MCID: HYP793
MIFTS: 40

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

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

Aliases & Classifications for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

MalaCards integrated aliases for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

Name: Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 57 75
Cranioosteoarthropathy 57 75 13 6 73
Touraine-Solente-Gole Syndrome 57 75
Phoar1 57 75
Osteoarthropathy, Hypertrophic, Primary, Autosomal Recessive, Type 1 40
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 57
Pachydermoperiostosis, Autosomal Recessive 57
Pachydermoperiostosis Autosomal Recessive 75
Osteoarthropathy, Primary Hypertrophic 73
Currarino Idiopathic Osteoarthropathy 59
Reginato-Schiapachasse Syndrome 59
Reginato Schiapachasse Syndrome 73
Pho, Autosomal Recessive 57
Pdp, Autosomal Recessive 57
Cranio Osteoarthropathy 53
Cranio-Osteoarthropathy 59
Pdp Autosomal Recessive 75
Pho Autosomal Recessive 75
Currarino Disease 59
Coa 75

Characteristics:

Orphanet epidemiological data:

59
cranio-osteoarthropathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
exacerbation at puberty
male to female ratio of 7:1
males are more severely affected than females


HPO:

32
hypertrophic osteoarthropathy, primary, autosomal recessive, 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

OMIM : 57 Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008). Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. (259100)

MalaCards based summary : Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1, also known as cranioosteoarthropathy, is related to succinyl-coa:3-oxoacid-coa transferase deficiency and 3-hydroxy-3-methylglutaryl-coa lyase deficiency, and has symptoms including arthralgia, flushing and metatarsalgia. An important gene associated with Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 is HPGD (15-Hydroxyprostaglandin Dehydrogenase). The drugs Etoricoxib and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and skin, and related phenotypes are osteoarthritis and arthritis

UniProtKB/Swiss-Prot : 75 Cranioosteoarthropathy: A form of osteoarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature. Hypertrophic osteoarthropathy, primary, autosomal recessive, 1: A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease.

Related Diseases for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Diseases in the Primary Hypertrophic Osteoarthropathy family:

Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 Secondary Hypertrophic Osteoarthropathy

Diseases related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 333)
# Related Disease Score Top Affiliating Genes
1 succinyl-coa:3-oxoacid-coa transferase deficiency 12.6
2 3-hydroxy-3-methylglutaryl-coa lyase deficiency 12.4
3 malonyl-coa decarboxylase deficiency 12.4
4 peroxisomal acyl-coa oxidase deficiency 12.4
5 acyl-coa dehydrogenase, very long-chain, deficiency of 12.4
6 acyl-coa dehydrogenase, short-chain, deficiency of 12.4
7 2-methylbutyryl-coa dehydrogenase deficiency 12.4
8 acyl-coa dehydrogenase, medium-chain, deficiency of 12.4
9 methylmalonyl-coa epimerase deficiency 12.3
10 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 12.3
11 3-methylcrotonyl-coa carboxylase deficiency 12.3
12 isobutyryl-coa dehydrogenase deficiency 12.3
13 3-hydroxyacyl-coa dehydrogenase deficiency 12.3
14 alpha-methylacyl-coa racemase deficiency 12.3
15 2,4-dienoyl-coa reductase deficiency 12.3
16 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency 12.3
17 multiple acyl-coa dehydrogenase deficiency 12.3
18 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 12.3
19 3-hydroxyisobutyryl-coa hydrolase deficiency 12.2
20 acetyl-coa carboxylase deficiency 12.2
21 3-alpha hydroxyacyl-coa dehydrogenase deficiency 12.1
22 3-methylcrotonyl-coa carboxylase 1 deficiency 12.1
23 peroxisomal fatty acyl-coa reductase 1 disorder 12.1
24 3-methylcrotonyl-coa carboxylase 2 deficiency 12.1
25 succinate-coa ligase deficiency 12.1
26 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 12.0
27 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 11.9
28 3-methylglutaconic aciduria, type i 11.9
29 2-methylacetoacetyl coa thiolase deficiency 11.9
30 hsd10 mitochondrial disease 11.9
31 acetyl-coa acetyltransferase-2 deficiency 11.9
32 isovaleric acidemia 11.9
33 medium chain 3-ketoacyl-coa thiolase deficiency 11.8
34 primary hypertrophic osteoarthropathy 11.8
35 propionic acidemia 11.8
36 3 alpha methylcrotonyl-coa carboxylase 2 deficiency 11.8
37 hmg coa synthetase deficiency 11.8
38 bile acid coa ligase deficiency and defective amidation 11.7
39 transient neonatal multiple acyl-coa dehydrogenase deficiency 11.7
40 mitochondrial complex i deficiency due to acad9 deficiency 11.7
41 glutaric aciduria iii 11.6
42 medium-chain acyl-coenzyme a dehydrogenase deficiency 11.5
43 methylmalonic aciduria and homocystinuria, cblc type 11.5
44 alpha-methylacetoacetic aciduria 11.5
45 mucopolysaccharidosis, type iiic 11.5
46 glutaric acidemia i 11.4
47 mitochondrial trifunctional protein deficiency 11.4
48 d-bifunctional protein deficiency 11.3
49 bile acid synthesis defect, congenital, 4 11.3
50 methylmalonic aciduria, cblb type 11.2

Graphical network of the top 20 diseases related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:



Diseases related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Symptoms & Phenotypes for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
thickened eyelids

Skin Nails Hair Skin:
hyperhidrosis
eczema
redundant skin
palmoplantar hyperkeratosis
flushing
more
Cardiovascular Vascular:
patent ductus arteriosus

Chest Ribs Sternum Clavicles And Scapulae:
long clavicles

Skeletal Limbs:
acroosteolysis
periosteal bone formation
subperiosteal ossification
expanded diaphyses
expanded metaphyses
more
Skeletal Hands:
digital clubbing
enlargement of the hands

Skin Nails Hair Nails:
digital clubbing
turtle-backed nails

Laboratory Abnormalities:
increased urinary prostaglandin e2

Skeletal:
osteopenia
arthritis
osteoporosis
arthralgia
decreased joint mobility
more
Head And Neck Face:
coarse facial features
furrowing of the forehead
prominent facial folds

Skeletal Skull:
wormian bones
thickened calvarium
delayed closure of the fontanels

Head And Neck Mouth:
high-arched palate

Growth Other:
marfanoid habitus

Skeletal Feet:
digital clubbing
enlargement of the feet

Chest External Features:
funnel chest


Clinical features from OMIM:

259100

Human phenotypes related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
2 arthritis 59 32 Frequent (79-30%) HP:0001369
3 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
4 abnormal cortical bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003103
5 joint swelling 59 32 frequent (33%) Frequent (79-30%) HP:0001386
6 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
7 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
8 clubbing of toes 59 32 frequent (33%) Frequent (79-30%) HP:0100760
9 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
10 deviation of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004097
11 abnormality of tibia morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002992
12 abnormality of the knee 59 32 frequent (33%) Frequent (79-30%) HP:0002815
13 mottled pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001070
14 pectus excavatum 32 HP:0000767
15 high palate 32 HP:0000218
16 ptosis 32 HP:0000508
17 osteopenia 32 HP:0000938
18 hyperhidrosis 32 HP:0000975
19 coarse facial features 32 HP:0000280
20 thickened calvaria 32 HP:0002684
21 osteoporosis 32 HP:0000939
22 patent ductus arteriosus 32 HP:0001643
23 limitation of joint mobility 32 HP:0001376
24 wormian bones 32 HP:0002645
25 abnormality of the skull 59 Very frequent (99-80%)
26 disproportionate tall stature 32 HP:0001519
27 seborrheic dermatitis 32 HP:0001051
28 erythema 32 HP:0010783
29 redundant skin 32 HP:0001582
30 palmoplantar hyperkeratosis 32 HP:0000972
31 osteolytic defects of the phalanges of the hand 32 HP:0009771
32 long clavicles 32 HP:0000890
33 clubbing 32 HP:0001217
34 arthropathy 32 HP:0003040
35 eczematoid dermatitis 32 HP:0000976

UMLS symptoms related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:


arthralgia, flushing, metatarsalgia

Drugs & Therapeutics for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Drugs for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoricoxib Approved, Investigational Phase 3 202409-33-4 123619
2 Analgesics Phase 3
3 Analgesics, Non-Narcotic Phase 3
4 Anti-Inflammatory Agents Phase 3
5 Anti-Inflammatory Agents, Non-Steroidal Phase 3
6 Antirheumatic Agents Phase 3
7 Cyclooxygenase 2 Inhibitors Phase 3
8 Cyclooxygenase Inhibitors Phase 3
9 Peripheral Nervous System Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect Observation Study of COX-2 Inhibitor to Treat Primary Hypertrophic Osteoarthropathy Unknown status NCT02438709 Phase 3 COX-2 inhibitor

Search NIH Clinical Center for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Genetic Tests for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Anatomical Context for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

MalaCards organs/tissues related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

41
Heart, Bone, Skin, Tongue

Publications for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Articles related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

# Title Authors Year
1
Incomplete form of Primary Hypertrophic Osteoarthropathy (Touraine-Solente-Gole Syndrome) Masquerading as Polyartrhalgia Diagnosed in Technetium-99m-Methylene Diphosphonate Scintigraphy: An Interesting Case Report. ( 29643673 )
2018
2
Cutis verticis gyrata as a clinical manifestation of Touraine-Solente-Gole' syndrome (pachydermoperiostosis). ( 23853021 )
2013
3
Touraine Solente Gole syndrome: the disease and associated tongue fissuring. ( 19050893 )
2009
4
[Correction of finger clubbing in primary hypertrophic osteoarthropathy (Touraine-Solente-Gole syndrome)]. ( 17497611 )
2007

Variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

UniProtKB/Swiss-Prot genetic disease variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

75
# Symbol AA change Variation ID SNP ID
1 HPGD p.Ala140Pro VAR_046209 rs121434480

ClinVar genetic disease variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

6
(show top 50) (show all 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPGD NM_000860.5(HPGD): c.418G> C (p.Ala140Pro) single nucleotide variant Pathogenic rs121434480 GRCh37 Chromosome 4, 175429850: 175429850
2 HPGD NM_000860.5(HPGD): c.418G> C (p.Ala140Pro) single nucleotide variant Pathogenic rs121434480 GRCh38 Chromosome 4, 174508699: 174508699
3 HPGD NM_000860.5(HPGD): c.232_241delGTTGTAGACCinsCA (p.Val78Glnfs) indel Pathogenic rs587776676 GRCh38 Chromosome 4, 174518054: 174518063
4 HPGD NM_000860.5(HPGD): c.232_241delGTTGTAGACCinsCA (p.Val78Glnfs) indel Pathogenic rs587776676 GRCh37 Chromosome 4, 175439205: 175439214
5 HPGD NM_000860.5(HPGD): c.175_176delCT (p.Leu59Valfs) deletion Pathogenic rs548208942 GRCh37 Chromosome 4, 175443136: 175443137
6 HPGD NM_000860.5(HPGD): c.175_176delCT (p.Leu59Valfs) deletion Pathogenic rs548208942 GRCh38 Chromosome 4, 174521985: 174521986
7 HPGD NM_000860.5(HPGD): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs577045722 GRCh38 Chromosome 4, 174522451: 174522451
8 HPGD NM_000860.5(HPGD): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs577045722 GRCh37 Chromosome 4, 175443602: 175443602
9 HPGD NM_000860.5(HPGD): c.310_311delCT (p.Leu104Alafs) deletion Pathogenic rs587777719 GRCh37 Chromosome 4, 175439135: 175439136
10 HPGD NM_000860.5(HPGD): c.310_311delCT (p.Leu104Alafs) deletion Pathogenic rs587777719 GRCh38 Chromosome 4, 174517984: 174517985
11 HPGD NM_000860.5(HPGD): c.*1726C> T single nucleotide variant Benign rs2612691 GRCh38 Chromosome 4, 174490230: 174490230
12 HPGD NM_000860.5(HPGD): c.*1726C> T single nucleotide variant Benign rs2612691 GRCh37 Chromosome 4, 175411381: 175411381
13 HPGD NM_000860.5(HPGD): c.*1618A> T single nucleotide variant Uncertain significance rs886059242 GRCh38 Chromosome 4, 174490338: 174490338
14 HPGD NM_000860.5(HPGD): c.*1618A> T single nucleotide variant Uncertain significance rs886059242 GRCh37 Chromosome 4, 175411489: 175411489
15 HPGD NM_000860.5(HPGD): c.*1584A> G single nucleotide variant Uncertain significance rs886059243 GRCh38 Chromosome 4, 174490372: 174490372
16 HPGD NM_000860.5(HPGD): c.*1584A> G single nucleotide variant Uncertain significance rs886059243 GRCh37 Chromosome 4, 175411523: 175411523
17 HPGD NM_000860.5(HPGD): c.*1203A> C single nucleotide variant Uncertain significance rs766485728 GRCh38 Chromosome 4, 174490753: 174490753
18 HPGD NM_000860.5(HPGD): c.*1203A> C single nucleotide variant Uncertain significance rs766485728 GRCh37 Chromosome 4, 175411904: 175411904
19 HPGD NM_000860.5(HPGD): c.*941C> T single nucleotide variant Uncertain significance rs886059247 GRCh38 Chromosome 4, 174491015: 174491015
20 HPGD NM_000860.5(HPGD): c.*941C> T single nucleotide variant Uncertain significance rs886059247 GRCh37 Chromosome 4, 175412166: 175412166
21 HPGD NM_000860.5(HPGD): c.*798delA deletion Uncertain significance rs530867889 GRCh38 Chromosome 4, 174491158: 174491158
22 HPGD NM_000860.5(HPGD): c.*798delA deletion Uncertain significance rs530867889 GRCh37 Chromosome 4, 175412309: 175412309
23 HPGD NM_000860.5(HPGD): c.*207G> A single nucleotide variant Uncertain significance rs181290362 GRCh38 Chromosome 4, 174491749: 174491749
24 HPGD NM_000860.5(HPGD): c.*207G> A single nucleotide variant Uncertain significance rs181290362 GRCh37 Chromosome 4, 175412900: 175412900
25 HPGD NM_000860.5(HPGD): c.*132G> A single nucleotide variant Likely benign rs2253170 GRCh38 Chromosome 4, 174491824: 174491824
26 HPGD NM_000860.5(HPGD): c.*132G> A single nucleotide variant Likely benign rs2253170 GRCh37 Chromosome 4, 175412975: 175412975
27 HPGD NM_000860.5(HPGD): c.*54A> T single nucleotide variant Uncertain significance rs886059253 GRCh38 Chromosome 4, 174491902: 174491902
28 HPGD NM_000860.5(HPGD): c.*54A> T single nucleotide variant Uncertain significance rs886059253 GRCh37 Chromosome 4, 175413053: 175413053
29 HPGD NM_000860.5(HPGD): c.680A> G (p.Asn227Ser) single nucleotide variant Uncertain significance rs117270501 GRCh38 Chromosome 4, 174492077: 174492077
30 HPGD NM_000860.5(HPGD): c.680A> G (p.Asn227Ser) single nucleotide variant Uncertain significance rs117270501 GRCh37 Chromosome 4, 175413228: 175413228
31 HPGD NM_000860.5(HPGD): c.489C> T (p.Arg163=) single nucleotide variant Likely benign rs17060544 GRCh38 Chromosome 4, 174495557: 174495557
32 HPGD NM_000860.5(HPGD): c.489C> T (p.Arg163=) single nucleotide variant Likely benign rs17060544 GRCh37 Chromosome 4, 175416708: 175416708
33 HPGD NM_000860.5(HPGD): c.-221G> A single nucleotide variant Uncertain significance rs116796476 GRCh38 Chromosome 4, 174522672: 174522672
34 HPGD NM_000860.5(HPGD): c.-221G> A single nucleotide variant Uncertain significance rs116796476 GRCh37 Chromosome 4, 175443823: 175443823
35 HPGD NM_000860.5(HPGD): c.-235C> A single nucleotide variant Uncertain significance rs886059257 GRCh38 Chromosome 4, 174522686: 174522686
36 HPGD NM_000860.5(HPGD): c.-235C> A single nucleotide variant Uncertain significance rs886059257 GRCh37 Chromosome 4, 175443837: 175443837
37 HPGD NM_000860.5(HPGD): c.-353C> T single nucleotide variant Uncertain significance rs374745050 GRCh38 Chromosome 4, 174522804: 174522804
38 HPGD NM_000860.5(HPGD): c.-353C> T single nucleotide variant Uncertain significance rs374745050 GRCh37 Chromosome 4, 175443955: 175443955
39 HPGD NM_000860.5(HPGD): c.-404G> C single nucleotide variant Benign rs1346271 GRCh38 Chromosome 4, 174522855: 174522855
40 HPGD NM_000860.5(HPGD): c.-404G> C single nucleotide variant Benign rs1346271 GRCh37 Chromosome 4, 175444006: 175444006
41 HPGD NM_000860.5(HPGD): c.*1511A> G single nucleotide variant Uncertain significance rs539552730 GRCh38 Chromosome 4, 174490445: 174490445
42 HPGD NM_000860.5(HPGD): c.*1511A> G single nucleotide variant Uncertain significance rs539552730 GRCh37 Chromosome 4, 175411596: 175411596
43 HPGD NM_000860.5(HPGD): c.*679T> C single nucleotide variant Uncertain significance rs561424050 GRCh38 Chromosome 4, 174491277: 174491277
44 HPGD NM_000860.5(HPGD): c.*679T> C single nucleotide variant Uncertain significance rs561424050 GRCh37 Chromosome 4, 175412428: 175412428
45 HPGD NM_000860.5(HPGD): c.*510G> C single nucleotide variant Uncertain significance rs886059250 GRCh37 Chromosome 4, 175412597: 175412597
46 HPGD NM_000860.5(HPGD): c.*510G> C single nucleotide variant Uncertain significance rs886059250 GRCh38 Chromosome 4, 174491446: 174491446
47 HPGD NM_000860.5(HPGD): c.*87A> G single nucleotide variant Uncertain significance rs45522334 GRCh38 Chromosome 4, 174491869: 174491869
48 HPGD NM_000860.5(HPGD): c.*87A> G single nucleotide variant Uncertain significance rs45522334 GRCh37 Chromosome 4, 175413020: 175413020
49 HPGD NM_000860.5(HPGD): c.-123C> T single nucleotide variant Uncertain significance rs886059256 GRCh38 Chromosome 4, 174522574: 174522574
50 HPGD NM_000860.5(HPGD): c.-123C> T single nucleotide variant Uncertain significance rs886059256 GRCh37 Chromosome 4, 175443725: 175443725

Expression for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

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Pathways for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

GO Terms for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

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