eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| xanthoma disseminatum | ||||
| Disease ID | 1821 |
|---|---|
| Disease | xanthoma disseminatum |
| Definition | Xanthoma disseminatum (also known as Disseminated xanthosiderohistiocytosis[1] and Montgomery syndrome[2]) is a rare cutaneous condition that preferentially affects males in childhood, characterized by the insidious onset of small, yellow-red to brown papules and nodules that are discrete and disseminated.[2]:717 - Wikipedia Reference: https://en.wikipedia.org/wiki/xanthoma disseminatum |
| Synonym | diffuse xanthoma diffuse xanthoma (disorder) disseminated xanthosiderohistiocytosis disseminatum, xanthoma xanthoma disseminatum (disorder) xanthoma multiplex |
| Orphanet | |
| UMLS | C0043322 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1821 |
|---|---|
| Disease | xanthoma disseminatum |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0000159 | Abnormality of the lip HP:0000873 | Diabetes insipidus HP:0002109 | Abnormality of the bronchi HP:0000600 | Abnormality of the pharynx HP:0001600 | Abnormality of the larynx HP:0002797 | Osteolysis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1821 |
|---|---|
| Disease | xanthoma disseminatum |
| Manually Symptom | (Waiting for update.) |
| 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002109 | Abnormality of the bronchi | MP:0004751 | increased length of allograft survival | compared to controls, a greater length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive |
| HP:0001600 | Abnormality of the larynx | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000600 | Abnormality of the pharynx | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001600 | Abnormality of the larynx | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0000873 | Diabetes insipidus | 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:0000600 | Abnormality of the pharynx | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002109 | Abnormality of the bronchi | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 1821 |
|---|---|
| Disease | xanthoma disseminatum |
| Case | (Waiting for update.) |