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MCID: HYP068
MIFTS: 48

Hyperostosis

Categories: Bone diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hyperostosis

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MalaCards integrated aliases for Hyperostosis:

Name: Hyperostosis 12 54 6 43 15 71
Hypertrophy of Bone 12 32
Bone Hypertrophy 12

Classifications:

MalaCards categories:
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:205
MeSH 43 D015576
NCIt 49 C34712
SNOMED-CT 67 203514008
ICD10 32 M89.3
UMLS 71 C0020492
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Summaries for Hyperostosis

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Disease Ontology : 12 A bone remodeling disease that results in an abnormal growth of located in bone.

MalaCards based summary : Hyperostosis, also known as hypertrophy of bone, is related to endosteal hyperostosis, autosomal dominant and tumoral calcinosis, hyperphosphatemic, familial, 1. An important gene associated with Hyperostosis is SOST (Sclerostin), and among its related pathways/superpathways are Degradation of the extracellular matrix and Senescence and Autophagy in Cancer. The drugs Pamidronate and Diphosphonates have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and brain, and related phenotypes are growth/size/body region and cellular

Wikipedia : 74 Hyperostosis is an excessive growth of bone. It may lead to exostosis. It occurs in many musculoskeletal... more...

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Related Diseases for Hyperostosis

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

(show top 50) (show all 496)
# Related Disease Score Top Affiliating Genes
1 endosteal hyperostosis, autosomal dominant 34.7 TNFRSF11B SOST LRP5 COL1A1
2 tumoral calcinosis, hyperphosphatemic, familial, 1 34.3 KL GALNT3 FGF23
3 sclerosteosis 1 33.9 SOST LRP5 LRP4
4 van buchem disease 33.8 TNFRSF11B TGFB1 SOST LRP5 LRP4 KREMEN1
5 osteopathia striata with cranial sclerosis 33.8 LRP5 AMER1
6 camurati-engelmann disease 33.7 TGFB1 SOST LRP5 ANKH
7 sclerosteosis 33.3 TNFRSF11B TGFB1 SOST LRP5 LRP4 KREMEN1
8 craniodiaphyseal dysplasia 33.1 SOST PTDSS1 LRP5 ANKH
9 sclerosteosis 2 32.9 SOST LRP5 LRP4
10 ankylosis 31.3 TNFRSF11B TGFB1 ANKH
11 familial tumoral calcinosis 30.9 KL GALNT3 FGF23
12 hyperphosphatemia 30.8 TNFRSF11B SPP1 KL GALNT3 FGF23
13 facial paralysis 30.7 TGFB1 SOST LRP5 ANKH
14 rickets 30.7 SPP1 KL FGF23
15 brittle bone disorder 30.6 TNFRSF11B SPP1 SOST LRP5 COL1A1
16 fibrous dysplasia 30.6 TNFRSF11B SPP1 IGF1 FGF23
17 arthropathy 30.6 TNFRSF11B MMP13 IGF1 ANKH
18 calcinosis 30.6 SPP1 KL GALNT3 FGF23 ANKH
19 osteoarthritis 30.5 TNFRSF11B TGFB1 MMP13 IGF1
20 renal osteodystrophy 30.5 TNFRSF11B SOST FGF23
21 chromosome 2q35 duplication syndrome 30.3 SOST LRP4 GJA1
22 mccune-albright syndrome 30.3 SOST LRP5 IGF1 FGF23
23 bone disease 30.2 TNFRSF11B SPP1 SOST MMP13 LRP5 IGF1
24 bone resorption disease 30.2 TNFRSF11B SPP1 SOST LRP5 IGF1 FGF23
25 secondary hyperparathyroidism 30.1 TNFRSF11B KL FGF23
26 osteonecrosis 30.1 TNFRSF11B LRP5 IGF1
27 autosomal recessive hypophosphatemic rickets 30.0 SPP1 KL GALNT3 FGF23
28 hypophosphatemia 30.0 SPP1 KL FGF23
29 scoliosis 30.0 TNFRSF11B TGFB1 SLC39A14 MMP13 IGF1 COL1A1
30 hyperparathyroidism 29.9 TNFRSF11B SOST KL IGF1 FGF23
31 arterial calcification of infancy 29.9 SPP1 KL GALNT3 FGF23 ANKH
32 kidney disease 29.8 TNFRSF11B TGFB1 SPP1 LRP5 FGF23
33 osteoporosis 29.6 TNFRSF11B TGFB1 SPP1 SOST LRP5 KREMEN1
34 chronic kidney disease 29.4 TNFRSF11B TGFB1 SPP1 SOST KL IGF1
35 diffuse idiopathic skeletal hyperostosis 12.9
36 hyperostosis cranialis interna 12.8
37 hyperostosis frontalis interna 12.7
38 calvarial hyperostosis 12.7
39 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 12.6
40 ankylosing vertebral hyperostosis with tylosis 12.5
41 caffey disease 12.5
42 dysplastic cortical hyperostosis 12.4
43 polyosteolysis-hyperostosis syndrome 12.4
44 isolated sternocostoclavicular hyperostosis 12.3
45 paget disease of bone 5, juvenile-onset 12.2
46 sapho syndrome 11.9
47 craniometaphyseal dysplasia, autosomal dominant 11.7
48 tumoral calcinosis, hyperphosphatemic, familial, 2 11.6
49 tumoral calcinosis, hyperphosphatemic, familial, 3 11.6
50 exostosis 11.5

Graphical network of the top 20 diseases related to Hyperostosis:



Diseases related to Hyperostosis
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Symptoms & Phenotypes for Hyperostosis

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MGI Mouse Phenotypes related to Hyperostosis:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.45 AMER1 ANKH COL1A1 COX4I2 FGF23 GALNT3
2 cellular MP:0005384 10.43 AMER1 ANKH COL1A1 GALNT3 GJA1 IGF1
3 homeostasis/metabolism MP:0005376 10.41 AMER1 ANKH COL1A1 COX4I2 FGF23 GALNT3
4 cardiovascular system MP:0005385 10.38 AMER1 ANKH COL1A1 FGF23 GALNT3 GJA1
5 craniofacial MP:0005382 10.29 AMER1 ANKH COL1A1 GALNT3 GJA1 KL
6 limbs/digits/tail MP:0005371 10.28 AMER1 ANKH COL1A1 FGF23 GALNT3 GJA1
7 hematopoietic system MP:0005397 10.27 AMER1 ANKH COL1A1 FGF23 GALNT3 GJA1
8 immune system MP:0005387 10.27 AMER1 ANKH COL1A1 COX4I2 FGF23 GALNT3
9 mortality/aging MP:0010768 10.21 AMER1 ANKH COL1A1 FGF23 GJA1 IGF1
10 endocrine/exocrine gland MP:0005379 10.19 COL1A1 FGF23 GALNT3 GJA1 IGF1 KL
11 integument MP:0010771 10.13 COL1A1 FGF23 GALNT3 GJA1 IGF1 KL
12 muscle MP:0005369 10.02 ANKH COL1A1 GALNT3 GJA1 IGF1 KL
13 hearing/vestibular/ear MP:0005377 9.99 ANKH COL1A1 GJA1 IGF1 KL TNFRSF11B
14 renal/urinary system MP:0005367 9.91 AMER1 COL1A1 FGF23 GALNT3 IGF1 KL
15 reproductive system MP:0005389 9.9 ANKH COL1A1 FGF23 GALNT3 GJA1 IGF1
16 respiratory system MP:0005388 9.65 ANKH COL1A1 COX4I2 FGF23 GJA1 IGF1
17 skeleton MP:0005390 9.55 AMER1 ANKH COL1A1 FGF23 GALNT3 GJA1
Sources

Drugs & Therapeutics for Hyperostosis

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Drugs for Hyperostosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pamidronate Approved Phase 2 40391-99-9 4674
2 Diphosphonates Phase 1
3
Isotretinoin Approved 4759-48-2 5282379 5538
4
Calcifediol Approved, Nutraceutical 19356-17-3 5283731 6433735
5
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
6 Pharmaceutical Solutions
7 Vitamins
8 Hydroxycholecalciferols
9 Dermatologic Agents
10 Calciferol
11 Insulin, Globin Zinc
12 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate in a Randomised Placebo Controlled Trial Unknown status NCT02594878 Phase 2 Pamidronatdinatrium
2 Unrandomized, Open Label Single-center Study to Assess the Long Term Efficacy of Intravenous Bisphosphonates for Bone Marrow Edema in Patients With SAPHO Syndrome Completed NCT02544659 Phase 1 pamidronate disodium
3 Comparative Study of The Relationship Between the Sacroiliac Joint (SIJ) and Lumbopelvic Configurations With SIJ Nerve Entrapments and Chronic Low Back Pain Unknown status NCT02115009
4 Immune Mechanisms During SAPHO Syndrome and Treatment by Etarnecept Completed NCT01688219
5 A Prospective, Randomized, Multicenter Clinical Study to Compare the Safety and Efficacy of TC-A PS Total Knee System With TC-PLUS Solution PS Total Knee System in Chinese Subjects Completed NCT02139345
6 The Relationship Between Serum 25 Hydroxy Vitamin D Levels and Musculoskeletal Adverse Effects in Patients With Acne Vulgaris Using Isotretinoin: A Cross-sectional Controlled Study Completed NCT04204304 Isotretinoin
7 Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630460
8 Magnetic Resonance Imaging in High Risk Patients for the Development of Diffuse Idiopathic Skeletal Hyperostosis (DISH) Recruiting NCT03237455
9 Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease Recruiting NCT02504879
10 Prophylaxis Low-Dose Radiation Therapy for Heterotopic Ossification in Distal Humerus Fractures Recruiting NCT03724422

Search NIH Clinical Center for Hyperostosis

Cochrane evidence based reviews: hyperostosis

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Genetic Tests for Hyperostosis

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Anatomical Context for Hyperostosis

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MalaCards organs/tissues related to Hyperostosis:

40
Bone, Spinal Cord, Brain, Heart, Skin, Bone Marrow, Neutrophil
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Publications for Hyperostosis

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Articles related to Hyperostosis:

(show top 50) (show all 3507)
# Title Authors PMID Year
1
Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis. 61 54
18538647 2008
2
Prenatal cortical hyperostosis with COL1A1 gene mutation. 54 61
18553566 2008
3
A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome. 61 54
18322299 2008
4
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. 61 54
17009344 2006
5
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 54 61
15869924 2005
6
Craniocervical junction involvement in musculoskeletal diseases: an area of close collaboration between rheumatologists and radiologists. 61
32088810 2020
7
Demographic, clinical, and scintigraphic comparison of patients affected by palmoplantar pustulosis and severe acne: a retrospective study. 61
31953569 2020
8
A single cohort, open-label study of the efficacy of pamidronate for palmoplantar pustulosis in synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. 61
32573425 2020
9
Design of primers for direct sequencing of nine coding exons in the human ACVR1 gene. 61
32512165 2020
10
Metabolic diseases in Andean paleopathology: Retrospect and prospect. 61
31377145 2020
11
Osteoid osteoma of the hip: imaging features. 61
32561955 2020
12
Temporal bone meningiomas: emphasizing radiologic signs to improve preoperative diagnosis. 61
32533237 2020
13
Internal Acoustic Canal Stenosis Due to Hyperostosis. 61
32499994 2020
14
Anterior Cervical Idiopathic Hyperostosis and Dysphagia: The Impact of Surgical Management-Study of a Series of 11 Cases. 61
32109645 2020
15
Comments on the Article "Arthroscopic Treatment for Femoroacetabular Impingement with Extraspinal Diffuse Idiopathic Skeletal Hyperostosis": To the Editor. 61
32489551 2020
16
Comments on the Article "Arthroscopic Treatment for Femoroacetabular Impingement with Extraspinal Diffuse Idiopathic Skeletal Hyperostosis": In Reply. 61
32489552 2020
17
Differences between diffuse idiopathic skeletal hyperostosis and spondyloarthritis. 61
32571112 2020
18
DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS WITH SECONDARY DYSPHAGIA IN A BLACK-HANDED SPIDER MONKEY (ATELES GEOFFROYI). 61
32549579 2020
19
Radiographic overlap of recurrent Caffey disease and chronic recurrent multifocal osteomyelitis (CRMO) with considerations of molecular origins. 61
31873763 2020
20
Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups. 61
32397996 2020
21
Prevalence of anti-cyclic citrullinated peptide antibodies in patients with spondyloarthritis: A retrospective study. 61
32340503 2020
22
Orofacial manifestations of SAPHO syndrome: a systematic review of case reports. 61
32388746 2020
23
Protruding Meningioma of the Forehead With Extensive Hyperostosis Mimicking Skull Osteoma. 61
32371685 2020
24
A multimodal diagnostic approach to inverted papilloma: Proposal of a novel diagnostic flow-chart. 61
32540138 2020
25
Defective O-glycosylation of novel FGF23 mutations in a Chinese family with hyperphosphatemic familial tumoral calcinosis. 61
32360901 2020
26
A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis. 61
32387835 2020
27
Surgical stabilization of spinal metastasis in diffuse idiopathic skeletal hyperostosis ("Mets-on-DISH"): Two case reports. 61
32481429 2020
28
Diffuse Idiopathic Skeletal Hyperostosis of the Cervical Spine: A Risk for Acute Airway Obstruction. 61
32469245 2020
29
Diffuse idiopathic skeletal hyperostosis: Etiology and clinical relevance. 61
32456997 2020
30
Functional characterization of a unique mutant of ALK2, p.K400E, that is associated with a skeletal disorder, diffuse idiopathic skeletal hyperostosis. 61
32437875 2020
31
Thoracic hyperextension injury with opening wedge distraction fracture in DISH -consideration of surgical strategy based on intraoperative pathological findings. 61
32178994 2020
32
Activities of Daily Living after Surgical Treatment for Osteoporotic Vertebral Fracture with or without Diffuse Idiopathic Skeletal Hyperostosis: A Retrospective Single-Institutional Study. 61
32460468 2020
33
Skeletal deformities in wild and farmed cleaner fish species used in Atlantic salmon Salmo salar aquaculture. 61
32243571 2020
34
SAPHO syndrome of the temporomandibular joint associated with trismus: a case report and review of the literature. 61
31414280 2020
35
Imaging features in patients with SAPHO/CRMO: a pictorial review. 61
32356235 2020
36
A retrospective study of bone scintigraphy in the follow-up of patients with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: is it useful to repeat bone scintigraphy for disease assessment? 61
31858336 2020
37
Efficacy of tofacitinib in synovitis, acne, pustulosis, hyperostosis and osteitis syndrome: a pilot study with clinical and MRI evaluation. 61
32332076 2020
38
Pediatric Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) Syndrome: Diagnostic Challenges and Treatment Approach. 61
32399329 2020
39
Swallowing Difficulty in Diffuse Idiopathic Skeletal Hyperostosis with Metabolic Syndrome. 61
32395457 2020
40
Diffuse idiopathic skeletal hyperostosis with esophageal involvement mimicking esophageal cancer. 61
32343820 2020
41
Diffuse idiopathic skeletal hyperostosis with esophageal involvement mimicking esophageal cancer. 61
31586426 2020
42
Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7). 61
32298837 2020
43
Radiological evaluation of Hyperostosis frontalis interna: is it of clinical importance? 61
32142095 2020
44
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. 61
31695177 2020
45
Bone strength of the proximal femur in healthy subjects with ossification of the posterior longitudinal ligament. 61
31814062 2020
46
Lethal mesenteric perforation by osteophytes after blunt abdominal trauma. 61
32239426 2020
47
Acute-on-Chronic Vertex Epidural Hematoma with Diastasis of the Sagittal Suture in an Adult. 61
32330616 2020
48
Prevalence of Diffuse Idiopathic Skeletal Hyperostosis in the General Elderly Population: A Japanese Cohort Survey Randomly Sampled From a Basic Resident Registry. 61
31851012 2020
49
Whole Spine CT Scan for the Detection of Acute Spinal Fractures in Diffuse Idiopathic Skeletal Hyperostosis Patients Who Sustained Low-energy Trauma. 61
32341308 2020
50
Progressive proptosis secondary to pneumosinus dilatans of the ethmoidal sinus in a pediatric patient. 61
32316816 2020
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Variations for Hyperostosis

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ClinVar genetic disease variations for Hyperostosis:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLR3GL NM_032305.3(POLR3GL):c.326-1G>ASNV Likely pathogenic 617636 rs1553763618 1:145457605-145457605 1:145977482-145977482
2 POLR3GL NM_032305.3(POLR3GL):c.-41-1G>ASNV Likely pathogenic 617676 rs782661984 1:145460264-145460264 1:145974824-145974824
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Expression for Hyperostosis

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Search GEO for disease gene expression data for Hyperostosis.
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Pathways for Hyperostosis

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Pathways related to Hyperostosis according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 65
Show member pathways
 12.53 TGFB1 SPP1 MMP13 LRP4 COL1A1
2
Senescence and Autophagy in Cancer 1
11.73 TGFB1 IGF1 COL1A1
3
Mesenchymal Stem Cells and Lineage-specific Markers 64
11.65 TGFB1 SPP1 IGF1 GJA1
4
Lung fibrosis 1
11.43 TGFB1 SPP1 IGF1
5
Cell adhesion_ECM remodeling 22
11.39 MMP13 IGF1 COL1A1
6
Endochondral Ossification 1
11.37 TGFB1 SPP1 MMP13 IGF1
7
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.17 SPP1 MMP13 COL1A1
8
Parathyroid hormone synthesis, secretion and action 36
11.05 SOST MMP13 LRP5 KL FGF23
9
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
10.91 TNFRSF11B SPP1 IGF1 COL1A1
10
TarBasePathway 1
10.82 IGF1 GJA1
11
Negative regulation of TCF-dependent signaling by WNT ligand antagonists 65
Show member pathways
 10.82 SOST LRP5 KREMEN1
12
G-protein signaling_Rap2B regulation pathway 22
10.8 TGFB1 SPP1 IGF1 FGF23 COL1A1
13
Osteoclast Signaling 1
10.71 TNFRSF11B SPP1
14
Osteoblast Signaling 1
10.48 TNFRSF11B FGF23 COL1A1
Sources

GO Terms for Hyperostosis

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Cellular components related to Hyperostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 TNFRSF11B TGFB1 SPP1 SOST MMP13 KL
2 extracellular matrix GO:0031012 9.46 TNFRSF11B TGFB1 MMP13 COL1A1
3 extracellular space GO:0005615 9.28 TNFRSF11B TGFB1 SPP1 SOST MMP13 KL

Biological processes related to Hyperostosis according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.83 TNFRSF11B SPP1 MMP13 COL1A1
2 cellular protein metabolic process GO:0044267 9.78 SPP1 MMP13 IGF1 FGF23
3 response to estradiol GO:0032355 9.76 TGFB1 GJA1 COL1A1
4 ossification GO:0001503 9.75 SPP1 SOST COL1A1
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.73 TGFB1 LRP4 IGF1
6 negative regulation of canonical Wnt signaling pathway GO:0090090 9.71 SOST LRP4 KREMEN1 AMER1
7 positive regulation of transcription, DNA-templated GO:0045893 9.7 TGFB1 SPP1 SOST LRP5 IGF1 FGF23
8 cellular response to mechanical stimulus GO:0071260 9.69 TGFB1 GJA1 COL1A1
9 fibroblast growth factor receptor signaling pathway GO:0008543 9.67 KL GALNT3 FGF23
10 Wnt signaling pathway GO:0016055 9.65 SOST LRP5 LRP4 KREMEN1 AMER1
11 bone development GO:0060348 9.63 LRP5 GJA1 AMER1
12 skeletal system development GO:0001501 9.62 TNFRSF11B IGF1 COL1A1 ANKH
13 response to peptide hormone GO:0043434 9.61 LRP5 GJA1 COL1A1
14 bone remodeling GO:0046849 9.6 LRP5 GJA1
15 response to vitamin D GO:0033280 9.59 TGFB1 SPP1
16 positive regulation of transcription regulatory region DNA binding GO:2000679 9.57 TGFB1 IGF1
17 response to magnesium ion GO:0032026 9.55 TNFRSF11B FGF23
18 cell activation GO:0001775 9.54 TGFB1 IGF1
19 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.37 KL FGF23
20 cellular response to parathyroid hormone stimulus GO:0071374 9.13 SOST GJA1 FGF23
21 negative regulation of ossification GO:0030279 8.92 TGFB1 SOST LRP4 KREMEN1
Sources

Sources for Hyperostosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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