GDD
MCID: GNT026
MIFTS: 41

Gnathodiaphyseal Dysplasia (GDD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Gnathodiaphyseal Dysplasia

MalaCards integrated aliases for Gnathodiaphyseal Dysplasia:

Name: Gnathodiaphyseal Dysplasia 57 25 59 74 37 29 13 6
Gdd 57 25 59 74
Osteogenesis Imperfecta with Unusual Skeletal Lesions 57 25 74
Gnathodiaphyseal Sclerosis 57 25 74
Osteogenesis Imperfecta, Levin Type 25 72
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:



External Ids:

OMIM 57 166260
KEGG 37 H00498
MeSH 44 D010013
Orphanet 59 ORPHA53697
MedGen 42 C1833736
UMLS 72 C1833736

Summaries for Gnathodiaphyseal Dysplasia

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. While most bone tissue is less dense than normal in gnathodiaphyseal dysplasia, the outer layer (cortex) of the shafts of the long bones in the arms and legs is abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also occurs in this disorder. Jaw problems are common in gnathodiaphyseal dysplasia; the prefix "gnatho-" in the condition name refers to the jaw. Affected individuals may develop bone infections (osteomyelitis) in the jaw, which can lead to pain, swelling, discharge of pus from the gums, loose teeth, and slow healing after teeth are lost or extracted. Areas of the jawbone may lose the protective coverage of the gums, which can result in deterioration of the exposed bone (osteonecrosis of the jaw). Also, normal bone in areas of the jaw may be replaced by fibrous tissue and a hard material called cementum, which normally surrounds the roots of teeth and anchors them in the jaw. These areas of abnormal bone, called cementoosseous lesions, may be present at birth or develop later in life. When gnathodiaphyseal dysplasia was first described, it was thought to be a variation of another bone disorder called osteogenesis imperfecta, which is also characterized by frequent bone fractures. However, gnathodiaphyseal dysplasia is now generally considered to be a separate condition. Unlike in osteogenesis imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without causing deformity or loss of height.

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 bowing of the long bones and broad jaw

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)

KEGG : 37
Gnathodiaphyseal dysplasia is a rare skeletal syndrome with autosomal dominant inheritance. It is characterized by cemento-osseous lesions of the jawbone, bone fragility, and sclerosis of tubular bones. Missense mutations of GDD1, which shows homology to TMEM16E, were identified.

UniProtKB/Swiss-Prot : 74 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.

Related Diseases for Gnathodiaphyseal Dysplasia

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta levin type 11.4
2 fibrous dysplasia 10.4
3 osteomyelitis 10.4
4 brittle bone disorder 10.3
5 bone disease 10.3
6 bone resorption disease 10.3
7 col1a1/2-related osteogenesis imperfecta 10.3
8 pulmonary alveolar microlithiasis 10.2
9 hemorrhagic disease 10.2
10 rubella 10.2
11 cherubism 10.1
12 endosteal hyperostosis, autosomal dominant 10.1
13 fibroma 10.1
14 osteonecrosis 10.1
15 osteopetrosis 10.1
16 ossifying fibroma 10.1
17 ano5 muscle disease 10.1
18 high bone mass osteogenesis imperfecta 10.1
19 kleine-levin hibernation syndrome 9.9
20 fanconi anemia, complementation group f 9.5 GAS2 FANCF

Graphical network of the top 20 diseases related to Gnathodiaphyseal Dysplasia:



Diseases related to Gnathodiaphyseal Dysplasia

Symptoms & Phenotypes for Gnathodiaphyseal Dysplasia

Human phenotypes related to Gnathodiaphyseal Dysplasia:

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
bone fragility
jaw lesions show fibroblasts in fibrous stromal tissue

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

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

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

Head And Neck Mouth:
jaw infection (osteomyelitis)

Clinical features from OMIM:

166260

MGI Mouse Phenotypes related to Gnathodiaphyseal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 ANO5 BAMBI COL1A1 NELL1 SLC17A6 SLC6A5
2 craniofacial MP:0005382 9.26 BAMBI COL1A1 NELL1 SLC6A5
3 reproductive system MP:0005389 9.02 ANO5 COL1A1 FANCF GAS2 SLC6A5

Drugs & Therapeutics for Gnathodiaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Gnathodiaphyseal Dysplasia

Genetic Tests for Gnathodiaphyseal Dysplasia

Genetic tests related to Gnathodiaphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Gnathodiaphyseal Dysplasia 29 ANO5

Anatomical Context for Gnathodiaphyseal Dysplasia

MalaCards organs/tissues related to Gnathodiaphyseal Dysplasia:

41
Bone, Cortex

Publications for Gnathodiaphyseal Dysplasia

Articles related to Gnathodiaphyseal Dysplasia:

(show all 36)
# Title Authors PMID Year
1
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. 38 8 71
23047743 2013
2
The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). 38 8 71
15124103 2004
3
[Familial cases of a new systemic bone disease, hereditary gnatho-diaphyseal sclerosis]. 8 71
5816667 1969
4
Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1. 38 8
12619924 2003
5
Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. 38 8
11547842 2001
6
Osteogenesis imperfecta with unusual skeletal lesions: report of three families. 38 8
4014312 1985
7
Fragile bone syndrome associated with craniognathic fibro-osseous lesions and abnormal modeling of the tubular bones: report of two cases and review of the literature. 8
8958616 1996
8
Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws. (Report of a case). 8
6517811 1984
9
Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD). 38
30712070 2019
10
Role of anoctamin 5, a gene associated with gnathodiaphyseal dysplasia, in osteoblast and osteoclast differentiation. 38
30557634 2019
11
Recurrent femoral shaft fractures in a child with gnathodiaphyseal dysplasia: a case report. 38
30797234 2019
12
Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies. 38
30641283 2019
13
Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia. 38
30554457 2019
14
Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia. 38
29124309 2018
15
A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide. 38
29665321 2018
16
Prosthodontic Treatment of a Patient with Gnathodiaphyseal Dysplasia: 30-Year Follow-up. 38
29518808 2018
17
Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). 38
29175271 2018
18
Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. 38
28176803 2017
19
A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis. 38
27541832 2017
20
Gnathodiaphyseal Dysplasia: Surgical Treatment and Prosthetic Rehabilitation of 2 Members of the Same Family. 38
27376179 2016
21
Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene. 38
27068316 2016
22
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. 38
27216912 2016
23
Modulating Ca²⁺ signals: a common theme for TMEM16, Ist2, and TMC. 38
26700940 2016
24
COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? 38
24891183 2015
25
Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia. 38
25866257 2015
26
Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy. 38
26693275 2015
27
Gnathodiaphyseal dysplasia. 38
24776605 2014
28
TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming ability. 38
23843187 2014
29
Recurring gnathodiaphyseal dysplasia in two Russian brothers. 38
20005074 2010
30
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 38
20096397 2010
31
Amphiregulin induces proliferative activities in osseous dysplasia. 38
19587163 2009
32
Expression cloning of TMEM16A as a calcium-activated chloride channel subunit. 38
18805094 2008
33
Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. 38
17418107 2007
34
Gnathodiaphyseal dysplasia. 38
17189853 2007
35
Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1. 38
15882990 2005
36
Characterization of human TMEM16G gene in silico. 38
15375614 2004

Variations for Gnathodiaphyseal Dysplasia

ClinVar genetic disease variations for Gnathodiaphyseal Dysplasia:

6 (show top 50) (show all 146)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ANO5 NM_213599.2(ANO5): c.299del (p.Arg100fs) deletion Pathogenic rs1064793358 11:22247534-22247534 11:22225988-22225988
2 ANO5 NM_213599.2(ANO5): c.1078T> C (p.Cys360Arg) single nucleotide variant Pathogenic rs1554929292 11:22272351-22272351 11:22250805-22250805
3 ANO5 NM_213599.2(ANO5): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs1168346560 11:22239801-22239801 11:22218255-22218255
4 ANO5 NM_213599.2(ANO5): c.412G> T (p.Glu138Ter) single nucleotide variant Pathogenic rs1554924356 11:22248896-22248896 11:22227350-22227350
5 ANO5 NM_213599.2(ANO5): c.220C> T (p.Arg74Ter) single nucleotide variant Pathogenic rs749645231 11:22242682-22242682 11:22221136-22221136
6 ANO5 NM_213599.2(ANO5): c.1066T> C (p.Cys356Arg) single nucleotide variant Pathogenic rs119103234 11:22272339-22272339 11:22250793-22250793
7 ANO5 NM_213599.2(ANO5): c.1066T> G (p.Cys356Gly) single nucleotide variant Pathogenic rs119103234 11:22272339-22272339 11:22250793-22250793
8 ANO5 NM_213599.2(ANO5): c.1295C> G (p.Ala432Gly) single nucleotide variant Pathogenic rs137854524 11:22277031-22277031 11:22255485-22255485
9 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic rs398124625 11:22225349-22225349 11:22203803-22203803
10 ANO5 NM_213599.2(ANO5): c.989dup (p.Leu330fs) duplication Pathogenic rs398124626 11:22271893-22271893 11:22250347-22250347
11 ANO5 NM_213599.2(ANO5): c.2272C> T (p.Arg758Cys) single nucleotide variant Pathogenic rs137854529 11:22296151-22296151 11:22274605-22274605
12 ANO5 NM_213599.2(ANO5): c.1541C> T (p.Thr514Ile) single nucleotide variant Pathogenic rs397514736 11:22281198-22281198 11:22259652-22259652
13 ANO5 NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys) single nucleotide variant Pathogenic rs137854527 11:22291977-22291977 11:22270431-22270431
14 ANO5 NM_213599.2(ANO5): c.1520del (p.Phe507fs) deletion Pathogenic rs794727158 11:22281177-22281177 11:22259631-22259631
15 ANO5 NM_213599.2(ANO5): c.1898+1G> A single nucleotide variant Pathogenic rs142027093 11:22284590-22284590 11:22263044-22263044
16 ANO5 NM_213599.2(ANO5): c.304_308del (p.Lys102fs) deletion Pathogenic rs776859202 11:22247539-22247543 11:22225993-22225997
17 ANO5 NM_213599.2(ANO5): c.2004del (p.Leu669fs) deletion Pathogenic rs886043172 11:22291963-22291963 11:22270417-22270417
18 ANO5 NM_213599.2(ANO5): c.1627dup (p.Met543fs) duplication Pathogenic rs281865480 11:22281284-22281284 11:22259738-22259738
19 ANO5 NM_213599.2(ANO5): c.1737dup (p.Gly580fs) duplication Pathogenic 11:22283781-22283781 11:22262235-22262235
20 ANO5 NM_213599.2(ANO5): c.775A> T (p.Lys259Ter) single nucleotide variant Pathogenic 11:22261127-22261127 11:22239581-22239581
21 ANO5 NM_213599.2(ANO5): c.873_876del (p.Ile292fs) deletion Pathogenic 11:22261223-22261226 11:22239679-22239682
22 ANO5 NM_213599.2(ANO5): c.1213C> T (p.Gln405Ter) single nucleotide variant Pathogenic/Likely pathogenic rs368970223 11:22276949-22276949 11:22255403-22255403
23 ANO5 NM_213599.2(ANO5): c.139-1del deletion Pathogenic/Likely pathogenic rs868484837 11:22239791-22239791 11:22218245-22218245
24 ANO5 NM_213599.2(ANO5): c.762+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs372221490 11:22257823-22257823 11:22236277-22236277
25 ANO5 NM_213599.2(ANO5): c.191dup (p.Asn64fs) duplication Pathogenic/Likely pathogenic rs137854521 11:22242653-22242653 11:22221107-22221107
26 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 11:22257752-22257752 11:22236206-22236206
27 ANO5 NM_213599.2(ANO5): c.1088G> A (p.Trp363Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1554929301 11:22272361-22272361 11:22250815-22250815
28 ANO5 NM_213599.2(ANO5): c.1120-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs561719071 11:22272496-22272496 11:22250950-22250950
29 ANO5 NM_213599.2(ANO5): c.295-1G> A single nucleotide variant Likely pathogenic 11:22247529-22247529 11:22225983-22225983
30 ANO5 NC_000011.9: g.(?_22239792)_(22242756_?)del deletion Likely pathogenic 11:22239792-22242756 11:22218246-22221210
31 ANO5 NC_000011.9: g.(?_22294310)_(22297765_?)del deletion Likely pathogenic 11:22294310-22297765 11:22272764-22276219
32 ANO5 NM_213599.2(ANO5): c.879-7_879-6del deletion Conflicting interpretations of pathogenicity rs143977836 11:22271776-22271777 11:22250230-22250231
33 ANO5 NM_213599.2(ANO5): c.1031C> G (p.Pro344Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs541372136 11:22272304-22272304 11:22250758-22250758
34 ANO5 NM_213599.2(ANO5): c.1538C> T (p.Thr513Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs281865467 11:22281195-22281195 11:22259649-22259649
35 ANO5 NM_213599.2(ANO5): c.1962A> G (p.Arg654=) single nucleotide variant Conflicting interpretations of pathogenicity rs1057521970 11:22291921-22291921 11:22270375-22270375
36 ANO5 NM_213599.2(ANO5): c.2498T> A (p.Met833Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs142073798 11:22297723-22297723 11:22276177-22276177
37 ANO5 NM_213599.2(ANO5): c.369G> A (p.Ser123=) single nucleotide variant Conflicting interpretations of pathogenicity rs199888040 11:22248853-22248853 11:22227307-22227307
38 ANO5 NM_213599.2(ANO5): c.2521-1del deletion Conflicting interpretations of pathogenicity rs752982710 11:22301089-22301089 11:22279543-22279543
39 ANO5 NM_213599.2(ANO5): c.720G> T (p.Leu240=) single nucleotide variant Conflicting interpretations of pathogenicity rs147121216 11:22257780-22257780 11:22236234-22236234
40 ANO5 NM_213599.2(ANO5): c.18C> T (p.Leu6=) single nucleotide variant Conflicting interpretations of pathogenicity rs1257688225 11:22215056-22215056 11:22193510-22193510
41 ANO5 NM_213599.2(ANO5): c.169C> T (p.Arg57Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1323349209 11:22239822-22239822 11:22218276-22218276
42 ANO5 NM_213599.2(ANO5): c.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs563666662 11:22291914-22291914 11:22270368-22270368
43 ANO5 NM_213599.2(ANO5): c.2259A> G (p.Ser753=) single nucleotide variant Conflicting interpretations of pathogenicity rs61746201 11:22296138-22296138 11:22274592-22274592
44 ANO5 NM_213599.2(ANO5): c.1029C> T (p.Asp343=) single nucleotide variant Conflicting interpretations of pathogenicity rs78899595 11:22272302-22272302 11:22250756-22250756
45 ANO5 NM_213599.2(ANO5): c.2503_2505del (p.Phe835del) deletion Conflicting interpretations of pathogenicity rs794727350 11:22297728-22297730 11:22276182-22276184
46 ANO5 NM_213599.2(ANO5): c.2521C> G (p.His841Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs781027702 11:22301090-22301090 11:22279544-22279544
47 ANO5 NM_213599.2(ANO5): c.2698A> C (p.Met900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148293985 11:22301267-22301267 11:22279721-22279721
48 ANO5 NM_213599.2(ANO5): c.172C> T (p.Arg58Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201725369 11:22239825-22239825 11:22218279-22218279
49 ANO5 NM_213599.2(ANO5): c.155A> G (p.Asn52Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143777403 11:22239808-22239808 11:22218262-22218262
50 ANO5 NM_213599.2(ANO5): c.294G> A (p.Ala98=) single nucleotide variant Conflicting interpretations of pathogenicity rs142858990 11:22242756-22242756 11:22221210-22221210

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

74
# 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

Expression for Gnathodiaphyseal Dysplasia

Search GEO for disease gene expression data for Gnathodiaphyseal Dysplasia.

Pathways for Gnathodiaphyseal Dysplasia

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 positive regulation of canonical Wnt signaling pathway GO:0090263 9.16 COL1A1 BAMBI
2 positive regulation of epithelial to mesenchymal transition GO:0010718 8.96 COL1A1 BAMBI
3 neurotransmitter transport GO:0006836 8.62 SLC6A5 SLC17A6

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 SLC6A5 SLC17A6

Sources for Gnathodiaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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38 LifeMap
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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