MCID: CHR105
MIFTS: 46

Choreoacanthocytosis

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Choreoacanthocytosis

MalaCards integrated aliases for Choreoacanthocytosis:

Name: Choreoacanthocytosis 57 24 53 25 54 59 75 37 29 13 6 40
Neuroacanthocytosis 57 12 76 53 25 54 75 55 44 15
Chorea-Acanthocytosis 57 24 53 25 59 75 55 15
Chac 57 24 53 25 59 75
Levine-Critchley Syndrome 57 12 54 59 75
Acanthocytosis with Neurologic Disorder 57 53 75
Chorea Acanthocytosis 76 53
Chorea Acanthocytosis Syndrome 73
Neuroacanthocytosis Syndrome 53
Choreo-Acanthocytosis 12
Acanthocytosis Chorea 76
Choreaacanthocytosis 12

Characteristics:

Orphanet epidemiological data:

59
choreoacanthocytosis
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
clinical variability
age of onset 23-59 years
neurologic findings closely resemble those of huntington disease (hd, )


HPO:

32
choreoacanthocytosis:
Mortality/Aging death in early adulthood
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Choreoacanthocytosis

NINDS : 54 Neuroacanthocytosis refers to a group of genetic conditions that are characterized by movement disorders and acanthocytosis (abnormal, spiculated red blood cells). Four syndromes are classified as neuroacanthocytosis: Chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 (HDL2), and panthothenate kinase-associated neurodegeneration (PKAN). Acanthocytosis may not always be observed in HDL2 and PKAN. These disorders are caused by different genetic mutations, and the signs and symptoms vary, but usually include chorea (involuntary, dance-like movements), parkinsonism (slowness of movement), dystonia (abnormal body postures), and problems walking. There may also be muscle weakness, involuntary movements of the face and tongue, tongue/lip biting (which is mostly characteristic of Chorea-acanthocytosis), as well as difficulty with speech and eating, cognitive impairment, psychiatric symptoms, and seizures. Individuals with McLeod syndrome often have cardiac problems. Many features of these disorders are due to degeneration of the basal ganglia, a part of the brain that controls movement. Additional disorders that are also known have neurologic symptoms, acanthocytosis, and either lipoprotein disorders or systemic findings. The diagnosis of neuroacanthocytosis is typically based on the symptoms and clinical observation, a review of family history, and the evaluation of specific laboratory and imaging studies.

MalaCards based summary : Choreoacanthocytosis, also known as neuroacanthocytosis, is related to mcleod syndrome and choreoacanthocytosis amyotrophic, and has symptoms including seizures, personality changes and recurrent muscle twitches (symptom). An important gene associated with Choreoacanthocytosis is VPS13A (Vacuolar Protein Sorting 13 Homolog A). Affiliated tissues include tongue, brain and eye, and related phenotypes are nystagmus and seizures

OMIM : 57 Choreoacanthocytosis (CHAC) is a rare disorder characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life (Rubio et al., 1997). See also McLeod syndrome (300842) for a phenotypically similar disorder. (200150)

UniProtKB/Swiss-Prot : 75 Choreoacanthocytosis: An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self- mutilation.

NIH Rare Diseases : 53 Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner. There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. 

Genetics Home Reference : 25 Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.

Disease Ontology : 12 A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has material basis in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.

Wikipedia : 76 Chorea-acanthocytosis (ChAc, also called Choreoacanthocytosis), is a rare hereditary disease caused by a... more...

GeneReviews: NBK1387

Related Diseases for Choreoacanthocytosis

Graphical network of the top 20 diseases related to Choreoacanthocytosis:



Diseases related to Choreoacanthocytosis

Symptoms & Phenotypes for Choreoacanthocytosis

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
dysarthria
dystonia
hyporeflexia
parkinsonism
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
psychosis
disinhibition
personality changes
mood changes
more
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Head And Neck Face:
orofacial dyskinesia

Hematology:
acanthocytes

Abdomen Gastrointestinal:
dysphagia
drooling

Skeletal Feet:
pes cavus

Muscle Soft Tissue:
limb muscle weakness
limb muscular atrophy

Head And Neck Neck:
neck flexion, intermittent

Laboratory Abnormalities:
increased creatine kinase
normal serum lipoprotein levels


Clinical features from OMIM:

200150

Human phenotypes related to Choreoacanthocytosis:

59 32 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
6 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
7 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
8 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
9 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
10 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
11 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
12 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
13 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
14 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
15 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
16 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
17 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
18 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
19 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
20 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
21 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
22 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
23 elevated serum creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0003236
24 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
25 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
26 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
27 abnormal bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0001892
28 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
29 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
30 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
31 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
32 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
33 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
34 elevated hepatic transaminases 59 32 occasional (7.5%) Occasional (29-5%) HP:0002910
35 abnormality of the foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001760
36 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
37 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
38 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
39 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
40 protruding tongue 59 32 frequent (33%) Frequent (79-30%) HP:0010808
41 areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001284
42 dysgraphia 59 32 frequent (33%) Frequent (79-30%) HP:0010526
43 acute hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0006554
44 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
45 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
46 abnormality of the thyroid gland 59 32 occasional (7.5%) Occasional (29-5%) HP:0000820
47 muscle fiber atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0100295
48 limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003690
49 abnormal urinary color 59 32 frequent (33%) Frequent (79-30%) HP:0012086
50 acanthocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001927

UMLS symptoms related to Choreoacanthocytosis:


seizures, personality changes, recurrent muscle twitches (symptom)

Drugs & Therapeutics for Choreoacanthocytosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Heart and Skeletal Muscle Problems in Neuroacanthocytosis Completed NCT00007228

Search NIH Clinical Center for Choreoacanthocytosis

Cochrane evidence based reviews: neuroacanthocytosis

Genetic Tests for Choreoacanthocytosis

Genetic tests related to Choreoacanthocytosis:

# Genetic test Affiliating Genes
1 Choreoacanthocytosis 29 VPS13A

Anatomical Context for Choreoacanthocytosis

MalaCards organs/tissues related to Choreoacanthocytosis:

41
Tongue, Brain, Eye, Skeletal Muscle, Skin, Heart, Thyroid

Publications for Choreoacanthocytosis

Articles related to Choreoacanthocytosis:

(show all 16)
# Title Authors Year
1
Sarcoidosis: a rare cause of Kleine-Levine-Critchley syndrome. ( 19070262 )
2008
2
Choreoacanthocytosis in a Mexican family. ( 17998451 )
2007
3
A case of choreoacanthocytosis with marked weight loss: impact of orolingual dyskinesia. ( 16936394 )
2006
4
Early clinical heterogeneity in choreoacanthocytosis. ( 15824261 )
2005
5
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. ( 16060937 )
2005
6
Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis. ( 11254778 )
2001
7
Case study: childhood-onset tardive dyskinesia versus choreoacanthocytosis. ( 10939235 )
2000
8
Choreoacanthocytosis. ( 7852238 )
1994
9
Choreoacanthocytosis with marked dysphagia and laryngeal dystonia. ( 1816230 )
1991
10
Diagnostic tests for choreoacanthocytosis. ( 1829792 )
1991
11
Neuropsychological deficits in choreoacanthocytosis. ( 2712754 )
1989
12
Choreoacanthocytosis in a Chinese patient--a case report. ( 2617308 )
1989
13
Amyotrophic choreoacanthocytosis: is it really a very rare disease? ( 3804706 )
1986
14
Evoked potentials in choreoacanthocytosis. ( 2419092 )
1986
15
Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome) ( 4058764 )
1985
16
Choreoacanthocytosis. Clues to clinical diagnosis. ( 6453575 )
1981

Variations for Choreoacanthocytosis

UniProtKB/Swiss-Prot genetic disease variations for Choreoacanthocytosis:

75
# Symbol AA change Variation ID SNP ID
1 VPS13A p.Ser1452Pro VAR_012803
2 VPS13A p.Ile90Lys VAR_038420 rs119477052
3 VPS13A p.Tyr2721Cys VAR_038421 rs781395681
4 VPS13A p.Ala1095Pro VAR_058116
5 VPS13A p.Trp2460Arg VAR_058120

ClinVar genetic disease variations for Choreoacanthocytosis:

6
(show top 50) (show all 254)
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS13A VPS13A, 8035G-A deletion Pathogenic
2 VPS13A VPS13A, 1-BP DEL, 6059C deletion Pathogenic
3 VPS13A NM_033305.2(VPS13A): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119477053 GRCh38 Chromosome 9, 77213240: 77213240
4 VPS13A NM_033305.2(VPS13A): c.269T> A (p.Ile90Lys) single nucleotide variant Pathogenic rs119477052 GRCh37 Chromosome 9, 79820310: 79820310
5 VPS13A NM_033305.2(VPS13A): c.269T> A (p.Ile90Lys) single nucleotide variant Pathogenic rs119477052 GRCh38 Chromosome 9, 77205394: 77205394
6 VPS13A VPS13A, 1-BP INS, 6404T insertion Pathogenic
7 VPS13A VPS13A, 260-BP DEL deletion Pathogenic
8 VPS13A NM_033305.2(VPS13A): c.622C> T (p.Arg208Ter) single nucleotide variant Pathogenic rs119477053 GRCh37 Chromosome 9, 79828156: 79828156
9 VPS13A VPS13A, 7-KB DEL deletion Pathogenic
10 VPS13A VPS13A, 37-KB DEL deletion Pathogenic
11 VPS13A VPS13A, 2-BP DUP, 3556AC duplication Pathogenic
12 VPS13A VPS13A, TRP435TER undetermined variant Pathogenic
13 VPS13A NM_033305.2(VPS13A): c.-181G> A single nucleotide variant Likely benign rs117488726 GRCh37 Chromosome 9, 79792440: 79792440
14 VPS13A NM_033305.2(VPS13A): c.-181G> A single nucleotide variant Likely benign rs117488726 GRCh38 Chromosome 9, 77177524: 77177524
15 VPS13A NM_033305.2(VPS13A): c.101-14T> G single nucleotide variant Uncertain significance rs202024224 GRCh37 Chromosome 9, 79814847: 79814847
16 VPS13A NM_033305.2(VPS13A): c.101-14T> G single nucleotide variant Uncertain significance rs202024224 GRCh38 Chromosome 9, 77199931: 77199931
17 VPS13A NM_033305.2(VPS13A): c.2440A> G (p.Thr814Ala) single nucleotide variant Uncertain significance rs564878665 GRCh37 Chromosome 9, 79888208: 79888208
18 VPS13A NM_033305.2(VPS13A): c.989+28delT deletion Uncertain significance rs1057515648 GRCh37 Chromosome 9, 79835327: 79835327
19 VPS13A NM_033305.2(VPS13A): c.989+28delT deletion Uncertain significance rs1057515648 GRCh38 Chromosome 9, 77220411: 77220411
20 VPS13A NM_033305.2(VPS13A): c.2440A> G (p.Thr814Ala) single nucleotide variant Uncertain significance rs564878665 GRCh38 Chromosome 9, 77273292: 77273292
21 VPS13A NM_033305.2(VPS13A): c.1303T> C (p.Trp435Arg) single nucleotide variant Uncertain significance rs550188251 GRCh37 Chromosome 9, 79841460: 79841460
22 VPS13A NM_033305.2(VPS13A): c.1303T> C (p.Trp435Arg) single nucleotide variant Uncertain significance rs550188251 GRCh38 Chromosome 9, 77226544: 77226544
23 VPS13A NM_033305.2(VPS13A): c.2718A> G (p.Val906=) single nucleotide variant Likely benign rs79287753 GRCh37 Chromosome 9, 79891031: 79891031
24 VPS13A NM_033305.2(VPS13A): c.1758T> C (p.Ala586=) single nucleotide variant Uncertain significance rs149037185 GRCh37 Chromosome 9, 79853080: 79853080
25 VPS13A NM_033305.2(VPS13A): c.1758T> C (p.Ala586=) single nucleotide variant Uncertain significance rs149037185 GRCh38 Chromosome 9, 77238164: 77238164
26 VPS13A NM_033305.2(VPS13A): c.1792G> C (p.Val598Leu) single nucleotide variant Uncertain significance rs759600403 GRCh37 Chromosome 9, 79853194: 79853194
27 VPS13A NM_033305.2(VPS13A): c.1792G> C (p.Val598Leu) single nucleotide variant Uncertain significance rs759600403 GRCh38 Chromosome 9, 77238278: 77238278
28 VPS13A NM_033305.2(VPS13A): c.2124A> G (p.Ser708=) single nucleotide variant Uncertain significance rs199682779 GRCh37 Chromosome 9, 79865099: 79865099
29 VPS13A NM_033305.2(VPS13A): c.2124A> G (p.Ser708=) single nucleotide variant Uncertain significance rs199682779 GRCh38 Chromosome 9, 77250183: 77250183
30 VPS13A NM_033305.2(VPS13A): c.2201G> A (p.Ser734Asn) single nucleotide variant Uncertain significance rs117320408 GRCh37 Chromosome 9, 79867181: 79867181
31 VPS13A NM_033305.2(VPS13A): c.2201G> A (p.Ser734Asn) single nucleotide variant Uncertain significance rs117320408 GRCh38 Chromosome 9, 77252265: 77252265
32 VPS13A NM_033305.2(VPS13A): c.2718A> G (p.Val906=) single nucleotide variant Likely benign rs79287753 GRCh38 Chromosome 9, 77276115: 77276115
33 VPS13A NM_033305.2(VPS13A): c.2964+13A> G single nucleotide variant Likely benign rs115996561 GRCh37 Chromosome 9, 79896855: 79896855
34 VPS13A NM_033305.2(VPS13A): c.2964+13A> G single nucleotide variant Likely benign rs115996561 GRCh38 Chromosome 9, 77281939: 77281939
35 VPS13A NM_033305.2(VPS13A): c.3282C> T (p.Asn1094=) single nucleotide variant Uncertain significance rs372019796 GRCh37 Chromosome 9, 79898509: 79898509
36 VPS13A NM_033305.2(VPS13A): c.3282C> T (p.Asn1094=) single nucleotide variant Uncertain significance rs372019796 GRCh38 Chromosome 9, 77283593: 77283593
37 VPS13A NM_033305.2(VPS13A): c.3645C> A (p.Ala1215=) single nucleotide variant Uncertain significance rs138687767 GRCh38 Chromosome 9, 77295679: 77295679
38 VPS13A NM_033305.2(VPS13A): c.3645C> A (p.Ala1215=) single nucleotide variant Uncertain significance rs138687767 GRCh37 Chromosome 9, 79910595: 79910595
39 VPS13A NM_033305.2(VPS13A): c.3706C> T (p.Leu1236=) single nucleotide variant Uncertain significance rs189138644 GRCh38 Chromosome 9, 77295740: 77295740
40 VPS13A NM_033305.2(VPS13A): c.3706C> T (p.Leu1236=) single nucleotide variant Uncertain significance rs189138644 GRCh37 Chromosome 9, 79910656: 79910656
41 VPS13A NM_033305.2(VPS13A): c.3961-6delT deletion Likely benign rs1057515655 GRCh38 Chromosome 9, 77307939: 77307939
42 VPS13A NM_033305.2(VPS13A): c.3961-6delT deletion Likely benign rs1057515655 GRCh37 Chromosome 9, 79922855: 79922855
43 VPS13A NM_033305.2(VPS13A): c.4041C> T (p.Ala1347=) single nucleotide variant Likely benign rs74983687 GRCh38 Chromosome 9, 77308025: 77308025
44 VPS13A NM_033305.2(VPS13A): c.4041C> T (p.Ala1347=) single nucleotide variant Likely benign rs74983687 GRCh37 Chromosome 9, 79922941: 79922941
45 VPS13A NM_033305.2(VPS13A): c.4390C> A (p.His1464Asn) single nucleotide variant Uncertain significance rs148891181 GRCh37 Chromosome 9, 79929558: 79929558
46 VPS13A NM_033305.2(VPS13A): c.4390C> A (p.His1464Asn) single nucleotide variant Uncertain significance rs148891181 GRCh38 Chromosome 9, 77314642: 77314642
47 VPS13A NM_033305.2(VPS13A): c.4469G> A (p.Arg1490Lys) single nucleotide variant Likely benign rs76077278 GRCh37 Chromosome 9, 79930225: 79930225
48 VPS13A NM_033305.2(VPS13A): c.4469G> A (p.Arg1490Lys) single nucleotide variant Likely benign rs76077278 GRCh38 Chromosome 9, 77315309: 77315309
49 VPS13A NM_033305.2(VPS13A): c.4979C> G (p.Thr1660Ser) single nucleotide variant Uncertain significance rs139073067 GRCh37 Chromosome 9, 79933173: 79933173
50 VPS13A NM_033305.2(VPS13A): c.4979C> G (p.Thr1660Ser) single nucleotide variant Uncertain significance rs139073067 GRCh38 Chromosome 9, 77318257: 77318257

Expression for Choreoacanthocytosis

Search GEO for disease gene expression data for Choreoacanthocytosis.

Pathways for Choreoacanthocytosis

GO Terms for Choreoacanthocytosis

Cellular components related to Choreoacanthocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extrinsic component of membrane GO:0019898 8.8 VPS13A VPS13C VPS13D

Biological processes related to Choreoacanthocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 9.46 KEL XK
2 myelination GO:0042552 9.43 KEL XK
3 skeletal muscle fiber development GO:0048741 9.4 KEL XK
4 regulation of cell size GO:0008361 9.37 KEL XK
5 Golgi to endosome transport GO:0006895 9.32 VPS13A VPS13C
6 cellular magnesium ion homeostasis GO:0010961 9.26 KEL XK
7 regulation of axon diameter GO:0031133 9.16 KEL XK
8 protein targeting to vacuole GO:0006623 9.13 VPS13A VPS13C VPS13D
9 protein retention in Golgi apparatus GO:0045053 8.8 VPS13A VPS13C VPS13D

Sources for Choreoacanthocytosis

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