eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| neurogenic thoracic outlet syndrome | ||||
| Disease ID | 1815 |
|---|---|
| Disease | neurogenic thoracic outlet syndrome |
| Synonym | neurogenic thoracic outlet syndrome (disorder) thoracic outlet syndrome, neurogenic |
| Orphanet | |
| UMLS | C0751549 |
| SNOMED-CT | |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1815 |
|---|---|
| Disease | neurogenic thoracic outlet syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0002829 | Arthralgia HP:0003401 | Paresthesia HP:0012534 | Dysesthesia HP:0003326 | Myalgia HP:0000763 | Sensory neuropathy HP:0001324 | Muscle weakness HP:0003457 | EMG abnormality HP:0000772 | Abnormality of the ribs |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1815 |
|---|---|
| Disease | neurogenic thoracic outlet syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0422833 | ent symptoms |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0000772 | Abnormality of the ribs | 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 |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000772 | Abnormality of the ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0012534 | Dysesthesia | MP:0011091 | prenatal lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5) |
| HP:0000763 | Sensory neuropathy | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| Disease ID | 1815 |
|---|---|
| Disease | neurogenic thoracic outlet syndrome |
| Case | (Waiting for update.) |