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FDAH
MCID: HYP677
MIFTS: 26

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 57 75 29 6 44
Hyperthyroxinemia, Dysalbuminemic 6 40
Dysalbuminemic Hyperthyroxinemia 57 73
Bisalbuminemia 75 55
Fdah 57 75
Euthyroid Hyperthyroxinemia 1 57
Fdh 57

Classifications:

MalaCards categories:
Global: Genetic diseases
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External Ids:

OMIM 57 615999
MedGen 42 C0342185
MeSH 44 D050010
UMLS 73 C1863119
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Summaries for Hyperthyroxinemia, Familial Dysalbuminemic

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OMIM : 57 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, testes and kidney.

UniProtKB/Swiss-Prot : 75 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 : 76 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 17)
# Related Disease Score Top Affiliating Genes
1 focal dermal hypoplasia 11.7
2 osteopathia striata with cranial sclerosis 11.1
3 hyperthyroxinemia 10.6
4 hypercholesterolemia, familial 10.3
5 thyroid hormone resistance, generalized, autosomal dominant 10.3
6 congenital hypothyroidism 10.3
7 multinodular goiter 10.3
8 goiter 10.3
9 hypothyroidism 10.3
10 thyroiditis 10.3
11 neonatal hypothyroidism 10.3
12 nephrotic syndrome 10.2
13 aspergillosis 10.0
14 chronic kidney failure 10.0
15 endocarditis 10.0
16 allergic bronchopulmonary aspergillosis 10.0
17 kidney disease 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 29 ALB
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Anatomical Context for Hyperthyroxinemia, Familial Dysalbuminemic

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MalaCards organs/tissues related to Hyperthyroxinemia, Familial Dysalbuminemic:

41
Thyroid, Testes, Kidney
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Publications for Hyperthyroxinemia, Familial Dysalbuminemic

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Articles related to Hyperthyroxinemia, Familial Dysalbuminemic:

(show top 50) (show all 60)
# Title Authors Year
1
Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia. ( 29163366 )
2017
2
Familial Dysalbuminemic Hyperthyroxinemia that was Inappropriately Treated with Thiamazole Due to Pseudo-thyrotoxic Symptoms. ( 28781323 )
2017
3
First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant. ( 27834068 )
2017
4
SEVEN FAMILIAL DYSALBUMINEMIC HYPERTHYROXINEMIA CASES IN THREE UNRELATED JAPANESE FAMILIES AND HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY ANALYSIS OF THE THYROXINE BINDING PROFILE. ( 28816534 )
2017
5
Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P). ( 27081329 )
2016
6
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
7
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 )
2016
8
A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. ( 24646103 )
2014
9
A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. ( 24494774 )
2014
10
Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading. ( 25153218 )
2014
11
Spuriously high free thyroxine values in familial dysalbuminemic hyperthyroxinemia. ( 21149501 )
2011
12
Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge. ( 19282355 )
2009
13
Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia. ( 15068631 )
2004
14
Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia. ( 12743361 )
2003
15
Familial dysalbuminemic hyperthyroxinemia: a rare example of albumin polymorphism and its rapid molecular diagnosis. ( 12099390 )
2002
16
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. ( 11743520 )
2001
17
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
18
Structural investigations of a new familial dysalbuminemic hyperthyroxinemia genotype. ( 10430791 )
1999
19
A point mutation in the albumin gene in a Chinese patient with familial dysalbuminemic hyperthyroxinemia. ( 10526251 )
1999
20
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
21
Familial dysalbuminemic hyperthyroxinemia and thyroid hormone autoantibodies: interference in current free thyroid hormone assays. ( 8964572 )
1996
22
Inhibition of serum protein binding of thyroxine in a hypothyroid patient with familial dysalbuminemic hyperthyroxinemia. ( 8929830 )
1996
23
Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia. ( 8702585 )
1996
24
Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia. ( 7852505 )
1995
25
Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients. ( 15251607 )
1995
26
Familial dysalbuminemic hyperthyroxinemia in pregnancy. ( 8548059 )
1995
27
Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. ( 7829599 )
1995
28
Postpartum thyroiditis and familial dysalbuminemic hyperthyroxinemia. ( 8288714 )
1994
29
An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. ( 8048949 )
1994
30
Fluorescence investigations of albumin from patients with familial dysalbuminemic hyperthyroxinemia. ( 8475173 )
1993
31
The effects of danazol on a patient with familial dysalbuminemic hyperthyroxinemia. ( 8422721 )
1993
32
Free thyroxine measured by the Ciba Corning ACS-180 on samples from patients with familial dysalbuminemic hyperthyroxinemia. ( 8353971 )
1993
33
Prevalence of familial dysalbuminemic hyperthyroxinemia in serum samples received for thyroid testing. ( 1868606 )
1991
34
Familial dysalbuminemic hyperthyroxinemia associated with multinodular goiter and elevated radioiodine uptake. A case report. ( 1769174 )
1991
35
Elevated thyroxine and free thyroxine in euthyroid patients: familial dysalbuminemic hyperthyroxinemia. ( 2109350 )
1990
36
Can the type of variant albumin in familial dysalbuminemic hyperthyroxinemia be determined by measuring iodothyronines in serum? ( 2253589 )
1990
37
Studies on the nature of iodothyronine binding in familial dysalbuminemic hyperthyroxinemia. ( 2370303 )
1990
38
Diagnosis of familial dysalbuminemic hyperthyroxinemia and investigation of the nature of the variant albumin. ( 2135643 )
1990
39
Familial dysalbuminemic hyperthyroxinemia in a Hispanic family. ( 3341680 )
1988
40
Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin. ( 3142912 )
1988
41
Coexistence of familial dysalbuminemic hyperthyroxinemia with familial hypercholesterolemia and multiple lipoprotein type hyperlipidemia. ( 3407659 )
1988
42
Free thyroxin in familial dysalbuminemic hyperthyroxinemia, as measured by five assays. ( 3349617 )
1988
43
Thyroxin binding by human serum albumin after denaturation of the thyroxin-binding globulin in familial dysalbuminemic hyperthyroxinemia. ( 3129213 )
1988
44
A four generation study of familial dysalbuminemic hyperthyroxinemia: diagnosis in the presence of an acquired excess of thyroxine-binding globulin. ( 3110251 )
1987
45
Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics. ( 3662294 )
1987
46
Familial dysalbuminemic hyperthyroxinemia. ( 3111180 )
1987
47
Familial dysalbuminemic hyperthyroxinemia associated with primary thyroid disease. ( 3812513 )
1987
48
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
49
Sex hormone-binding protein in hyperthyroxinemic patients: a discriminator for thyroid status in thyroid hormone resistance and familial dysalbuminemic hyperthyroxinemia. ( 3084540 )
1986
50
Modulation of thyroid parameters by exogenous thyroxine in familial dysalbuminemic hyperthyroxinemia. ( 3081779 )
1986
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Variations for Hyperthyroxinemia, Familial Dysalbuminemic

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

75
# 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 GRCh37 Chromosome 4, 74283796: 74283796
14 ALB NM_000477.6(ALB): c.1429-9G> T single nucleotide variant Uncertain significance rs373682659 GRCh38 Chromosome 4, 73418079: 73418079
15 ALB NM_000477.6(ALB): c.1785+7C> T single nucleotide variant Uncertain significance rs141131597 GRCh37 Chromosome 4, 74285363: 74285363
16 ALB NM_000477.6(ALB): c.1785+7C> T single nucleotide variant Uncertain significance rs141131597 GRCh38 Chromosome 4, 73419646: 73419646
17 ALB NM_000477.6(ALB): c.*14A> C single nucleotide variant Uncertain significance rs746946403 GRCh37 Chromosome 4, 74286029: 74286029
18 ALB NM_000477.6(ALB): c.*14A> C single nucleotide variant Uncertain significance rs746946403 GRCh38 Chromosome 4, 73420312: 73420312
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 GRCh37 Chromosome 4, 74279206: 74279206
24 ALB NM_000477.6(ALB): c.913A> G (p.Lys305Glu) single nucleotide variant Uncertain significance rs377046738 GRCh38 Chromosome 4, 73413489: 73413489
25 ALB NM_000477.6(ALB): c.1059-11A> G single nucleotide variant Uncertain significance rs370277014 GRCh37 Chromosome 4, 74280741: 74280741
26 ALB NM_000477.6(ALB): c.1059-11A> G single nucleotide variant Uncertain significance rs370277014 GRCh38 Chromosome 4, 73415024: 73415024
27 ALB NM_000477.6(ALB): c.1290-6T> C single nucleotide variant Uncertain significance rs57705126 GRCh37 Chromosome 4, 74283242: 74283242
28 ALB NM_000477.6(ALB): c.1290-6T> C single nucleotide variant Uncertain significance rs57705126 GRCh38 Chromosome 4, 73417525: 73417525
29 ALB NM_000477.6(ALB): c.1434C> T (p.Ser478=) single nucleotide variant Uncertain significance rs139400924 GRCh37 Chromosome 4, 74283810: 74283810
30 ALB NM_000477.6(ALB): c.1434C> T (p.Ser478=) single nucleotide variant Uncertain significance rs139400924 GRCh38 Chromosome 4, 73418093: 73418093
31 ALB NM_000477.6(ALB): c.1472C> T (p.Thr491Met) single nucleotide variant Uncertain significance rs776185501 GRCh37 Chromosome 4, 74283848: 74283848
32 ALB NM_000477.6(ALB): c.1472C> T (p.Thr491Met) single nucleotide variant Uncertain significance rs776185501 GRCh38 Chromosome 4, 73418131: 73418131
33 ALB NM_000477.6(ALB): c.1647A> G (p.Lys549=) single nucleotide variant Uncertain significance rs142299078 GRCh37 Chromosome 4, 74284023: 74284023
34 ALB NM_000477.6(ALB): c.1647A> G (p.Lys549=) single nucleotide variant Uncertain significance rs142299078 GRCh38 Chromosome 4, 73418306: 73418306
35 ALB NM_000477.6(ALB): c.1446C> T (p.Asn482=) single nucleotide variant Uncertain significance rs59597814 GRCh38 Chromosome 4, 73418105: 73418105
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 GRCh37 Chromosome 4, 74283822: 74283822
39 ALB NM_000477.6(ALB): c.1508A> T (p.Glu503Val) single nucleotide variant Uncertain significance rs886059621 GRCh37 Chromosome 4, 74283884: 74283884
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.1608T> C (p.Asp536=) single nucleotide variant Uncertain significance rs56042353 GRCh37 Chromosome 4, 74283984: 74283984
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.1668C> T (p.Leu556=) single nucleotide variant Likely benign rs962004 GRCh37 Chromosome 4, 74285239: 74285239
44 ALB NM_000477.6(ALB): c.1668C> T (p.Leu556=) single nucleotide variant Likely benign rs962004 GRCh38 Chromosome 4, 73419522: 73419522
45 ALB NM_000477.6(ALB): c.323A> G (p.Tyr108Cys) single nucleotide variant Uncertain significance rs142714816 GRCh38 Chromosome 4, 73408646: 73408646
46 ALB NM_000477.6(ALB): c.323A> G (p.Tyr108Cys) single nucleotide variant Uncertain significance rs142714816 GRCh37 Chromosome 4, 74274363: 74274363
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 GRCh37 Chromosome 4, 74279184: 74279184
50 ALB NM_000477.6(ALB): c.891T> C (p.Ser297=) single nucleotide variant Uncertain significance rs56167251 GRCh38 Chromosome 4, 73413467: 73413467
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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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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