eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| spasmus nutans | ||||
| Disease ID | 1361 |
|---|---|
| Disease | spasmus nutans |
| Definition | The combination of pendular nystagmus, head nodding, and torticollis. [HPO:probinson, pmid:7499100] |
| Synonym | nodding spasm nodding spasms salaam spasm salaam spasm (finding) salaam spasms spasm, nodding spasms, nodding |
| Orphanet | |
| UMLS | C0546878 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1361 |
|---|---|
| Disease | spasmus nutans |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0000639 | Nystagmus | 1 HP:0009733 | Glioma | 1 HP:0012043 | Pendular nystagmus | 1 HP:0001298 | Encephalopathy | 1 |
| Disease ID | 1361 |
|---|---|
| Disease | spasmus nutans |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000473 | Torticollis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| Disease ID | 1361 |
|---|---|
| Disease | spasmus nutans |
| Case | (Waiting for update.) |