eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pulmonary arteriovenous fistulas | ||||
| Disease ID | 1406 |
|---|---|
| Disease | pulmonary arteriovenous fistulas |
| Definition | A congenital or acquired malformation characterized by abnormal communication between the pulmonary arteries and pulmonary veins in the lungs. |
| Synonym | arterioven fistu pul ves arteriovenous fistula of pulmonary vessels arteriovenous fistula of pulmonary vessels (disorder) arteriovenous fistulas pulmonary fistula, arteriovenous, pulmonary pulmonary arterio-venous fistula pulmonary arteriovenous fistula pulmonary arteriovenous malformation pulmonary av fistula |
| Orphanet | |
| OMIM | |
| ICD10 | |
| UMLS | C0155675 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:20) C0039445 | hereditary hemorrhagic telangiectasia | 18 C0039446 | telangiectasia | 6 C0039445 | hereditary haemorrhagic telangiectasia | 5 C0039445 | rendu-osler-weber disease | 2 C0015624 | fanconi syndrome | 1 C0149931 | migraine | 1 C0242647 | mucosa-associated lymphoid tissue | 1 C0242647 | mucosa-associated lymphoid tissue lymphoma | 1 C0039445 | osler-weber-rendu syndrome | 1 C0175703 | tar syndrome | 1 C0016522 | patent foramen ovale | 1 C0152021 | congenital heart disease | 1 C0265965 | dyskeratosis congenita | 1 C0549471 | superior sulcus tumor | 1 C0024299 | lymphoma | 1 C0023267 | leiomyoma | 1 C0016522 | secundum atrial septal defect | 1 C0039445 | rendu-osler-weber syndrome | 1 C0018799 | heart disease | 1 C0007787 | transient ischemic attack | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1406 |
|---|---|
| Disease | pulmonary arteriovenous fistulas |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100759 | Clubbing of fingers | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0100760 | Clubbing of toes | MP:0001841 | decreased level of surface class I molecules | reduced expression of major histocompatibility complex class I molecules at the cell surface |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000961 | Cyanosis | 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:0100759 | Clubbing of fingers | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100760 | Clubbing of toes | MP:0012009 | early parturition | the process of labor and delivery in female animals occurs earlier in gestation than expected |
| Disease ID | 1406 |
|---|---|
| Disease | pulmonary arteriovenous fistulas |
| Case | (Waiting for update.) |