MCID: PRP066
MIFTS: 35

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Ear diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

MalaCards integrated aliases for Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:

Name: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 57 41 12 29 6 73
Pcwh Syndrome 57 41 12 13 6 40
Pcwh 57 12 59 75
Neurologic Waardenburg-Shah Syndrome 12 59
Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome and Hirschsprung Disease 75
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome 12
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease 59
Waardenburg-Shah Syndrome, Neurologic Variant 57
Waardenburg-Shah Syndrome Neurologic Variant 75
Ws4 Plus 59

Characteristics:

Orphanet epidemiological data:

59
peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
phenotype combines features of hirschsprung disease ({142623)}, charcot-marie-tooth disease type 1 (cmt1b, ), waardenburg-shah syndrome , and central dysmyelinating leukodystrophy
variable penetrance of these features


HPO:

32
peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

Disease Ontology : 12 An autosomal dominant disease characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including; neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy that has material basis in heterozygous mutation in the SOX10 gene on chromosome 22q13.

MalaCards based summary : Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease, also known as pcwh syndrome, is related to waardenburg syndrome, type 4a and waardenburg's syndrome, and has symptoms including ataxia and paraparesis, spastic. An important gene associated with Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease is SOX10 (SRY-Box 10). Affiliated tissues include skin, eye and bone, and related phenotypes are nystagmus and intellectual disability

OMIM : 57 PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). Inoue et al. (2004) proposed the acronym PCWH for this disorder. (609136)

UniProtKB/Swiss-Prot : 75 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease: A complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease.

Related Diseases for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

Diseases related to Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 4a 9.9
2 waardenburg's syndrome 9.9
3 encephalopathy 9.9
4 neonatal hypoxic and ischemic brain injury 9.9
5 waardenburg syndrome, type 4c 9.3 POLR2F SOX10
6 waardenburg syndrome, type 2e 9.2 POLR2F SOX10
7 hirschsprung disease 1 9.0 POLR2F SOX10

Graphical network of the top 20 diseases related to Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:



Diseases related to Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease

Symptoms & Phenotypes for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
heterochromia iridis
alacrima
bright blue eyes

Genitourinary External Genitalia Male:
cryptorchidism

Skin Nails Hair Skin:
hypopigmented skin patches

Skin Nails Hair Hair:
white forelock
white eyelashes
white eyebrows

Head And Neck Ears:
deafness, sensorineural
absent brainstem auditory responses
enlarged vestibule
small cochlea
abnormally shaped cochlea

Head And Neck Mouth:
parotid gland hypoplasia

Neurologic Central Nervous System:
nystagmus
ataxia
neonatal hypotonia
spastic paraparesis
autonomic dysregulation
more
Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
demyelinating peripheral neuropathy
distal sensory impairment
distal muscle weakness due to peripheral neuropathy
more
Head And Neck Nose:
anosmia
olfactory bulb agenesis

Abdomen Gastrointestinal:
decreased myenteric and submucosal ganglia in the bowel
chronic intestinal pseudoobstruction
hirschsprung disease, long-segment
intestinal aganglionosis

Skeletal Skull:
vestibular malformation seen on temporal bone ct (in some patients)
hypoplasia of the semicircular canals


Clinical features from OMIM:

609136

Human phenotypes related to Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
7 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
8 abnormal pyramidal signs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
9 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
11 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
12 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
13 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
14 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
15 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
16 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
17 hypohidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000966
18 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
19 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
20 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
21 prominent nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000426
22 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
23 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
24 decreased lacrimation 59 32 frequent (33%) Frequent (79-30%) HP:0000633
25 heterochromia iridis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001100
26 premature graying of hair 59 32 frequent (33%) Frequent (79-30%) HP:0002216
27 aganglionic megacolon 59 32 hallmark (90%) Very frequent (99-80%) HP:0002251
28 ileus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002595
29 microcolon 59 32 frequent (33%) Frequent (79-30%) HP:0004388
30 hypopigmentation of hair 59 32 frequent (33%) Frequent (79-30%) HP:0005599
31 neonatal hypotonia 32 HP:0001319
32 spastic tetraplegia 32 HP:0002510
33 decreased nerve conduction velocity 32 HP:0000762
34 cryptorchidism 32 HP:0000028
35 pes cavus 32 HP:0001761
36 abnormality of the eyebrow 59 Frequent (79-30%)
37 areflexia 32 HP:0001284
38 hyporeflexia 32 HP:0001265
39 white forelock 32 HP:0002211
40 white eyebrow 32 HP:0002226
41 white eyelashes 32 HP:0002227
42 peripheral demyelination 32 HP:0011096
43 anosmia 32 HP:0000458
44 distal muscle weakness 32 HP:0002460
45 alacrima 32 HP:0000522
46 demyelinating peripheral neuropathy 32 HP:0007108
47 distal amyotrophy 32 HP:0003693
48 distal sensory impairment 32 HP:0002936
49 spastic paraparesis 32 HP:0002313
50 autonomic dysregulation 32 HP:0002271

UMLS symptoms related to Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:


ataxia, paraparesis, spastic

GenomeRNAi Phenotypes related to Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.7 SOX10
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.7 SOX10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.7 POLR2F SOX10
4 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.7 SOX10
5 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.7 POLR2F
6 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.7 SOX10
7 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.7 SOX10
8 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.7 SOX10
9 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.7 SOX10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.7 SOX10
11 Decreased viability GR00240-S-1 9.46 POLR2F SOX10
12 Decreased viability GR00402-S-2 9.46 POLR2F SOX10
13 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 POLR2F SOX10
14 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 POLR2F SOX10

Drugs & Therapeutics for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

Search Clinical Trials , NIH Clinical Center for Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease

Genetic Tests for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

Genetic tests related to Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:

# Genetic test Affiliating Genes
1 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 29 SOX10

Anatomical Context for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

MalaCards organs/tissues related to Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:

41
Skin, Eye, Bone, Olfactory Bulb

Publications for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

Variations for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

UniProtKB/Swiss-Prot genetic disease variations for Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:

75
# Symbol AA change Variation ID SNP ID
1 SOX10 p.Met112Ile VAR_066748
2 SOX10 p.Asn131His VAR_066749
3 SOX10 p.Lys150Asn VAR_066751
4 SOX10 p.Gln174Pro VAR_066754 rs267607081
5 SOX10 p.Pro175Ala VAR_066755
6 SOX10 p.Pro175Leu VAR_066756
7 SOX10 p.Pro175Arg VAR_066757
8 SOX10 p.Gly321Arg VAR_066758

ClinVar genetic disease variations for Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease:

6
(show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX10 NM_006941.3(SOX10): c.939C> G (p.Tyr313Ter) single nucleotide variant Pathogenic rs74315516 GRCh37 Chromosome 22, 38369964: 38369964
2 SOX10 NM_006941.3(SOX10): c.939C> G (p.Tyr313Ter) single nucleotide variant Pathogenic rs74315516 GRCh38 Chromosome 22, 37973957: 37973957
3 SOX10 NM_006941.3(SOX10): c.752C> A (p.Ser251Ter) single nucleotide variant Pathogenic rs74315518 GRCh37 Chromosome 22, 38370151: 38370151
4 SOX10 NM_006941.3(SOX10): c.752C> A (p.Ser251Ter) single nucleotide variant Pathogenic rs74315518 GRCh38 Chromosome 22, 37974144: 37974144
5 SOX10 NM_006941.3(SOX10): c.1400_*10delAAAGGGGGCCCT (p.*467Cysext*82) deletion Pathogenic rs397515368 GRCh37 Chromosome 22, 38369492: 38369503
6 SOX10 NM_006941.3(SOX10): c.1400_*10delAAAGGGGGCCCT (p.*467Cysext*82) deletion Pathogenic rs397515368 GRCh38 Chromosome 22, 37973485: 37973496
7 SOX10 NM_006941.3(SOX10): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs74315521 GRCh37 Chromosome 22, 38370155: 38370155
8 SOX10 NM_006941.3(SOX10): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs74315521 GRCh38 Chromosome 22, 37974148: 37974148
9 SOX10 NM_006941.3(SOX10): c.797delG (p.Gly266Alafs) deletion Pathogenic rs397515371 GRCh37 Chromosome 22, 38370106: 38370106
10 SOX10 NM_006941.3(SOX10): c.797delG (p.Gly266Alafs) deletion Pathogenic rs397515371 GRCh38 Chromosome 22, 37974099: 37974099
11 SOX10 NM_006941.3(SOX10): c.915delG (p.His306Thrfs) deletion Pathogenic rs397515372 GRCh37 Chromosome 22, 38369988: 38369988
12 SOX10 NM_006941.3(SOX10): c.915delG (p.His306Thrfs) deletion Pathogenic rs397515372 GRCh38 Chromosome 22, 37973981: 37973981
13 SOX10 NM_006941.3(SOX10): c.1127C> G (p.Ser376Ter) single nucleotide variant Likely pathogenic rs483353058 GRCh37 Chromosome 22, 38369776: 38369776
14 SOX10 NM_006941.3(SOX10): c.1127C> G (p.Ser376Ter) single nucleotide variant Likely pathogenic rs483353058 GRCh38 Chromosome 22, 37973769: 37973769
15 SOX10 NM_006941.3(SOX10): c.927T> C (p.His309=) single nucleotide variant Benign rs139884 GRCh38 Chromosome 22, 37973969: 37973969
16 SOX10 NM_006941.3(SOX10): c.927T> C (p.His309=) single nucleotide variant Benign rs139884 GRCh37 Chromosome 22, 38369976: 38369976
17 SOX10 NM_006941.3(SOX10): c.428+10C> G single nucleotide variant Benign/Likely benign rs201638602 GRCh37 Chromosome 22, 38379354: 38379354
18 SOX10 NM_006941.3(SOX10): c.428+10C> G single nucleotide variant Benign/Likely benign rs201638602 GRCh38 Chromosome 22, 37983347: 37983347
19 SOX10 NM_006941.3(SOX10): c.249C> T (p.Tyr83=) single nucleotide variant Benign/Likely benign rs73415876 GRCh37 Chromosome 22, 38379543: 38379543
20 SOX10 NM_006941.3(SOX10): c.249C> T (p.Tyr83=) single nucleotide variant Benign/Likely benign rs73415876 GRCh38 Chromosome 22, 37983536: 37983536
21 SOX10 NM_006941.3(SOX10): c.18C> T (p.Asp6=) single nucleotide variant Benign/Likely benign rs149435516 GRCh37 Chromosome 22, 38379774: 38379774
22 SOX10 NM_006941.3(SOX10): c.18C> T (p.Asp6=) single nucleotide variant Benign/Likely benign rs149435516 GRCh38 Chromosome 22, 37983767: 37983767
23 SOX10 NM_006941.3(SOX10): c.*1179G> A single nucleotide variant Uncertain significance rs749495956 GRCh38 Chromosome 22, 37972316: 37972316
24 SOX10 NM_006941.3(SOX10): c.*1179G> A single nucleotide variant Uncertain significance rs749495956 GRCh37 Chromosome 22, 38368323: 38368323
25 SOX10 NM_006941.3(SOX10): c.*932G> A single nucleotide variant Likely benign rs8141371 GRCh38 Chromosome 22, 37972563: 37972563
26 SOX10 NM_006941.3(SOX10): c.*932G> A single nucleotide variant Likely benign rs8141371 GRCh37 Chromosome 22, 38368570: 38368570
27 SOX10 NM_006941.3(SOX10): c.122G> T (p.Gly41Val) single nucleotide variant Benign/Likely benign rs199750760 GRCh38 Chromosome 22, 37983663: 37983663
28 SOX10 NM_006941.3(SOX10): c.122G> T (p.Gly41Val) single nucleotide variant Benign/Likely benign rs199750760 GRCh37 Chromosome 22, 38379670: 38379670
29 SOX10 NM_006941.3(SOX10): c.*1086_*1087delTC deletion Likely benign rs577740783 GRCh38 Chromosome 22, 37972408: 37972409
30 SOX10 NM_006941.3(SOX10): c.*1086_*1087delTC deletion Likely benign rs577740783 GRCh37 Chromosome 22, 38368415: 38368416
31 SOX10 NM_006941.3(SOX10): c.*712G> T single nucleotide variant Uncertain significance rs377420828 GRCh38 Chromosome 22, 37972783: 37972783
32 SOX10 NM_006941.3(SOX10): c.*712G> T single nucleotide variant Uncertain significance rs377420828 GRCh37 Chromosome 22, 38368790: 38368790
33 SOX10 NM_006941.3(SOX10): c.*711C> T single nucleotide variant Likely benign rs60962899 GRCh38 Chromosome 22, 37972784: 37972784
34 SOX10 NM_006941.3(SOX10): c.*711C> T single nucleotide variant Likely benign rs60962899 GRCh37 Chromosome 22, 38368791: 38368791
35 SOX10 NM_006941.3(SOX10): c.*643A> G single nucleotide variant Uncertain significance rs886057493 GRCh38 Chromosome 22, 37972852: 37972852
36 SOX10 NM_006941.3(SOX10): c.*643A> G single nucleotide variant Uncertain significance rs886057493 GRCh37 Chromosome 22, 38368859: 38368859
37 SOX10 NM_006941.3(SOX10): c.746T> A (p.Leu249Gln) single nucleotide variant Uncertain significance rs886057495 GRCh38 Chromosome 22, 37974150: 37974150
38 SOX10 NM_006941.3(SOX10): c.746T> A (p.Leu249Gln) single nucleotide variant Uncertain significance rs886057495 GRCh37 Chromosome 22, 38370157: 38370157
39 SOX10 NM_006941.3(SOX10): c.585C> T (p.Ala195=) single nucleotide variant Uncertain significance rs751780784 GRCh38 Chromosome 22, 37977979: 37977979
40 SOX10 NM_006941.3(SOX10): c.585C> T (p.Ala195=) single nucleotide variant Uncertain significance rs751780784 GRCh37 Chromosome 22, 38373986: 38373986
41 SOX10 NM_006941.3(SOX10): c.507G> A (p.Pro169=) single nucleotide variant Likely benign rs199703563 GRCh38 Chromosome 22, 37978057: 37978057
42 SOX10 NM_006941.3(SOX10): c.507G> A (p.Pro169=) single nucleotide variant Likely benign rs199703563 GRCh37 Chromosome 22, 38374064: 38374064
43 SOX10 NM_006941.3(SOX10): c.429-12A> G single nucleotide variant Likely benign rs753723642 GRCh38 Chromosome 22, 37978147: 37978147
44 SOX10 NM_006941.3(SOX10): c.429-12A> G single nucleotide variant Likely benign rs753723642 GRCh37 Chromosome 22, 38374154: 38374154
45 SOX10 NM_006941.3(SOX10): c.*537G> C single nucleotide variant Likely benign rs565069012 GRCh38 Chromosome 22, 37972958: 37972958
46 SOX10 NM_006941.3(SOX10): c.*537G> C single nucleotide variant Likely benign rs565069012 GRCh37 Chromosome 22, 38368965: 38368965
47 SOX10 NM_006941.3(SOX10): c.*475G> A single nucleotide variant Benign rs139883 GRCh38 Chromosome 22, 37973020: 37973020
48 SOX10 NM_006941.3(SOX10): c.*475G> A single nucleotide variant Benign rs139883 GRCh37 Chromosome 22, 38369027: 38369027
49 SOX10 NM_006941.3(SOX10): c.*158A> G single nucleotide variant Uncertain significance rs886057494 GRCh38 Chromosome 22, 37973337: 37973337
50 SOX10 NM_006941.3(SOX10): c.*158A> G single nucleotide variant Uncertain significance rs886057494 GRCh37 Chromosome 22, 38369344: 38369344

Expression for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

Search GEO for disease gene expression data for Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease.

Pathways for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

GO Terms for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

Biological processes related to Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription elongation from RNA polymerase II promoter GO:0006368 8.62 POLR2F SOX10

Sources for Peripheral Demyelinating Neuropathy, Central Dysmyelination,...

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