NBIA4
MCID: NRD014
MIFTS: 39

Neurodegeneration with Brain Iron Accumulation 4 (NBIA4)

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

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 4

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 4:

Name: Neurodegeneration with Brain Iron Accumulation 4 58 12 76 30 13 6 15 74
Nbia4 58 12 60 76
Mpan 58 12 60 76
Neurodegeneration with Brain Iron Accumulation Due to C19orf12 Mutation 12 60
Neurodegeneration with Brain Iron Accumulation Type 4 12 60
Mitochondrial Protein-Associated Neurodegeneration 58 12
Nbia Due to C19orf12 Mutation 12 60
Mitochondrial Membrane Protein-Associated Neurodegeneration 60
Mitochondrial Membrane Protein Associated Neurodegeneration 76
Mitochondrial Protein-Associated Neurodegeneration; Mpan 58
Neurodegeneration, with Brain Iron Accumulation, Type 4 41

Characteristics:

Orphanet epidemiological data:

60
mitochondrial membrane protein-associated neurodegeneration
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: adult,young Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
progressive disorder
later onset has been reported
onset usually in first decade
some patients may become wheelchair-bound


HPO:

33
neurodegeneration with brain iron accumulation 4:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation 4

OMIM : 58 Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by Dogu et al., 2013). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay (Deschauer et al., 2012) For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). (614298)

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 4, also known as nbia4, is related to neurodegeneration with brain iron accumulation and mitochondrial membrane protein-associated neurodegeneration, and has symptoms including ataxia, tremor and abnormality of extrapyramidal motor function. An important gene associated with Neurodegeneration with Brain Iron Accumulation 4 is C19orf12 (Chromosome 19 Open Reading Frame 12). Affiliated tissues include brain, eye and globus pallidus, and related phenotypes are global developmental delay and cerebellar atrophy

Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.

UniProtKB/Swiss-Prot : 76 Neurodegeneration with brain iron accumulation 4: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses.

Related Diseases for Neurodegeneration with Brain Iron Accumulation 4

Diseases in the Neurodegeneration with Brain Iron Accumulation family:

Neurodegeneration with Brain Iron Accumulation 1 Neurodegeneration with Brain Iron Accumulation 2a
Neurodegeneration with Brain Iron Accumulation 5 Neurodegeneration with Brain Iron Accumulation 3
Neurodegeneration with Brain Iron Accumulation 2b Neurodegeneration with Brain Iron Accumulation 4
Neurodegeneration with Brain Iron Accumulation 6 Neurodegeneration with Brain Iron Accumulation 7
Neurodegeneration with Brain Iron Accumulation 8

Diseases related to Neurodegeneration with Brain Iron Accumulation 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 29.0 C19orf12 PANK2 PLA2G6 WDR45
2 mitochondrial membrane protein-associated neurodegeneration 11.9
3 axonal neuropathy 10.1
4 neuropathy 10.1
5 amyotrophic lateral sclerosis 1 10.0
6 intermittent claudication 10.0
7 lateral sclerosis 10.0
8 juvenile amyotrophic lateral sclerosis 10.0
9 tremor 9.9 C19orf12 DNAJC13
10 neurodegeneration with brain iron accumulation 2b 9.7 PANK2 PLA2G6
11 neurodegeneration with brain iron accumulation 2a 9.7 PANK2 PLA2G6
12 kufor-rakeb syndrome 9.7 PANK2 PLA2G6
13 neuroaxonal dystrophy 9.7 PANK2 PLA2G6
14 aceruloplasminemia 9.6 PANK2 PLA2G6
15 hereditary spastic paraplegia 9.5 C19orf12 PLA2G6
16 parkinson disease 15, autosomal recessive early-onset 9.5 C19orf12 PANK2 PLA2G6
17 neurodegeneration with brain iron accumulation 3 9.5 C19orf12 PANK2 PLA2G6
18 neurodegeneration with brain iron accumulation 1 9.5 C19orf12 PANK2 PLA2G6
19 neurodegeneration with brain iron accumulation 6 9.5 C19orf12 PANK2 PLA2G6
20 neurodegeneration with brain iron accumulation 5 9.2 C19orf12 PANK2 PLA2G6 WDR45
21 dystonia 9.2 C19orf12 PANK2 PLA2G6 WDR45

Graphical network of the top 20 diseases related to Neurodegeneration with Brain Iron Accumulation 4:



Diseases related to Neurodegeneration with Brain Iron Accumulation 4

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 4

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 4:

33 60 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 33 occasional (7.5%) HP:0001263
2 cerebellar atrophy 33 occasional (7.5%) HP:0001272
3 spasticity 60 33 Very frequent (99-80%) HP:0001257
4 dysarthria 60 33 Very frequent (99-80%) HP:0001260
5 gait disturbance 60 33 Frequent (79-30%) HP:0001288
6 optic atrophy 60 33 Frequent (79-30%) HP:0000648
7 babinski sign 60 33 Very frequent (99-80%) HP:0003487
8 parkinsonism 60 33 Frequent (79-30%) HP:0001300
9 emotional lability 33 HP:0000712
10 depressivity 33 HP:0000716
11 ataxia 33 HP:0001251
12 muscle weakness 60 Very frequent (99-80%)
13 tremor 33 HP:0001337
14 hyperreflexia 33 HP:0001347
15 dysphagia 60 Frequent (79-30%)
16 respiratory insufficiency 60 Very rare (<4-1%)
17 bowel incontinence 60 Frequent (79-30%)
18 behavioral abnormality 60 Very frequent (99-80%)
19 delayed speech and language development 33 HP:0000750
20 progressive visual loss 33 HP:0000529
21 abnormality of saccadic eye movements 60 Occasional (29-5%)
22 pes cavus 33 HP:0001761
23 dystonia 60 Frequent (79-30%)
24 scapular winging 33 HP:0003691
25 rigidity 60 Very frequent (99-80%)
26 neurodegeneration 33 HP:0002180
27 dementia 33 HP:0000726
28 mental deterioration 60 Very frequent (99-80%)
29 hyporeflexia 33 HP:0001265
30 oromandibular dystonia 33 HP:0012048
31 bradykinesia 60 Frequent (79-30%)
32 shuffling gait 60 Occasional (29-5%)
33 urinary incontinence 60 Frequent (79-30%)
34 frequent falls 60 Frequent (79-30%)
35 impulsivity 33 HP:0100710
36 distal muscle weakness 33 HP:0002460
37 hyperactive deep tendon reflexes 60 Frequent (79-30%)
38 postural instability 60 Very frequent (99-80%)
39 lewy bodies 33 HP:0100315
40 distal amyotrophy 33 HP:0003693
41 spastic paraparesis 60 Frequent (79-30%)
42 motor axonal neuropathy 60 Frequent (79-30%)
43 hand tremor 60 Very frequent (99-80%)
44 abnormal lower motor neuron morphology 33 HP:0002366
45 abnormal globus pallidus morphology 60 Frequent (79-30%)
46 abnormality of the substantia nigra 60 Frequent (79-30%)
47 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
impulsivity
depression
executive dysfunction
compulsions

Head And Neck Eyes:
optic atrophy
visual loss, progressive

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Muscle Soft Tissue:
distal muscle weakness
distal muscle atrophy

Neurologic Peripheral Nervous System:
axonal motor neuropathy (in about 50%)
reduced nerve amplitudes of peroneal nerve

Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
tremor
hyperreflexia
more
Skeletal Feet:
pes cavus
claw toes

Head And Neck Face:
oromandibular dystonia

Skeletal Hands:
atrophy of the small muscles in the hand

Laboratory Abnormalities:
increased serum creatine kinase, mild

Clinical features from OMIM:

614298

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 4:


ataxia, tremor, abnormality of extrapyramidal motor function, oromandibular dystonia, muscle spasticity, abnormal pyramidal signs

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 4

Search Clinical Trials , NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 4

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 4

Genetic tests related to Neurodegeneration with Brain Iron Accumulation 4:

# Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation 4 30 C19orf12

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 4

MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 4:

42
Brain, Eye, Globus Pallidus

Publications for Neurodegeneration with Brain Iron Accumulation 4

Articles related to Neurodegeneration with Brain Iron Accumulation 4:

# Title Authors Year
1
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing. ( 30392167 )
2018
2
Behr syndrome with homozygous C19ORF12 mutation. ( 26187298 )
2015
3
A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. ( 23521069 )
2014
4
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. ( 23857908 )
2013
5
Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. ( 23278385 )
2013
6
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. ( 23269600 )
2013
7
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. ( 22508347 )
2012
8
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. ( 22584950 )
2012
9
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. ( 21981780 )
2011
10
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. ( 20039086 )
2010

Variations for Neurodegeneration with Brain Iron Accumulation 4

UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 4:

76 (show all 14)
# Symbol AA change Variation ID SNP ID
1 C19orf12 p.Thr11Met VAR_066617 rs397514477
2 C19orf12 p.Gly53Arg VAR_066618 rs200133991
3 C19orf12 p.Gly65Glu VAR_066619 rs752450983
4 C19orf12 p.Gly69Arg VAR_066620 rs515726205
5 C19orf12 p.Ser39Phe VAR_069756 rs120486509
6 C19orf12 p.Ala48Pro VAR_069757
7 C19orf12 p.Pro60Leu VAR_069758 rs142499939
8 C19orf12 p.Gly65Val VAR_069759 rs752450983
9 C19orf12 p.Pro83Leu VAR_069760 rs201987973
10 C19orf12 p.Arg98Ser VAR_069761 rs138493099
11 C19orf12 p.Leu121Gln VAR_069762
12 C19orf12 p.Ala63Pro VAR_070668 rs376103979
13 C19orf12 p.Gly58Ser VAR_076803 rs135850347
14 C19orf12 p.Gln96Pro VAR_076804

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 4:

6 (show top 50) (show all 216)
# Gene Variation Type Significance SNP ID Assembly Location
1 C19orf12 NM_001256047.1(C19orf12): c.171_181del (p.Gly58Argfs) deletion Pathogenic GRCh38 Chromosome 19, 29702957: 29702967
2 C19orf12 NM_001256047.1(C19orf12): c.171_181del (p.Gly58Argfs) deletion Pathogenic GRCh37 Chromosome 19, 30193864: 30193874
3 C19orf12 NM_001031726.3(C19orf12): c.32C> T (p.Thr11Met) single nucleotide variant Pathogenic rs397514477 GRCh37 Chromosome 19, 30199322: 30199322
4 C19orf12 NM_001031726.3(C19orf12): c.32C> T (p.Thr11Met) single nucleotide variant Pathogenic rs397514477 GRCh38 Chromosome 19, 29708415: 29708415
5 C19orf12 NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs515726205 GRCh37 Chromosome 19, 30193873: 30193873
6 C19orf12 NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs515726205 GRCh38 Chromosome 19, 29702966: 29702966
7 C19orf12 NM_001031726.3(C19orf12): c.424A> G (p.Lys142Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146170087 GRCh37 Chromosome 19, 30193654: 30193654
8 C19orf12 NM_001031726.3(C19orf12): c.424A> G (p.Lys142Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146170087 GRCh38 Chromosome 19, 29702747: 29702747
9 C19orf12 NM_001256047.1(C19orf12): c.362T> A (p.Leu121Gln) single nucleotide variant Pathogenic rs387907173 GRCh37 Chromosome 19, 30193683: 30193683
10 C19orf12 NM_001256047.1(C19orf12): c.362T> A (p.Leu121Gln) single nucleotide variant Pathogenic rs387907173 GRCh38 Chromosome 19, 29702776: 29702776
11 C19orf12 NM_001031726.3(C19orf12): c.187G> C (p.Ala63Pro) single nucleotide variant Likely pathogenic rs376103979 GRCh37 Chromosome 19, 30199167: 30199167
12 C19orf12 NM_001031726.3(C19orf12): c.187G> C (p.Ala63Pro) single nucleotide variant Likely pathogenic rs376103979 GRCh38 Chromosome 19, 29708260: 29708260
13 C19orf12 NM_001256047.1(C19orf12): c.164_166delGGG (p.Gly55del) deletion Pathogenic rs398122409 GRCh37 Chromosome 19, 30193879: 30193881
14 C19orf12 NM_001256047.1(C19orf12): c.164_166delGGG (p.Gly55del) deletion Pathogenic rs398122409 GRCh38 Chromosome 19, 29702972: 29702974
15 C19orf12 NM_001031726.3(C19orf12): c.357C> T (p.Thr119=) single nucleotide variant Benign rs10424582 GRCh37 Chromosome 19, 30193721: 30193721
16 C19orf12 NM_001031726.3(C19orf12): c.357C> T (p.Thr119=) single nucleotide variant Benign rs10424582 GRCh38 Chromosome 19, 29702814: 29702814
17 C19orf12 NM_001031726.3(C19orf12): c.425A> C (p.Lys142Thr) single nucleotide variant Benign/Likely benign rs79915936 GRCh37 Chromosome 19, 30193653: 30193653
18 C19orf12 NM_001031726.3(C19orf12): c.425A> C (p.Lys142Thr) single nucleotide variant Benign/Likely benign rs79915936 GRCh38 Chromosome 19, 29702746: 29702746
19 C19orf12 NM_001031726.3(C19orf12): c.204_214del11 (p.Gly69Argfs) deletion Pathogenic rs515726204 GRCh38 Chromosome 19, 29702957: 29702967
20 C19orf12 NM_001031726.3(C19orf12): c.204_214del11 (p.Gly69Argfs) deletion Pathogenic rs515726204 GRCh37 Chromosome 19, 30193864: 30193874
21 C19orf12 NM_001031726.3(C19orf12): c.258_259delGAinsTGGAGGAACAGT (p.Gln86Hisfs) indel Pathogenic rs797045423 GRCh38 Chromosome 19, 29702912: 29702913
22 C19orf12 NM_001031726.3(C19orf12): c.258_259delGAinsTGGAGGAACAGT (p.Gln86Hisfs) indel Pathogenic rs797045423 GRCh37 Chromosome 19, 30193819: 30193820
23 C19orf12 NM_001256047.1(C19orf12): c.215C> T (p.Pro72Leu) single nucleotide variant Pathogenic rs201987973 GRCh38 Chromosome 19, 29702923: 29702923
24 C19orf12 NM_001256047.1(C19orf12): c.215C> T (p.Pro72Leu) single nucleotide variant Pathogenic rs201987973 GRCh37 Chromosome 19, 30193830: 30193830
25 C19orf12 NM_001031726.3(C19orf12): c.249G> A (p.Pro83=) single nucleotide variant Conflicting interpretations of pathogenicity rs202054484 GRCh38 Chromosome 19, 29702922: 29702922
26 C19orf12 NM_001031726.3(C19orf12): c.249G> A (p.Pro83=) single nucleotide variant Conflicting interpretations of pathogenicity rs202054484 GRCh37 Chromosome 19, 30193829: 30193829
27 C19orf12 NM_001031726.3(C19orf12): c.102G> A (p.Ala34=) single nucleotide variant Conflicting interpretations of pathogenicity rs201118405 GRCh37 Chromosome 19, 30199252: 30199252
28 C19orf12 NM_001031726.3(C19orf12): c.102G> A (p.Ala34=) single nucleotide variant Conflicting interpretations of pathogenicity rs201118405 GRCh38 Chromosome 19, 29708345: 29708345
29 C19orf12 NM_001031726.3(C19orf12): c.*3520C> T single nucleotide variant Uncertain significance rs886054311 GRCh37 Chromosome 19, 30190099: 30190099
30 C19orf12 NM_001031726.3(C19orf12): c.*3520C> T single nucleotide variant Uncertain significance rs886054311 GRCh38 Chromosome 19, 29699192: 29699192
31 C19orf12 NM_001031726.3(C19orf12): c.*3372C> T single nucleotide variant Uncertain significance rs117537955 GRCh37 Chromosome 19, 30190247: 30190247
32 C19orf12 NM_001031726.3(C19orf12): c.*3372C> T single nucleotide variant Uncertain significance rs117537955 GRCh38 Chromosome 19, 29699340: 29699340
33 C19orf12 NM_001031726.3(C19orf12): c.*3337G> A single nucleotide variant Uncertain significance rs868247639 GRCh37 Chromosome 19, 30190282: 30190282
34 C19orf12 NM_001031726.3(C19orf12): c.*3337G> A single nucleotide variant Uncertain significance rs868247639 GRCh38 Chromosome 19, 29699375: 29699375
35 C19orf12 NM_001031726.3(C19orf12): c.*3336C> T single nucleotide variant Likely benign rs10414583 GRCh37 Chromosome 19, 30190283: 30190283
36 C19orf12 NM_001031726.3(C19orf12): c.*3336C> T single nucleotide variant Likely benign rs10414583 GRCh38 Chromosome 19, 29699376: 29699376
37 C19orf12 NM_001031726.3(C19orf12): c.*3294C> G single nucleotide variant Uncertain significance rs886054313 GRCh37 Chromosome 19, 30190325: 30190325
38 C19orf12 NM_001031726.3(C19orf12): c.*3294C> G single nucleotide variant Uncertain significance rs886054313 GRCh38 Chromosome 19, 29699418: 29699418
39 C19orf12 NM_001031726.3(C19orf12): c.*2961T> C single nucleotide variant Benign rs10417597 GRCh38 Chromosome 19, 29699751: 29699751
40 C19orf12 NM_001031726.3(C19orf12): c.*2961T> C single nucleotide variant Benign rs10417597 GRCh37 Chromosome 19, 30190658: 30190658
41 C19orf12 NM_001031726.3(C19orf12): c.*2956G> T single nucleotide variant Likely benign rs113943151 GRCh38 Chromosome 19, 29699756: 29699756
42 C19orf12 NM_001031726.3(C19orf12): c.*2956G> T single nucleotide variant Likely benign rs113943151 GRCh37 Chromosome 19, 30190663: 30190663
43 C19orf12 NM_001031726.3(C19orf12): c.*2763A> G single nucleotide variant Likely benign rs113735809 GRCh38 Chromosome 19, 29699949: 29699949
44 C19orf12 NM_001031726.3(C19orf12): c.*2763A> G single nucleotide variant Likely benign rs113735809 GRCh37 Chromosome 19, 30190856: 30190856
45 C19orf12 NM_001031726.3(C19orf12): c.*2186C> T single nucleotide variant Likely benign rs73548135 GRCh38 Chromosome 19, 29700526: 29700526
46 C19orf12 NM_001031726.3(C19orf12): c.*2186C> T single nucleotide variant Likely benign rs73548135 GRCh37 Chromosome 19, 30191433: 30191433
47 C19orf12 NM_001031726.3(C19orf12): c.*1686T> C single nucleotide variant Benign rs7255131 GRCh38 Chromosome 19, 29701026: 29701026
48 C19orf12 NM_001031726.3(C19orf12): c.*1686T> C single nucleotide variant Benign rs7255131 GRCh37 Chromosome 19, 30191933: 30191933
49 C19orf12 NM_001031726.3(C19orf12): c.*1488T> G single nucleotide variant Uncertain significance rs777128142 GRCh38 Chromosome 19, 29701224: 29701224
50 C19orf12 NM_001031726.3(C19orf12): c.*1488T> G single nucleotide variant Uncertain significance rs777128142 GRCh37 Chromosome 19, 30192131: 30192131

Expression for Neurodegeneration with Brain Iron Accumulation 4

Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 4.

Pathways for Neurodegeneration with Brain Iron Accumulation 4

GO Terms for Neurodegeneration with Brain Iron Accumulation 4

Cellular components related to Neurodegeneration with Brain Iron Accumulation 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.35 C19orf12 DNAJC13 PANK2 PLA2G6 WDR45
2 cytosol GO:0005829 9.02 C19orf12 DNAJC13 PANK2 PLA2G6 WDR45

Biological processes related to Neurodegeneration with Brain Iron Accumulation 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 8.62 C19orf12 WDR45

Sources for Neurodegeneration with Brain Iron Accumulation 4

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