eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| angioma serpiginosum | ||||
| Disease ID | 868 |
|---|---|
| Disease | angioma serpiginosum |
| Definition | A hemangioma arising from the skin, presenting as a red dot. |
| Synonym | angioma serpiginosum (disorder) angioma serpiginosum of skin angioma serpiginosum, x-linked essential telangiectasia essential telangiectasias |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0263637 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:1) |
| Locus | (Waiting for update.) |
| Disease ID | 868 |
|---|---|
| Disease | angioma serpiginosum |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0010783 | Erythema HP:0002213 | Thin hair shaft HP:0000962 | Hyperkeratosis HP:0008070 | Thinned hair HP:0012733 | Macule HP:0011276 | Vascular skin abnormality HP:0008404 | Dystrophic nails HP:0007797 | Retinal vascular malformation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 868 |
|---|---|
| Disease | angioma serpiginosum |
| 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:0008070 | Sparse hair | MP:0010202 | focal dorsal hair loss | focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs |
| HP:0002213 | Fine hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0007797 | Retinal vascular malformation | MP:0009577 | abnormal developmental vascular remodeling | any anomaly in the process by which existing vessels are reorganized during development |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008404 | Nail dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008070 | Sparse hair | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0007797 | Retinal vascular malformation | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002213 | Fine hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| Disease ID | 868 |
|---|---|
| Disease | angioma serpiginosum |
| Case | (Waiting for update.) |