MCID: GLL032
MIFTS: 46

Galloway-Mowat Syndrome

Categories: Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Galloway-Mowat Syndrome

MalaCards integrated aliases for Galloway-Mowat Syndrome:

Name: Galloway-Mowat Syndrome 12 20 58 36 29 6 15 39
Galloway Mowat Syndrome 74 20 44 71
Microcephaly Nephrosis Syndrome 20 6
Galloway Syndrome 20 58
Microcephaly, Hiatal Hernia, and Nephrotic Syndrome 20
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type 20
Microcephaly-Hiatus Hernia-Nephrotic Syndrome 58
Nephrosis-Neuronal Dysmigration Syndrome 58
Nephrosis Neuronal Dysmigration Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
galloway-mowat syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Galloway-Mowat Syndrome

KEGG : 36 Galloway-Mowat Syndrome (GAMOS) is an autosomal recessively inherited condition characterized by the association of nephrotic syndrome and central nervous system involvement. Several case reports and studies on small series describing the clinical and histopathological features of GAMOS have revealed the clinical heterogeneity of this condition. The consistent morphological hallmark is microcephaly, which is often present at birth (primary microcephaly) but might also develop postnatally (secondary microcephaly). Major brain abnormalities include cerebral atrophy and neural-migration defects, such as agyria, microgyria, or polymicrogyria. These structural brain abnormalities are associated with severe psychomotor impairment, hypotonia, and seizures in half of all cases. The nephrotic syndrome occurs in the first four months of life with an average of three months, and a congenital nephrotic syndrome has rarely been described. This nephrotic syndrome is steroid-resistant and associated with a constant and rapid deterioration of renal function. Death usually occurs within few years from the onset. Very recently, several genes have been identified as the cause of GAMOS.

MalaCards based summary : Galloway-Mowat Syndrome, also known as galloway mowat syndrome, is related to galloway-mowat syndrome 3 and galloway-mowat syndrome 1. An important gene associated with Galloway-Mowat Syndrome is WDR73 (WD Repeat Domain 73), and among its related pathways/superpathways are tRNA processing and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include brain, kidney and eye, and related phenotypes are global developmental delay and microcephaly

Disease Ontology : 12 A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy.

GARD : 20 Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability. Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible. Affected children often do not survive beyond the first few years of life. Treatment is aimed at the specific signs and symptoms present in each individual.

Wikipedia : 74 Galloway Mowat syndrome is a very rare autosomal recessive genetic disorder, consisting of a variety of... more...

Related Diseases for Galloway-Mowat Syndrome

Diseases in the Galloway-Mowat Syndrome family:

Galloway-Mowat Syndrome 1 Galloway-Mowat Syndrome 3
Galloway-Mowat Syndrome 4 Galloway-Mowat Syndrome 5
Galloway-Mowat Syndrome 6 Galloway-Mowat Syndrome 7
Galloway-Mowat Syndrome 8 Galloway-Mowat Syndrome 2

Diseases related to Galloway-Mowat Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 galloway-mowat syndrome 3 33.4 OSGEP LOC107372315
2 galloway-mowat syndrome 1 33.3 ZNF592 WDR73 WDR4 TPRKB LAGE3 GON7
3 galloway-mowat syndrome 2 32.9 WDR73 TPRKB TP53RK OSGEP LAGE3 GON7
4 nephrotic syndrome 31.6 WDR73 SYNPO NUP133 NUP107 NPHS2 NPHS1
5 microcephaly 31.5 WDR73 WDR4 TPRKB TP53RK OSGEP NUP133
6 proteinuria, chronic benign 31.2 SYNPO NPHS2 NPHS1 ACTN4
7 spinocerebellar ataxia autosomal recessive 5 31.2 ZNF592 WDR73
8 focal segmental glomerulosclerosis 31.1 SYNPO PTPRU NUP107 NPHS2 NPHS1 ACTN4
9 familial nephrotic syndrome 30.9 SYNPO NPHS2 NPHS1 ACTN4
10 nephrotic syndrome, type 2 30.7 NPHS2 NPHS1 ACTN4
11 primary microcephaly 30.7 TPRKB TP53RK OSGEP LAGE3
12 pierson syndrome 30.7 NPHS2 NPHS1 LAMA5 ACTN4
13 diffuse mesangial sclerosis 30.6 NPHS2 NPHS1
14 end stage renal disease 30.2 NPHS2 NPHS1 ACTN4
15 galloway-mowat syndrome 5 11.9
16 galloway-mowat syndrome 4 11.9
17 galloway-mowat syndrome 2, x-linked 11.8
18 galloway-mowat syndrome 6 11.8
19 galloway-mowat syndrome 7 11.8
20 galloway-mowat syndrome 8 11.8
21 polymicrogyria 11.3
22 autosomal recessive disease 10.7
23 hernia, hiatus 10.5
24 genetic nephrotic syndrome 10.4 NPHS2 NPHS1
25 oligomeganephronia 10.4 NPHS2 NPHS1 ACTN4
26 focal segmental glomerulosclerosis 2 10.4 NPHS2 NPHS1 ACTN4
27 alacrima, achalasia, and mental retardation syndrome 10.4
28 pathologic nystagmus 10.4
29 hypotonia 10.4
30 stromme syndrome 10.4 NUP133 NUP107
31 bladder calculus 10.4 WDR73 TPRKB TP53RK OSGEP LAGE3
32 nephrotic syndrome, type 1 10.4 NPHS2 NPHS1 ACTN4
33 lower urinary tract calculus 10.4 WDR73 TPRKB TP53RK OSGEP LAGE3
34 kidney hypertrophy 10.4 SYNPO NPHS2 NPHS1
35 congenital syphilis 10.3 NPHS2 NPHS1
36 focal segmental glomerulosclerosis 1 10.3 NUP107 NPHS2 NPHS1 ACTN4
37 hypoparathyroidism, sensorineural deafness, and renal disease 10.3 NPHS2 NPHS1 ACTN4
38 acute proliferative glomerulonephritis 10.3 SYNPO NPHS2 NPHS1
39 crescentic glomerulonephritis 10.3 SYNPO NPHS2 ACTN4
40 lipoid nephrosis 10.3 SYNPO NPHS2 NPHS1 ACTN4
41 frasier syndrome 10.3 WDR73 NUP107 NPHS2 NPHS1 ACTN4
42 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.3 NPHS2 NPHS1 ACTN4
43 nephrosclerosis 10.3 SYNPO NPHS2 NPHS1
44 nephrotic syndrome, type 10 10.3 NPHS2 NPHS1
45 lissencephaly 10.3 WDR4 TPRKB OSGEP NUP133 LAGE3
46 nail-patella syndrome 10.3 WDR73 SYNPO NPHS2 NPHS1 ACTN4
47 denys-drash syndrome 10.3 SYNPO NUP107 NPHS2 NPHS1 ACTN4
48 3-methylglutaconic aciduria, type iii 10.3
49 oligohydramnios 10.3
50 hypothyroidism 10.3

Graphical network of the top 20 diseases related to Galloway-Mowat Syndrome:



Diseases related to Galloway-Mowat Syndrome

Symptoms & Phenotypes for Galloway-Mowat Syndrome

Human phenotypes related to Galloway-Mowat Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
4 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
5 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
6 nephrotic syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0000100
7 hypoplasia of the ear cartilage 58 31 hallmark (90%) Very frequent (99-80%) HP:0100720
8 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
9 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
11 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
12 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
13 pachygyria 58 31 frequent (33%) Frequent (79-30%) HP:0001302
14 hiatus hernia 58 31 frequent (33%) Frequent (79-30%) HP:0002036
15 seizure 31 frequent (33%) HP:0001250
16 aqueductal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002410
17 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
18 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
19 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
20 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
21 abnormality of immune system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010978
22 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
23 adducted thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001181
24 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
25 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
26 abnormality of the intervertebral disk 58 31 occasional (7.5%) Occasional (29-5%) HP:0005108
27 hypotonia 31 occasional (7.5%) HP:0001252
28 seizures 58 Frequent (79-30%)
29 muscular hypotonia 58 Occasional (29-5%)
30 abnormality of neuronal migration 58 Frequent (79-30%)

Drugs & Therapeutics for Galloway-Mowat Syndrome

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome

Cochrane evidence based reviews: galloway mowat syndrome

Genetic Tests for Galloway-Mowat Syndrome

Genetic tests related to Galloway-Mowat Syndrome:

# Genetic test Affiliating Genes
1 Galloway-Mowat Syndrome 29

Anatomical Context for Galloway-Mowat Syndrome

MalaCards organs/tissues related to Galloway-Mowat Syndrome:

40
Brain, Kidney, Eye, Skin

Publications for Galloway-Mowat Syndrome

Articles related to Galloway-Mowat Syndrome:

(show top 50) (show all 63)
# Title Authors PMID Year
1
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. 6 61
26123727 2015
2
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. 61 6
26070982 2015
3
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. 6 61
25873735 2015
4
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. 61 6
25466283 2014
5
Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. 6 61
16217710 2005
6
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. 6
20531441 2010
7
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. 6
12030328 2002
8
New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. 6
11391656 2001
9
Crystal structure of the human PRPK-TPRKB complex. 61
33547416 2021
10
A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs. 61
33548032 2021
11
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. 61
33593823 2021
12
A substrate binding model for the KEOPS tRNA modifying complex. 61
33277478 2020
13
Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series. 61
31655822 2020
14
Fetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant. 61
31564459 2019
15
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. 61
31481669 2019
16
WDR73-related galloway mowat syndrome with collapsing glomerulopathy. 61
30315938 2019
17
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature. 61
30975089 2019
18
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. 61
30558655 2018
19
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. 61
30427554 2018
20
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. 61
30079490 2018
21
Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations. 61
30141175 2018
22
A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. 61
30053862 2018
23
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. 61
29929488 2018
24
Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome. 61
28890537 2017
25
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 61
28805828 2017
26
Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent. 61
28937085 2017
27
An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway. 61
28720660 2017
28
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. 61
28280135 2017
29
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. 61
27983999 2017
30
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. 61
27001912 2016
31
Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. 61
27403357 2016
32
Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. 61
22144119 2012
33
Galloway-Mowat syndrome: neurologic features in two sibling pairs. 61
22759691 2012
34
Diffuse mesangial sclerosis - Report of two cases. 61
23087559 2012
35
Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report. 61
24829636 2012
36
Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings. 61
21791310 2011
37
Neuropathological homology in true Galloway-Mowat syndrome. 61
21233460 2011
38
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. 61
20083416 2010
39
Recurrence of Galloway Mowat syndrome and associated prenatal imaging findings. 61
19177459 2009
40
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. 61
18594871 2008
41
Galloway-Mowat syndrome. 61
18798594 2008
42
Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. 61
18276083 2008
43
Anesthetic management of a patient with Galloway-Mowat syndrome. 61
17897280 2007
44
Perinatal imaging findings of Galloway-Mowat syndrome. 61
18019379 2007
45
Recurrent Galloway Mowat syndrome associated with abnormal prenatal sonographic findings. 61
16719284 2006
46
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome. 61
15966048 2005
47
Late-onset growth restriction in Galloway-Mowat syndrome: a case report. 61
15712336 2005
48
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. 61
15372515 2004
49
Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. 61
12693786 2003
50
Podocyte proteins in Galloway-Mowat syndrome. 61
11793093 2001

Variations for Galloway-Mowat Syndrome

ClinVar genetic disease variations for Galloway-Mowat Syndrome:

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WDR73 NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) SNV Pathogenic 208465 rs797044992 15:85188882-85188882 15:84645651-84645651
2 WDR73 NM_032856.3(WDR73):c.400_401delAG (p.Trp136Alafs) Microsatellite Pathogenic 208466 rs767086146 15:85189531-85189532 15:84646300-84646301
3 WDR73 NM_032856.5(WDR73):c.1039C>T (p.His347Tyr) SNV Pathogenic 208467 rs754099015 15:85186799-85186799 15:84643568-84643568
4 WDR73 NM_032856.5(WDR73):c.68T>A (p.Leu23Gln) SNV Pathogenic 208468 rs797044993 15:85196904-85196904 15:84653673-84653673
5 WDR73 NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) SNV Pathogenic 208469 rs797044994 15:85186898-85186898 15:84643667-84643667
6 WDR73 NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) SNV Pathogenic 208470 rs797044995 15:85191768-85191768 15:84648537-84648537
7 WDR73 NM_032856.5(WDR73):c.888del (p.Phe296fs) Deletion Pathogenic 225244 rs869320712 15:85186950-85186950 15:84643719-84643719
8 WDR73 NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter) SNV Pathogenic 162610 rs727502863 15:85196014-85196014 15:84652783-84652783
9 WDR73 NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) Duplication Pathogenic 807718 rs1596050297 15:85188865-85188866 15:84645634-84645635
10 WDR73 NM_032856.5(WDR73):c.766dup (p.Arg256fs) Duplication Pathogenic/Likely pathogenic 162611 rs727502864 15:85188818-85188819 15:84645587-84645588
11 WDR73 NM_032856.5(WDR73):c.293T>C (p.Leu98Pro) SNV Likely pathogenic 242543 rs863223396 15:85191180-85191180 15:84647949-84647949
12 WDR73 NM_032856.5(WDR73):c.767G>A (p.Arg256Gln) SNV Likely pathogenic 635182 rs866551482 15:85188818-85188818 15:84645587-84645587
13 WDR73 NM_032856.5(WDR73):c.710dup (p.Gly238fs) Duplication Likely pathogenic 803115 rs1282630153 15:85188874-85188875 15:84645643-84645644
14 WDR73 NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) SNV Likely pathogenic 804250 rs1596048227 15:85186954-85186954 15:84643723-84643723
15 WDR4 NM_018669.6(WDR4):c.454-2A>C SNV Likely pathogenic 619605 rs779449710 21:44282506-44282506 21:42862396-42862396
16 ZNF592 NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg) SNV Uncertain significance 4 rs150829393 15:85342440-85342440 15:84799209-84799209
17 ZNF592 NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile) SNV Uncertain significance 548552 rs1211858750 15:85341700-85341700 15:84798469-84798469
18 ZNF592 NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp) SNV Uncertain significance 587477 rs746252249 15:85328067-85328067 15:84784836-84784836
19 WDR73 NM_032856.5(WDR73):c.926_943ATGGAACACGGAGCCAAG[1] (p.309_314DGTRSQ[1]) Microsatellite Benign 803114 rs11267906 15:85186877-85186894 15:84643646-84643663
20 ZNF592 NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) SNV Benign 130839 rs2241645 15:85333953-85333953 15:84790722-84790722
21 ZNF592 NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) SNV Benign 130840 rs8182086 15:85341859-85341859 15:84798628-84798628
22 ENG NM_000118.3(ENG):c.392C>T (p.Pro131Leu) SNV Benign 161232 rs139398993 9:130588920-130588920 9:127826641-127826641

Expression for Galloway-Mowat Syndrome

Search GEO for disease gene expression data for Galloway-Mowat Syndrome.

Pathways for Galloway-Mowat Syndrome

GO Terms for Galloway-Mowat Syndrome

Cellular components related to Galloway-Mowat Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear pore outer ring GO:0031080 9.16 NUP133 NUP107
2 EKC/KEOPS complex GO:0000408 9.1 TPRKB TP53RK OSGEPL1 OSGEP LAGE3 GON7
3 slit diaphragm GO:0036057 8.96 NPHS2 NPHS1

Biological processes related to Galloway-Mowat Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nephron development GO:0072006 9.26 NUP133 NUP107
2 tRNA threonylcarbamoyladenosine metabolic process GO:0070525 9.16 TP53RK LAGE3
3 tRNA threonylcarbamoyladenosine modification GO:0002949 9.13 TPRKB OSGEPL1 OSGEP
4 tRNA processing GO:0008033 9.1 WDR4 TPRKB TP53RK OSGEPL1 OSGEP LAGE3

Molecular functions related to Galloway-Mowat Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of nuclear pore GO:0017056 9.16 NUP133 NUP107
2 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 8.96 OSGEPL1 OSGEP
3 N(6)-L-threonylcarbamoyladenine synthase activity GO:0061711 8.62 OSGEPL1 OSGEP

Sources for Galloway-Mowat Syndrome

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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