Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MLT162 MIFTS: 38	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects Categories: Genetic diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Multiple Joint Dislocations, Short Stature, and Craniofacial...

MalaCards integrated aliases for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

Name: Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects ⁵⁷ ⁷⁵

Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects ³⁷ ²⁹ ¹³ ⁶

Larsen-Like Syndrome, B3gat3 Type ⁵⁹ ⁶

Jdscd ⁵⁷ ⁷⁵

Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, with or Without Congenital Heart Defects ⁵⁷

Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism Without Congenital Heart Defects ⁶

Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with Congenital Heart Defects ⁶

Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome ⁵⁹

Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects ⁴⁰

Larsen Syndrome, Autosomal Recessive, Formerly ⁵⁷

Autosomal Recessive Larsen Syndrome ⁷⁵

Larsen-Like Syndrome B3gat3 Type ⁷⁵

Larsen Syndrome, Recessive Type ⁷³

Larsen-Like Syndrome ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

larsen-like syndrome, b3gat3 type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of limb(s)

Other specified congenital malformations of limb(s)

Orphanet: ⁵⁹

Rare cardiac malformations

Rare bone diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 245600

Orphanet ⁵⁹ ORPHA284139

ICD10 via Orphanet ³⁴ Q74.8

MedGen ⁴² C3278404 C1855536

MeSH ⁴⁴ D000015 D004204

KEGG ³⁷ H01498

SNOMED-CT via HPO ⁶⁹ 258211005 396232000 14582003 more

UMLS ⁷³ C2931649

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Summaries for Multiple Joint Dislocations, Short Stature, and Craniofacial...

UniProtKB/Swiss-Prot : ⁷⁵ Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects: An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects.

MalaCards based summary : Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects, also known as multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, is related to larsen syndrome and larsen-like syndrome. An important gene associated with Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects is B3GAT3 (Beta-1,3-Glucuronyltransferase 3), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Glycosaminoglycan biosynthesis - heparan sulfate / heparin. Affiliated tissues include heart, skin and bone, and related phenotypes are hypertelorism and low-set ears

Description from OMIM: 245600

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Related Diseases for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Diseases related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	larsen syndrome	28.4	B4GALT7 CHST3
2	larsen-like syndrome	12.4
3	larsen-like syndrome, lethal type	12.2
4	spondyloepiphyseal dysplasia with congenital joint dislocations	11.1
5	craniosynostosis	10.0
6	skeletal dysplasias	10.0
7	cleft tongue	9.9

Graphical network of the top 20 diseases related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

Diseases related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects

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Symptoms & Phenotypes for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
low-set ears
small ears
dysmorphic ears
prominent antitragus (in some patients)
uplift of earlobes (in some patients)

Skeletal Spine:
scoliosis
osteopenia evident in childhood
atlanto-axial instability (in one patient)
atlanto-occipital instability (in one patient)

Skeletal Feet:
pes planus
talipes equinovarus
talipes equinovalgus
metatarsus varus
broad ends of toes
more

Head And Neck Head:
brachycephaly

Head And Neck Face:
prominent forehead
midface hypoplasia
micrognathia (in some patients)
microretrognathia (in some patients)
flat face (in one patient)

Skin Nails Hair Hair:
low posterior hairline
thick eyebrows

Head And Neck Eyes:
amblyopia
esotropia
large eyes
downslanting palpebral fissures
hyperopia
more

Head And Neck Mouth:
small mouth
cleft palate (rare)

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum (in some patients)
gracile ribs (in one patient)
11 pairs of ribs (rare)

Respiratory Lung:
restrictive lung disease secondary to small thorax (rare)

Skeletal Limbs:
shoulder dislocation (in some patients)
elbow dislocation, bilateral
elbow contracture
rhizomelic shortening (in some patients)
radioulnar synostosis (in some patients)
more

Skin Nails Hair Skin:
hyperextensible skin (in some patients)
excessive skin wrinkling of palms and soles (in one patient)

Neurologic Central Nervous System:
hydrocephalus (rare)
arrested hydrocephalus (rare)
verbal delay (in some patients)
motor delay (in one patient)
generalized cortical atrophy (in one patient)

Head And Neck Neck:
short neck
low posterior hairline
webbed neck (in some patients)

Head And Neck Nose:
depressed nasal bridge

Growth Height:
short stature

Cardiovascular Heart:
cardiomegaly
atrial septal defect
bicuspid aortic valve
left ventricular hypertrophy
mitral valve prolapse
more

Chest External Features:
narrow chest
chest asymmetry, mild

Skeletal Pelvis:
hip dislocation
mild dysplasia of hip joints
dysmorphic appearance of femoral head (in one patient)
gibbus deformity at l1 level (in one patient)

Cardiovascular Vascular:
aortic root dilatation
pulmonary artery dilation, mild (in one patient)

Head And Neck Teeth:
small teeth
extensive caries

Abdomen External Features:
inguinal hernia (in some patients)
protrusion of abdomen (in some patients)
diaphragmatic hernia (in some patients)

Skeletal:
hyperextensibility of large joints
generalized osteoporosis (in some patients)
early bone maturation (in some patients)
dissociated bone age (in some patients)
multiple fractures (rare)

Skeletal Hands:
wrist joint laxity
wrist joint dislocation (in some patients)
interphalangeal joint laxity
increased number of carpal ossification centers
metacarpal shortening
more

Muscle Soft Tissue:
hypotonia, generalized (in some patients)

Clinical features from OMIM:

245600

Human phenotypes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

³² (show top 50) (show all 71)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³²		HP:0000316
2	low-set ears ³²		HP:0000369
3	short neck ³²		HP:0000470
4	frontal bossing ³²		HP:0002007
5	genu valgum ³²	occasional (7.5%)	HP:0002857
6	hydrocephalus ³²		HP:0000238
7	osteopenia ³²		HP:0000938
8	muscular hypotonia ³²		HP:0001252
9	scoliosis ³²		HP:0002650
10	inguinal hernia ³²	occasional (7.5%)	HP:0000023
11	delayed skeletal maturation ³²	occasional (7.5%)	HP:0002750
12	depressed nasal bridge ³²		HP:0005280
13	pectus carinatum ³²	occasional (7.5%)	HP:0000768
14	pes planus ³²		HP:0001763
15	microtia ³²		HP:0008551
16	thick eyebrow ³²		HP:0000574
17	short stature ³²		HP:0004322
18	osteoporosis ³²		HP:0000939
19	brachycephaly ³²		HP:0000248
20	cardiomegaly ³²		HP:0001640
21	prominent forehead ³²		HP:0011220
22	cleft palate ³²		HP:0000175
23	narrow chest ³²		HP:0000774
24	microdontia ³²		HP:0000691
25	metatarsus adductus ³²		HP:0001840
26	flat face ³²	occasional (7.5%)	HP:0012368
27	webbed neck ³²	occasional (7.5%)	HP:0000465
28	low posterior hairline ³²		HP:0002162
29	bicuspid aortic valve ³²		HP:0001647
30	hip dislocation ³²		HP:0002827
31	rhizomelia ³²	occasional (7.5%)	HP:0008905
32	left ventricular hypertrophy ³²		HP:0001712
33	mitral valve prolapse ³²		HP:0001634
34	downslanted palpebral fissures ³²		HP:0000494
35	narrow mouth ³²		HP:0000160
36	joint laxity ³²		HP:0001388
37	sandal gap ³²	occasional (7.5%)	HP:0001852
38	talipes equinovarus ³²		HP:0001762
39	amblyopia ³²		HP:0000646
40	recurrent fractures ³²	occasional (7.5%)	HP:0002757
41	radioulnar synostosis ³²		HP:0002974
42	midface retrusion ³²		HP:0011800
43	microretrognathia ³²	occasional (7.5%)	HP:0000308
44	blue sclerae ³²	occasional (7.5%)	HP:0000592
45	hyperextensible skin ³²	occasional (7.5%)	HP:0000974
46	motor delay ³²	occasional (7.5%)	HP:0001270
47	congenital diaphragmatic hernia ³²	occasional (7.5%)	HP:0000776
48	accelerated skeletal maturation ³²		HP:0005616
49	shoulder dislocation ³²	occasional (7.5%)	HP:0003834
50	generalized hypotonia ³²	occasional (7.5%)	HP:0001290

GenomeRNAi Phenotypes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	9.32	B3GAT3 B4GALT7
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-114	9.32	B3GAT3
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-182	9.32	B4GALT7
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.32	B3GAT3
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-205	9.32	B3GAT3
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.32	B3GAT3
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	9.32	B4GALT7
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.32	B3GAT3
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.32	B4GALT7

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Drugs & Therapeutics for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Search Clinical Trials , NIH Clinical Center for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects

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Genetic Tests for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Genetic tests related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

#	Genetic test	Affiliating Genes
1	Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects ²⁹	B3GAT3 CHST3

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Anatomical Context for Multiple Joint Dislocations, Short Stature, and Craniofacial...

MalaCards organs/tissues related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

⁴¹

Heart, Skin, Bone, Eye, Lung

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Publications for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Articles related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

#	Title	Authors	Year
1	Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). ( 24300290 )	Searle C....Hobson E.	2014

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Genes for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Genes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	B3GAT3	Beta-1,3-Glucuronyltransferase 3	Protein Coding	1680	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25893793 20301725 21882400
2	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	400	Pathogenic ⁶	20301725 21882400
3	CHST3	Carbohydrate Sulfotransferase 3	Protein Coding	100	Genetic Tests ²⁹

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Variations for Multiple Joint Dislocations, Short Stature, and Craniofacial...

UniProtKB/Swiss-Prot genetic disease variations for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	B3GAT3	p.Arg277Gln	VAR_066624	rs387906937
2	B3GAT3	p.Pro140Leu	VAR_075370	rs879255269

ClinVar genetic disease variations for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

⁶

(show all 16)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	B4GALT7	NM_007255.2(B4GALT7): c.808C> T (p.Arg270Cys)	single nucleotide variant	Pathogenic	rs28937869	GRCh37	Chromosome 5, 177035995: 177035995
2	B4GALT7	NM_007255.2(B4GALT7): c.808C> T (p.Arg270Cys)	single nucleotide variant	Pathogenic	rs28937869	GRCh38	Chromosome 5, 177608994: 177608994
3	B3GAT3	NM_012200.3(B3GAT3): c.830G> A (p.Arg277Gln)	single nucleotide variant	Likely pathogenic	rs387906937	GRCh37	Chromosome 11, 62384057: 62384057
4	B3GAT3	NM_012200.3(B3GAT3): c.830G> A (p.Arg277Gln)	single nucleotide variant	Likely pathogenic	rs387906937	GRCh38	Chromosome 11, 62616585: 62616585
5	COL11A2	NM_080680.2(COL11A2): c.1607G> A (p.Arg536Gln)	single nucleotide variant	Uncertain significance	rs770888294	GRCh37	Chromosome 6, 33146854: 33146854
6	COL11A2	NM_080680.2(COL11A2): c.1607G> A (p.Arg536Gln)	single nucleotide variant	Uncertain significance	rs770888294	GRCh38	Chromosome 6, 33179077: 33179077
7	B3GAT3	NM_012200.3(B3GAT3): c.419C> T (p.Pro140Leu)	single nucleotide variant	Pathogenic	rs879255269	GRCh38	Chromosome 11, 62617186: 62617186
8	B3GAT3	NM_012200.3(B3GAT3): c.419C> T (p.Pro140Leu)	single nucleotide variant	Pathogenic	rs879255269	GRCh37	Chromosome 11, 62384658: 62384658
9	B3GAT3	NM_012200.3(B3GAT3): c.667G> A (p.Gly223Ser)	single nucleotide variant	Pathogenic	rs372487178	GRCh37	Chromosome 11, 62384220: 62384220
10	B3GAT3	NM_012200.3(B3GAT3): c.667G> A (p.Gly223Ser)	single nucleotide variant	Pathogenic	rs372487178	GRCh38	Chromosome 11, 62616748: 62616748
11	B3GAT3	NM_001288723.1(B3GAT3): c.910-3delC	deletion	Benign	rs753764477	GRCh37	Chromosome 11, 62383715: 62383715
12	B3GAT3	NM_001288723.1(B3GAT3): c.910-3delC	deletion	Benign	rs753764477	GRCh38	Chromosome 11, 62616243: 62616243
13	B3GAT3	NM_012200.3(B3GAT3): c.821C> A (p.Thr274Asn)	single nucleotide variant	Benign	rs112223093	GRCh38	Chromosome 11, 62616594: 62616594
14	B3GAT3	NM_012200.3(B3GAT3): c.821C> A (p.Thr274Asn)	single nucleotide variant	Benign	rs112223093	GRCh37	Chromosome 11, 62384066: 62384066
15	B3GAT3	NM_012200.3(B3GAT3): c.108C> T (p.Pro36=)	single nucleotide variant	Benign	rs75316688	GRCh38	Chromosome 11, 62620646: 62620646
16	B3GAT3	NM_012200.3(B3GAT3): c.108C> T (p.Pro36=)	single nucleotide variant	Benign	rs75316688	GRCh37	Chromosome 11, 62388118: 62388118

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Expression for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Search GEO for disease gene expression data for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects.

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Pathways for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Pathways related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate	hsa00532
2	Glycosaminoglycan biosynthesis - heparan sulfate / heparin	hsa00534

Pathways related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Glycosaminoglycan metabolism ⁶⁶ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁶ HS-GAG biosynthesis ⁶⁶ Hyaluronan biosynthesis and export ⁶⁶ Hyaluronan metabolism ⁶⁶ Hyaluronan uptake and degradation ⁶⁶ Metabolism of carbohydrates ⁶⁶	11.88	B3GAT3 B4GALT7 CHST3
2	Chondroitin sulfate/dermatan sulfate metabolism ⁶⁶ Show member pathways A tetrasaccharide linker sequence is required for GAG synthesis ⁶⁶ chondroitin biosynthesis ¹ Chondroitin sulfate biosynthesis ⁶⁶ CS/DS degradation ⁶⁶ Defective B3GALT6 causes EDSP2 and SEMDJL1 ⁶⁶ Defective B3GAT3 causes JDSSDHD ⁶⁶ Defective B4GALT7 causes EDS, progeroid type ⁶⁶ Defective CHST14 causes EDS, musculocontractural type ⁶⁶ Defective CHST3 causes SEDCJD ⁶⁶ Defective CHSY1 causes TPBS ⁶⁶ Defective EXT1 causes exostoses 1, TRPS2 and CHDS ⁶⁶ Defective EXT2 causes exostoses 2 ⁶⁶ dermatan sulfate biosynthesis ¹ Dermatan sulfate biosynthesis ⁶⁶ dermatan sulfate biosynthesis (late stages) ¹ Diseases associated with glycosaminoglycan metabolism ⁶⁶ glycoaminoglycan-protein linkage region biosynthesis ¹ Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate ³⁷ Glypican pathway ¹ HS-GAG degradation ⁶⁶ Proteogylcan syndecan-mediated signaling events ¹	11.31	B3GAT3 B4GALT7 CHST3
3	heparan sulfate biosynthesis ¹ Show member pathways Glycosaminoglycan biosynthesis - heparan sulfate / heparin ³⁷ heparan sulfate biosynthesis (late stages) ¹	10.99	B3GAT3 B4GALT7

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GO Terms for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Cellular components related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Golgi apparatus	GO:0005794	9.13	B3GAT3 B4GALT7 CHST3
2	Golgi membrane	GO:0000139	8.8	B3GAT3 B4GALT7 CHST3

Biological processes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein glycosylation	GO:0006486	9.26	B3GAT3 B4GALT7
2	glycosaminoglycan biosynthetic process	GO:0006024	9.16	B3GAT3 B4GALT7
3	glycosaminoglycan metabolic process	GO:0030203	8.96	B3GAT3 B4GALT7
4	carbohydrate metabolic process	GO:0005975	8.8	B3GAT3 B4GALT7 CHST3

Molecular functions related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transferase activity	GO:0016740	8.8	B3GAT3 B4GALT7 CHST3

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Sources for Multiple Joint Dislocations, Short Stature, and Craniofacial...

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

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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