eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| chronic recurrent multifocal osteomyelitis | ||||
| Disease ID | 968 |
|---|---|
| Disease | chronic recurrent multifocal osteomyelitis |
| Definition | An autoinflammatory disease characterized by sterile bone lesions which are multifocal and/or recurrent. |
| Synonym | chronic multifocal osteomyelitis chronic multifocal osteomyelitis (disorder) cmo crmo crmo - chronic multifocal osteomyelitis multifocal osteomyelitis, chronic nbo non-bacterial osteomyelitis osteomyelitis, chronic multifocal |
| Orphanet | |
| OMIM | |
| UMLS | C0410422 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0010346 | crohn's disease | 2 C0553662 | juvenile idiopathic arthritis | 1 C0021390 | inflammatory bowel disease | 1 C0034212 | pyoderma | 1 C0021053 | immune disease | 1 C0021831 | bowel disease | 1 C0006663 | calcinosis | 1 C0009447 | common variable immunodeficiency | 1 C0009319 | colitis | 1 C0009324 | ulcerative colitis | 1 C0003864 | arthritis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:32) 249 | ALPL | 1.483 | DISEASES 262 | AMD1 | 1.467 | DISEASES 284 | ANGPT1 | 2.046 | DISEASES 1822 | ATN1 | 2.66 | DISEASES 632 | BGLAP | 2.173 | DISEASES 796 | CALCA | 1.34 | DISEASES 834 | CASP1 | 3.415 | DISEASES 841 | CASP8 | 2.044 | DISEASES 57703 | CWC22 | 1.839 | DISEASES 54751 | FBLIM1 | 3.11 | DISEASES 2591 | GALNT3 | 3.356 | DISEASES 3459 | IFNGR1 | 1.929 | DISEASES 3586 | IL10 | 1.437 | DISEASES 29949 | IL19 | 2.93 | DISEASES 57614 | KIAA1468 | 4.15 | DISEASES 79104 | MEG8 | 1.607 | DISEASES 8972 | MGAM | 1.806 | DISEASES 4514 | MT-CO3 | 1.566 | DISEASES 114548 | NLRP3 | 3.736 | DISEASES 5251 | PHEX | 1.725 | DISEASES 23556 | PIGN | 2.262 | DISEASES 5313 | PKLR | 2.038 | DISEASES 9051 | PSTPIP1 | 2.97 | DISEASES 9050 | PSTPIP2 | 6.145 | DISEASES 5745 | PTH1R | 1.407 | DISEASES 5789 | PTPRD | 3.039 | DISEASES 6452 | SH3BP2 | 2.336 | DISEASES 6708 | SPTA1 | 1.456 | DISEASES 6772 | STAT1 | 1.456 | DISEASES 7124 | TNF | 2.736 | DISEASES 7133 | TNFRSF1B | 2.116 | DISEASES 644150 | WIPF3 | 3.224 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 968 |
|---|---|
| Disease | chronic recurrent multifocal osteomyelitis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:29) HP:0001061 | Acne HP:0005901 | Chronic recurrent multifocal osteomyelitis HP:0005464 | Craniofacial osteosclerosis HP:0012378 | Fatigue HP:0002653 | Bone pain HP:0001824 | Weight loss HP:0002037 | Inflammation of the large intestine HP:0005930 | Abnormality of epiphysis morphology HP:0002797 | Osteolysis HP:0003565 | Elevated erythrocyte sedimentation rate HP:0001939 | Laboratory abnormality HP:0003765 | Psoriasis HP:0100774 | Hyperostosis HP:0001903 | Anemia HP:0100781 | Abnormality of the sacroiliac joint HP:0002754 | Osteomyelitis HP:0002633 | Vasculitis HP:0002650 | Scoliosis HP:0003468 | Abnormality of the vertebrae HP:0001945 | Fever HP:0100847 | Palmoplantar pustulosis HP:0000988 | Skin rash HP:0004396 | Poor appetite HP:0001369 | Arthritis HP:0000989 | Pruritus HP:0006824 | Cranial nerve paralysis HP:0011227 | Elevated C-reactive protein level HP:0000944 | Abnormality of the metaphyses HP:0000969 | Edema |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0001945 | Fever | 3 HP:0012531 | Pain | 2 HP:0002653 | Bone pain | 2 HP:0002960 | Autoimmune condition | 2 HP:0100280 | Morbus Crohn | 2 HP:0000999 | Pyoderma | 1 HP:0003761 | Calcinosis | 1 HP:0005681 | Juvenile idiopathic arthritis | 1 HP:0100847 | Pustulosis palmaris et plantaris | 1 HP:0100279 | Ulcerative colitis | 1 HP:0001061 | Acne | 1 HP:0001369 | Arthritis | 1 HP:0002583 | Colitis | 1 HP:0100774 | Hyperostosis | 1 HP:0100769 | Synovitis | 1 |
| Disease ID | 968 |
|---|---|
| Disease | chronic recurrent multifocal osteomyelitis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0029408 | degenerative arthritis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011227 | Elevated C-reactive protein level | MP:0008721 | abnormal chemokine level | deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes |
| HP:0002037 | Inflammation of the large intestine | MP:0004842 | abnormal large intestine crypts of Lieberkuhn morphology | any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0003468 | Abnormality of the vertebrae | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0000944 | Abnormality of the metaphyses | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0003565 | Elevated erythrocyte sedimentation rate | MP:0008770 | decreased survivor rate | a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0100781 | Abnormality of the sacroiliac joint | MP:0008304 | abnormal organ of Corti supporting cell differentiation | atypical production of or inability to produce the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0005464 | Craniofacial osteosclerosis | MP:0005422 | osteosclerosis | abnormal hardening or eburnation (change in exposed subchondral bone in degenerative joint disease in which bone is converted into a dense substance with a smooth surface) of bone |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:27) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004396 | Poor appetite | MP:0013467 | diaphragmitis | inflammation of the diaphragm |
| HP:0002754 | Osteomyelitis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005464 | Craniofacial osteosclerosis | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002633 | Vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001061 | Acne | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100781 | Abnormality of the sacroiliac joint | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002037 | Inflammation of the large intestine | MP:0013803 | increased IgG2 level | greater than normal immunoglobulin class G2 level |
| HP:0003765 | Psoriasis | MP:0009967 | abnormal neuron proliferation | any anomaly in the ability of a neuron to undergo rapid expansion by cell division |
| HP:0100774 | Hyperostosis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0011227 | Elevated C-reactive protein level | MP:0008721 | abnormal chemokine level | deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003468 | Abnormality of the vertebrae | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003565 | Elevated erythrocyte sedimentation rate | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 968 |
|---|---|
| Disease | chronic recurrent multifocal osteomyelitis |
| Case | (Waiting for update.) |