SPG57
MCID: SPS137
MIFTS: 35

Spastic Paraplegia 57, Autosomal Recessive (SPG57)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 57, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 57, Autosomal Recessive:

Name: Spastic Paraplegia 57, Autosomal Recessive 58 76 30 6 74
Spg57 58 12 60 76
Autosomal Recessive Spastic Paraplegia Type 57 12 60 17
Hereditary Spastic Paraplegia 57 12 15
Paraplegia, Spastic, Type 57, Autosomal Recessive 41
Spastic Paraplegia Due to Partial Tfg Deficiency 60
Autosomal Recessive Spastic Paraplegia 57 12

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive spastic paraplegia type 57
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in first years of life
one family has been reported (last curated february 2014)


HPO:

33
spastic paraplegia 57, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Paraplegia 57, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 Spastic paraplegia 57, autosomal recessive: A complicated form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations.

MalaCards based summary : Spastic Paraplegia 57, Autosomal Recessive, also known as spg57, is related to hereditary motor and sensory neuropathy, type iic and amyotrophic lateral sclerosis type 5, and has symptoms including unspecified visual loss An important gene associated with Spastic Paraplegia 57, Autosomal Recessive is TFG (Trafficking From ER To Golgi Regulator). Affiliated tissues include eye, skin and bone, and related phenotypes are abnormality of peripheral nerve conduction and difficulty climbing stairs

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the TFG gene on chromosome 3q12.

Description from OMIM: 615658

Related Diseases for Spastic Paraplegia 57, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23, Autosomal Recessive Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 47
Spastic Paraplegia 51 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia Type 49
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 69 Autosomal Recessive Spastic Paraplegia Type 70
Autosomal Recessive Spastic Paraplegia Type 71 Autosomal Recessive Spastic Paraplegia Type 66
Autosomal Recessive Spastic Paraplegia Type 67 Autosomal Dominant Spastic Paraplegia Type 9b

Diseases related to Spastic Paraplegia 57, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy, type iic 9.7 SPG11 TFG
2 amyotrophic lateral sclerosis type 5 9.7 ALS2 SPG11
3 lateral sclerosis 9.7 ALS2 SPG11
4 charcot-marie-tooth disease, axonal, type 2e 9.7 SPG11 TFG
5 juvenile amyotrophic lateral sclerosis 9.7 ALS2 SPG11
6 charcot-marie-tooth disease 9.6 SPG11 TFG
7 amyotrophic lateral sclerosis 1 9.4 ALS2 SPG11
8 hereditary spastic paraplegia 9.1 ALS2 SACS SPG11 TFG

Graphical network of the top 20 diseases related to Spastic Paraplegia 57, Autosomal Recessive:



Diseases related to Spastic Paraplegia 57, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 57, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 57, Autosomal Recessive:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of peripheral nerve conduction 60 33 obligate (100%) Obligate (100%) HP:0003134
2 difficulty climbing stairs 60 33 obligate (100%) Obligate (100%) HP:0003551
3 difficulty standing 60 33 obligate (100%) Obligate (100%) HP:0003698
4 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
5 babinski sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0003487
6 inability to walk 60 33 hallmark (90%) Very frequent (99-80%) HP:0002540
7 spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001258
8 abnormal myelination 60 33 hallmark (90%) Very frequent (99-80%) HP:0012447
9 sensorimotor neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007141
10 abnormality of the achilles tendon 60 33 hallmark (90%) Very frequent (99-80%) HP:0005109
11 distal lower limb amyotrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008944
12 motor polyneuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007178
13 spasticity 60 Very frequent (99-80%)
14 hyperreflexia 33 HP:0001347
15 peripheral neuropathy 60 Very frequent (99-80%)
16 visual loss 33 HP:0000572
17 sensory impairment 33 HP:0003474

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
extensor plantar responses
inability to walk independently
normal early developmental milestones
spasticity, severe, affecting lower limbs

Muscle Soft Tissue:
muscle weakness and atrophy, upper and lower limbs

Neurologic Peripheral Nervous System:
axonal and demyelinating sensorimotor neuropathy
mild sensory impairment

Head And Neck Eyes:
optic atrophy
visual loss

Skeletal Limbs:
contractures of the lower limbs

Clinical features from OMIM:

615658

UMLS symptoms related to Spastic Paraplegia 57, Autosomal Recessive:


unspecified visual loss

GenomeRNAi Phenotypes related to Spastic Paraplegia 57, Autosomal Recessive according to GeneCards Suite gene sharing:

27 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.85 SACS
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.85 SACS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.85 SACS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.85 SACS TFG
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.85 TFG
6 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.85 SACS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.85 SACS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.85 SACS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.85 TFG
10 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.85 TFG
11 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.85 SACS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.85 SACS TFG
13 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.85 TFG
14 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.85 TFG
15 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.85 SACS

Drugs & Therapeutics for Spastic Paraplegia 57, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 57, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 57, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 57, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 57, Autosomal Recessive 30 TFG

Anatomical Context for Spastic Paraplegia 57, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 57, Autosomal Recessive:

42
Eye, Skin, Bone

Publications for Spastic Paraplegia 57, Autosomal Recessive

Articles related to Spastic Paraplegia 57, Autosomal Recessive:

# Title Authors Year
1
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. ( 27601211 )
2016
2
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. ( 23479643 )
2013

Variations for Spastic Paraplegia 57, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 57, Autosomal Recessive:

76
# Symbol AA change Variation ID SNP ID
1 TFG p.Arg106Cys VAR_070986 rs587777175
2 TFG p.Arg106His VAR_078075 rs376971794

ClinVar genetic disease variations for Spastic Paraplegia 57, Autosomal Recessive:

6 (show top 50) (show all 79)
# Gene Variation Type Significance SNP ID Assembly Location
1 TFG NM_006070.5(TFG): c.854C> T (p.Pro285Leu) single nucleotide variant Pathogenic rs207482230 GRCh37 Chromosome 3, 100467026: 100467026
2 TFG NM_006070.5(TFG): c.854C> T (p.Pro285Leu) single nucleotide variant Pathogenic rs207482230 GRCh38 Chromosome 3, 100748182: 100748182
3 TFG NM_001007565.2(TFG): c.316C> T (p.Arg106Cys) single nucleotide variant Pathogenic rs587777175 GRCh37 Chromosome 3, 100447603: 100447603
4 TFG NM_001007565.2(TFG): c.316C> T (p.Arg106Cys) single nucleotide variant Pathogenic rs587777175 GRCh38 Chromosome 3, 100728759: 100728759
5 TFG NM_006070.5(TFG): c.1006C> T (p.Pro336Ser) single nucleotide variant Uncertain significance rs371681149 GRCh37 Chromosome 3, 100467178: 100467178
6 TFG NM_006070.5(TFG): c.1006C> T (p.Pro336Ser) single nucleotide variant Uncertain significance rs371681149 GRCh38 Chromosome 3, 100748334: 100748334
7 TFG NM_006070.5(TFG): c.1060C> G (p.Pro354Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs111356679 GRCh37 Chromosome 3, 100467232: 100467232
8 TFG NM_006070.5(TFG): c.1060C> G (p.Pro354Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs111356679 GRCh38 Chromosome 3, 100748388: 100748388
9 TFG NM_006070.5(TFG): c.258G> T (p.Leu86=) single nucleotide variant Benign/Likely benign rs150620449 GRCh37 Chromosome 3, 100438892: 100438892
10 TFG NM_006070.5(TFG): c.258G> T (p.Leu86=) single nucleotide variant Benign/Likely benign rs150620449 GRCh38 Chromosome 3, 100720048: 100720048
11 TFG NM_006070.5(TFG): c.663C> A (p.Gly221=) single nucleotide variant Benign rs140669729 GRCh37 Chromosome 3, 100455502: 100455502
12 TFG NM_006070.5(TFG): c.663C> A (p.Gly221=) single nucleotide variant Benign rs140669729 GRCh38 Chromosome 3, 100736658: 100736658
13 TFG NM_006070.5(TFG): c.722-8G> T single nucleotide variant Benign rs41272979 GRCh37 Chromosome 3, 100463669: 100463669
14 TFG NM_006070.5(TFG): c.722-8G> T single nucleotide variant Benign rs41272979 GRCh38 Chromosome 3, 100744825: 100744825
15 TFG NM_006070.5(TFG): c.945G> A (p.Pro315=) single nucleotide variant Benign rs61736338 GRCh37 Chromosome 3, 100467117: 100467117
16 TFG NM_006070.5(TFG): c.945G> A (p.Pro315=) single nucleotide variant Benign rs61736338 GRCh38 Chromosome 3, 100748273: 100748273
17 TFG NM_006070.5(TFG): c.416-9T> C single nucleotide variant Benign rs115896544 GRCh37 Chromosome 3, 100451343: 100451343
18 TFG NM_006070.5(TFG): c.416-9T> C single nucleotide variant Benign rs115896544 GRCh38 Chromosome 3, 100732499: 100732499
19 TFG NM_006070.5(TFG): c.552G> A (p.Ala184=) single nucleotide variant Benign rs35648279 GRCh37 Chromosome 3, 100451488: 100451488
20 TFG NM_006070.5(TFG): c.552G> A (p.Ala184=) single nucleotide variant Benign rs35648279 GRCh38 Chromosome 3, 100732644: 100732644
21 TFG NM_006070.5(TFG): c.391C> T (p.Pro131Ser) single nucleotide variant Uncertain significance rs770053266 GRCh38 Chromosome 3, 100728834: 100728834
22 TFG NM_006070.5(TFG): c.391C> T (p.Pro131Ser) single nucleotide variant Uncertain significance rs770053266 GRCh37 Chromosome 3, 100447678: 100447678
23 TFG NM_006070.5(TFG): c.594T> G (p.Ala198=) single nucleotide variant Benign rs12562 GRCh38 Chromosome 3, 100736589: 100736589
24 TFG NM_006070.5(TFG): c.594T> G (p.Ala198=) single nucleotide variant Benign rs12562 GRCh37 Chromosome 3, 100455433: 100455433
25 TFG NM_006070.5(TFG): c.1014T> G (p.Asn338Lys) single nucleotide variant Uncertain significance rs1553704923 GRCh38 Chromosome 3, 100748342: 100748342
26 TFG NM_006070.5(TFG): c.1014T> G (p.Asn338Lys) single nucleotide variant Uncertain significance rs1553704923 GRCh37 Chromosome 3, 100467186: 100467186
27 TFG NM_006070.5(TFG): c.415+7C> G single nucleotide variant Benign rs149927288 GRCh37 Chromosome 3, 100447709: 100447709
28 TFG NM_006070.5(TFG): c.415+7C> G single nucleotide variant Benign rs149927288 GRCh38 Chromosome 3, 100728865: 100728865
29 TFG NM_006070.5(TFG): c.980A> G (p.Gln327Arg) single nucleotide variant Uncertain significance rs1431898500 GRCh37 Chromosome 3, 100467152: 100467152
30 TFG NM_006070.5(TFG): c.980A> G (p.Gln327Arg) single nucleotide variant Uncertain significance rs1431898500 GRCh38 Chromosome 3, 100748308: 100748308
31 TFG NM_006070.5(TFG): c.1070A> G (p.Tyr357Cys) single nucleotide variant Uncertain significance rs1375662436 GRCh37 Chromosome 3, 100467242: 100467242
32 TFG NM_006070.5(TFG): c.1070A> G (p.Tyr357Cys) single nucleotide variant Uncertain significance rs1375662436 GRCh38 Chromosome 3, 100748398: 100748398
33 TFG NM_006070.5(TFG): c.225C> G (p.Ser75=) single nucleotide variant Likely benign rs747353898 GRCh38 Chromosome 3, 100720015: 100720015
34 TFG NM_006070.5(TFG): c.225C> G (p.Ser75=) single nucleotide variant Likely benign rs747353898 GRCh37 Chromosome 3, 100438859: 100438859
35 TFG NM_006070.5(TFG): c.988A> G (p.Thr330Ala) single nucleotide variant Likely benign rs145835282 GRCh38 Chromosome 3, 100748316: 100748316
36 TFG NM_006070.5(TFG): c.988A> G (p.Thr330Ala) single nucleotide variant Likely benign rs145835282 GRCh37 Chromosome 3, 100467160: 100467160
37 TFG NC_000003.12: g.(?_100713666)_(100720078_?)dup duplication Likely benign GRCh38 Chromosome 3, 100713666: 100720078
38 TFG NM_006070.5(TFG): c.185-10T> A single nucleotide variant Likely benign rs79631225 GRCh38 Chromosome 3, 100719965: 100719965
39 TFG NM_006070.5(TFG): c.185-10T> A single nucleotide variant Likely benign rs79631225 GRCh37 Chromosome 3, 100438809: 100438809
40 TFG NM_006070.5(TFG): c.185-10T> C single nucleotide variant Benign rs79631225 GRCh38 Chromosome 3, 100719965: 100719965
41 TFG NM_006070.5(TFG): c.185-10T> C single nucleotide variant Benign rs79631225 GRCh37 Chromosome 3, 100438809: 100438809
42 TFG NM_006070.5(TFG): c.1090A> C (p.Thr364Pro) single nucleotide variant Benign rs6772054 GRCh38 Chromosome 3, 100748418: 100748418
43 TFG NM_006070.5(TFG): c.1090A> C (p.Thr364Pro) single nucleotide variant Benign rs6772054 GRCh37 Chromosome 3, 100467262: 100467262
44 TFG NM_006070.5(TFG): c.944C> T (p.Pro315Leu) single nucleotide variant Uncertain significance rs753375115 GRCh37 Chromosome 3, 100467116: 100467116
45 TFG NM_006070.5(TFG): c.944C> T (p.Pro315Leu) single nucleotide variant Uncertain significance rs753375115 GRCh38 Chromosome 3, 100748272: 100748272
46 TFG NM_006070.5(TFG): c.309A> G (p.Lys103=) single nucleotide variant Uncertain significance rs369508900 GRCh37 Chromosome 3, 100447596: 100447596
47 TFG NM_006070.5(TFG): c.309A> G (p.Lys103=) single nucleotide variant Uncertain significance rs369508900 GRCh38 Chromosome 3, 100728752: 100728752
48 TFG NM_006070.5(TFG): c.672A> C (p.Pro224=) single nucleotide variant Likely benign rs141412018 GRCh37 Chromosome 3, 100455511: 100455511
49 TFG NM_006070.5(TFG): c.672A> C (p.Pro224=) single nucleotide variant Likely benign rs141412018 GRCh38 Chromosome 3, 100736667: 100736667
50 TFG NM_006070.5(TFG): c.1094C> T (p.Ser365Leu) single nucleotide variant Uncertain significance rs1288104441 GRCh37 Chromosome 3, 100467266: 100467266

Expression for Spastic Paraplegia 57, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 57, Autosomal Recessive.

Pathways for Spastic Paraplegia 57, Autosomal Recessive

GO Terms for Spastic Paraplegia 57, Autosomal Recessive

Cellular components related to Spastic Paraplegia 57, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.13 ALS2 SACS SPG11
2 axon GO:0030424 8.8 ALS2 SACS SPG11

Sources for Spastic Paraplegia 57, Autosomal Recessive

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