HGPPS
MCID: HRZ002
MIFTS: 37

Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS)

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

Aliases & Classifications for Horizontal Gaze Palsy with Progressive Scoliosis

MalaCards integrated aliases for Horizontal Gaze Palsy with Progressive Scoliosis:

Name: Horizontal Gaze Palsy with Progressive Scoliosis 20 43 58 36
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 20 43 29 39 70
Hgpps 20 43 58
Progressive External Ophthalmoplegia and Scoliosis 20 58
Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze 43
Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy 43
Familial Horizontal Gaze Palsy with Progressive Scoliosis 43
Ophthalmoplegia, Progressive External, and Scoliosis 43
Gaze Palsy, Horizontal, with Progressive Scoliosis 20

Characteristics:

Orphanet epidemiological data:

58
horizontal gaze palsy with progressive scoliosis
Age of onset: Adolescent,Childhood;

Classifications:

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


External Ids:

KEGG 36 H02450
ICD10 via Orphanet 33 H49.4
UMLS via Orphanet 71 C1846496
Orphanet 58 ORPHA2744
UMLS 70 C1846496

Summaries for Horizontal Gaze Palsy with Progressive Scoliosis

MedlinePlus Genetics : 43 Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally). As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. Up-and-down (vertical) eye movements are typically normal.In people with HGPPS, an abnormal side-to-side curvature of the spine develops in infancy or childhood. It tends to be moderate to severe and worsens over time. Because the abnormal spine position can be painful and interfere with movement, it is often treated with surgery early in life.

MalaCards based summary : Horizontal Gaze Palsy with Progressive Scoliosis, also known as gaze palsy, familial horizontal, with progressive scoliosis, is related to scoliosis and gaze palsy, familial horizontal, with progressive scoliosis 1. An important gene associated with Horizontal Gaze Palsy with Progressive Scoliosis is ROBO3 (Roundabout Guidance Receptor 3), and among its related pathways/superpathways is Axon guidance. Affiliated tissues include eye and pons, and related phenotypes are scoliosis and kyphosis

GARD : 20 Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine ( scoliosis ). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects. Scoliosis develops in infancy or childhood and worsens over time. Scoliosis can be painful and may interfere with movement so it is often treated with surgery early in life. HGPPS is caused by changes ( mutations ) in the ROBO3 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

KEGG : 36 Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterized by congenital absence of horizontal conjugate eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations in the axon guidance molecule ROBO3. Recently, it has been reported that mutations in DCC cause the syndrome with combined features of agenesis of the corpus callosum and HGPPS.

Related Diseases for Horizontal Gaze Palsy with Progressive Scoliosis

Graphical network of the top 20 diseases related to Horizontal Gaze Palsy with Progressive Scoliosis:



Diseases related to Horizontal Gaze Palsy with Progressive Scoliosis

Symptoms & Phenotypes for Horizontal Gaze Palsy with Progressive Scoliosis

Human phenotypes related to Horizontal Gaze Palsy with Progressive Scoliosis:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
3 horizontal supranuclear gaze palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007817
4 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
5 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
6 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
7 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
8 seizure 31 occasional (7.5%) HP:0001250
9 seizures 58 Occasional (29-5%)

Drugs & Therapeutics for Horizontal Gaze Palsy with Progressive Scoliosis

Search Clinical Trials , NIH Clinical Center for Horizontal Gaze Palsy with Progressive Scoliosis

Genetic Tests for Horizontal Gaze Palsy with Progressive Scoliosis

Genetic tests related to Horizontal Gaze Palsy with Progressive Scoliosis:

# Genetic test Affiliating Genes
1 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 29

Anatomical Context for Horizontal Gaze Palsy with Progressive Scoliosis

MalaCards organs/tissues related to Horizontal Gaze Palsy with Progressive Scoliosis:

40
Eye, Pons

Publications for Horizontal Gaze Palsy with Progressive Scoliosis

Articles related to Horizontal Gaze Palsy with Progressive Scoliosis:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case. 6 61
29215389 2018
2
Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis. 61 6
24969490 2014
3
Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis. 61 6
19633821 2009
4
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. 6 61
16525029 2006
5
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. 61 6
15105459 2004
6
Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations. 6
28024310 2017
7
Horizontal gaze palsy and progressive scoliosis in a patient with congenital esotropia and inability to abduct. A case report. 6
27318526 2016
8
Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. 6
18829051 2009
9
Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu). 6
19041479 2008
10
Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing. 6
16772357 2006
11
Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family. 61
32705527 2021
12
A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development. 61
33141514 2021
13
Horizontal Gaze Palsy, Scoliosis, and Split Pons Sign in a 6-Year-Old Girl. 61
33136675 2020
14
Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review. 61
32580277 2020
15
Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases. 61
32373565 2020
16
Horizontal Gaze Palsy with Progressive Scoliosis: A Case Report and Literature Review. 61
31741681 2019
17
Teaching Video NeuroImages: Horizontal gaze palsy with progressive scoliosis. 61
30777921 2019
18
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations? 61
30218396 2019
19
Horizontal gaze palsy with progressive scoliosis: a case report with magnetic resonance tractography and electrophysiological study. 61
29843650 2018
20
Horizontal gaze palsy with progressive scoliosis - A case report. 61
29089675 2017
21
Horizontal Gaze Palsy and Progressive Scoliosis With ROBO 3 Mutations in Patients From Cape Verde. 61
27749773 2017
22
A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis. 61
27267957 2017
23
K+ Channel Kv3.4 Is Essential for Axon Growth by Limiting the Influx of Ca2+ into Growth Cones. 61
28320840 2017
24
Familial Horizontal Gaze Palsy With Progressive Scoliosis. 61
27682326 2016
25
[Horizontal gaze palsy with progressive scoliosis]. 61
25803557 2015
26
[Congenital cranial dysinnervation disorders (CCDD)]. 61
25803556 2015
27
Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report. 61
25885466 2015
28
Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis. 61
25448146 2014
29
The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder. 61
25173900 2014
30
Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3. 61
26900705 2014
31
Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3. 61
26465116 2014
32
Horizontal gaze palsy with progressive scoliosis in a Moroccan family. 61
24559884 2014
33
Radiological features of horizontal gaze palsy with progressive scoliosis. An 'Aunt Minnie' diagnosis? 61
24783716 2014
34
Early-onset or rapidly progressive scoliosis in children: check the eyes! 61
23810770 2013
35
Horizontal gaze palsy and scoliosis: a case report and review of the literature. 61
25031520 2013
36
The EBAX-type Cullin-RING E3 ligase and Hsp90 guard the protein quality of the SAX-3/Robo receptor in developing neurons. 61
24012004 2013
37
The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. 61
24138051 2013
38
Human disorders of axon guidance. 61
22398400 2012
39
Imaging findings in congenital cranial dysinnervation disorders. 61
24132067 2011
40
Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. 61
21216876 2011
41
Synergistic convergence and split pons in horizontal gaze palsy and progressive scoliosis in two sisters. 61
21350292 2011
42
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients. 61
21850172 2011
43
Ipsilateral stroke in a patient with horizontal gaze palsy with progressive scoliosis and a subcortical infarct. 61
21088243 2011
44
MR Tractography in Horizontal Gaze Palsy and Progressive Scoliosis. A Case Report. 61
24148680 2010
45
Genetic dissection of the function of hindbrain axonal commissures. 61
20231872 2010
46
Human genetic disorders of axon guidance. 61
20300212 2010
47
Diffusion tensor imaging in horizontal gaze palsy with progressive scoliosis. 61
20071118 2010
48
Diffusion imaging of congenital brain malformations. 61
19778708 2009
49
Unidirectional startle responses and disrupted left-right co-ordination of motor behaviors in robo3 mutant zebrafish. 61
19496826 2009
50
Horizontal gaze palsy with progressive scoliosis: CT and MR findings. 61
19020872 2009

Variations for Horizontal Gaze Palsy with Progressive Scoliosis

ClinVar genetic disease variations for Horizontal Gaze Palsy with Progressive Scoliosis:

6 (show top 50) (show all 145)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ROBO3 ROBO3, 1-BP INS, 3325G Insertion Pathogenic 2173 GRCh37:
GRCh38:
2 ROBO3 NM_022370.4(ROBO3):c.2317C>T (p.Gln773Ter) SNV Pathogenic 2185 rs121918278 GRCh37: 11:124745477-124745477
GRCh38: 11:124875581-124875581
3 ROBO3 NM_022370.4(ROBO3):c.1886_1887del (p.Val629fs) Deletion Pathogenic 2183 rs1565312182 GRCh37: 11:124744067-124744068
GRCh38: 11:124874171-124874172
4 ROBO3 NM_022370.4(ROBO3):c.1838_1839CA[3] (p.Thr615fs) Microsatellite Pathogenic 2182 rs775068146 GRCh37: 11:124744018-124744019
GRCh38: 11:124874122-124874123
5 ROBO3 NM_022370.4(ROBO3):c.2073+1G>A SNV Pathogenic 2181 rs1565312616 GRCh37: 11:124744806-124744806
GRCh38: 11:124874910-124874910
6 ROBO3 NM_022370.4(ROBO3):c.1366G>T (p.Gly456Ter) SNV Pathogenic 2176 rs121918273 GRCh37: 11:124742815-124742815
GRCh38: 11:124872919-124872919
7 ROBO3 ROBO3, 1-BP INS, 2310C Insertion Pathogenic 2178 GRCh37:
GRCh38:
8 ROBO3 NM_022370.4(ROBO3):c.4098del (p.Arg1367fs) Deletion Pathogenic 779379 rs759310343 GRCh37: 11:124750453-124750453
GRCh38: 11:124880557-124880557
9 ROBO3 NM_022370.4(ROBO3):c.4144C>T (p.Arg1382Ter) SNV Pathogenic 998322 GRCh37: 11:124750499-124750499
GRCh38: 11:124880603-124880603
10 ROBO3 NM_022370.4(ROBO3):c.3958+1G>A SNV Pathogenic 1033594 GRCh37: 11:124749845-124749845
GRCh38: 11:124879949-124879949
11 ROBO3 NM_022370.4(ROBO3):c.2312C>T (p.Pro771Leu) SNV Likely pathogenic 996102 GRCh37: 11:124745472-124745472
GRCh38: 11:124875576-124875576
12 ROBO3 NM_022370.4(ROBO3):c.3412del (p.Arg1138fs) Deletion Likely pathogenic 974849 GRCh37: 11:124748569-124748569
GRCh38: 11:124878673-124878673
13 ROBO3 NM_022370.4(ROBO3):c.767-1G>A SNV Likely pathogenic 974850 GRCh37: 11:124740060-124740060
GRCh38: 11:124870164-124870164
14 ROBO3 NM_022370.4(ROBO3):c.2663T>C (p.Leu888Pro) SNV Likely pathogenic 996103 GRCh37: 11:124746240-124746240
GRCh38: 11:124876344-124876344
15 ROBO3 NM_022370.4(ROBO3):c.1433C>T (p.Pro478Leu) SNV Likely pathogenic 996105 GRCh37: 11:124742882-124742882
GRCh38: 11:124872986-124872986
16 ROBO3 NM_022370.4(ROBO3):c.1450T>C (p.Trp484Arg) SNV Likely pathogenic 996106 GRCh37: 11:124742899-124742899
GRCh38: 11:124873003-124873003
17 ROBO3 NM_022370.4(ROBO3):c.1726T>C (p.Trp576Arg) SNV Likely pathogenic 996107 GRCh37: 11:124743700-124743700
GRCh38: 11:124873804-124873804
18 ROBO3 NM_022370.4(ROBO3):c.1158G>C (p.Gln386His) SNV Likely pathogenic 996108 GRCh37: 11:124741034-124741034
GRCh38: 11:124871138-124871138
19 ROBO3 NM_022370.4(ROBO3):c.271C>T (p.Pro91Ser) SNV Likely pathogenic 996109 GRCh37: 11:124738808-124738808
GRCh38: 11:124868912-124868912
20 ROBO3 NM_022370.4(ROBO3):c.416G>T (p.Gly139Val) SNV Likely pathogenic 996112 GRCh37: 11:124738953-124738953
GRCh38: 11:124869057-124869057
21 ROBO3 NM_022370.4(ROBO3):c.335G>C (p.Arg112Pro) SNV Likely pathogenic 996119 GRCh37: 11:124738872-124738872
GRCh38: 11:124868976-124868976
22 ROBO3 NM_022370.4(ROBO3):c.284T>C (p.Ile95Thr) SNV Likely pathogenic 996120 GRCh37: 11:124738821-124738821
GRCh38: 11:124868925-124868925
23 ROBO3 NM_022370.4(ROBO3):c.955G>A (p.Glu319Lys) SNV Likely pathogenic 2177 rs121918274 GRCh37: 11:124740546-124740546
GRCh38: 11:124870650-124870650
24 ROBO3 NM_022370.4(ROBO3):c.2113T>C (p.Ser705Pro) SNV Likely pathogenic 2175 rs121918272 GRCh37: 11:124745046-124745046
GRCh38: 11:124875150-124875150
25 ROBO3 NM_022370.4(ROBO3):c.196A>C (p.Ile66Leu) SNV Likely pathogenic 2180 rs121918276 GRCh37: 11:124738733-124738733
GRCh38: 11:124868837-124868837
26 ROBO3 NM_022370.4(ROBO3):c.14T>C (p.Leu5Pro) SNV Likely pathogenic 2179 rs121918275 GRCh37: 11:124735487-124735487
GRCh38: 11:124865591-124865591
27 ROBO3 NM_022370.4(ROBO3):c.1082G>A (p.Gly361Glu) SNV Likely pathogenic 2172 rs121918270 GRCh37: 11:124740958-124740958
GRCh38: 11:124871062-124871062
28 ROBO3 NM_022370.4(ROBO3):c.2108G>C (p.Arg703Pro) SNV Likely pathogenic 2174 rs121918271 GRCh37: 11:124745041-124745041
GRCh38: 11:124875145-124875145
29 ROBO3 NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp) SNV Conflicting interpretations of pathogenicity 2184 rs121918277 GRCh37: 11:124739931-124739931
GRCh38: 11:124870035-124870035
30 ROBO3 NM_022370.4(ROBO3):c.1379A>G (p.Gln460Arg) SNV Conflicting interpretations of pathogenicity 632151 rs771613910 GRCh37: 11:124742828-124742828
GRCh38: 11:124872932-124872932
31 ROBO3 NM_022370.4(ROBO3):c.2329dup (p.Val777fs) Duplication Uncertain significance 632152 rs750231138 GRCh37: 11:124745487-124745488
GRCh38: 11:124875591-124875592
32 ROBO3 NM_022370.4(ROBO3):c.4137_4138del (p.Lys1380fs) Deletion Uncertain significance 632153 rs1277832845 GRCh37: 11:124750491-124750492
GRCh38: 11:124880595-124880596
33 ROBO3 NM_022370.4(ROBO3):c.1235C>T (p.Thr412Ile) SNV Uncertain significance 870416 GRCh37: 11:124742353-124742353
GRCh38: 11:124872457-124872457
34 ROBO3 NM_022370.4(ROBO3):c.770G>A (p.Arg257His) SNV Uncertain significance 877305 GRCh37: 11:124740064-124740064
GRCh38: 11:124870168-124870168
35 ROBO3 NM_022370.4(ROBO3):c.2102G>T (p.Gly701Val) SNV Uncertain significance 303249 rs184921255 GRCh37: 11:124745035-124745035
GRCh38: 11:124875139-124875139
36 ROBO3 NM_022370.4(ROBO3):c.3320+12C>T SNV Uncertain significance 303269 rs761311616 GRCh37: 11:124748344-124748344
GRCh38: 11:124878448-124878448
37 ROBO3 NM_022370.4(ROBO3):c.592G>A (p.Val198Met) SNV Uncertain significance 303224 rs192622083 GRCh37: 11:124739450-124739450
GRCh38: 11:124869554-124869554
38 ROBO3 NM_022370.4(ROBO3):c.*111C>T SNV Uncertain significance 303286 rs886047915 GRCh37: 11:124751257-124751257
GRCh38: 11:124881361-124881361
39 ROBO3 NM_022370.4(ROBO3):c.3922G>A (p.Val1308Met) SNV Uncertain significance 303278 rs752717878 GRCh37: 11:124749808-124749808
GRCh38: 11:124879912-124879912
40 ROBO3 NM_022370.4(ROBO3):c.2727C>G (p.Cys909Trp) SNV Uncertain significance 592119 rs1565313973 GRCh37: 11:124746304-124746304
GRCh38: 11:124876408-124876408
41 ROBO3 NM_022370.4(ROBO3):c.571dup (p.Arg191fs) Duplication Uncertain significance 632150 rs756837590 GRCh37: 11:124739422-124739423
GRCh38: 11:124869526-124869527
42 ROBO3 NM_022370.4(ROBO3):c.2515C>A (p.Leu839Ile) SNV Uncertain significance 877358 GRCh37: 11:124745943-124745943
GRCh38: 11:124876047-124876047
43 ROBO3 NM_022370.4(ROBO3):c.3788G>C (p.Ser1263Thr) SNV Uncertain significance 877412 GRCh37: 11:124749463-124749463
GRCh38: 11:124879567-124879567
44 ROBO3 NM_022370.4(ROBO3):c.1634C>T (p.Ser545Leu) SNV Uncertain significance 878925 GRCh37: 11:124743608-124743608
GRCh38: 11:124873712-124873712
45 ROBO3 NM_022370.4(ROBO3):c.1805G>T (p.Trp602Leu) SNV Uncertain significance 878926 GRCh37: 11:124743986-124743986
GRCh38: 11:124874090-124874090
46 ROBO3 NM_022370.4(ROBO3):c.1808G>A (p.Arg603His) SNV Uncertain significance 878927 GRCh37: 11:124743989-124743989
GRCh38: 11:124874093-124874093
47 ROBO3 NM_022370.4(ROBO3):c.1953T>C (p.Asp651=) SNV Uncertain significance 878928 GRCh37: 11:124744685-124744685
GRCh38: 11:124874789-124874789
48 ROBO3 NM_022370.4(ROBO3):c.3042C>T (p.Gly1014=) SNV Uncertain significance 878972 GRCh37: 11:124747888-124747888
GRCh38: 11:124877992-124877992
49 ROBO3 NM_022370.4(ROBO3):c.3275G>C (p.Cys1092Ser) SNV Uncertain significance 878973 GRCh37: 11:124748287-124748287
GRCh38: 11:124878391-124878391
50 ROBO3 NM_022370.4(ROBO3):c.*64C>G SNV Uncertain significance 879029 GRCh37: 11:124751210-124751210
GRCh38: 11:124881314-124881314

Expression for Horizontal Gaze Palsy with Progressive Scoliosis

Search GEO for disease gene expression data for Horizontal Gaze Palsy with Progressive Scoliosis.

Pathways for Horizontal Gaze Palsy with Progressive Scoliosis

Pathways related to Horizontal Gaze Palsy with Progressive Scoliosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.88 ROBO3 DCC

GO Terms for Horizontal Gaze Palsy with Progressive Scoliosis

Cellular components related to Horizontal Gaze Palsy with Progressive Scoliosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.62 ROBO3 DCC

Biological processes related to Horizontal Gaze Palsy with Progressive Scoliosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.16 ROBO3 DCC
2 nervous system development GO:0007399 8.96 ROBO3 DCC
3 axon guidance GO:0007411 8.62 ROBO3 DCC

Sources for Horizontal Gaze Palsy with Progressive Scoliosis

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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