TDH1
MCID: THY071
MIFTS: 31

Thyroid Dyshormonogenesis 1 (TDH1)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Thyroid Dyshormonogenesis 1

MalaCards integrated aliases for Thyroid Dyshormonogenesis 1:

Name: Thyroid Dyshormonogenesis 1 57 12 72 29 13 6 70
Tdh1 57 12 72
Genetic Defect in Thyroid Hormonogenesis 1 12 72
Congenital Hypothyroidism Due to Dyshormonogenesis Type 1 72
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 1 57
Iodine Accumulation, Transport, or Trapping Defect 57
Iodide Accumulation, Transport, or Trapping Defect 12
Iodine Accumulation, Transport or Trapping Defect 72
Thyroid Hormonogenesis, Genetic Defect in, 1 57
Thyroid Dyshormonogenesis, Type 1 39
Chdh1 72

Characteristics:

OMIM®:

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

Miscellaneous:
hypothyroidism is less severe in individuals with high dietary iodine intake
preferably treated with iodine supplementation rather than thyroid hormone replacement


HPO:

31
thyroid dyshormonogenesis 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thyroid Dyshormonogenesis 1

OMIM® : 57 Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see 188540) stimulation. Park and Chatterjee (2005) reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder. (274400) (Updated 05-Apr-2021)

MalaCards based summary : Thyroid Dyshormonogenesis 1, also known as tdh1, is related to pendred syndrome and thyroid dyshormonogenesis 3, and has symptoms including constipation and dry skin. An important gene associated with Thyroid Dyshormonogenesis 1 is SLC5A5 (Solute Carrier Family 5 Member 5). Affiliated tissues include thyroid, and related phenotypes are intellectual disability and constipation

Disease Ontology : 12 A familial thyroid dyshormonogenesis that has material basis in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11.

UniProtKB/Swiss-Prot : 72 Thyroid dyshormonogenesis 1: A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism.

Related Diseases for Thyroid Dyshormonogenesis 1

Diseases in the Thyroid Dyshormonogenesis 2a family:

Thyroid Dyshormonogenesis 1 Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 4 Thyroid Dyshormonogenesis 5
Thyroid Dyshormonogenesis 6 Familial Thyroid Dyshormonogenesis

Diseases related to Thyroid Dyshormonogenesis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pendred syndrome 11.0
2 thyroid dyshormonogenesis 3 10.1

Symptoms & Phenotypes for Thyroid Dyshormonogenesis 1

Human phenotypes related to Thyroid Dyshormonogenesis 1:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 constipation 31 HP:0002019
3 hypothyroidism 31 HP:0000821
4 macroglossia 31 HP:0000158
5 umbilical hernia 31 HP:0001537
6 dry skin 31 HP:0000958
7 growth delay 31 HP:0001510
8 goiter 31 HP:0000853
9 lethargy 31 HP:0001254

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
constipation

Skin Nails Hair Skin:
dry skin

Head And Neck Mouth:
macroglossia (not always present)

Abdomen External Features:
umbilical hernia (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
lethargy (when taken off of medication)

Endocrine Features:
hypothyroidism
thyroid iodine accumulation defect

Growth Other:
growth retardation

Head And Neck Neck:
goiter (not always present)
thyroid nodules, hyperplastic and adenomatous

Neurologic Central Nervous System:
mental retardation (if untreated in infancy)

Laboratory Abnormalities:
low t4
low rai (radioactive iodine) uptake

Clinical features from OMIM®:

274400 (Updated 05-Apr-2021)

UMLS symptoms related to Thyroid Dyshormonogenesis 1:


constipation; dry skin

Drugs & Therapeutics for Thyroid Dyshormonogenesis 1

Search Clinical Trials , NIH Clinical Center for Thyroid Dyshormonogenesis 1

Genetic Tests for Thyroid Dyshormonogenesis 1

Genetic tests related to Thyroid Dyshormonogenesis 1:

# Genetic test Affiliating Genes
1 Thyroid Dyshormonogenesis 1 29 SLC5A5

Anatomical Context for Thyroid Dyshormonogenesis 1

MalaCards organs/tissues related to Thyroid Dyshormonogenesis 1:

40
Thyroid

Publications for Thyroid Dyshormonogenesis 1

Articles related to Thyroid Dyshormonogenesis 1:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. 6 57
9745458 1998
2
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. 6 57
9171822 1997
3
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
4
Morphological abnormalities in children with thyroidal congenital hypothyroidism. 57
19367618 2009
5
Naturally occurring mutations in the thyroglobulin gene. 57
16187910 2005
6
Genetics of congenital hypothyroidism. 57
15863666 2005
7
A novel peculiar mutation in the sodium/iodide symporter gene in spanish siblings with iodide transport defect. 6
12161518 2002
8
Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters. 6
10902780 2000
9
A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. 6
10487695 1999
10
High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures. 6
9814502 1998
11
Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect. 6
9709973 1998
12
Identification of a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism. 6
9657379 1998
13
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. 6
9486973 1998
14
A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect. 6
9398697 1997
15
Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene. 6
9388506 1997
16
Congenital hypothyroidism from complete iodide transport defect: long-term evolution with iodide treatment. 6
3451231 1987
17
Congenital hypothyroidism caused by defective iodide transport. 6
3998954 1985
18
Five cases of absence of iodide concentrating mechanism. 57
576528 1977
19
Partial defect of iodide trapping mechanism in two siblings with congenital goiter and hypothyroidism. 57
5051359 1972
20
GOITROUS MYXEDEMA DUE TO IODIDE TRAPPING DEFECT. 57
14044820 1963
21
Congenital hypothyroidism with goitre. Absence of an iodide-concentrating mechanism. 57
13833727 1960
22
Promoter-Library-Based Pathway Optimization for Efficient (2S)-Naringenin Production from p-Coumaric Acid in Saccharomyces cerevisiae. 61
32458684 2020
23
The formation of hybrid complexes between isoenzymes of glyceraldehyde-3-phosphate dehydrogenase regulates its aggregation state, the glycolytic activity and sphingolipid status in Saccharomyces cerevisiae. 61
31743950 2020
24
Combining proteomics and lipid analysis to unravel Confidor stress response in Saccharomyces cerevisiae. 61
31696623 2020
25
QsvR integrates into quorum sensing circuit to control Vibrio parahaemolyticus virulence. 61
30623553 2019
26
Clioquinol induces G2/M cell cycle arrest through the up-regulation of TDH3 in Saccharomyces cerevisiae. 61
30031471 2018
27
Cell-free production of pore forming toxins: Functional analysis of thermostable direct hemolysin from Vibrio parahaemolyticus. 61
29497355 2018
28
Selection of yeast Saccharomyces cerevisiae promoters available for xylose cultivation and fermentation. 61
28869192 2018
29
Vibrio parahaemolyticus CalR down regulates the thermostable direct hemolysin (TDH) gene transcription and thereby inhibits hemolytic activity. 61
28268179 2017
30
Changes in global gene expression of Vibrio parahaemolyticus induced by cold- and heat-stress. 61
26498286 2015
31
Development of a colony hybridization method for the enumeration of total and potentially enteropathogenic Vibrio parahaemolyticus in shellfish. 61
24984219 2014
32
On the role of GAPDH isoenzymes during pentose fermentation in engineered Saccharomyces cerevisiae. 61
24456572 2014
33
Identification of novel GAPDH-derived antimicrobial peptides secreted by Saccharomyces cerevisiae and involved in wine microbial interactions. 61
24292082 2014
34
[Effectiveness of expression of tdh gene of Vibrio parahaemolyticus depends on two point mutations in promoter region]. 61
23516897 2012
35
Exploring the genetic control of glycolytic oscillations in Saccharomyces cerevisiae. 61
22920924 2012
36
Engineering Yarrowia lipolytica to express secretory invertase with strong FBA1IN promoter. 61
22222800 2012
37
Construction of a beta-glucosidase expression system using the multistress-tolerant yeast Issatchenkia orientalis. 61
20467739 2010
38
Two-component signaling to the stress MAP kinase cascade in fission yeast. 61
20946853 2010
39
Evolutionarily engineered ethanologenic yeast detoxifies lignocellulosic biomass conversion inhibitors by reprogrammed pathways. 61
19517136 2009
40
Interfering with glycolysis causes Sir2-dependent hyper-recombination of Saccharomyces cerevisiae plasmids. 61
19390637 2009
41
Glycolytic enzyme GAPDH promotes peroxide stress signaling through multistep phosphorelay to a MAPK cascade. 61
18406331 2008
42
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. 61
18029453 2008
43
Multiple modes of chromatin configuration at natural meiotic recombination hot spots in fission yeast. 61
17827346 2007
44
Transcriptional regulation of phospholipid biosynthesis is linked to fatty acid metabolism by an acyl-CoA-binding-protein-dependent mechanism in Saccharomyces cerevisiae. 61
17593018 2007
45
Transcriptional profiles of the response to ketoconazole and amphotericin B in Trichophyton rubrum. 61
17060531 2007
46
mRNA detection by reverse transcription-PCR for monitoring viability and potential virulence in a pathogenic strain of Vibrio parahaemolyticus in viable but nonculturable state. 61
15752342 2005
47
NADH-reductive stress in Saccharomyces cerevisiae induces the expression of the minor isoform of glyceraldehyde-3-phosphate dehydrogenase (TDH1). 61
14652693 2004
48
The urease gene cluster of Vibrio parahaemolyticus does not influence the expression of the thermostable direct hemolysin (TDH) gene or the TDH-related hemolysin gene. 61
12725294 2003
49
Optimal growth and ethanol production from xylose by recombinant Saccharomyces cerevisiae require moderate D-xylulokinase activity. 61
12514033 2003
50
Interaction of the GTS1 gene product with glyceraldehyde- 3-phosphate dehydrogenase 1 required for the maintenance of the metabolic oscillations of the yeast Saccharomyces cerevisiae. 61
12135496 2002

Variations for Thyroid Dyshormonogenesis 1

ClinVar genetic disease variations for Thyroid Dyshormonogenesis 1:

6 (show top 50) (show all 99)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC5A5 NM_000453.3(SLC5A5):c.1060A>C (p.Thr354Pro) SNV Pathogenic 7664 rs121909174 GRCh37: 19:17992770-17992770
GRCh38: 19:17881961-17881961
2 SLC5A5 NM_000453.3(SLC5A5):c.816C>A (p.Cys272Ter) SNV Pathogenic 7665 rs121909175 GRCh37: 19:17988649-17988649
GRCh38: 19:17877840-17877840
3 SLC5A5 NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu) SNV Pathogenic 7666 rs121909176 GRCh37: 19:17988632-17988632
GRCh38: 19:17877823-17877823
4 SLC5A5 NM_000453.3(SLC5A5):c.277G>C (p.Gly93Arg) SNV Pathogenic 7668 rs121909178 GRCh37: 19:17983405-17983405
GRCh38: 19:17872596-17872596
5 SLC5A5 NM_000453.3(SLC5A5):c.1628G>A (p.Gly543Glu) SNV Pathogenic 7669 rs121909179 GRCh37: 19:17999241-17999241
GRCh38: 19:17888432-17888432
6 SLC5A5 SLC5A5, EX3-7DEL Deletion Pathogenic 7671 GRCh37:
GRCh38:
7 SLC5A5 NM_000453.3(SLC5A5):c.152del (p.Gly51fs) Deletion Pathogenic 983276 GRCh37: 19:17983276-17983276
GRCh38: 19:17872467-17872467
8 SLC5A5 NM_000453.3(SLC5A5):c.1261G>A (p.Gly421Arg) SNV Pathogenic 983277 GRCh37: 19:17994508-17994508
GRCh38: 19:17883699-17883699
9 SLC5A5 NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg) SNV Pathogenic 7670 rs121909180 GRCh37: 19:17992969-17992969
GRCh38: 19:17882160-17882160
10 SLC5A5 NM_000453.3(SLC5A5):c.1593C>G (p.Tyr531Ter) SNV Pathogenic 7667 rs121909177 GRCh37: 19:17999206-17999206
GRCh38: 19:17888397-17888397
11 SLC5A5 NM_000453.3(SLC5A5):c.794A>G (p.Gln265Arg) SNV Likely pathogenic 917859 GRCh37: 19:17988627-17988627
GRCh38: 19:17877818-17877818
12 SLC5A5 NM_000453.3(SLC5A5):c.-54C>T SNV Conflicting interpretations of pathogenicity 803544 rs112077649 GRCh37: 19:17983075-17983075
GRCh38: 19:17872266-17872266
13 SLC5A5 NM_000453.3(SLC5A5):c.330C>T (p.Tyr110=) SNV Uncertain significance 328534 rs145238835 GRCh37: 19:17983458-17983458
GRCh38: 19:17872649-17872649
14 SLC5A5 NM_000453.3(SLC5A5):c.357+5C>T SNV Uncertain significance 328535 rs886054282 GRCh37: 19:17983490-17983490
GRCh38: 19:17872681-17872681
15 SLC5A5 NM_000453.3(SLC5A5):c.1224C>T (p.Leu408=) SNV Uncertain significance 328538 rs117626343 GRCh37: 19:17993010-17993010
GRCh38: 19:17882201-17882201
16 SLC5A5 NM_000453.3(SLC5A5):c.*256T>C SNV Uncertain significance 328552 rs527241494 GRCh37: 19:18004942-18004942
GRCh38: 19:17894133-17894133
17 SLC5A5 NM_000453.3(SLC5A5):c.*897C>T SNV Uncertain significance 328569 rs886054297 GRCh37: 19:18005583-18005583
GRCh38: 19:17894774-17894774
18 SLC5A5 NM_000453.3(SLC5A5):c.1058+8C>T SNV Uncertain significance 771215 rs189249326 GRCh37: 19:17991770-17991770
GRCh38: 19:17880961-17880961
19 SLC5A5 NM_000453.3(SLC5A5):c.1780C>T (p.Leu594Phe) SNV Uncertain significance 737639 rs140990171 GRCh37: 19:18004534-18004534
GRCh38: 19:17893725-17893725
20 SLC5A5 NM_000453.3(SLC5A5):c.839+11C>T SNV Uncertain significance 256200 rs182064161 GRCh37: 19:17988683-17988683
GRCh38: 19:17877874-17877874
21 SLC5A5 NM_000453.3(SLC5A5):c.-53C>T SNV Uncertain significance 328530 rs886054281 GRCh37: 19:17983076-17983076
GRCh38: 19:17872267-17872267
22 SLC5A5 NM_000453.3(SLC5A5):c.*14C>T SNV Uncertain significance 328544 rs185148597 GRCh37: 19:18004700-18004700
GRCh38: 19:17893891-17893891
23 SLC5A5 NM_000453.3(SLC5A5):c.*161C>T SNV Uncertain significance 328547 rs886054284 GRCh37: 19:18004847-18004847
GRCh38: 19:17894038-17894038
24 SLC5A5 NM_000453.3(SLC5A5):c.*575G>A SNV Uncertain significance 328564 rs528150801 GRCh37: 19:18005261-18005261
GRCh38: 19:17894452-17894452
25 SLC5A5 NM_000453.3(SLC5A5):c.*238C>A SNV Uncertain significance 328550 rs183947586 GRCh37: 19:18004924-18004924
GRCh38: 19:17894115-17894115
26 SLC5A5 NM_000453.3(SLC5A5):c.*826C>A SNV Uncertain significance 328567 rs886054296 GRCh37: 19:18005512-18005512
GRCh38: 19:17894703-17894703
27 SLC5A5 NM_000453.3(SLC5A5):c.*898G>A SNV Uncertain significance 328570 rs886054298 GRCh37: 19:18005584-18005584
GRCh38: 19:17894775-17894775
28 SLC5A5 NM_000453.3(SLC5A5):c.-184C>T SNV Uncertain significance 328527 rs534574809 GRCh37: 19:17982945-17982945
GRCh38: 19:17872136-17872136
29 SLC5A5 NM_000453.3(SLC5A5):c.252C>T (p.Gly84=) SNV Uncertain significance 328533 rs370383956 GRCh37: 19:17983380-17983380
GRCh38: 19:17872571-17872571
30 SLC5A5 NM_000453.3(SLC5A5):c.424-12C>A SNV Uncertain significance 328536 rs142231563 GRCh37: 19:17985291-17985291
GRCh38: 19:17874482-17874482
31 SLC5A5 NM_000453.3(SLC5A5):c.1314G>A (p.Pro438=) SNV Uncertain significance 328539 rs775752734 GRCh37: 19:17994561-17994561
GRCh38: 19:17883752-17883752
32 SLC5A5 NM_000453.3(SLC5A5):c.1632C>G (p.Ala544=) SNV Uncertain significance 328543 rs45531732 GRCh37: 19:17999245-17999245
GRCh38: 19:17888436-17888436
33 SLC5A5 NM_000453.3(SLC5A5):c.*130A>G SNV Uncertain significance 328545 rs532170177 GRCh37: 19:18004816-18004816
GRCh38: 19:17894007-17894007
34 SLC5A5 NM_000453.3(SLC5A5):c.*344C>T SNV Uncertain significance 328562 rs886054293 GRCh37: 19:18005030-18005030
GRCh38: 19:17894221-17894221
35 SLC5A5 NM_000453.3(SLC5A5):c.*606C>T SNV Uncertain significance 328565 rs886054295 GRCh37: 19:18005292-18005292
GRCh38: 19:17894483-17894483
36 SLC5A5 NM_000453.3(SLC5A5):c.1506C>G (p.Asn502Lys) SNV Uncertain significance 328540 rs757216908 GRCh37: 19:17994835-17994835
GRCh38: 19:17884026-17884026
37 SLC5A5 NM_000453.3(SLC5A5):c.*239C>G SNV Uncertain significance 328551 rs551427934 GRCh37: 19:18004925-18004925
GRCh38: 19:17894116-17894116
38 SLC5A5 NM_000453.3(SLC5A5):c.*830C>T SNV Uncertain significance 328568 rs138127009 GRCh37: 19:18005516-18005516
GRCh38: 19:17894707-17894707
39 SLC5A5 NM_000453.3(SLC5A5):c.*1217A>G SNV Uncertain significance 328571 rs886054299 GRCh37: 19:18005903-18005903
GRCh38: 19:17895094-17895094
40 SLC5A5 NM_000453.3(SLC5A5):c.-107C>A SNV Uncertain significance 328528 rs555308071 GRCh37: 19:17983022-17983022
GRCh38: 19:17872213-17872213
41 SLC5A5 NM_000453.3(SLC5A5):c.*339C>T SNV Uncertain significance 328560 rs886054291 GRCh37: 19:18005025-18005025
GRCh38: 19:17894216-17894216
42 SLC5A5 NM_000453.3(SLC5A5):c.663G>A (p.Thr221=) SNV Uncertain significance 328537 rs375564091 GRCh37: 19:17986880-17986880
GRCh38: 19:17876071-17876071
43 SLC5A5 NM_000453.3(SLC5A5):c.*136C>G SNV Uncertain significance 328546 rs886054283 GRCh37: 19:18004822-18004822
GRCh38: 19:17894013-17894013
44 SLC5A5 NM_000453.3(SLC5A5):c.*422C>G SNV Uncertain significance 328563 rs886054294 GRCh37: 19:18005108-18005108
GRCh38: 19:17894299-17894299
45 SLC5A5 NM_000453.3(SLC5A5):c.*277T>C SNV Uncertain significance 328558 rs148592461 GRCh37: 19:18004963-18004963
GRCh38: 19:17894154-17894154
46 SLC5A5 NM_000453.3(SLC5A5):c.*343T>C SNV Uncertain significance 328561 rs886054292 GRCh37: 19:18005029-18005029
GRCh38: 19:17894220-17894220
47 SLC5A5 NM_000453.3(SLC5A5):c.657G>A (p.Val219=) SNV Uncertain significance 889193 GRCh37: 19:17986874-17986874
GRCh38: 19:17876065-17876065
48 SLC5A5 NM_000453.3(SLC5A5):c.672G>A (p.Gln224=) SNV Uncertain significance 889194 GRCh37: 19:17986889-17986889
GRCh38: 19:17876080-17876080
49 SLC5A5 NM_000453.3(SLC5A5):c.686T>G (p.Ile229Ser) SNV Uncertain significance 889195 GRCh37: 19:17986903-17986903
GRCh38: 19:17876094-17876094
50 SLC5A5 NM_000453.3(SLC5A5):c.839+13G>A SNV Uncertain significance 889196 GRCh37: 19:17988685-17988685
GRCh38: 19:17877876-17877876

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Dyshormonogenesis 1:

72
# Symbol AA change Variation ID SNP ID
1 SLC5A5 p.Gly93Arg VAR_010263 rs121909178
2 SLC5A5 p.Gln267Glu VAR_010265 rs121909176
3 SLC5A5 p.Thr354Pro VAR_010266 rs121909174
4 SLC5A5 p.Gly395Arg VAR_010267 rs121909180
5 SLC5A5 p.Gly543Glu VAR_010269 rs121909179

Expression for Thyroid Dyshormonogenesis 1

Search GEO for disease gene expression data for Thyroid Dyshormonogenesis 1.

Pathways for Thyroid Dyshormonogenesis 1

GO Terms for Thyroid Dyshormonogenesis 1

Sources for Thyroid Dyshormonogenesis 1

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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