SMALED2A
MCID: SPN426
MIFTS: 33

Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant (SMALED2A)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

MalaCards integrated aliases for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant:

Name: Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant 57
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Autosomal Dominant 57 29 6
Smaled2a 57 72
Bicd2-Related Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures 58
Spinal Muscular Atrophy, Lower Extremity-Predominant 2a, Childhood Onset, Autosomal Dominant 72
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 58
Smaled2 58

Characteristics:

Orphanet epidemiological data:

58
bicd2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in early first decade, although some patients have onset at birth or early in infancy
slowly or non-progressive


HPO:

31
spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

OMIM® : 57 SMALED2A is an autosomal dominant form of spinal muscular atrophy characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by Oates et al., 2013). For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600). (615290) (Updated 20-May-2021)

MalaCards based summary : Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant, also known as spinal muscular atrophy, lower extremity-predominant, 2a, autosomal dominant, is related to autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 and spinal muscular atrophy with lower extremity predominance 2a. An important gene associated with Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant is BICD2 (BICD Cargo Adaptor 2). Affiliated tissues include skeletal muscle and spinal cord, and related phenotypes are waddling gait and distal muscle weakness

UniProtKB/Swiss-Prot : 72 Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant: An autosomal dominant form of spinal muscular atrophy characterized by early-childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life.

Related Diseases for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

Diseases related to Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 11.3
2 spinal muscular atrophy with lower extremity predominance 2a 10.9
3 spinal muscular atrophy 10.1
4 muscular atrophy 10.1
5 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 9.9
6 spinal muscular atrophy with lower extremity predominance 9.9
7 myopathy 9.9
8 congenital contractures 9.9
9 autosomal dominant childhood-onset proximal spinal muscular atrophy 9.9
10 overgrowth syndrome 9.9

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant:



Diseases related to Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant

Symptoms & Phenotypes for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

Human phenotypes related to Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
2 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
3 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
4 distal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008944
5 gowers sign 58 31 frequent (33%) Frequent (79-30%) HP:0003391
6 congenital foot contraction deformities 58 31 frequent (33%) Frequent (79-30%) HP:0005853
7 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
8 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
9 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
10 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
11 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
12 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
13 abnormality of the achilles tendon 58 31 occasional (7.5%) Occasional (29-5%) HP:0005109
14 spasticity 31 occasional (7.5%) HP:0001257
15 scapular winging 31 occasional (7.5%) HP:0003691
16 fasciculations 31 occasional (7.5%) HP:0002380
17 hip contracture 31 occasional (7.5%) HP:0003273
18 knee flexion contracture 31 occasional (7.5%) HP:0006380
19 hand muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0030237
20 shoulder girdle muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0003547
21 flexion contracture 58 Occasional (29-5%)
22 achilles tendon contracture 31 HP:0001771
23 toe walking 31 HP:0040083
24 talipes equinovarus 31 HP:0001762
25 areflexia 31 HP:0001284
26 proximal muscle weakness 58 Frequent (79-30%)
27 axial muscle weakness 31 HP:0003327
28 difficulty running 31 HP:0009046
29 spinal muscular atrophy 31 HP:0007269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
waddling gait
difficulty running
delayed motor development
spasticity (in some patients)
toe-walking
more
Skeletal Feet:
foot deformities
achilles tendon contractures
pes equinovarus

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging (in some patients)

Skeletal Limbs:
knee contractures (in some patients)

Muscle Soft Tissue:
axial muscle weakness
gowers sign
fatty replacement
necrotic fibers
muscle weakness, proximal and distal (predominant lower limb involvement)
more
Skeletal Pelvis:
hip contractures (in some patients)
hip dysplasia (in some patients)

Skeletal Spine:
hyperlordosis (in some patients)

Neurologic Peripheral Nervous System:
hyporeflexia, distal
areflexia, distal

Clinical features from OMIM®:

615290 (Updated 20-May-2021)

Drugs & Therapeutics for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant

Genetic Tests for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

Genetic tests related to Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Autosomal Dominant 29 BICD2

Anatomical Context for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

MalaCards organs/tissues related to Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant:

40
Skeletal Muscle, Spinal Cord

Publications for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

Articles related to Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant:

(show all 16)
# Title Authors PMID Year
1
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. 6 57
28635954 2017
2
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement. 6 57
27784775 2016
3
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. 6 57
23664120 2013
4
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. 6 57
23664119 2013
5
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. 57 6
23664116 2013
6
Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. 57 6
22628388 2012
7
Congenital autosomal dominant distal spinal muscular atrophy. 6 57
9713859 1998
8
Dominant congenital benign spinal muscular atrophy. 57 6
8114789 1994
9
Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development. 57
29528393 2018
10
Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2. 6
29273277 2018
11
Genetic heterogeneity of motor neuropathies. 6
28251916 2017
12
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. 6
25497877 2015
13
Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype. 6
24336790 2014
14
A description of community health nursing practice with the community-based elderly. 6
2778477 1989
15
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy. 61
33547725 2021
16
Clinical spectrum of BICD2 mutations. 61
32056343 2020

Variations for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

ClinVar genetic disease variations for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant:

6 (show top 50) (show all 247)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BICD2 NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr) SNV Pathogenic 55859 rs398123029 GRCh37: 9:95484981-95484981
GRCh38: 9:92722699-92722699
2 BICD2 NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr) SNV Pathogenic 55861 rs398123031 GRCh37: 9:95481404-95481404
GRCh38: 9:92719122-92719122
3 BICD2 NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro) SNV Pathogenic 55862 rs398123032 GRCh37: 9:95481425-95481425
GRCh38: 9:92719143-92719143
4 BICD2 NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly) SNV Pathogenic 55860 rs398123030 GRCh37: 9:95477683-95477683
GRCh38: 9:92715401-92715401
5 BICD2 NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) SNV Pathogenic 55857 rs398123028 GRCh37: 9:95491439-95491439
GRCh38: 9:92729157-92729157
6 BICD2 NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) SNV Pathogenic 637067 rs1587667544 GRCh37: 9:95480098-95480098
GRCh38: 9:92717816-92717816
7 BICD2 NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) SNV Likely pathogenic 210526 rs797045412 GRCh37: 9:95480847-95480847
GRCh38: 9:92718565-92718565
8 BICD2 NM_001003800.2(BICD2):c.1673G>C (p.Arg558Pro) SNV Likely pathogenic 807551 rs1263279945 GRCh37: 9:95481254-95481254
GRCh38: 9:92718972-92718972
9 BICD2 NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) SNV Likely pathogenic 55858 rs371707778 GRCh37: 9:95480229-95480229
GRCh38: 9:92717947-92717947
10 BICD2 NM_001003800.2(BICD2):c.2105A>G (p.Gln702Arg) SNV Likely pathogenic 648279 rs1587668077 GRCh37: 9:95480822-95480822
GRCh38: 9:92718540-92718540
11 BICD2 NM_001003800.2(BICD2):c.2200_2202del (p.Lys734del) Deletion Likely pathogenic 982816 GRCh37: 9:95480135-95480137
GRCh38: 9:92717853-92717855
12 BICD2 NM_001003800.2(BICD2):c.1667A>C (p.Tyr556Ser) SNV Likely pathogenic 647320 rs1587668748 GRCh37: 9:95481260-95481260
GRCh38: 9:92718978-92718978
13 BICD2 NM_001003800.2(BICD2):c.1667A>G (p.Tyr556Cys) SNV Likely pathogenic 862389 GRCh37: 9:95481260-95481260
GRCh38: 9:92718978-92718978
14 BICD2 NM_001003800.2(BICD2):c.484C>T (p.Arg162Cys) SNV Likely pathogenic 916026 GRCh37: 9:95485060-95485060
GRCh38: 9:92722778-92722778
15 BICD2 NM_001003800.2(BICD2):c.1633A>G (p.Asn545Asp) SNV Likely pathogenic 650473 rs1587668769 GRCh37: 9:95481294-95481294
GRCh38: 9:92719012-92719012
16 BICD2 NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp) SNV Likely pathogenic 802490 rs1445290655 GRCh37: 9:95481063-95481063
GRCh38: 9:92718781-92718781
17 BICD2 NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) SNV Conflicting interpretations of pathogenicity 155729 rs587777885 GRCh37: 9:95480934-95480934
GRCh38: 9:92718652-92718652
18 BICD2 NM_001003800.2(BICD2):c.2297G>A (p.Arg766Gln) SNV Uncertain significance 648778 rs1216459221 GRCh37: 9:95477707-95477707
GRCh38: 9:92715425-92715425
19 BICD2 NM_001003800.2(BICD2):c.247G>A (p.Gly83Arg) SNV Uncertain significance 649720 rs1587675774 GRCh37: 9:95491512-95491512
GRCh38: 9:92729230-92729230
20 BICD2 NM_001003800.2(BICD2):c.2384G>A (p.Arg795Gln) SNV Uncertain significance 650433 rs1473987839 GRCh37: 9:95477620-95477620
GRCh38: 9:92715338-92715338
21 BICD2 NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met) SNV Uncertain significance 439432 rs777065935 GRCh37: 9:95481551-95481551
GRCh38: 9:92719269-92719269
22 BICD2 NM_001003800.2(BICD2):c.2515G>A (p.Gly839Arg) SNV Uncertain significance 565422 rs756910200 GRCh37: 9:95477489-95477489
GRCh38: 9:92715207-92715207
23 BICD2 NM_001003800.2(BICD2):c.2429G>A (p.Arg810His) SNV Uncertain significance 574868 rs556905704 GRCh37: 9:95477575-95477575
GRCh38: 9:92715293-92715293
24 BICD2 NM_001003800.2(BICD2):c.1886A>G (p.Asn629Ser) SNV Uncertain significance 661093 rs768918778 GRCh37: 9:95481041-95481041
GRCh38: 9:92718759-92718759
25 BICD2 NM_001003800.2(BICD2):c.1349G>A (p.Arg450His) SNV Uncertain significance 835746 GRCh37: 9:95481578-95481578
GRCh38: 9:92719296-92719296
26 BICD2 NM_001003800.2(BICD2):c.1486C>T (p.Arg496Cys) SNV Uncertain significance 837169 GRCh37: 9:95481441-95481441
GRCh38: 9:92719159-92719159
27 BICD2 NM_001003800.2(BICD2):c.185A>C (p.Glu62Ala) SNV Uncertain significance 838404 GRCh37: 9:95526842-95526842
GRCh38: 9:92764560-92764560
28 BICD2 NM_001003800.2(BICD2):c.1094C>T (p.Thr365Met) SNV Uncertain significance 840065 GRCh37: 9:95481833-95481833
GRCh38: 9:92719551-92719551
29 BICD2 NM_001003800.2(BICD2):c.1592G>T (p.Ser531Ile) SNV Uncertain significance 842720 GRCh37: 9:95481335-95481335
GRCh38: 9:92719053-92719053
30 BICD2 NM_001003800.2(BICD2):c.889G>A (p.Glu297Lys) SNV Uncertain significance 848270 GRCh37: 9:95482755-95482755
GRCh38: 9:92720473-92720473
31 BICD2 NM_001003800.2(BICD2):c.1564G>A (p.Val522Met) SNV Uncertain significance 849731 GRCh37: 9:95481363-95481363
GRCh38: 9:92719081-92719081
32 BICD2 NM_001003800.2(BICD2):c.1742G>A (p.Arg581His) SNV Uncertain significance 859617 GRCh37: 9:95481185-95481185
GRCh38: 9:92718903-92718903
33 BICD2 NM_001003800.2(BICD2):c.1704_1721dup (p.Gly570_Pro575dup) Duplication Uncertain significance 446893 rs998616675 GRCh37: 9:95481205-95481206
GRCh38: 9:92718923-92718924
34 BICD2 NM_001003800.2(BICD2):c.1502G>A (p.Arg501Gln) SNV Uncertain significance 863124 GRCh37: 9:95481425-95481425
GRCh38: 9:92719143-92719143
35 BICD2 NM_001003800.2(BICD2):c.956C>T (p.Thr319Met) SNV Uncertain significance 934655 GRCh37: 9:95482688-95482688
GRCh38: 9:92720406-92720406
36 BICD2 NM_001003800.2(BICD2):c.656C>G (p.Thr219Ser) SNV Uncertain significance 948172 GRCh37: 9:95482988-95482988
GRCh38: 9:92720706-92720706
37 BICD2 NM_001003800.2(BICD2):c.1414G>A (p.Gly472Ser) SNV Uncertain significance 951200 GRCh37: 9:95481513-95481513
GRCh38: 9:92719231-92719231
38 BICD2 NM_001003800.2(BICD2):c.16GAG[3] (p.Glu9del) Microsatellite Uncertain significance 969431 GRCh37: 9:95527000-95527002
GRCh38: 9:92764718-92764720
39 BICD2 NM_001003800.2(BICD2):c.1741C>T (p.Arg581Cys) SNV Uncertain significance 474266 rs771001231 GRCh37: 9:95481186-95481186
GRCh38: 9:92718904-92718904
40 BICD2 NM_001003800.2(BICD2):c.1922T>C (p.Leu641Pro) SNV Uncertain significance 541282 rs1554705383 GRCh37: 9:95481005-95481005
GRCh38: 9:92718723-92718723
41 BICD2 NM_001003800.2(BICD2):c.1438G>A (p.Ala480Thr) SNV Uncertain significance 439434 rs140188204 GRCh37: 9:95481489-95481489
GRCh38: 9:92719207-92719207
42 BICD2 NM_001003800.2(BICD2):c.2452A>G (p.Lys818Glu) SNV Uncertain significance 568510 rs200341779 GRCh37: 9:95477552-95477552
GRCh38: 9:92715270-92715270
43 BICD2 NM_001003800.2(BICD2):c.713G>A (p.Arg238Gln) SNV Uncertain significance 573134 rs201389004 GRCh37: 9:95482931-95482931
GRCh38: 9:92720649-92720649
44 BICD2 NM_001003800.2(BICD2):c.2142G>C (p.Lys714Asn) SNV Uncertain significance 383686 rs777986224 GRCh37: 9:95480195-95480195
GRCh38: 9:92717913-92717913
45 BICD2 NM_001003800.2(BICD2):c.2383C>T (p.Arg795Trp) SNV Uncertain significance 644642 rs756421767 GRCh37: 9:95477621-95477621
GRCh38: 9:92715339-92715339
46 BICD2 NM_001003800.2(BICD2):c.1659G>A (p.Met553Ile) SNV Uncertain significance 432367 rs374912668 GRCh37: 9:95481268-95481268
GRCh38: 9:92718986-92718986
47 BICD2 NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg) SNV Uncertain significance 453157 rs755962512 GRCh37: 9:95483006-95483006
GRCh38: 9:92720724-92720724
48 BICD2 NM_001003800.2(BICD2):c.1540G>A (p.Gly514Ser) SNV Uncertain significance 432264 rs200091763 GRCh37: 9:95481387-95481387
GRCh38: 9:92719105-92719105
49 BICD2 NM_001003800.2(BICD2):c.641G>A (p.Arg214His) SNV Uncertain significance 844704 GRCh37: 9:95483003-95483003
GRCh38: 9:92720721-92720721
50 BICD2 NM_001003800.2(BICD2):c.1372A>G (p.Ser458Gly) SNV Uncertain significance 854985 GRCh37: 9:95481555-95481555
GRCh38: 9:92719273-92719273

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant:

72
# Symbol AA change Variation ID SNP ID
1 BICD2 p.Ser107Leu VAR_070112 rs398123028
2 BICD2 p.Asn188Thr VAR_070113 rs398123029
3 BICD2 p.Ile189Phe VAR_070114
4 BICD2 p.Arg501Pro VAR_070115 rs398123032
5 BICD2 p.Lys508Thr VAR_070116 rs398123031
6 BICD2 p.Thr703Met VAR_070117 rs371707778
7 BICD2 p.Glu774Gly VAR_070118 rs398123030

Expression for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant.

Pathways for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

GO Terms for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

Sources for Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a,...

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
Content
Loading form....