eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hypomelanosis of ito | ||||
| Disease ID | 989 |
|---|---|
| Disease | hypomelanosis of ito |
| Definition | A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous. |
| Synonym | achromians incontinentia pigmenti hmi hmi - hypomelanosis of ito hypomelanosis ito hypomelanosis of ito (disorder) hypomelanosis of ito [ambiguous] incontinentia pigmenti achromians incontinentia pigmenti achromians syndrome incontinentia pigmenti achromians syndrome (disorder) incontinentia pigmenti achromicans of ito incontinentia pigmenti, type i, formerly ip1, formerly ito ito hypomelanosis ito syndrome ito's naevus ito's nevus ito's syndrome naevus fusoceruleus acromiodeltoideus naevus of ito nevus fusoceruleus acromiodeltoideus nevus of ito nevus of ito (disorder) syndrome ito syndrome, ito |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0022283 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0014544 | epilepsy | 1 C0206736 | blue nevus | 1 C0034013 | sexual precocity | 1 C0027961 | nevus of ota | 1 C0497327 | dementia | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:18) 367 | AR | 1.486 | DISEASES 538 | ATP7A | 1.641 | DISEASES 1289 | COL5A1 | 2.935 | DISEASES 1747 | DLX3 | 3.26 | DISEASES 2332 | FMR1 | 1.185 | DISEASES 2778 | GNAS | 1.482 | DISEASES 3481 | IGF2 | 3.673 | DISEASES 8517 | IKBKG | 4.311 | DISEASES 2315 | MLANA | 1.457 | DISEASES 4952 | OCRL | 2.503 | DISEASES 5048 | PAFAH1B1 | 2.473 | DISEASES 5696 | PSMB8 | 2.432 | DISEASES 83695 | RHNO1 | 1.708 | DISEASES 6280 | S100A9 | 1.919 | DISEASES 4089 | SMAD4 | 1.312 | DISEASES 6736 | SRY | 1.336 | DISEASES 157680 | VPS13B | 2.595 | DISEASES 7503 | XIST | 2.711 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 989 |
|---|---|
| Disease | hypomelanosis of ito |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0003764 | Naevus | 2 HP:0100814 | Mongolian spot | 2 HP:0009920 | Congenital melanosis bulbi | 1 HP:0000726 | Dementia | 1 |
| Disease ID | 989 |
|---|---|
| Disease | hypomelanosis of ito |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 989 |
|---|---|
| Disease | hypomelanosis of ito |
| Case | (Waiting for update.) |