eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| aplasia cutis congenita | ||||
| Disease ID | 1242 |
|---|---|
| Disease | aplasia cutis congenita |
| Definition | Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation. |
| Synonym | acc - aplasia cutis congenita aplasia congenita cutis aplasia cutis aplasia cutis congenita (disorder) aplasia cutis congenita, nonsyndromic aplasia cutis of scalp aplasia of skin aplasia of skin (disorder) congenita aplasia cuti congenital absence of skin cuti aplasia cutis aplasia cutis aplasia of scalp epitheliogenesis imperfecta |
| Orphanet | |
| OMIM | |
| UMLS | C0282160 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1242 |
|---|---|
| Disease | aplasia cutis congenita |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:9) HP:0007383 | Congenital localized absence of skin HP:0010301 | Spinal dysraphism HP:0003010 | Prolonged bleeding time HP:0001362 | Skull defect HP:0004471 | Aplasia cutis congenita over the scalp vertex HP:0010628 | Facial palsy HP:0200042 | Skin ulcer HP:0004471 | Absent cutis congenita of vertex HP:0004348 | Abnormality of bone mineral density |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0000078 | Genital abnormalities | 1 HP:0003764 | Naevus | 1 HP:0001362 | Cranial defect | 1 HP:0001596 | Hair loss | 1 HP:0010815 | Sebaceous naevus | 1 |
| Disease ID | 1242 |
|---|---|
| Disease | aplasia cutis congenita |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs587777706 | NA | 9790 | BMS1 | umls:C0282160 | CLINVAR | NA | 0.360271442 | NA | BMS1 | 10 | 42820527 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001362 | Skull defect | MP:0010418 | perimembraneous ventricular septal defect | abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated wi |
| HP:0003010 | Prolonged bleeding time | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0004348 | Abnormality of bone mineral density | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0007383 | Congenital localized absence of skin | MP:0009931 | abnormal skin appearance | anomaly in the visual aspect of the skin |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004348 | Abnormality of bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003010 | Prolonged bleeding time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001362 | Skull defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0010301 | Spinal dysraphism | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007383 | Congenital localized absence of skin | MP:0011160 | dermal-epidermal separation | the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis |
| HP:0004471 | Aplasia cutis congenita over the scalp vertex | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| Disease ID | 1242 |
|---|---|
| Disease | aplasia cutis congenita |
| Case | (Waiting for update.) |