MDDGB2
MCID: MSC044
MIFTS: 31

Muscular Dystrophy-Dystroglycanopathy , Type B, 2 (MDDGB2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 2 57 72 13 70
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B2 29 6
Mddgb2 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B2 72
Muscular Dystrophy, Congenital, Pomt2-Related 57
Muscular Dystrophy Congenital Pomt2-Related 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in infancy


HPO:

31
muscular dystrophy-dystroglycanopathy , type b, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

OMIM® : 57 MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with impaired intellectual development and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) (Godfrey et al., 2007). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (613156) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 2, is also known as congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b2, and has symptoms including generalized muscle weakness and facial paresis. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include cortex, pons and tongue, and related phenotypes are left ventricular hypertrophy and pigmentary retinopathy

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
2 pigmentary retinopathy 31 occasional (7.5%) HP:0000580
3 left ventricular systolic dysfunction 31 occasional (7.5%) HP:0025169
4 intellectual disability 31 HP:0001249
5 scoliosis 31 HP:0002650
6 facial palsy 31 HP:0010628
7 respiratory insufficiency 31 HP:0002093
8 hyperlordosis 31 HP:0003307
9 macroglossia 31 HP:0000158
10 microcephaly 31 HP:0000252
11 flexion contracture 31 HP:0001371
12 strabismus 31 HP:0000486
13 cryptorchidism 31 HP:0000028
14 myopia 31 HP:0000545
15 elevated serum creatine kinase 31 HP:0003236
16 motor delay 31 HP:0001270
17 cerebral cortical atrophy 31 HP:0002120
18 open mouth 31 HP:0000194
19 micropenis 31 HP:0000054
20 areflexia 31 HP:0001284
21 ventriculomegaly 31 HP:0002119
22 hip dislocation 31 HP:0002827
23 hyporeflexia 31 HP:0001265
24 cerebellar hypoplasia 31 HP:0001321
25 hypoplasia of the corpus callosum 31 HP:0002079
26 muscular dystrophy 31 HP:0003560
27 generalized muscle weakness 31 HP:0003324
28 generalized hypotonia 31 HP:0001290
29 congenital muscular dystrophy 31 HP:0003741
30 proximal muscle weakness 31 HP:0003701

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
lordosis

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
micropenis

Skeletal Pelvis:
hip dislocation

Cardiovascular Heart:
left ventricular hypertrophy (in some patients)
dilated aortic root (in some patients)
left ventricular wall motion abnormalities (in some patients)
left ventricular systolic dysfunction (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Neck:
stiff, hyperextended neck

Respiratory:
respiratory insufficiency

Head And Neck Eyes:
strabismus
myopia
pigmentary retinopathy (reported in 1 patient)

Head And Neck Mouth:
open mouth
tongue hypertrophy

Neurologic Central Nervous System:
areflexia
hyporeflexia
cerebellar hypoplasia
hypoplasia of the corpus callosum
delayed motor development
more
Muscle Soft Tissue:
muscular dystrophy
muscle weakness, diffuse
muscle weakness, proximal
muscle hypertrophy
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )
more
Head And Neck Face:
facial muscle weakness

Skeletal:
contractures

Clinical features from OMIM®:

613156 (Updated 05-Apr-2021)

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:


generalized muscle weakness; facial paresis

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B2 29 POMT2

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

40
Cortex, Pons, Tongue

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

(show all 14)
# Title Authors PMID Year
1
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. 57 6
24002165 2014
2
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. 6 57
19138766 2009
3
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6 57
19299310 2009
4
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6 57
17878207 2007
5
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 57 6
17634419 2007
6
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. 6
30060766 2018
7
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. 6
28980384 2017
8
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
9
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. 6
26495167 2015
10
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 6
22323514 2012
11
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 6
18752264 2008
12
Molecular heterogeneity in fetal forms of type II lissencephaly. 6
17559086 2007
13
IL-20 is an arteriogenic cytokine that remodels collateral networks and improves functions of ischemic hind limbs. 6
17878297 2007
14
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 6
15894594 2005

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

6 (show top 50) (show all 207)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMT2 NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu) SNV Pathogenic 3222 rs267606969 GRCh37: 14:77743795-77743795
GRCh38: 14:77277452-77277452
2 POMT2 NM_013382.5(POMT2):c.1941G>A (p.Trp647Ter) SNV Pathogenic 3223 rs267606963 GRCh37: 14:77745163-77745163
GRCh38: 14:77278820-77278820
3 POMT2 NM_013382.5(POMT2):c.737G>A (p.Gly246Asp) SNV Pathogenic 3228 rs267606966 GRCh37: 14:77767512-77767512
GRCh38: 14:77301169-77301169
4 POMT2 NM_013382.5(POMT2):c.248+5G>C SNV Pathogenic 3234 rs587777816 GRCh37: 14:77786772-77786772
GRCh38: 14:77320429-77320429
5 POMT2 NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser) SNV Pathogenic 3231 rs267606970 GRCh37: 14:77762566-77762566
GRCh38: 14:77296223-77296223
6 POMT2 NM_013382.5(POMT2):c.248+1G>C SNV Pathogenic 579369 rs961440747 GRCh37: 14:77786776-77786776
GRCh38: 14:77320433-77320433
7 POMT2 NM_013382.5(POMT2):c.673del (p.Trp225fs) Deletion Pathogenic 649496 rs1594796439 GRCh37: 14:77767576-77767576
GRCh38: 14:77301233-77301233
8 POMT2 NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) SNV Pathogenic 538730 rs147871747 GRCh37: 14:77769186-77769186
GRCh38: 14:77302843-77302843
9 POMT2 NM_013382.5(POMT2):c.1293dup (p.Met432fs) Duplication Pathogenic 538734 rs1555352706 GRCh37: 14:77753125-77753126
GRCh38: 14:77286782-77286783
10 POMT2 NM_013382.7(POMT2):c.791del (p.Leu264fs) Deletion Pathogenic 938509 GRCh37: 14:77767458-77767458
GRCh38: 14:77301115-77301115
11 POMT2 NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) SNV Pathogenic 289683 rs775932206 GRCh37: 14:77765080-77765080
GRCh38: 14:77298737-77298737
12 POMT2 NM_013382.5(POMT2):c.1006+1G>A SNV Pathogenic 3219 rs533916138 GRCh37: 14:77765031-77765031
GRCh38: 14:77298688-77298688
13 POMT2 NM_013382.5(POMT2):c.1123_1124dup (p.Tyr376fs) Duplication Pathogenic 282447 rs886042401 GRCh37: 14:77757715-77757716
GRCh38: 14:77291372-77291373
14 POMT2 NM_013382.5(POMT2):c.924-2A>G SNV Pathogenic 289765 rs886044256 GRCh37: 14:77765116-77765116
GRCh38: 14:77298773-77298773
15 POMT2 NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) SNV Pathogenic 95535 rs368817785 GRCh37: 14:77751891-77751891
GRCh38: 14:77285548-77285548
16 POMT2 NM_013382.5(POMT2):c.924-2A>C SNV Pathogenic 449378 rs886044256 GRCh37: 14:77765116-77765116
GRCh38: 14:77298773-77298773
17 POMT2 NM_013382.5(POMT2):c.2242T>C (p.Trp748Arg) SNV Pathogenic 3224 rs267606964 GRCh37: 14:77743730-77743730
GRCh38: 14:77277387-77277387
18 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Pathogenic 3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
19 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Pathogenic 3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
20 POMT2 NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp) SNV Likely pathogenic 162597 rs727502855 GRCh37: 14:77753158-77753158
GRCh38: 14:77286815-77286815
21 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Likely pathogenic 3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
22 POMT2 NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu) SNV Likely pathogenic 194966 rs794727228 GRCh37: 14:77745146-77745146
GRCh38: 14:77278803-77278803
23 POMT2 NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs) Microsatellite Likely pathogenic 538732 rs1555351894 GRCh37: 14:77746394-77746395
GRCh38: 14:77280051-77280052
24 POMT2 NM_013382.5(POMT2):c.1485-2_1485-1del Deletion Likely pathogenic 579922 rs1185491348 GRCh37: 14:77751385-77751386
GRCh38: 14:77285042-77285043
25 POMT2 NM_013382.5(POMT2):c.148C>G (p.Arg50Gly) SNV Uncertain significance 211948 rs550420394 GRCh37: 14:77786877-77786877
GRCh38: 14:77320534-77320534
26 POMT2 NM_013382.5(POMT2):c.242A>G (p.His81Arg) SNV Uncertain significance 580857 rs746662519 GRCh37: 14:77786783-77786783
GRCh38: 14:77320440-77320440
27 POMT2 NM_013382.5(POMT2):c.2148-6T>A SNV Uncertain significance 581413 rs1242617887 GRCh37: 14:77743830-77743830
GRCh38: 14:77277487-77277487
28 POMT2 NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp) SNV Uncertain significance 582117 rs768256055 GRCh37: 14:77753119-77753119
GRCh38: 14:77286776-77286776
29 POMT2 NM_013382.5(POMT2):c.334-3C>A SNV Uncertain significance 587446 rs1566658848 GRCh37: 14:77772787-77772787
GRCh38: 14:77306444-77306444
30 POMT2 NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp) SNV Uncertain significance 582117 rs768256055 GRCh37: 14:77753119-77753119
GRCh38: 14:77286776-77286776
31 POMT2 NM_013382.5(POMT2):c.642C>A (p.Asn214Lys) SNV Uncertain significance 644886 rs1594797659 GRCh37: 14:77769192-77769192
GRCh38: 14:77302849-77302849
32 POMT2 NM_013382.5(POMT2):c.685C>T (p.Leu229Phe) SNV Uncertain significance 645110 rs754512099 GRCh37: 14:77767564-77767564
GRCh38: 14:77301221-77301221
33 POMT2 NM_013382.5(POMT2):c.1857G>C (p.Met619Ile) SNV Uncertain significance 646201 rs1594885046 GRCh37: 14:77746200-77746200
GRCh38: 14:77279857-77279857
34 POMT2 NM_013382.5(POMT2):c.416A>G (p.His139Arg) SNV Uncertain significance 647612 rs1594800188 GRCh37: 14:77772702-77772702
GRCh38: 14:77306359-77306359
35 POMT2 NM_013382.5(POMT2):c.50G>A (p.Arg17Gln) SNV Uncertain significance 648610 rs753326186 GRCh37: 14:77786975-77786975
GRCh38: 14:77320632-77320632
36 POMT2 NM_013382.5(POMT2):c.1282_1284del (p.His428del) Deletion Uncertain significance 650053 rs1594890912 GRCh37: 14:77753135-77753137
GRCh38: 14:77286792-77286794
37 POMT2 NM_013382.5(POMT2):c.1006+4_1006+7del Deletion Uncertain significance 652452 rs1594794303 GRCh37: 14:77765025-77765028
GRCh38: 14:77298682-77298685
38 POMT2 NM_013382.5(POMT2):c.1142A>G (p.Tyr381Cys) SNV Uncertain significance 654933 rs375840897 GRCh37: 14:77757698-77757698
GRCh38: 14:77291355-77291355
39 POMT2 NM_013382.5(POMT2):c.1124C>T (p.Thr375Ile) SNV Uncertain significance 657085 rs542912704 GRCh37: 14:77757716-77757716
GRCh38: 14:77291373-77291373
40 POMT2 NM_013382.5(POMT2):c.14C>G (p.Thr5Arg) SNV Uncertain significance 657322 rs760413289 GRCh37: 14:77787011-77787011
GRCh38: 14:77320668-77320668
41 POMT2 NM_013382.5(POMT2):c.1223A>G (p.His408Arg) SNV Uncertain significance 658014 rs1594787166 GRCh37: 14:77755135-77755135
GRCh38: 14:77288792-77288792
42 POMT2 NM_013382.5(POMT2):c.1975C>T (p.Arg659Trp) SNV Uncertain significance 658319 rs372939905 GRCh37: 14:77745129-77745129
GRCh38: 14:77278786-77278786
43 POMT2 NM_013382.5(POMT2):c.599T>C (p.Met200Thr) SNV Uncertain significance 660340 rs921045202 GRCh37: 14:77769235-77769235
GRCh38: 14:77302892-77302892
44 POMT2 NM_013382.5(POMT2):c.2251T>C (p.Ter751Arg) SNV Uncertain significance 665182 rs1423335226 GRCh37: 14:77743721-77743721
GRCh38: 14:77277378-77277378
45 POMT2 NM_013382.5(POMT2):c.322C>T (p.Pro108Ser) SNV Uncertain significance 471394 rs1555355402 GRCh37: 14:77778303-77778303
GRCh38: 14:77311960-77311960
46 POMT2 NM_013382.5(POMT2):c.1828C>T (p.Leu610Phe) SNV Uncertain significance 471391 rs1555351859 GRCh37: 14:77746229-77746229
GRCh38: 14:77279886-77279886
47 POMT2 NM_013382.5(POMT2):c.2228G>T (p.Arg743Met) SNV Uncertain significance 471392 rs767359121 GRCh37: 14:77743744-77743744
GRCh38: 14:77277401-77277401
48 POMT2 NM_013382.5(POMT2):c.29C>T (p.Ala10Val) SNV Uncertain significance 471393 rs183558313 GRCh37: 14:77786996-77786996
GRCh38: 14:77320653-77320653
49 POMT2 NM_013382.5(POMT2):c.1645A>G (p.Met549Val) SNV Uncertain significance 471390 rs1555352401 GRCh37: 14:77750148-77750148
GRCh38: 14:77283805-77283805
50 POMT2 NM_013382.5(POMT2):c.1467A>T (p.Gly489=) SNV Uncertain significance 471388 rs1555352583 GRCh37: 14:77751841-77751841
GRCh38: 14:77285498-77285498

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

72
# Symbol AA change Variation ID SNP ID
1 POMT2 p.Gly246Asp VAR_065039 rs267606966
2 POMT2 p.Tyr666Cys VAR_065045 rs200198778
3 POMT2 p.Phe717Ser VAR_065046
4 POMT2 p.Gly726Glu VAR_065047 rs267606969
5 POMT2 p.Trp748Arg VAR_065048 rs267606964

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 2.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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