Gnathodiaphyseal Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: GNT026 MIFTS: 35	Gnathodiaphyseal Dysplasia Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Gnathodiaphyseal Dysplasia

MalaCards integrated aliases for Gnathodiaphyseal Dysplasia:

Name: Gnathodiaphyseal Dysplasia ⁵⁷ ²⁵ ⁵⁹ ⁷⁵ ³⁷ ²⁹ ¹³ ⁶

Gdd ⁵⁷ ²⁵ ⁵⁹ ⁷⁵

Osteogenesis Imperfecta with Unusual Skeletal Lesions ⁵⁷ ²⁵ ⁷⁵

Gnathodiaphyseal Sclerosis ⁵⁷ ²⁵ ⁷⁵

Osteogenesis Imperfecta, Levin Type ²⁵ ⁷³

Dysplasia, Gnathodiaphyseal ⁴⁰

Levin Syndrome 2 ²⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

gnathodiaphyseal dysplasia
Inheritance: Autosomal dominant;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset in first or second decade

HPO:

³²

gnathodiaphyseal dysplasia:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 166260

Orphanet ⁵⁹ ORPHA53697

MedGen ⁴² C1833736

MeSH ⁴⁴ D010013

KEGG ³⁷ H00498

SNOMED-CT via HPO ⁶⁹ 263681008 312894000 78441005 more

UMLS ⁷³ C1833736

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Summaries for Gnathodiaphyseal Dysplasia

UniProtKB/Swiss-Prot : ⁷⁵ Gnathodiaphyseal dysplasia: Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity.

MalaCards based summary : Gnathodiaphyseal Dysplasia, also known as gdd, is related to osteogenesis imperfecta levin type and fibrous dysplasia. An important gene associated with Gnathodiaphyseal Dysplasia is ANO5 (Anoctamin 5). Affiliated tissues include bone and cortex, and related phenotypes are osteopenia and scoliosis

Genetics Home Reference : ²⁵ Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause.

OMIM : ⁵⁷ Gnathodiaphyseal dysplasia is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by Marconi et al., 2013). (166260)

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Related Diseases for Gnathodiaphyseal Dysplasia

Diseases related to Gnathodiaphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	osteogenesis imperfecta levin type	11.5
2	fibrous dysplasia	10.0
3	rubella	9.9
4	fanconi anemia, complementation group f	9.5	FANCF GAS2

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Symptoms & Phenotypes for Gnathodiaphyseal Dysplasia

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal:
osteopenia
bone fragility
jaw lesions show fibroblasts in fibrous stromal tissue

Head And Neck Mouth:
jaw infection (osteomyelitis)

Skeletal Limbs:
leg bowing
diaphyseal bowing (radius, ulnae, tibiae, fibula)
diaphyseal cortical sclerosis

Head And Neck Face:
face deformity due to enlarged jaw bones

Skeletal Skull:
cemento-osseous lesions (maxilla and mandible)

Clinical features from OMIM:

166260

Human phenotypes related to Gnathodiaphyseal Dysplasia:

⁵⁹ ³² (show all 9)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	osteopenia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000938
2	scoliosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002650
3	bowing of the long bones ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006487
4	recurrent fractures ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002757
5	mandibular osteomyelitis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0007626
6	broad jaw ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0012802
7	thickened cortex of long bones ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000935
8	increased susceptibility to fractures ³²			HP:0002659
9	diaphyseal cortical sclerosis ³²			HP:0005045

MGI Mouse Phenotypes related to Gnathodiaphyseal Dysplasia:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.43	NELL1 SLC17A6 SLC6A5 ANO5 BAMBI COL1A1
2	craniofacial	MP:0005382	8.92	BAMBI COL1A1 NELL1 SLC6A5

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Drugs & Therapeutics for Gnathodiaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Gnathodiaphyseal Dysplasia

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Genetic Tests for Gnathodiaphyseal Dysplasia

Genetic tests related to Gnathodiaphyseal Dysplasia:

#	Genetic test	Affiliating Genes
1	Gnathodiaphyseal Dysplasia ²⁹	ANO5

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Anatomical Context for Gnathodiaphyseal Dysplasia

MalaCards organs/tissues related to Gnathodiaphyseal Dysplasia:

⁴¹

Bone, Cortex

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Publications for Gnathodiaphyseal Dysplasia

Articles related to Gnathodiaphyseal Dysplasia:

(show all 18)

#	Title	Authors	Year
1	Prosthodontic Treatment of a Patient with Gnathodiaphyseal Dysplasia: 30-Year Follow-up. ( 29518808 )	Said M.M....Taniguchi H.	2018
2	Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). ( 29175271 )	Otaify G.A....Shinawi M.	2018
3	Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. ( 28176803 )	Jin L....Hu Y.	2017
4	Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia. ( 29124309 )	Di Zanni E....Boccaccio A.	2017
5	Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. ( 27216912 )	Andreeva T.V....Rogaev E.I.	2016
6	A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis. ( 27541832 )	Rolvien T....Oheim R.	2016
7	Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene. ( 27068316 )	Duong H.A....Mallya S.M.	2016
8	Gnathodiaphyseal Dysplasia: Surgical Treatment and Prosthetic Rehabilitation of 2 Members of the Same Family. ( 27376179 )	Merlini A....Balbi P.	2016
9	Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia. ( 25866257 )	Vengoechea J....Carpenter L.	2015
10	Gnathodiaphyseal dysplasia. ( 24776605 )	Herman T.E....Sargar K.	2014
11	COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? ( 24891183 )	McInerney-Leo A.M....Zankl A.	2014
12	Recurring gnathodiaphyseal dysplasia in two Russian brothers. ( 20005074 )	Roginsky V.V....Khonsari R.H.	2010
13	Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. ( 17418107 )	Mizuta K....Itakura M.	2007
14	Gnathodiaphyseal dysplasia. ( 17189853 )	Ahluwalia J....Beall D.P.	2007
15	Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1. ( 15882990 )	Tsutsumi S....Itakura M.	2005
16	The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). ( 15124103 )	Tsutsumi S....Itakura M.	2004
17	Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1. ( 12619924 )	Tsutsumi S....Itakura M.	2003
18	Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. ( 11547842 )	Riminucci M....Bianco P.	2001

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Genes for Gnathodiaphyseal Dysplasia

Genes related to Gnathodiaphyseal Dysplasia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ANO5	Anoctamin 5	Protein Coding	1734.84	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	23047743 23193613 20301582 (more) 15124103 5816667
2	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	17.07	GeneCards inferred via : Publications (show sections)
3	SLC6A5	Solute Carrier Family 6 Member 5	Protein Coding	17.07	GeneCards inferred via : Publications (show sections)
4	FANCF	FA Complementation Group F	Protein Coding	17.07	GeneCards inferred via : Publications (show sections)
5	NELL1	Neural EGFL Like 1	Protein Coding	17.07	GeneCards inferred via : Publications (show sections)
6	BAMBI	BMP And Activin Membrane Bound Inhibitor	Protein Coding	17.07	GeneCards inferred via : Publications (show sections)
7	HTATIP2	HIV-1 Tat Interactive Protein 2	Protein Coding	7.07	GeneCards inferred via : Publications (show sections)
8	SLC17A6	Solute Carrier Family 17 Member 6	Protein Coding	7.07	GeneCards inferred via : Publications (show sections)
9	GAS2	Growth Arrest Specific 2	Protein Coding	7.07	GeneCards inferred via : Publications (show sections)

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Variations for Gnathodiaphyseal Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Gnathodiaphyseal Dysplasia:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ANO5	p.Cys356Gly	VAR_023524	rs119103234
2	ANO5	p.Cys356Arg	VAR_023525	rs119103234
3	ANO5	p.Cys356Tyr	VAR_076476

ClinVar genetic disease variations for Gnathodiaphyseal Dysplasia:

⁶

(show top 50) (show all 135)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ANO5	NM_213599.2(ANO5): c.1066T> C (p.Cys356Arg)	single nucleotide variant	Pathogenic	rs119103234	GRCh37	Chromosome 11, 22272339: 22272339
2	ANO5	NM_213599.2(ANO5): c.1066T> C (p.Cys356Arg)	single nucleotide variant	Pathogenic	rs119103234	GRCh38	Chromosome 11, 22250793: 22250793
3	ANO5	NM_213599.2(ANO5): c.1066T> G (p.Cys356Gly)	single nucleotide variant	Pathogenic	rs119103234	GRCh37	Chromosome 11, 22272339: 22272339
4	ANO5	NM_213599.2(ANO5): c.1066T> G (p.Cys356Gly)	single nucleotide variant	Pathogenic	rs119103234	GRCh38	Chromosome 11, 22250793: 22250793
5	ANO5	NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs)	duplication	Pathogenic	rs137854521	GRCh37	Chromosome 11, 22242653: 22242653
6	ANO5	NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs)	duplication	Pathogenic	rs137854521	GRCh38	Chromosome 11, 22221107: 22221107
7	ANO5	NM_213599.2(ANO5): c.692G> T (p.Gly231Val)	single nucleotide variant	Pathogenic/Likely pathogenic	rs137854523	GRCh37	Chromosome 11, 22257752: 22257752
8	ANO5	NM_213599.2(ANO5): c.692G> T (p.Gly231Val)	single nucleotide variant	Pathogenic/Likely pathogenic	rs137854523	GRCh38	Chromosome 11, 22236206: 22236206
9	ANO5	NM_213599.2(ANO5): c.1541C> T (p.Thr514Ile)	single nucleotide variant	Pathogenic	rs397514736	GRCh37	Chromosome 11, 22281198: 22281198
10	ANO5	NM_213599.2(ANO5): c.1541C> T (p.Thr514Ile)	single nucleotide variant	Pathogenic	rs397514736	GRCh38	Chromosome 11, 22259652: 22259652
11	ANO5	NM_213599.2(ANO5): c.41-1G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124625	GRCh37	Chromosome 11, 22225349: 22225349
12	ANO5	NM_213599.2(ANO5): c.41-1G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs398124625	GRCh38	Chromosome 11, 22203803: 22203803
13	ANO5	NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs)	duplication	Pathogenic	rs398124626	GRCh37	Chromosome 11, 22271893: 22271893
14	ANO5	NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs)	duplication	Pathogenic	rs398124626	GRCh38	Chromosome 11, 22250347: 22250347
15	ANO5	NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys)	single nucleotide variant	Pathogenic	rs137854527	GRCh38	Chromosome 11, 22270431: 22270431
16	ANO5	NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys)	single nucleotide variant	Pathogenic	rs137854527	GRCh37	Chromosome 11, 22291977: 22291977
17	ANO5	NM_213599.2(ANO5): c.1898+1G> A	single nucleotide variant	Pathogenic	rs142027093	GRCh37	Chromosome 11, 22284590: 22284590
18	ANO5	NM_213599.2(ANO5): c.1898+1G> A	single nucleotide variant	Pathogenic	rs142027093	GRCh38	Chromosome 11, 22263044: 22263044
19	ANO5	NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser)	single nucleotide variant	Uncertain significance	rs200631556	GRCh37	Chromosome 11, 22294441: 22294441
20	ANO5	NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser)	single nucleotide variant	Uncertain significance	rs200631556	GRCh38	Chromosome 11, 22272895: 22272895
21	ANO5	NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu)	single nucleotide variant	Benign	rs61910685	GRCh37	Chromosome 11, 22296266: 22296266
22	ANO5	NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu)	single nucleotide variant	Benign	rs61910685	GRCh38	Chromosome 11, 22274720: 22274720
23	ANO5	NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del)	deletion	Conflicting interpretations of pathogenicity	rs794727350	GRCh37	Chromosome 11, 22297728: 22297730
24	ANO5	NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del)	deletion	Conflicting interpretations of pathogenicity	rs794727350	GRCh38	Chromosome 11, 22276182: 22276184
25	ANO5	NM_213599.2(ANO5): c.2698A> C (p.Met900Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148293985	GRCh37	Chromosome 11, 22301267: 22301267
26	ANO5	NM_213599.2(ANO5): c.2698A> C (p.Met900Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148293985	GRCh38	Chromosome 11, 22279721: 22279721
27	ANO5	NM_213599.2(ANO5): c.155A> G (p.Asn52Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143777403	GRCh37	Chromosome 11, 22239808: 22239808
28	ANO5	NM_213599.2(ANO5): c.155A> G (p.Asn52Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143777403	GRCh38	Chromosome 11, 22218262: 22218262
29	ANO5	NM_213599.2(ANO5): c.294G> A (p.Ala98=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142858990	GRCh37	Chromosome 11, 22242756: 22242756
30	ANO5	NM_213599.2(ANO5): c.294G> A (p.Ala98=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142858990	GRCh38	Chromosome 11, 22221210: 22221210
31	ANO5	NM_213599.2(ANO5): c.800C> G (p.Thr267Ser)	single nucleotide variant	Benign	rs138144479	GRCh37	Chromosome 11, 22261152: 22261152
32	ANO5	NM_213599.2(ANO5): c.800C> G (p.Thr267Ser)	single nucleotide variant	Benign	rs138144479	GRCh38	Chromosome 11, 22239606: 22239606
33	ANO5	NM_213599.2(ANO5): c.604G> A (p.Glu202Lys)	single nucleotide variant	Benign/Likely benign	rs115750596	GRCh37	Chromosome 11, 22249088: 22249088
34	ANO5	NM_213599.2(ANO5): c.604G> A (p.Glu202Lys)	single nucleotide variant	Benign/Likely benign	rs115750596	GRCh38	Chromosome 11, 22227542: 22227542
35	ANO5	NM_213599.2(ANO5): c.2354T> G (p.Leu785Arg)	single nucleotide variant	Benign/Likely benign	rs146136277	GRCh37	Chromosome 11, 22296233: 22296233
36	ANO5	NM_213599.2(ANO5): c.2354T> G (p.Leu785Arg)	single nucleotide variant	Benign/Likely benign	rs146136277	GRCh38	Chromosome 11, 22274687: 22274687
37	ANO5	NM_213599.2(ANO5): c.304_308delAAAGA (p.Lys102Valfs)	deletion	Pathogenic	rs886041551	GRCh37	Chromosome 11, 22247539: 22247543
38	ANO5	NM_213599.2(ANO5): c.304_308delAAAGA (p.Lys102Valfs)	deletion	Pathogenic	rs886041551	GRCh38	Chromosome 11, 22225993: 22225997
39	ANO5	NM_213599.2(ANO5): c.1042G> A (p.Gly348Ser)	single nucleotide variant	Uncertain significance	rs139344099	GRCh37	Chromosome 11, 22272315: 22272315
40	ANO5	NM_213599.2(ANO5): c.1042G> A (p.Gly348Ser)	single nucleotide variant	Uncertain significance	rs139344099	GRCh38	Chromosome 11, 22250769: 22250769
41	ANO5	NM_213599.2(ANO5): c.553G> C (p.Glu185Gln)	single nucleotide variant	Uncertain significance	rs140381407	GRCh37	Chromosome 11, 22249037: 22249037
42	ANO5	NM_213599.2(ANO5): c.553G> C (p.Glu185Gln)	single nucleotide variant	Uncertain significance	rs140381407	GRCh38	Chromosome 11, 22227491: 22227491
43	ANO5	NM_213599.2(ANO5): c.1203G> T (p.Trp401Cys)	single nucleotide variant	Uncertain significance	rs886042339	GRCh37	Chromosome 11, 22276939: 22276939
44	ANO5	NM_213599.2(ANO5): c.1203G> T (p.Trp401Cys)	single nucleotide variant	Uncertain significance	rs886042339	GRCh38	Chromosome 11, 22255393: 22255393
45	ANO5	NM_213599.2(ANO5): c.2520+6C> T	single nucleotide variant	Uncertain significance	rs886042378	GRCh37	Chromosome 11, 22297751: 22297751
46	ANO5	NM_213599.2(ANO5): c.2520+6C> T	single nucleotide variant	Uncertain significance	rs886042378	GRCh38	Chromosome 11, 22276205: 22276205
47	ANO5	NM_213599.2(ANO5): c.2521-7C> T	single nucleotide variant	Benign/Likely benign	rs201438159	GRCh37	Chromosome 11, 22301083: 22301083
48	ANO5	NM_213599.2(ANO5): c.2521-7C> T	single nucleotide variant	Benign/Likely benign	rs201438159	GRCh38	Chromosome 11, 22279537: 22279537
49	ANO5	NM_213599.2(ANO5): c.680G> C (p.Gly227Ala)	single nucleotide variant	Likely benign	rs140903276	GRCh37	Chromosome 11, 22257740: 22257740
50	ANO5	NM_213599.2(ANO5): c.680G> C (p.Gly227Ala)	single nucleotide variant	Likely benign	rs140903276	GRCh38	Chromosome 11, 22236194: 22236194

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Expression for Gnathodiaphyseal Dysplasia

Search GEO for disease gene expression data for Gnathodiaphyseal Dysplasia.

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Pathways for Gnathodiaphyseal Dysplasia

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GO Terms for Gnathodiaphyseal Dysplasia

Biological processes related to Gnathodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	neurotransmitter transport	GO:0006836	8.96	SLC17A6 SLC6A5
2	positive regulation of epithelial to mesenchymal transition	GO:0010718	8.62	BAMBI COL1A1

Molecular functions related to Gnathodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	symporter activity	GO:0015293	8.62	SLC17A6 SLC6A5

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Sources for Gnathodiaphyseal Dysplasia

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