eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| idiopathic pulmonary hemosiderosis | ||||
| Disease ID | 991 |
|---|---|
| Disease | idiopathic pulmonary hemosiderosis |
| Synonym | brown induration of lung essential brown induration of lung hemosiderosis pulmonary hemosiderosis, pulmonary, idiopathic hemosiderosis, pulmonary, with deficiency of gamma-a globulin idio pulm hemosiderosis idiopathic pulmonary haemosiderosis idiopathic pulmonary haemosiderosis (disorder) idiopathic pulmonary hemosiderosis (disorder) iph - idiopathic pulmonary haemosiderosis iph - idiopathic pulmonary hemosiderosis lung, essential brown induration pulmonary haemosiderosis pulmonary hemosiderosis |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0020807 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0007570 | celiac disease | 7 C0155877 | allergic asthma | 1 C0007570 | coeliac disease | 1 C0162316 | iron-deficiency anemia | 1 C0035229 | respiratory insufficiency | 1 C0002871 | anemia | 1 C0035439 | rheumatic heart disease | 1 C0004096 | asthma | 1 C0006287 | bronchopulmonary dysplasia | 1 C0024115 | lung disease | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:9) |
| Locus | (Waiting for update.) |
| Disease ID | 991 |
|---|---|
| Disease | idiopathic pulmonary hemosiderosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0001891 | Iron-deficiency anemia HP:0002206 | Pulmonary fibrosis HP:0002093 | progressive respiratory failure HP:0006535 | Recurrent intrapulmonary hemorrhage HP:0002086 | Respiratory abnormality HP:0002105 | Hemoptysis HP:0005828 | Transient pulmonary infiltrates HP:0002720 | Decreased immunoglobulin A |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0002608 | Celiac disease | 7 HP:0005681 | Juvenile idiopathic arthritis | 1 HP:0001903 | Anemia | 1 HP:0001369 | Arthritis | 1 HP:0001891 | Iron-deficiency anemia | 1 HP:0002099 | Asthma | 1 HP:0002093 | progressive respiratory failure | 1 |
| Disease ID | 991 |
|---|---|
| Disease | idiopathic pulmonary hemosiderosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:13) C1963220 | pulmonary hypertension C1000483 | anemia C0865681 | chronic myocarditis C0340170 | progressive massive fibrosis C0271901 | microcytic hypochromic anemia C0264915 | complete left bundle branch block C0029442 | osteomalacia C0027697 | nephritis C0019270 | hernia C0019080 | hemorrhage C0019079 | hemoptysis C0018801 | heart failure C0007570 | celiac disease |
| 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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002206 | Pulmonary fibrosis | MP:0009419 | skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| HP:0002086 | Abnormality of the respiratory system | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0002720 | IgA deficiency | MP:0002495 | increased IgA level | greater than normal immunoglobulin class A level |
| HP:0001891 | Iron deficiency anemia | MP:0002810 | microcytic anemia | a reduction in the mean total mass of erythrocytes in which the remaining circulating erythrocyte corpuscular volume is smaller than normal; most commonly due to iron deficiency but also sickle cell disease and other conditions that result in hemoglobin s |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001891 | Iron deficiency anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002720 | IgA deficiency | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002206 | Pulmonary fibrosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0002105 | Hemoptysis | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0002086 | Abnormality of the respiratory system | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| Disease ID | 991 |
|---|---|
| Disease | idiopathic pulmonary hemosiderosis |
| Case | (Waiting for update.) |