eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acrokeratoelastoidosis | ||||
| Disease ID | 1736 |
|---|---|
| Disease | acrokeratoelastoidosis |
| Definition | A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight |
| Synonym | acrokerato-elastoidosis acrokerato-elastoidosis (disorder) acrokeratoelastoidosis of costa ake collagenous plaques of hand and feet collagenous plaques of hands and feet palmoplantar keratoderma, punctate type 3 palmoplantar keratoderma, punctate type iii ppkp3 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0545044 |
| 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 | 1736 |
|---|---|
| Disease | acrokeratoelastoidosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1736 |
|---|---|
| Disease | acrokeratoelastoidosis |
| 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200016 | Acrokeratosis | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| Disease ID | 1736 |
|---|---|
| Disease | acrokeratoelastoidosis |
| Case | (Waiting for update.) |