SMAX3
MCID: SPN188
MIFTS: 43

Spinal Muscular Atrophy, Distal, X-Linked 3 (SMAX3)

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

Aliases & Classifications for Spinal Muscular Atrophy, Distal, X-Linked 3

MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, X-Linked 3:

Name: Spinal Muscular Atrophy, Distal, X-Linked 3 56 13 43 71
Smax3 56 12 58 73
Dsmax 56 12 58 73
X-Linked Distal Hereditary Motor Neuropathy Type 3 12 58
Distal Spinal Muscular Atrophy, X-Linked 3 29 6
X-Linked Distal Spinal Muscular Atrophy 3 12 15
Atp7a-Related Distal Motor Neuropathy 12 58
X-Linked Dhmn3 12 58
X-Linked Dsma3 12 58
Spinal Muscular Atrophy, Distal, X-Linked Recessive 56
Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3 39
X-Linked Recessive Distal Spinal Muscular Atrophy 12
Spinal Muscular Atrophy Distal X-Linked Recessive 73
X-Linked Distal Spinal Muscular Atrophy Type 3 58
Distal Spinal Muscular Atrophy, X-Linked, 3 73
Dsmax3 73

Characteristics:

Orphanet epidemiological data:

58
x-linked distal spinal muscular atrophy type 3
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM:

56
Miscellaneous:
onset in first decade
slow disease progression
adult onset may also occur
affected individuals remain ambulatory in old age

Inheritance:
x-linked recessive


HPO:

31
spinal muscular atrophy, distal, x-linked 3:
Onset and clinical course juvenile onset slow progression
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111196
OMIM 56 300489
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 72 C1845359
Orphanet 58 ORPHA139557
MedGen 41 C1845359
UMLS 71 C1845359

Summaries for Spinal Muscular Atrophy, Distal, X-Linked 3

UniProtKB/Swiss-Prot : 73 Distal spinal muscular atrophy, X-linked, 3: A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.

MalaCards based summary : Spinal Muscular Atrophy, Distal, X-Linked 3, also known as smax3, is related to charcot-marie-tooth disease, x-linked dominant, 1 and menkes disease. An important gene associated with Spinal Muscular Atrophy, Distal, X-Linked 3 is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways/superpathways are Defensins and Copper homeostasis. Affiliated tissues include spinal cord, and related phenotypes are distal sensory impairment and pes cavus

Disease Ontology : 12 A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has material basis in homozygous or hemizygous mutation in ATP7A on Xq21.1.

More information from OMIM: 300489

Related Diseases for Spinal Muscular Atrophy, Distal, X-Linked 3

Diseases related to Spinal Muscular Atrophy, Distal, X-Linked 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked dominant, 1 29.5 PES1 GJB1
2 menkes disease 28.3 PAM DBH CP COX17 ATP7B ATP7A
3 occipital horn syndrome 28.3 PAM DBH CP COX17 ATP7B ATP7A
4 disorder of copper metabolism 10.3 ATP7B ATP7A
5 spinal muscular atrophy 10.3
6 muscular atrophy 10.3
7 neuropathy 10.3
8 charcot-marie-tooth hereditary neuropathy 10.3
9 amyotrophic lateral sclerosis 1 10.3
10 lateral sclerosis 10.3
11 motor neuron disease 10.3
12 myopathy 10.3
13 giant axonal neuropathy 10.3
14 hereditary dystonia 10.3 DBH ATP7B
15 hypermanganesemia with dystonia 2 10.2 SLC33A1 AP1S1
16 hypermanganesemia with dystonia 10.2 SLC33A1 AP1S1
17 neuronopathy, distal hereditary motor, type i 10.1
18 charcot-marie-tooth disease, x-linked recessive, 3 10.1
19 sensory peripheral neuropathy 10.1
20 atp7a-related copper transport disorders 10.1
21 hereditary neuropathies 10.1
22 x-linked distal hereditary motor neuropathy 10.1
23 hemochromatosis, type 5 10.1 SLC33A1 AP1S1
24 indolent systemic mastocytosis 10.0 DBH ATP7A
25 bladder diverticulum 9.8 DBH CP ATP7A
26 scheuermann disease 9.8 PES1 FAM3D
27 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.6 SLC33A1 PAM ATP7B ATP7A AP1S1
28 charcot-marie-tooth disease, x-linked recessive, 2 9.6 PES1 GJB1
29 charcot-marie-tooth disease x-linked recessive 4 9.6 PES1 GJB1
30 charcot-marie-tooth disease type x 9.6 PES1 GJB1
31 charcot-marie-tooth disease, demyelinating, type 4f 9.5 PES1 GJB1
32 charcot-marie-tooth disease, demyelinating, type 1b 9.5 PES1 GJB1
33 wilson disease 9.3 DBH CP ATP7B ATP7A ATOX1
34 metal metabolism disorder 9.3 CP COX17 ATP7B ATP7A ATOX1
35 charcot-marie-tooth disease, demyelinating, type 1a 9.2 PES1 GJB1
36 aceruloplasminemia 9.0 SLC33A1 CP COX17 ATP7B ATP7A ATOX1

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Distal, X-Linked 3:



Diseases related to Spinal Muscular Atrophy, Distal, X-Linked 3

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, X-Linked 3

Human phenotypes related to Spinal Muscular Atrophy, Distal, X-Linked 3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 distal sensory impairment 31 occasional (7.5%) HP:0002936
2 pes cavus 31 HP:0001761
3 hyporeflexia 31 HP:0001265
4 distal amyotrophy 31 HP:0003693
5 unsteady gait 31 HP:0002317
6 distal muscle weakness 31 HP:0002460
7 emg: neuropathic changes 31 HP:0003445
8 spinal muscular atrophy 31 HP:0007269
9 abnormal peripheral nervous system morphology 31 HP:0000759

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes cavus
pes varus

Neurologic Peripheral Nervous System:
peripheral nerve biopsy is normal
mild distal sensory impairment (in some)

Neurologic Central Nervous System:
hyporeflexia
muscle weakness, distal
gait instability
muscle atrophy, distal
lower limbs affected before upper limbs
more

Clinical features from OMIM:

300489

MGI Mouse Phenotypes related to Spinal Muscular Atrophy, Distal, X-Linked 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 ATOX1 ATP7A ATP7B BASP1 CP DBH
2 homeostasis/metabolism MP:0005376 9.85 ATOX1 ATP7A ATP7B COX17 CP DBH
3 mortality/aging MP:0010768 9.7 AP1S1 ATOX1 ATP7A ATP7B BASP1 COX17
4 pigmentation MP:0001186 8.92 ATOX1 ATP7A ATP7B CP

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, X-Linked 3

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, X-Linked 3

Cochrane evidence based reviews: spinal muscular atrophy, distal, x-linked 3

Genetic Tests for Spinal Muscular Atrophy, Distal, X-Linked 3

Genetic tests related to Spinal Muscular Atrophy, Distal, X-Linked 3:

# Genetic test Affiliating Genes
1 Distal Spinal Muscular Atrophy, X-Linked 3 29 ATP7A

Anatomical Context for Spinal Muscular Atrophy, Distal, X-Linked 3

MalaCards organs/tissues related to Spinal Muscular Atrophy, Distal, X-Linked 3:

40
Spinal Cord

Publications for Spinal Muscular Atrophy, Distal, X-Linked 3

Articles related to Spinal Muscular Atrophy, Distal, X-Linked 3:

# Title Authors PMID Year
1
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 56 6
20170900 2010
2
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. 6 56
19153371 2009
3
A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. 6 56
14985388 2004
4
ATP7A-Related Copper Transport Disorders 6
20301586 2003
5
Report of a novel ATP7A mutation causing distal motor neuropathy. 61
31558336 2019
6
X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron. 61
25639447 2015
7
Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis. 61
22900086 2012

Variations for Spinal Muscular Atrophy, Distal, X-Linked 3

ClinVar genetic disease variations for Spinal Muscular Atrophy, Distal, X-Linked 3:

6 (show top 50) (show all 187) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP7A NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)SNV Pathogenic 459840 rs1557237451 X:77289281-77289281 X:78033783-78033783
2 ATP7A NC_000023.10:g.(?_77271231)_(77271398_?)deldeletion Pathogenic 533690 X:77271231-77271398
3 ATP7A NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer)deletion Pathogenic 571199 rs1569549974 X:77270219-77270219 X:78014722-78014722
4 ATP7A NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)SNV Pathogenic 581017 rs1569549699 X:77254175-77254175 X:77998678-77998678
5 ATP7A NM_000052.7(ATP7A):c.453del (p.Thr152fs)deletion Pathogenic 642741 X:77244068-77244068 X:77988572-77988572
6 ATP7A NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)duplication Pathogenic 651544 X:77287035-77287036 X:78031537-78031538
7 ATP7A NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)SNV Pathogenic 657355 X:77298149-77298149 X:78042651-78042651
8 ATP7A NM_000052.7(ATP7A):c.3294+1G>ASNV Pathogenic 648378 X:77287081-77287081 X:78031583-78031583
9 ATP7A NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)deletion Pathogenic 846390 X:77298835-77298835 X:78043337-78043337
10 ATP7A NM_000052.7(ATP7A):c.420_421AG[1] (p.Glu141fs)short repeat Pathogenic 210474 rs797045397 X:77244037-77244038 X:77988541-77988542
11 ATP7A NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)SNV Pathogenic 210395 rs797045332 X:77258665-77258665 X:78003168-78003168
12 ATP7A NM_000052.7(ATP7A):c.2172+5G>CSNV Pathogenic/Likely pathogenic 210415 rs797045347 X:77267176-77267176 X:78011679-78011679
13 ATP7A NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp)SNV Likely pathogenic 549669 rs1557236729 X:77284802-77284802 X:78029305-78029305
14 ATP7A NM_000052.7(ATP7A):c.4006-1G>ASNV Likely pathogenic 465121 rs1557238665 X:77298814-77298814 X:78043316-78043316
15 ATP7A NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys)SNV Conflicting interpretations of pathogenicity 465109 rs944415019 X:77267070-77267070 X:78011573-78011573
16 ATP7A NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)SNV Conflicting interpretations of pathogenicity 391862 rs782196306 X:77245148-77245148 X:77989652-77989652
17 ATP7A NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)SNV Conflicting interpretations of pathogenicity 388685 rs368622356 X:77245118-77245118 X:77989622-77989622
18 ATP7A NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)SNV Conflicting interpretations of pathogenicity 423365 rs782682493 X:77301876-77301876 X:78046379-78046379
19 ATP7A NM_000052.7(ATP7A):c.121-2deldeletion Conflicting interpretations of pathogenicity 451772 rs1287511385 X:77243733-77243733 X:77988237-77988237
20 ATP7A NM_000052.7(ATP7A):c.673A>G (p.Met225Val)SNV Conflicting interpretations of pathogenicity 451328 rs782619990 X:77244791-77244791 X:77989295-77989295
21 ATP7A NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)SNV Conflicting interpretations of pathogenicity 533685 rs150526992 X:77244998-77244998 X:77989502-77989502
22 ATP7A NM_000052.7(ATP7A):c.1251G>T (p.Gly417=)SNV Conflicting interpretations of pathogenicity 682470 X:77245369-77245369 X:77989873-77989873
23 ATP7A NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)SNV Conflicting interpretations of pathogenicity 210436 rs138958687 X:77276563-77276563 X:78021066-78021066
24 ATP7A NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)SNV Conflicting interpretations of pathogenicity 210439 rs797045365 X:77284832-77284832 X:78029335-78029335
25 ATP7A NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)SNV Conflicting interpretations of pathogenicity 210466 rs139781067 X:77298212-77298212 X:78042714-78042714
26 ATP7A NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)SNV Conflicting interpretations of pathogenicity 210393 rs143907597 X:77254154-77254154 X:77998657-77998657
27 ATP7A NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)SNV Conflicting interpretations of pathogenicity 198987 rs146692150 X:77267069-77267069 X:78011572-78011572
28 ATP7A NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)SNV Conflicting interpretations of pathogenicity 11794 rs267606673 X:77284811-77284811 X:78029314-78029314
29 ATP7A NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)SNV Conflicting interpretations of pathogenicity 11795 rs267606672 X:77300999-77300999 X:78045502-78045502
30 ATP7A NM_000052.7(ATP7A):c.922A>G (p.Ile308Val)SNV Conflicting interpretations of pathogenicity 243111 rs782351352 X:77245040-77245040 X:77989544-77989544
31 ATP7A NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)SNV Conflicting interpretations of pathogenicity 243112 rs367775730 X:77271283-77271283 X:78015786-78015786
32 ATP7A NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)SNV Conflicting interpretations of pathogenicity 245706 rs368917354 X:77294387-77294387 X:78038889-78038889
33 ATP7A NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)SNV Conflicting interpretations of pathogenicity 245875 rs372489000 X:77298164-77298164 X:78042666-78042666
34 ATP7A NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)SNV Conflicting interpretations of pathogenicity 245774 rs370736173 X:77298875-77298875 X:78043377-78043377
35 ATP7A NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)SNV Conflicting interpretations of pathogenicity 243114 rs147848649 X:77301928-77301928 X:78046431-78046431
36 ATP7A NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)SNV Conflicting interpretations of pathogenicity 284222 rs143214563 X:77266954-77266954 X:78011457-78011457
37 ATP7A NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)SNV Conflicting interpretations of pathogenicity 284224 rs146651049 X:77298815-77298815 X:78043317-78043317
38 ATP7A NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)SNV Conflicting interpretations of pathogenicity 286130 rs72554638 X:77264625-77264625 X:78009128-78009128
39 ATP7A NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe)SNV Conflicting interpretations of pathogenicity 374773 rs372898963 X:77266696-77266696 X:78011199-78011199
40 ATP7A NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile)SNV Conflicting interpretations of pathogenicity 392215 rs181435872 X:77286898-77286898 X:78031400-78031400
41 ATP7A NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)SNV Uncertain significance 372700 rs539177302 X:77243895-77243895 X:77988399-77988399
42 ATP7A NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile)SNV Uncertain significance 246567 rs782499160 X:77298175-77298175 X:78042677-78042677
43 ATP7A NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg)SNV Uncertain significance 234437 rs375788705 X:77298144-77298144 X:78042646-78042646
44 ATP7A NM_000052.7(ATP7A):c.1947-5A>GSNV Uncertain significance 665476 X:77266941-77266941 X:78011444-78011444
45 ATP7A NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser)SNV Uncertain significance 643827 X:77298871-77298871 X:78043373-78043373
46 ATP7A NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)SNV Uncertain significance 639627 X:77301920-77301920 X:78046423-78046423
47 ATP7A NM_000052.7(ATP7A):c.2498+3A>TSNV Uncertain significance 665001 X:77270253-77270253 X:78014756-78014756
48 ATP7A NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser)SNV Uncertain significance 664180 X:77289269-77289269 X:78033771-78033771
49 ATP7A NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg)SNV Uncertain significance 650145 X:77296131-77296131 X:78040633-78040633
50 ATP7A NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe)SNV Uncertain significance 655202 X:77296154-77296154 X:78040656-78040656

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Distal, X-Linked 3:

73
# Symbol AA change Variation ID SNP ID
1 ATP7A p.Thr994Ile VAR_063882 rs267606673
2 ATP7A p.Pro1386Ser VAR_063884 rs267606672

Expression for Spinal Muscular Atrophy, Distal, X-Linked 3

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, X-Linked 3.

Pathways for Spinal Muscular Atrophy, Distal, X-Linked 3

Pathways related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 DEFB110 ATP7A ATOX1
2 10.75 COX17 COX11 ATP7B ATP7A ATOX1
3 10.42 ATP7B ATP7A

GO Terms for Spinal Muscular Atrophy, Distal, X-Linked 3

Cellular components related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network GO:0005802 8.8 PAM ATP7B ATP7A

Biological processes related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lactation GO:0007595 9.58 PAM ATP7B ATP7A
2 metal ion transport GO:0030001 9.5 ATP7B ATP7A ATOX1
3 blood vessel remodeling GO:0001974 9.48 DBH ATP7A
4 response to zinc ion GO:0010043 9.46 PAM ATP7A
5 copper ion import GO:0015677 9.43 ATP7B ATP7A
6 response to copper ion GO:0046688 9.43 PAM ATP7B ATP7A
7 divalent inorganic cation transport GO:0072511 9.37 ATP7B ATP7A
8 cellular copper ion homeostasis GO:0006878 9.33 ATP7B ATP7A ATOX1
9 copper ion export GO:0060003 9.13 ATP7B ATP7A ATOX1
10 copper ion transport GO:0006825 9.02 CP COX17 ATP7B ATP7A ATOX1

Molecular functions related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 L-ascorbic acid binding GO:0031418 9.46 PAM DBH
2 cation-transporting ATPase activity GO:0019829 9.43 ATP7B ATP7A
3 cuprous ion binding GO:1903136 9.4 COX17 ATP7A
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen GO:0016715 9.37 PAM DBH
5 copper ion transmembrane transporter activity GO:0005375 9.32 ATP7B ATP7A
6 copper-dependent protein binding GO:0032767 9.26 ATP7A ATOX1
7 copper ion binding GO:0005507 9.23 PAM DBH CP COX17 COX11 ATP7B
8 copper-transporting ATPase activity GO:0043682 9.16 ATP7B ATP7A
9 copper chaperone activity GO:0016531 8.96 COX17 ATOX1

Sources for Spinal Muscular Atrophy, Distal, X-Linked 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....