MCID: HYP257
MIFTS: 50

Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Nephrological diseases, Ear diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

MalaCards integrated aliases for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

Name: Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 57 12 75
Barakat Syndrome 57 12 53 59 75 29 6 40 73
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 57 53 13
Hypoparathyroidism-Deafness-Renal Disease Syndrome 12 59 15
Nephrosis, Nerve Deafness, and Hypoparathyroidism 57 53 75
Hdr Syndrome 12 53 59
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome 57 75
Nephrosis 44 73
Hdr 57 75
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome; Hdrs 57
Hypoparathyroidism with Sensorineural Deafness and Renal Dysplasia 37
Nephrotic Syndrome 73
Hdrs 57

Characteristics:

Orphanet epidemiological data:

59
hypoparathyroidism-deafness-renal disease syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypoparathyroidism, sensorineural deafness, and renal disease:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

NIH Rare Diseases : 53 Barakat syndrome, also known as HDR syndrome, is a rare, genetic syndrome characterized by hypoparathyroidism, sensorineural deafness, and renal (kidney) disease. However, specific symptoms and severity can vary. Not all people with Barakat syndrome have all three of these features, and some people with Barakat syndrome have additional features. Hypoparathyroidism leads to low levels of calcium in the blood (hypocalcemia), which can cause symptoms such as muscle pain, muscle spasms, seizures, and rarely, cardiomyopathy. Hearing loss is the most consistent feature of Barakat syndrome. It is usually bilateral and can range from moderate to profound. The type of kidney disease present can vary from person to person. For example, some people with Barakat syndrome are born with structural kidney or urinary tract abnormalities (underdeveloped or abnormally-formed), while others may have functional abnormalities (such as nephrotic syndrome, hematuria, renal tubular acidosis, or chronic kidney disease). Various additional features have been reported in some people with Barakat syndrome such as polycystic ovaries, distinctive facial features, ischemic stroke, retinitis pigmentosa, intellectual disability, growth failure, congenital heart disease, and other birth defects. Most cases of Barakat syndrome are caused by mutations in the GATA3 gene, or by a missing piece (deletion) of genetic material on chromosome 10 that includes the GATA3 gene. Inheritance is autosomal dominant. In some cases, the genetic cause is unknown. The diagnosis can often be made based on the signs and symptoms present and the family history, but in some cases, genetic testing may be needed to confirm the diagnosis. Treatment for Barakat syndrome depends on the symptoms present and the severity in each person. Hypocalcemia may be treated with oral calcium and calcitriol, intravenous calcium gluconate, or parathyroid hormone injection. Hearing loss may be treated with hearing amplification and/or cochlear implantation. Treatment of kidney disease depends on the abnormality present. Some minor abnormalities may not need to be treated while others may require medications, surgery, or kidney transplantation. The long-term outlook (prognosis) usually depends on the severity of kidney disease, and those with minor kidney problems have a normal life expectancy.

MalaCards based summary : Hypoparathyroidism, Sensorineural Deafness, and Renal Disease, also known as barakat syndrome, is related to lipoid nephrosis and pierson syndrome. An important gene associated with Hypoparathyroidism, Sensorineural Deafness, and Renal Disease is GATA3 (GATA Binding Protein 3), and among its related pathways/superpathways are Amoebiasis and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include kidney, heart and testes, and related phenotypes are diabetes mellitus and renal insufficiency

Disease Ontology : 12 A characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material basis in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.

UniProtKB/Swiss-Prot : 75 Hypoparathyroidism, sensorineural deafness, and renal disease: A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia.

Description from OMIM: 146255

Related Diseases for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Diseases related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 lipoid nephrosis 33.3 NPHS1 NPHS2
2 pierson syndrome 32.1 LAMB2 NPHS2
3 kidney disease 30.9 ACTN4 NPHS1 NPHS2
4 nephrotic syndrome, type 1 30.9 ACTN4 NPHS1 NPHS2
5 familial nephrotic syndrome 30.6 ACTN4 NPHS1 NPHS2
6 galloway-mowat syndrome 30.1 ACTN4 LAMB2 NPHS1 NPHS2
7 nephrotic syndrome 30.1 ACTN4 LAMB2 NPHS1 NPHS2
8 glomerulonephritis 29.4 NPHS1 NPHS2
9 membranous nephropathy 29.3 NPHS1 NPHS2
10 iga glomerulonephritis 29.3 NPHS1 NPHS2
11 focal segmental glomerulosclerosis 1 29.3 ACTN4 NPHS1 NPHS2
12 chronic kidney failure 28.5 ACTN4 NPHS1 NPHS2
13 focal segmental glomerulosclerosis 28.3 ACTN4 LAMB2 NPHS1 NPHS2
14 nephrosis with deafness and urinary tract and digital malformations 12.0
15 pulmonic stenosis and congenital nephrosis 11.9
16 ventriculomegaly with cystic kidney disease 11.5
17 daentl towsend siegel syndrome 11.5
18 galloway-mowat syndrome 1 11.1
19 congenital nephrotic syndrome finnish type 11.1
20 focal segmental glomerulosclerosis 4 10.8
21 hypoparathyroidism 10.2
22 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.1 NPHS1 NPHS2
23 hepatitis 10.1
24 endotheliitis 10.1
25 atrial septal defect 3 10.1 NPHS1 NPHS2
26 chronic interstitial cystitis 10.1
27 kidney hypertrophy 10.1 NPHS1 NPHS2
28 squamous cell carcinoma 10.1
29 renal hypodysplasia/aplasia 1 10.0
30 ecthyma 10.0 GATA3 LAMB2
31 denys-drash syndrome 10.0 NPHS1 NPHS2
32 aging 10.0
33 hirschsprung disease 1 10.0
34 renal tubular acidosis 10.0
35 hypothyroidism 10.0
36 chromophobe renal cell carcinoma 9.9
37 renal oncocytoma 9.9
38 polycystic kidney disease 9.9
39 end stage renal failure 9.9 NPHS1 NPHS2
40 thrombosis 9.9
41 anuria 9.9
42 hemoglobinemia 9.9
43 urinary system disease 9.9 NPHS1 NPHS2
44 microcoria, congenital 9.8
45 interstitial nephritis 9.8
46 cerebritis 9.8
47 peritonitis 9.8
48 prostatitis 9.8
49 uremia 9.8
50 bronchitis 9.8

Graphical network of the top 20 diseases related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:



Diseases related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Symptoms & Phenotypes for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
hypoparathyroidism

Head And Neck Ears:
deafness, sensorineural

Genitourinary Kidneys:
renal dysplasia
renal agenesis, unilateral (in some patients)
nephrosis
progressive renal failure

Genitourinary Internal Genitalia Female:
septate uterus (rare)
uterus didelphys (rare)
uterine agenesis (rare)
septate vagina (rare)
vaginal agenesis (rare)


Clinical features from OMIM:

146255

Human phenotypes related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
2 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
3 cleft palate 59 32 very rare (1%) Very rare (<4-1%) HP:0000175
4 hypoparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0000829
5 polycystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000113
6 vesicoureteral reflux 59 32 frequent (33%) Frequent (79-30%) HP:0000076
7 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
8 severe postnatal growth retardation 59 32 very rare (1%) Very rare (<4-1%) HP:0008850
9 unilateral renal agenesis 59 32 frequent (33%) Frequent (79-30%) HP:0000122
10 rod-cone dystrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0000510
11 aplasia of the uterus 59 32 very rare (1%) Very rare (<4-1%) HP:0000151
12 renal dysplasia 59 32 obligate (100%) Obligate (100%) HP:0000110
13 uterus didelphys 59 32 occasional (7.5%) Occasional (29-5%) HP:0003762
14 abnormal heart morphology 59 32 very rare (1%) Very rare (<4-1%) HP:0001627
15 vaginal atresia 59 32 very rare (1%) Very rare (<4-1%) HP:0000148
16 progressive sensorineural hearing impairment 59 32 obligate (100%) Obligate (100%) HP:0000408
17 septate vagina 59 32 occasional (7.5%) Occasional (29-5%) HP:0001153
18 parathyroid hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000860
19 hypocalcemic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002199
20 psoriasiform dermatitis 59 32 very rare (1%) Very rare (<4-1%) HP:0003765
21 sensorineural hearing impairment 32 HP:0000407
22 nephrotic syndrome 32 HP:0000100
23 hypocalcemia 59 Frequent (79-30%)
24 primary t-lymphocyte immune abnormalities 59 Very rare (<4-1%)
25 chronic kidney disease 32 HP:0012622
26 thickening of the glomerular basement membrane 32 HP:0004722
27 abnormality of t cell physiology 32 very rare (1%) HP:0011840

MGI Mouse Phenotypes related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 ACTN4 DGCR2 GATA3 LAMB2 NPHS1 NPHS2
2 renal/urinary system MP:0005367 9.02 ACTN4 GATA3 LAMB2 NPHS1 NPHS2

Drugs & Therapeutics for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Genetic Tests for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Genetic tests related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

# Genetic test Affiliating Genes
1 Barakat Syndrome 29 GATA3

Anatomical Context for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

MalaCards organs/tissues related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

41
Kidney, Heart, Testes, Ovary, Uterus, T Cells

Publications for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Articles related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

# Title Authors Year
1
Seizure, deafness, and renal failure: a case of barakat syndrome. ( 24527244 )
2013
2
Seizure, deafness and renal agenesis: A rare case of barakat syndrome. ( 23661972 )
2013
3
HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease. ( 23056694 )
2010
4
Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome. ( 18426329 )
2008
5
HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities. ( 18520110 )
2008

Variations for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

UniProtKB/Swiss-Prot genetic disease variations for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

75
# Symbol AA change Variation ID SNP ID
1 GATA3 p.Trp274Arg VAR_017818 rs104894163
2 GATA3 p.Arg298Gln VAR_075427

ClinVar genetic disease variations for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

6
(show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA3 GATA3, 900-KB DEL deletion Pathogenic
2 GATA3 GATA3, 250-KB DEL deletion Pathogenic
3 GATA3 GATA3, 49-BP DEL, NT465-513 deletion Pathogenic
4 GATA3 GATA3, 12-BP DEL, NT946-957 deletion Pathogenic
5 GATA3 NM_001002295.1(GATA3): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs104894162 GRCh37 Chromosome 10, 8106006: 8106006
6 GATA3 NM_001002295.1(GATA3): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs104894162 GRCh38 Chromosome 10, 8064043: 8064043
7 GATA3 NM_001002295.1(GATA3): c.823T> A (p.Trp275Arg) single nucleotide variant Pathogenic rs104894163 GRCh37 Chromosome 10, 8106000: 8106000
8 GATA3 NM_001002295.1(GATA3): c.823T> A (p.Trp275Arg) single nucleotide variant Pathogenic rs104894163 GRCh38 Chromosome 10, 8064037: 8064037
9 GATA3 GATA3, 2-BP INS, 3-BP INS insertion Pathogenic
10 GATA3 NM_001002295.1(GATA3): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs104894164 GRCh37 Chromosome 10, 8115750: 8115750
11 GATA3 NM_001002295.1(GATA3): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs104894164 GRCh38 Chromosome 10, 8073787: 8073787
12 GATA3 GATA3, 1-BP DEL, 431G deletion Pathogenic
13 GATA3 GATA3, 1-BP DEL, 478G deletion Pathogenic
14 GATA3 NM_001002295.1(GATA3): c.924+2delTinsGCTTACTTCCC indel Pathogenic rs387906551 GRCh37 Chromosome 10, 8106103: 8106103
15 GATA3 NM_001002295.1(GATA3): c.924+2delTinsGCTTACTTCCC indel Pathogenic rs387906551 GRCh38 Chromosome 10, 8064140: 8064140
16 GATA3 NM_001002295.1(GATA3): c.1059A> T (p.Arg353Ser) single nucleotide variant Pathogenic rs104894165 GRCh37 Chromosome 10, 8115710: 8115710
17 GATA3 NM_001002295.1(GATA3): c.1059A> T (p.Arg353Ser) single nucleotide variant Pathogenic rs104894165 GRCh38 Chromosome 10, 8073747: 8073747
18 GATA3 GATA3, 2-BP DEL, 108GG deletion Pathogenic
19 GATA3 NM_001002295.1(GATA3): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs387906621 GRCh37 Chromosome 10, 8111536: 8111536
20 GATA3 NM_001002295.1(GATA3): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs387906621 GRCh38 Chromosome 10, 8069573: 8069573
21 GATA3 NM_001002295.1(GATA3) insertion Pathogenic rs878853222 GRCh37 Chromosome 10, 8100707: 8100708
22 GATA3 NM_001002295.1(GATA3) insertion Pathogenic rs878853222 GRCh38 Chromosome 10, 8058744: 8058745
23 GATA3 NM_001002295.1(GATA3): c.606T> C (p.Arg202=) single nucleotide variant Benign rs2228254 GRCh37 Chromosome 10, 8100632: 8100632
24 GATA3 NM_001002295.1(GATA3): c.606T> C (p.Arg202=) single nucleotide variant Benign rs2228254 GRCh38 Chromosome 10, 8058669: 8058669
25 GATA3 NM_001002295.1(GATA3): c.621C> T (p.Ala207=) single nucleotide variant Benign rs2229359 GRCh37 Chromosome 10, 8100647: 8100647
26 GATA3 NM_001002295.1(GATA3): c.621C> T (p.Ala207=) single nucleotide variant Benign rs2229359 GRCh38 Chromosome 10, 8058684: 8058684
27 GATA3 NM_001002295.1(GATA3): c.1257G> A (p.Thr419=) single nucleotide variant Benign/Likely benign rs11567941 GRCh38 Chromosome 10, 8073945: 8073945
28 GATA3 NM_001002295.1(GATA3): c.1257G> A (p.Thr419=) single nucleotide variant Benign/Likely benign rs11567941 GRCh37 Chromosome 10, 8115908: 8115908
29 GATA3 NM_001002295.1(GATA3): c.-503_-502dupAA duplication Uncertain significance rs60098638 GRCh38 Chromosome 10, 8054758: 8054759
30 GATA3 NM_001002295.1(GATA3): c.-503_-502dupAA duplication Uncertain significance rs60098638 GRCh37 Chromosome 10, 8096721: 8096722
31 GATA3 NM_001002295.1(GATA3): c.72G> A (p.Pro24=) single nucleotide variant Likely benign rs202168967 GRCh38 Chromosome 10, 8055727: 8055727
32 GATA3 NM_001002295.1(GATA3): c.480C> G (p.Asp160Glu) single nucleotide variant Likely benign rs143627754 GRCh37 Chromosome 10, 8100506: 8100506
33 GATA3 NM_001002295.1(GATA3): c.-369-11C> T single nucleotide variant Uncertain significance rs886047297 GRCh38 Chromosome 10, 8055276: 8055276
34 GATA3 NM_001002295.1(GATA3): c.-369-11C> T single nucleotide variant Uncertain significance rs886047297 GRCh37 Chromosome 10, 8097239: 8097239
35 GATA3 NM_001002295.1(GATA3): c.-287G> A single nucleotide variant Uncertain significance rs886047298 GRCh38 Chromosome 10, 8055369: 8055369
36 GATA3 NM_001002295.1(GATA3): c.-287G> A single nucleotide variant Uncertain significance rs886047298 GRCh37 Chromosome 10, 8097332: 8097332
37 GATA3 NM_001002295.1(GATA3): c.-148A> G single nucleotide variant Uncertain significance rs886047299 GRCh37 Chromosome 10, 8097471: 8097471
38 GATA3 NM_001002295.1(GATA3): c.-148A> G single nucleotide variant Uncertain significance rs886047299 GRCh38 Chromosome 10, 8055508: 8055508
39 GATA3 NM_001002295.1(GATA3): c.-49C> T single nucleotide variant Benign/Likely benign rs11567942 GRCh37 Chromosome 10, 8097570: 8097570
40 GATA3 NM_001002295.1(GATA3): c.-49C> T single nucleotide variant Benign/Likely benign rs11567942 GRCh38 Chromosome 10, 8055607: 8055607
41 GATA3 NM_001002295.1(GATA3): c.72G> A (p.Pro24=) single nucleotide variant Likely benign rs202168967 GRCh37 Chromosome 10, 8097690: 8097690
42 GATA3 NM_001002295.1(GATA3): c.480C> G (p.Asp160Glu) single nucleotide variant Likely benign rs143627754 GRCh38 Chromosome 10, 8058543: 8058543
43 GATA3 NM_001002295.1(GATA3): c.706C> G (p.Pro236Ala) single nucleotide variant Likely benign rs148835259 GRCh37 Chromosome 10, 8100732: 8100732
44 GATA3 NM_001002295.1(GATA3): c.706C> G (p.Pro236Ala) single nucleotide variant Likely benign rs148835259 GRCh38 Chromosome 10, 8058769: 8058769
45 GATA3 NM_001002295.1(GATA3): c.1179C> T (p.Asn393=) single nucleotide variant Likely benign rs138679257 GRCh37 Chromosome 10, 8115830: 8115830
46 GATA3 NM_001002295.1(GATA3): c.1179C> T (p.Asn393=) single nucleotide variant Likely benign rs138679257 GRCh38 Chromosome 10, 8073867: 8073867
47 GATA3 NM_001002295.1(GATA3): c.1223C> T (p.Ser408Leu) single nucleotide variant Uncertain significance rs752977342 GRCh37 Chromosome 10, 8115874: 8115874
48 GATA3 NM_001002295.1(GATA3): c.1223C> T (p.Ser408Leu) single nucleotide variant Uncertain significance rs752977342 GRCh38 Chromosome 10, 8073911: 8073911
49 GATA3 NM_001002295.1(GATA3): c.*105A> G single nucleotide variant Uncertain significance rs886047300 GRCh37 Chromosome 10, 8116091: 8116091
50 GATA3 NM_001002295.1(GATA3): c.*105A> G single nucleotide variant Uncertain significance rs886047300 GRCh38 Chromosome 10, 8074128: 8074128

Copy number variations for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 38190 10 1 6700000 Microdeletion Barakat syndrome

Expression for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Search GEO for disease gene expression data for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease.

Pathways for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Pathways related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.24 ACTN4 LAMB2
2 10.79 ACTN4 LAMB2 NPHS1 NPHS2
3 10.57 NPHS1 NPHS2
4 10.3 ACTN4 NPHS1

GO Terms for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Cellular components related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 slit diaphragm GO:0036057 8.62 NPHS1 NPHS2

Biological processes related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.43 DGCR2 LAMB2 NPHS1
2 animal organ morphogenesis GO:0009887 9.32 DGCR2 GATA3
3 excretion GO:0007588 9.16 NPHS1 NPHS2
4 axon guidance GO:0007411 9.13 GATA3 LAMB2 NPHS1
5 metanephric glomerular visceral epithelial cell development GO:0072249 8.62 LAMB2 NPHS2

Molecular functions related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.62 ACTN4 LAMB2

Sources for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

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