Muscular Dystrophy, Congenital, Megaconial Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MSC028 MIFTS: 39	Muscular Dystrophy, Congenital, Megaconial Type Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Muscular Dystrophy, Congenital, Megaconial Type

MalaCards integrated aliases for Muscular Dystrophy, Congenital, Megaconial Type:

Name: Muscular Dystrophy, Congenital, Megaconial Type ⁵⁷ ⁵³ ²⁹ ¹³ ⁶ ⁷³

Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect ¹² ⁵³ ⁵⁹

Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities ¹² ⁵³ ⁵⁹

Megaconial Congenital Muscular Dystrophy ¹² ⁵³ ⁵⁹

Congenital Megaconial Myopathy ¹² ⁵³ ⁵⁹

Megaconial Type Congenital Muscular Dystrophy ¹² ¹⁵

Muscular Dystrophy, Congenital, with Mitochondrial Structural Abnormalities ⁵⁷

Dystrophy, Muscular, Congenital, Megaconial Type ⁴⁰

Megaconial Congénital Muscular Dystrophy ⁵³

Mdcmc ⁵⁷

Characteristics:

Orphanet epidemiological data:

⁵⁹

megaconial congenital muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset at birth
some patients may die from cardiomyopathy in the first or second decade of life

HPO:

³²

muscular dystrophy, congenital, megaconial type:
Onset and clinical course congenital onset slow progression
Inheritance autosomal recessive inheritance mitochondrial inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 602541

Disease Ontology ¹² DOID:0110632

ICD10 ³³ G71.2

Orphanet ⁵⁹ ORPHA280671

ICD10 via Orphanet ³⁴ G71.2

UMLS via Orphanet ⁷⁴ C1865233

MedGen ⁴² C1865233

UMLS ⁷³ C1865233

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Summaries for Muscular Dystrophy, Congenital, Megaconial Type

OMIM : ⁵⁷ This form of autosomal recessive congenital muscular dystrophy is characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011). (602541)

MalaCards based summary : Muscular Dystrophy, Congenital, Megaconial Type, also known as congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect, is related to hypersomnia and muscular dystrophy, congenital, lmna-related, and has symptoms including muscle weakness, waddling gait and facial paresis. An important gene associated with Muscular Dystrophy, Congenital, Megaconial Type is CHKB (Choline Kinase Beta), and among its related pathways/superpathways are Parkinsons Disease Pathway and Mitophagy - animal. Related phenotypes are intellectual disability and seizures

Disease Ontology : ¹² A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has material basis in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.

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Related Diseases for Muscular Dystrophy, Congenital, Megaconial Type

Diseases related to Muscular Dystrophy, Congenital, Megaconial Type via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	hypersomnia	10.3	CHKB CPT1B
2	muscular dystrophy, congenital, lmna-related	10.1
3	muscular dystrophy	10.1
4	myopathy	10.0
5	parkinson disease 10	9.8	PINK1 PRKN
6	parkinson disease 2, autosomal recessive juvenile	9.7	PINK1 PRKN
7	creatine phosphokinase, elevated serum	9.7	CHKB LAMA2
8	early-onset parkinson's disease	9.6	PINK1 PRKN
9	movement disease	9.5	PINK1 PRKN
10	synucleinopathy	9.2	PINK1 PRKN

Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital, Megaconial Type:

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Symptoms & Phenotypes for Muscular Dystrophy, Congenital, Megaconial Type

Symptoms via clinical synopsis from OMIM:

⁵⁷

Muscle Soft Tissue:
muscle weakness
muscular dystrophy
gowers sign
hypotonia, neonatal
variation in fiber size
more

Skin Nails Hair Skin:
ichthyosis

Head And Neck Face:
facial muscle weakness

Cardiovascular Heart:
dilated cardiomyopathy (occurs in about 50%)

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
waddling gait
delayed motor development
mental retardation
poor speech development
some patients never achieve independent ambulation
more

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

602541

Human phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type:

³² (show all 16)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³²		HP:0001249
2	seizures ³²		HP:0001250
3	facial palsy ³²		HP:0010628
4	delayed speech and language development ³²		HP:0000750
5	microcephaly ³²		HP:0000252
6	neonatal hypotonia ³²		HP:0001319
7	ichthyosis ³²		HP:0008064
8	myopathy ³²		HP:0003198
9	elevated serum creatine phosphokinase ³²		HP:0003236
10	motor delay ³²		HP:0001270
11	muscular dystrophy ³²		HP:0003560
12	congenital muscular dystrophy ³²		HP:0003741
13	dilated cardiomyopathy ³²	very rare (1%)	HP:0001644
14	waddling gait ³²		HP:0002515
15	poor speech ³²		HP:0002465
16	gowers sign ³²		HP:0003391

UMLS symptoms related to Muscular Dystrophy, Congenital, Megaconial Type:

muscle weakness, waddling gait, facial paresis

GenomeRNAi Phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00173-A	9.55	PINK1
2	Decreased viability	GR00221-A-1	9.55	CHKB PINK1
3	Decreased viability	GR00221-A-2	9.55	CHKA CHKB PINK1
4	Decreased viability	GR00221-A-3	9.55	CHKB PINK1
5	Decreased viability	GR00221-A-4	9.55	CHKA CHKB PINK1
6	Decreased viability	GR00301-A	9.55	CHKB PINK1
7	Decreased viability	GR00342-S-2	9.55	CHKA
8	Decreased viability	GR00402-S-2	9.55	CHKA CHKB PINK1
9	Decreased cella89culturea89derived Hepatitis C virus (HCVcc; Luca89Jc1) infection	GR00234-A-2	8.96	CHKA CHKB

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Drugs & Therapeutics for Muscular Dystrophy, Congenital, Megaconial Type

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Congenital, Megaconial Type

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Genetic Tests for Muscular Dystrophy, Congenital, Megaconial Type

Genetic tests related to Muscular Dystrophy, Congenital, Megaconial Type:

#	Genetic test	Affiliating Genes
1	Muscular Dystrophy, Congenital, Megaconial Type ²⁹	CHKB

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Anatomical Context for Muscular Dystrophy, Congenital, Megaconial Type

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Publications for Muscular Dystrophy, Congenital, Megaconial Type

Articles related to Muscular Dystrophy, Congenital, Megaconial Type:

#	Title	Authors	Year
1	A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. ( 21665002 )	Mitsuhashi S....Nishino I.	2011
2	A new congenital muscular dystrophy with mitochondrial structural abnormalities. ( 9427222 )	Nishino I....Nonaka I.	1998

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Genes for Muscular Dystrophy, Congenital, Megaconial Type

Genes related to Muscular Dystrophy, Congenital, Megaconial Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CHKB	Choline Kinase Beta	Protein Coding	1378.77	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
2	CPT1B	Carnitine Palmitoyltransferase 1B	Protein Coding	18.82	GeneCards inferred via : Variants (show sections)
3	COX14	COX14, Cytochrome C Oxidase Assembly Factor	Protein Coding	15.44	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	PINK1	PTEN Induced Putative Kinase 1	Protein Coding	14.61	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	PRKN	Parkin RBR E3 Ubiquitin Protein Ligase	Protein Coding	14.43	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	LAMA2	Laminin Subunit Alpha 2	Protein Coding	13.53	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	CHKB-CPT1B	CHKB-CPT1B Readthrough (NMD Candidate)	RNA Gene	9.28	GeneCards inferred via : Variants (show sections)
8	CHKB-DT	CHKB Divergent Transcript	RNA Gene	9.02	GeneCards inferred via : Variants (show sections)
9	CHKA	Choline Kinase Alpha	Protein Coding	3.83	DISEASES inferred ¹⁵

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Variations for Muscular Dystrophy, Congenital, Megaconial Type

ClinVar genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:

⁶

(show all 44)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CHKB	NM_005198.4(CHKB): c.810T> A (p.Tyr270Ter)	single nucleotide variant	Pathogenic	rs750764003	GRCh37	Chromosome 22, 51018627: 51018627
2	CHKB	NM_005198.4(CHKB): c.810T> A (p.Tyr270Ter)	single nucleotide variant	Pathogenic	rs750764003	GRCh38	Chromosome 22, 50580198: 50580198
3	CHKB	NM_005198.4(CHKB): c.116C> A (p.Ser39Ter)	single nucleotide variant	Pathogenic	rs387907068	GRCh37	Chromosome 22, 51021095: 51021095
4	CHKB	NM_005198.4(CHKB): c.116C> A (p.Ser39Ter)	single nucleotide variant	Pathogenic	rs387907068	GRCh38	Chromosome 22, 50582666: 50582666
5	CHKB	NM_005198.4(CHKB): c.458dupT (p.Leu153Phefs)	duplication	Pathogenic	rs786205117	GRCh37	Chromosome 22, 51019972: 51019972
6	CHKB	NM_005198.4(CHKB): c.458dupT (p.Leu153Phefs)	duplication	Pathogenic	rs786205117	GRCh38	Chromosome 22, 50581543: 50581543
7	CHKB	NM_005198.4(CHKB): c.922C> T (p.Gln308Ter)	single nucleotide variant	Pathogenic	rs387907069	GRCh37	Chromosome 22, 51018408: 51018408
8	CHKB	NM_005198.4(CHKB): c.922C> T (p.Gln308Ter)	single nucleotide variant	Pathogenic	rs387907069	GRCh38	Chromosome 22, 50579979: 50579979
9	CHKB	NM_005198.4(CHKB): c.677+1G> A	single nucleotide variant	Pathogenic	rs786205118	GRCh37	Chromosome 22, 51018993: 51018993
10	CHKB	NM_005198.4(CHKB): c.677+1G> A	single nucleotide variant	Pathogenic	rs786205118	GRCh38	Chromosome 22, 50580564: 50580564
11	CHKB	NM_005198.4(CHKB): c.670A> C (p.Asn224His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149858290	GRCh37	Chromosome 22, 51019001: 51019001
12	CHKB	NM_005198.4(CHKB): c.670A> C (p.Asn224His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149858290	GRCh38	Chromosome 22, 50580572: 50580572
13	CHKB	NM_005198.4(CHKB): c.457T> C (p.Leu153=)	single nucleotide variant	Likely benign	rs146693439	GRCh37	Chromosome 22, 51019973: 51019973
14	CHKB	NM_005198.4(CHKB): c.457T> C (p.Leu153=)	single nucleotide variant	Likely benign	rs146693439	GRCh38	Chromosome 22, 50581544: 50581544
15	CHKB	NM_005198.4(CHKB): c.249C> T (p.Phe83=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs180979987	GRCh37	Chromosome 22, 51020762: 51020762
16	CHKB	NM_005198.4(CHKB): c.249C> T (p.Phe83=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs180979987	GRCh38	Chromosome 22, 50582333: 50582333
17	CHKB	NM_005198.4(CHKB): c.940C> T (p.Arg314Cys)	single nucleotide variant	Uncertain significance	rs200919604	GRCh37	Chromosome 22, 51018247: 51018247
18	CHKB	NM_005198.4(CHKB): c.940C> T (p.Arg314Cys)	single nucleotide variant	Uncertain significance	rs200919604	GRCh38	Chromosome 22, 50579818: 50579818
19	CHKB	NM_005198.4(CHKB): c.149A> G (p.Tyr50Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138205828	GRCh38	Chromosome 22, 50582633: 50582633
20	CHKB	NM_005198.4(CHKB): c.149A> G (p.Tyr50Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138205828	GRCh37	Chromosome 22, 51021062: 51021062
21	CHKB	NM_005198.4(CHKB): c.597C> T (p.Ile199=)	single nucleotide variant	Likely benign	rs146409721	GRCh37	Chromosome 22, 51019074: 51019074
22	CHKB	NM_005198.4(CHKB): c.597C> T (p.Ile199=)	single nucleotide variant	Likely benign	rs146409721	GRCh38	Chromosome 22, 50580645: 50580645
23	CHKB	NM_005198.4(CHKB): c.14C> T (p.Ala5Val)	single nucleotide variant	Likely benign	rs199703765	GRCh38	Chromosome 22, 50582768: 50582768
24	CHKB	NM_005198.4(CHKB): c.14C> T (p.Ala5Val)	single nucleotide variant	Likely benign	rs199703765	GRCh37	Chromosome 22, 51021197: 51021197
25	CHKB	NM_005198.4(CHKB): c.856T> C (p.Tyr286His)	single nucleotide variant	Uncertain significance	rs764474062	GRCh38	Chromosome 22, 50580045: 50580045
26	CHKB	NM_005198.4(CHKB): c.856T> C (p.Tyr286His)	single nucleotide variant	Uncertain significance	rs764474062	GRCh37	Chromosome 22, 51018474: 51018474
27	CHKB	NM_005198.4(CHKB): c.501T> G (p.Ile167Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199704510	GRCh38	Chromosome 22, 50581500: 50581500
28	CHKB	NM_005198.4(CHKB): c.501T> G (p.Ile167Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199704510	GRCh37	Chromosome 22, 51019929: 51019929
29	CHKB	NM_005198.4(CHKB): c.594G> A (p.Gln198=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 22, 51019077: 51019077
30	CHKB	NM_005198.4(CHKB): c.594G> A (p.Gln198=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 22, 50580648: 50580648
31	CHKB	NM_005198.4(CHKB): c.577G> A (p.Glu193Lys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 22, 51019853: 51019853
32	CHKB	NM_005198.4(CHKB): c.577G> A (p.Glu193Lys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 22, 50581424: 50581424
33	CHKB	NM_005198.4(CHKB): c.315G> A (p.Leu105=)	single nucleotide variant	Likely benign	rs369633837	GRCh37	Chromosome 22, 51020696: 51020696
34	CHKB	NM_005198.4(CHKB): c.315G> A (p.Leu105=)	single nucleotide variant	Likely benign	rs369633837	GRCh38	Chromosome 22, 50582267: 50582267
35	CHKB	NM_005198.4(CHKB): c.902C> T (p.Thr301Ile)	single nucleotide variant	Uncertain significance	rs147485527	GRCh38	Chromosome 22, 50579999: 50579999
36	CHKB	NM_005198.4(CHKB): c.902C> T (p.Thr301Ile)	single nucleotide variant	Uncertain significance	rs147485527	GRCh37	Chromosome 22, 51018428: 51018428
37	CHKB	NM_005198.4(CHKB): c.466C> G (p.Gln156Glu)	single nucleotide variant	Uncertain significance	rs764016359	GRCh38	Chromosome 22, 50581535: 50581535
38	CHKB	NM_005198.4(CHKB): c.466C> G (p.Gln156Glu)	single nucleotide variant	Uncertain significance	rs764016359	GRCh37	Chromosome 22, 51019964: 51019964
39	CHKB	NM_005198.4(CHKB): c.400C> T (p.Gln134Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 22, 51020225: 51020225
40	CHKB	NM_005198.4(CHKB): c.400C> T (p.Gln134Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 22, 50581796: 50581796
41	CHKB	NM_005198.4(CHKB): c.17C> T (p.Thr6Ile)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 22, 50582765: 50582765
42	CHKB	NM_005198.4(CHKB): c.17C> T (p.Thr6Ile)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 22, 51021194: 51021194
43	CHKB	NM_005198.4(CHKB): c.1032-2A> G	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 22, 51017938: 51017938
44	CHKB	NM_005198.4(CHKB): c.1032-2A> G	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 22, 50579509: 50579509

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Expression for Muscular Dystrophy, Congenital, Megaconial Type

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital, Megaconial Type.

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Pathways for Muscular Dystrophy, Congenital, Megaconial Type

Pathways related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Parkinsons Disease Pathway ¹	11.29	PINK1 PRKN
2	Mitophagy - animal ³⁷	11.13	PINK1 PRKN
3	Mitochondrial LC-Fatty Acid Beta-Oxidation ¹ Show member pathways Fatty Acid Beta Oxidation ¹ fatty acid beta-oxidation (unsaturated, odd number) ¹	10.98	CHKB CPT1B
4	Pink/Parkin Mediated Mitophagy ⁶⁶ Show member pathways Mitophagy ⁶⁶	10.82	PINK1 PRKN
5	Synthesis of PC ⁶⁶	10.4	CHKA CHKB
6	phosphatidylcholine biosynthesis ¹	9.4	CHKA CPT1B

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GO Terms for Muscular Dystrophy, Congenital, Megaconial Type

Cellular components related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Lewy body	GO:0097413	8.62	PINK1 PRKN

Biological processes related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphorylation	GO:0016310	9.88	CHKA CHKB CHKB-CPT1B PINK1
2	phospholipid biosynthetic process	GO:0008654	9.61	CHKA CHKB
3	negative regulation of neuron death	GO:1901215	9.6	PINK1 PRKN
4	autophagy of mitochondrion	GO:0000422	9.59	PINK1 PRKN
5	phosphatidylcholine biosynthetic process	GO:0006656	9.58	CHKA CHKB
6	regulation of mitochondrial membrane potential	GO:0051881	9.57	PINK1 PRKN
7	negative regulation of JNK cascade	GO:0046329	9.56	PINK1 PRKN
8	regulation of reactive oxygen species metabolic process	GO:2000377	9.55	PINK1 PRKN
9	negative regulation of reactive oxygen species metabolic process	GO:2000378	9.54	PINK1 PRKN
10	regulation of protein ubiquitination	GO:0031396	9.52	PINK1 PRKN
11	regulation of mitochondrion organization	GO:0010821	9.51	PINK1 PRKN
12	phosphatidylethanolamine biosynthetic process	GO:0006646	9.49	CHKA CHKB
13	positive regulation of mitochondrial fission	GO:0090141	9.48	PINK1 PRKN
14	glycerophospholipid biosynthetic process	GO:0046474	9.46	CHKB CHKB-CPT1B
15	regulation of protein targeting to mitochondrion	GO:1903214	9.43	PINK1 PRKN
16	cellular response to toxic substance	GO:0097237	9.4	PINK1 PRKN
17	CDP-choline pathway	GO:0006657	9.37	CHKA CHKB
18	negative regulation of oxidative stress-induced cell death	GO:1903202	9.32	PINK1 PRKN
19	positive regulation of mitophagy in response to mitochondrial depolarization	GO:0098779	9.26	PINK1 PRKN
20	regulation of synaptic vesicle transport	GO:1902803	9.16	PINK1 PRKN
21	mitochondrion to lysosome transport	GO:0099074	8.96	PINK1 PRKN
22	regulation of cellular response to oxidative stress	GO:1900407	8.62	PINK1 PRKN

Molecular functions related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transferase activity	GO:0016740	9.55	CHKA CHKB CPT1B PINK1 PRKN
2	ethanolamine kinase activity	GO:0004305	8.96	CHKA CHKB
3	choline kinase activity	GO:0004103	8.62	CHKA CHKB

Sources

Sources for Muscular Dystrophy, Congenital, Megaconial Type

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia