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FDAH
MCID: HYP677
MIFTS: 25

Hyperthyroxinemia, Familial Dysalbuminemic (FDAH)

Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications
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Aliases & Classifications for Hyperthyroxinemia, Familial Dysalbuminemic

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MalaCards integrated aliases for Hyperthyroxinemia, Familial Dysalbuminemic:

Name: Hyperthyroxinemia, Familial Dysalbuminemic 58 76 30 6 45
Hyperthyroxinemia, Dysalbuminemic 6 41
Dysalbuminemic Hyperthyroxinemia 58 74
Bisalbuminemia 76 56
Fdah 58 76
Euthyroid Hyperthyroxinemia 1 58
Fdh 58

Classifications:

MalaCards categories:
Global: Genetic diseases
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External Ids:

OMIM 58 615999
MeSH 45 D050010
MedGen 43 C0342185
UMLS 74 C1863119
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Summaries for Hyperthyroxinemia, Familial Dysalbuminemic

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OMIM : 58 Familial dysalbuminemic hyperthyroxinemia is an autosomal dominant condition characterized by the presence of a variant serum albumin with preferential affinity for thyroxine (T4) in clinically euthyroid individuals. Individuals have consistently elevated total T4 and elevated or normal free T4 values with normal TSH levels. The condition may be confused with hyperthyroidism or thyroid hormone resistance syndromes, prompting repeated unnecessary laboratory testing and possibly even inappropriate treatment (summary by Heufelder et al., 1995). (615999)

MalaCards based summary : Hyperthyroxinemia, Familial Dysalbuminemic, also known as hyperthyroxinemia, dysalbuminemic, is related to focal dermal hypoplasia and osteopathia striata with cranial sclerosis. An important gene associated with Hyperthyroxinemia, Familial Dysalbuminemic is ALB (Albumin). Affiliated tissues include thyroid and testes.

UniProtKB/Swiss-Prot : 76 Hyperthyroxinemia, familial dysalbuminemic: A disorder characterized by abnormally elevated levels of total serum thyroxine (T4) in euthyroid patients. It is due to abnormal serum albumin that binds T4 with enhanced affinity.

Wikipedia : 77 Familial dysalbuminemic hyperthyroxinemia is a type of hyperthyroxinemia associated with mutations in... more...

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Related Diseases for Hyperthyroxinemia, Familial Dysalbuminemic

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 focal dermal hypoplasia 11.8
2 osteopathia striata with cranial sclerosis 11.2
3 hyperthyroxinemia 10.7
4 hypercholesterolemia, familial 10.3
5 thyroid hormone resistance, generalized, autosomal dominant 10.3
6 graves disease 1 10.3
7 congenital hypothyroidism 10.3
8 multinodular goiter 10.3
9 goiter 10.3
10 hypothyroidism 10.3
11 thyroiditis 10.3
12 nephrotic syndrome 10.2
13 allergic hypersensitivity disease 10.1
14 aspergillosis 10.0
15 chronic kidney failure 10.0
16 endocarditis 10.0
17 allergic bronchopulmonary aspergillosis 10.0
18 kidney disease 10.0
19 growth hormone deficiency 10.0

Graphical network of the top 20 diseases related to Hyperthyroxinemia, Familial Dysalbuminemic:



Diseases related to Hyperthyroxinemia, Familial Dysalbuminemic
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Symptoms & Phenotypes for Hyperthyroxinemia, Familial Dysalbuminemic

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Clinical features from OMIM:

615999
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Drugs & Therapeutics for Hyperthyroxinemia, Familial Dysalbuminemic

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Search Clinical Trials , NIH Clinical Center for Hyperthyroxinemia, Familial Dysalbuminemic

Cochrane evidence based reviews: hyperthyroxinemia, familial dysalbuminemic

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Genetic Tests for Hyperthyroxinemia, Familial Dysalbuminemic

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Genetic tests related to Hyperthyroxinemia, Familial Dysalbuminemic:

# Genetic test Affiliating Genes
1 Hyperthyroxinemia, Familial Dysalbuminemic 30 ALB
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Anatomical Context for Hyperthyroxinemia, Familial Dysalbuminemic

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MalaCards organs/tissues related to Hyperthyroxinemia, Familial Dysalbuminemic:

42
Thyroid, Testes
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Publications for Hyperthyroxinemia, Familial Dysalbuminemic

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Articles related to Hyperthyroxinemia, Familial Dysalbuminemic:

(show top 50) (show all 63)
# Title Authors Year
1
Familial dysalbuminemic hyperthyroxinemia in a 12-year-old girl. ( 31087584 )
2019
2
First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant. ( 27834068 )
2017
3
A case of familial dysalbuminemic hyperthyroxinemia (FDH) in Japan: FDH as a possible differential diagnosis of syndrome of inappropriate secretion of thyroid-stimulating hormone (SITSH). ( 27904073 )
2017
4
Familial Dysalbuminemic Hyperthyroxinemia that was Inappropriately Treated with Thiamazole Due to Pseudo-thyrotoxic Symptoms. ( 28781323 )
2017
5
SEVEN FAMILIAL DYSALBUMINEMIC HYPERTHYROXINEMIA CASES IN THREE UNRELATED JAPANESE FAMILIES AND HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY ANALYSIS OF THE THYROXINE BINDING PROFILE. ( 28816534 )
2017
6
Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia. ( 29163366 )
2017
7
Mutants and molecular dockings reveal that the primary L-thyroxine binding site in human serum albumin is not the one which can cause familial dysalbuminemic hyperthyroxinemia. ( 26777880 )
2016
8
Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P). ( 27081329 )
2016
9
Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading. ( 25153218 )
2015
10
A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. ( 24494774 )
2014
11
A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. ( 24646103 )
2014
12
Spuriously high free thyroxine values in familial dysalbuminemic hyperthyroxinemia. ( 21149501 )
2011
13
Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge. ( 19282355 )
2009
14
Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia. ( 15068631 )
2004
15
Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia. ( 12743361 )
2003
16
Familial dysalbuminemic hyperthyroxinemia: a rare example of albumin polymorphism and its rapid molecular diagnosis. ( 12099390 )
2002
17
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. ( 11743520 )
2001
18
Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine. ( 10946882 )
2000
19
Structural investigations of a new familial dysalbuminemic hyperthyroxinemia genotype. ( 10430791 )
1999
20
A point mutation in the albumin gene in a Chinese patient with familial dysalbuminemic hyperthyroxinemia. ( 10526251 )
1999
21
Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. ( 9589637 )
1998
22
A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. ( 9329347 )
1997
23
Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia. ( 8702585 )
1996
24
Inhibition of serum protein binding of thyroxine in a hypothyroid patient with familial dysalbuminemic hyperthyroxinemia. ( 8929830 )
1996
25
Familial dysalbuminemic hyperthyroxinemia and thyroid hormone autoantibodies: interference in current free thyroid hormone assays. ( 8964572 )
1996
26
Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. ( 7829599 )
1995
27
Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia. ( 7852505 )
1995
28
Familial dysalbuminemic hyperthyroxinemia in pregnancy. ( 8548059 )
1995
29
Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients. ( 15251607 )
1995
30
An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. ( 8048949 )
1994
31
Postpartum thyroiditis and familial dysalbuminemic hyperthyroxinemia. ( 8288714 )
1994
32
A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. ( 8064810 )
1994
33
Free thyroxine measured by the Ciba Corning ACS-180 on samples from patients with familial dysalbuminemic hyperthyroxinemia. ( 8353971 )
1993
34
The effects of danazol on a patient with familial dysalbuminemic hyperthyroxinemia. ( 8422721 )
1993
35
Fluorescence investigations of albumin from patients with familial dysalbuminemic hyperthyroxinemia. ( 8475173 )
1993
36
Familial dysalbuminemic hyperthyroxinemia associated with multinodular goiter and elevated radioiodine uptake. A case report. ( 1769174 )
1991
37
Prevalence of familial dysalbuminemic hyperthyroxinemia in serum samples received for thyroid testing. ( 1868606 )
1991
38
Elevated thyroxine and free thyroxine in euthyroid patients: familial dysalbuminemic hyperthyroxinemia. ( 2109350 )
1990
39
Diagnosis of familial dysalbuminemic hyperthyroxinemia and investigation of the nature of the variant albumin. ( 2135643 )
1990
40
Can the type of variant albumin in familial dysalbuminemic hyperthyroxinemia be determined by measuring iodothyronines in serum? ( 2253589 )
1990
41
Studies on the nature of iodothyronine binding in familial dysalbuminemic hyperthyroxinemia. ( 2370303 )
1990
42
Thyroxin binding by human serum albumin after denaturation of the thyroxin-binding globulin in familial dysalbuminemic hyperthyroxinemia. ( 3129213 )
1988
43
Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin. ( 3142912 )
1988
44
Familial dysalbuminemic hyperthyroxinemia in a Hispanic family. ( 3341680 )
1988
45
Free thyroxin in familial dysalbuminemic hyperthyroxinemia, as measured by five assays. ( 3349617 )
1988
46
Coexistence of familial dysalbuminemic hyperthyroxinemia with familial hypercholesterolemia and multiple lipoprotein type hyperlipidemia. ( 3407659 )
1988
47
A four generation study of familial dysalbuminemic hyperthyroxinemia: diagnosis in the presence of an acquired excess of thyroxine-binding globulin. ( 3110251 )
1987
48
Familial dysalbuminemic hyperthyroxinemia. ( 3111180 )
1987
49
Role of serum carrier proteins in the peripheral metabolism and tissue distribution of thyroid hormones in familial dysalbuminemic hyperthyroxinemia and congenital elevation of thyroxine-binding globulin. ( 3112186 )
1987
50
Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics. ( 3662294 )
1987
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Variations for Hyperthyroxinemia, Familial Dysalbuminemic

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UniProtKB/Swiss-Prot genetic disease variations for Hyperthyroxinemia, Familial Dysalbuminemic:

76
# Symbol AA change Variation ID SNP ID
1 ALB p.Arg242His VAR_000514 rs75002628
2 ALB p.Leu90Pro VAR_013011 rs77892378
3 ALB p.Arg242Pro VAR_013013 rs75002628

ClinVar genetic disease variations for Hyperthyroxinemia, Familial Dysalbuminemic:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALB NM_000477.6(ALB): c.725G> A (p.Arg242His) single nucleotide variant Uncertain significance rs75002628 GRCh37 Chromosome 4, 74277724: 74277724
2 ALB NM_000477.6(ALB): c.725G> A (p.Arg242His) single nucleotide variant Uncertain significance rs75002628 GRCh38 Chromosome 4, 73412007: 73412007
3 ALB NM_000477.6(ALB): c.725G> C (p.Arg242Pro) single nucleotide variant Affects rs75002628 GRCh37 Chromosome 4, 74277724: 74277724
4 ALB NM_000477.6(ALB): c.725G> C (p.Arg242Pro) single nucleotide variant Affects rs75002628 GRCh38 Chromosome 4, 73412007: 73412007
5 ALB NM_000477.6(ALB): c.269T> C (p.Leu90Pro) single nucleotide variant Affects rs77892378 GRCh37 Chromosome 4, 74272477: 74272477
6 ALB NM_000477.6(ALB): c.269T> C (p.Leu90Pro) single nucleotide variant Affects rs77892378 GRCh38 Chromosome 4, 73406760: 73406760
7 ALB NM_000477.6(ALB): c.271-8C> T single nucleotide variant Likely benign rs55888080 GRCh38 Chromosome 4, 73408586: 73408586
8 ALB NM_000477.6(ALB): c.271-8C> T single nucleotide variant Likely benign rs55888080 GRCh37 Chromosome 4, 74274303: 74274303
9 ALB NM_000477.6(ALB): c.612A> G (p.Pro204=) single nucleotide variant Uncertain significance rs58639526 GRCh38 Chromosome 4, 73409484: 73409484
10 ALB NM_000477.6(ALB): c.612A> G (p.Pro204=) single nucleotide variant Uncertain significance rs58639526 GRCh37 Chromosome 4, 74275201: 74275201
11 ALB NM_000477.6(ALB): c.615+14G> T single nucleotide variant Likely benign rs55861135 GRCh38 Chromosome 4, 73409501: 73409501
12 ALB NM_000477.6(ALB): c.615+14G> T single nucleotide variant Likely benign rs55861135 GRCh37 Chromosome 4, 74275218: 74275218
13 ALB NM_000477.6(ALB): c.1429-9G> T single nucleotide variant Uncertain significance rs373682659 GRCh38 Chromosome 4, 73418079: 73418079
14 ALB NM_000477.6(ALB): c.1429-9G> T single nucleotide variant Uncertain significance rs373682659 GRCh37 Chromosome 4, 74283796: 74283796
15 ALB NM_000477.6(ALB): c.1785+7C> T single nucleotide variant Uncertain significance rs141131597 GRCh38 Chromosome 4, 73419646: 73419646
16 ALB NM_000477.6(ALB): c.1785+7C> T single nucleotide variant Uncertain significance rs141131597 GRCh37 Chromosome 4, 74285363: 74285363
17 ALB NM_000477.6(ALB): c.*14A> C single nucleotide variant Uncertain significance rs746946403 GRCh38 Chromosome 4, 73420312: 73420312
18 ALB NM_000477.6(ALB): c.*14A> C single nucleotide variant Uncertain significance rs746946403 GRCh37 Chromosome 4, 74286029: 74286029
19 ALB NM_000477.6(ALB): c.-45T> C single nucleotide variant Uncertain significance rs375806262 GRCh38 Chromosome 4, 73404283: 73404283
20 ALB NM_000477.6(ALB): c.-45T> C single nucleotide variant Uncertain significance rs375806262 GRCh37 Chromosome 4, 74270000: 74270000
21 ALB NM_000477.6(ALB): c.137+4A> C single nucleotide variant Uncertain significance rs886059619 GRCh38 Chromosome 4, 73405177: 73405177
22 ALB NM_000477.6(ALB): c.137+4A> C single nucleotide variant Uncertain significance rs886059619 GRCh37 Chromosome 4, 74270894: 74270894
23 ALB NM_000477.6(ALB): c.913A> G (p.Lys305Glu) single nucleotide variant Uncertain significance rs377046738 GRCh38 Chromosome 4, 73413489: 73413489
24 ALB NM_000477.6(ALB): c.913A> G (p.Lys305Glu) single nucleotide variant Uncertain significance rs377046738 GRCh37 Chromosome 4, 74279206: 74279206
25 ALB NM_000477.6(ALB): c.1059-11A> G single nucleotide variant Uncertain significance rs370277014 GRCh38 Chromosome 4, 73415024: 73415024
26 ALB NM_000477.6(ALB): c.1059-11A> G single nucleotide variant Uncertain significance rs370277014 GRCh37 Chromosome 4, 74280741: 74280741
27 ALB NM_000477.6(ALB): c.1290-6T> C single nucleotide variant Uncertain significance rs57705126 GRCh38 Chromosome 4, 73417525: 73417525
28 ALB NM_000477.6(ALB): c.1290-6T> C single nucleotide variant Uncertain significance rs57705126 GRCh37 Chromosome 4, 74283242: 74283242
29 ALB NM_000477.6(ALB): c.1434C> T (p.Ser478=) single nucleotide variant Uncertain significance rs139400924 GRCh38 Chromosome 4, 73418093: 73418093
30 ALB NM_000477.6(ALB): c.1434C> T (p.Ser478=) single nucleotide variant Uncertain significance rs139400924 GRCh37 Chromosome 4, 74283810: 74283810
31 ALB NM_000477.6(ALB): c.1472C> T (p.Thr491Met) single nucleotide variant Uncertain significance rs776185501 GRCh38 Chromosome 4, 73418131: 73418131
32 ALB NM_000477.6(ALB): c.1472C> T (p.Thr491Met) single nucleotide variant Uncertain significance rs776185501 GRCh37 Chromosome 4, 74283848: 74283848
33 ALB NM_000477.6(ALB): c.1647A> G (p.Lys549=) single nucleotide variant Uncertain significance rs142299078 GRCh38 Chromosome 4, 73418306: 73418306
34 ALB NM_000477.6(ALB): c.1647A> G (p.Lys549=) single nucleotide variant Uncertain significance rs142299078 GRCh37 Chromosome 4, 74284023: 74284023
35 ALB NM_000477.6(ALB): c.323A> G (p.Tyr108Cys) single nucleotide variant Uncertain significance rs142714816 GRCh38 Chromosome 4, 73408646: 73408646
36 ALB NM_000477.6(ALB): c.531A> T (p.Glu177Asp) single nucleotide variant Uncertain significance rs149432908 GRCh38 Chromosome 4, 73409403: 73409403
37 ALB NM_000477.6(ALB): c.531A> T (p.Glu177Asp) single nucleotide variant Uncertain significance rs149432908 GRCh37 Chromosome 4, 74275120: 74275120
38 ALB NM_000477.6(ALB): c.1446C> T (p.Asn482=) single nucleotide variant Uncertain significance rs59597814 GRCh38 Chromosome 4, 73418105: 73418105
39 ALB NM_000477.6(ALB): c.1446C> T (p.Asn482=) single nucleotide variant Uncertain significance rs59597814 GRCh37 Chromosome 4, 74283822: 74283822
40 ALB NM_000477.6(ALB): c.1508A> T (p.Glu503Val) single nucleotide variant Uncertain significance rs886059621 GRCh38 Chromosome 4, 73418167: 73418167
41 ALB NM_000477.6(ALB): c.1508A> T (p.Glu503Val) single nucleotide variant Uncertain significance rs886059621 GRCh37 Chromosome 4, 74283884: 74283884
42 ALB NM_000477.6(ALB): c.1608T> C (p.Asp536=) single nucleotide variant Uncertain significance rs56042353 GRCh38 Chromosome 4, 73418267: 73418267
43 ALB NM_000477.6(ALB): c.1608T> C (p.Asp536=) single nucleotide variant Uncertain significance rs56042353 GRCh37 Chromosome 4, 74283984: 74283984
44 ALB NM_000477.6(ALB): c.323A> G (p.Tyr108Cys) single nucleotide variant Uncertain significance rs142714816 GRCh37 Chromosome 4, 74274363: 74274363
45 ALB NM_000477.6(ALB): c.1668C> T (p.Leu556=) single nucleotide variant Likely benign rs962004 GRCh38 Chromosome 4, 73419522: 73419522
46 ALB NM_000477.6(ALB): c.1668C> T (p.Leu556=) single nucleotide variant Likely benign rs962004 GRCh37 Chromosome 4, 74285239: 74285239
47 ALB NM_000477.6(ALB): c.616-3T> C single nucleotide variant Uncertain significance rs61375018 GRCh38 Chromosome 4, 73410309: 73410309
48 ALB NM_000477.6(ALB): c.616-3T> C single nucleotide variant Uncertain significance rs61375018 GRCh37 Chromosome 4, 74276026: 74276026
49 ALB NM_000477.6(ALB): c.891T> C (p.Ser297=) single nucleotide variant Uncertain significance rs56167251 GRCh38 Chromosome 4, 73413467: 73413467
50 ALB NM_000477.6(ALB): c.891T> C (p.Ser297=) single nucleotide variant Uncertain significance rs56167251 GRCh37 Chromosome 4, 74279184: 74279184
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Expression for Hyperthyroxinemia, Familial Dysalbuminemic

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Search GEO for disease gene expression data for Hyperthyroxinemia, Familial Dysalbuminemic.
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Pathways for Hyperthyroxinemia, Familial Dysalbuminemic

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GO Terms for Hyperthyroxinemia, Familial Dysalbuminemic

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Sources for Hyperthyroxinemia, Familial Dysalbuminemic

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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