathogenic 14983 rs63750654 GRCh37: 11:5276186-5276186
GRCh38: 11:5254956-5254956
20 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
21 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic 15333 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
22 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
23 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
24 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic 15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
25 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
26 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic 15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
27 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
28 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) Deletion Pathogenic 15417 rs80356821 GRCh37: 11:5247993-5247996
GRCh38: 11:5226763-5226766
29 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-138C>A SNV Likely pathogenic 393701 rs33944208 GRCh37: 11:5248389-5248389
GRCh38: 11:5227159-5227159
30 BCL11A NM_022893.4(BCL11A):c.386-24278G>A SNV Likely pathogenic 127265 rs11886868 GRCh37: 2:60720246-60720246
GRCh38: 2:60493111-60493111
31 HBG2 , LOC106099065 NM_000184.2(HBG2):c.-211C>T SNV Uncertain significance 14984 rs7482144 GRCh37: 11:5276169-5276169
GRCh38: 11:5254939-5254939
32 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.*53C>A SNV Uncertain significance 305001 rs886048393 GRCh37: 11:5246775-5246775
GRCh38: 11:5225545-5225545
33 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.*56A>T SNV Uncertain significance 305000 rs537944366 GRCh37: 11:5246772-5246772
GRCh38: 11:5225542-5225542
34 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.274C>T (p.Leu92=) SNV Uncertain significance 439144 rs769583496 GRCh37: 11:5247848-5247848
GRCh38: 11:5226618-5226618
35 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.*59A>G SNV Uncertain significance 878836 GRCh37: 11:5246769-5246769
GRCh38: 11:5225539-5225539
36 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.246C>A (p.Leu82=) SNV Uncertain significance 439778 rs145669504 GRCh37: 11:5247876-5247876
GRCh38: 11:5226646-5226646
37 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.208G>A (p.Gly70Ser) SNV Uncertain significance 15138 rs33947415 GRCh37: 11:5247914-5247914
GRCh38: 11:5226684-5226684
38 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.*18C>A SNV Uncertain significance 879417 GRCh37: 11:5246810-5246810
GRCh38: 11:5225580-5225580
39 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.85C>T (p.Leu29=) SNV Uncertain significance 879840 GRCh37: 11:5248167-5248167
GRCh38: 11:5226937-5226937
40 HBD NM_000519.4(HBD):c.*91G>A SNV Uncertain significance 305002 rs886048394 GRCh37: 11:5254103-5254103
GRCh38: 11:5232873-5232873
41 HBD , LOC109951029 NM_000519.3(HBD):c.-180A>G SNV Uncertain significance 305008 rs186432678 GRCh37: 11:5255843-5255843
GRCh38: 11:5234613-5234613
42 LOC106099063 , HBD NM_000519.4(HBD):c.76G>A (p.Gly26Ser) SNV Uncertain significance 305005 rs886048395 GRCh37: 11:5255588-5255588
GRCh38: 11:5234358-5234358
43 HBD , LOC109951029 NM_000519.3(HBD):c.-60A>T SNV Uncertain significance 305006 rs112372029 GRCh37: 11:5255723-5255723
GRCh38: 11:5234493-5234493
44 HBD NM_000519.4(HBD):c.*59C>G SNV Uncertain significance 305003 rs755421119 GRCh37: 11:5254135-5254135
GRCh38: 11:5232905-5232905
45 HBD , LOC109951029 NM_000519.3(HBD):c.-62C>T SNV Uncertain significance 305007 rs144322869 GRCh37: 11:5255725-5255725
GRCh38: 11:5234495-5234495
46 LOC106099063 , HBD NM_000519.4(HBD):c.225C>T (p.Gly75=) SNV Uncertain significance 305004 rs113727122 GRCh37: 11:5255311-5255311
GRCh38: 11:5234081-5234081
47 HBD NM_000519.4(HBD):c.*96G>T SNV Uncertain significance 879524 GRCh37: 11:5254098-5254098
GRCh38: 11:5232868-5232868
48 HBD NM_000519.4(HBD):c.*65T>C SNV Uncertain significance 879525 GRCh37: 11:5254129-5254129
GRCh38: 11:5232899-5232899
49 LOC106099063 , HBD NM_000519.4(HBD):c.97C>T (p.Leu33=) SNV Uncertain significance 879526 GRCh37: 11:5255439-5255439
GRCh38: 11:5234209-5234209
50 LOC106099063 , HBD NM_000519.4(HBD):c.83C>A (p.Ala28Asp) SNV Uncertain significance 879527 GRCh37: 11:5255581-5255581
GRCh38: 11:5234351-5234351

Expression for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Search GEO for disease gene expression data for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome.

Pathways for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Pathways related to Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11 HBG2 HBG1 HBB

GO Terms for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

Cellular components related to Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hemoglobin complex GO:0005833 9.13 HBG2 HBG1 HBB
2 haptoglobin-hemoglobin complex GO:0031838 8.8 HBG2 HBG1 HBB

Biological processes related to Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.43 HBG2 HBG1 HBB
2 cellular oxidant detoxification GO:0098869 9.33 HBG2 HBG1 HBB
3 hydrogen peroxide catabolic process GO:0042744 9.13 HBG2 HBG1 HBB
4 oxygen transport GO:0015671 8.8 HBG2 HBG1 HBB

Molecular functions related to Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.58 HBG2 HBG1 HBB
2 peroxidase activity GO:0004601 9.54 HBG2 HBG1 HBB
3 oxygen binding GO:0019825 9.5 HBG2 HBG1 HBB
4 oxygen carrier activity GO:0005344 9.43 HBG2 HBG1 HBB
5 organic acid binding GO:0043177 9.33 HBG2 HBG1 HBB
6 haptoglobin binding GO:0031720 9.13 HBG2 HBG1 HBB
7 hemoglobin alpha binding GO:0031721 8.8 HBG2 HBG1 HBB

Sources for Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease...

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