PedAM
Pediatric Disease Annotations & Medicines
| poland syndrome | ||||
| Disease ID | 558 |
|---|---|
| Disease | poland syndrome |
| Definition | A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major. |
| Synonym | anomaly polands anomaly, poland poland anomalad poland anomaly poland anomaly (disorder) poland sequence poland syndactyly poland syndrome (disorder) poland syndrome [disease/finding] poland's anomaly poland's syndrome polands syndrome syndactyly, poland syndrome polands syndrome, poland unilateral defect of pectoralis muscle and syndactyly of hand |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0032357 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0020538 | hypertension | 1 C0027962 | melanocytic nevi | 1 C0031039 | pericardial effusion | 1 C0023798 | lipoma | 1 C0002892 | pernicious anemia | 1 C0002871 | anemia | 1 C0020542 | pulmonary hypertension | 1 C0023418 | leukemia | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 3199 | HOXA2 | DISEASES 5657 | PRTN3 | DISEASES 5920 | RARRES3 | DISEASES 54979 | HRASLS2 | DISEASES 4851 | NOTCH1 | DISEASES 117245 | HRASLS5 | DISEASES 140738 | TMEM37 | DISEASES 11145 | PLA2G16 | DISEASES 4763 | NF1 | DISEASES 157680 | VPS13B | DISEASES 5980 | REV3L | DISEASES 257 | ALX3 | DISEASES 729238 | SFTPA2 | DISEASES 129685 | TAF8 | DISEASES 4038 | LRP4 | DISEASES 5080 | PAX6 | DISEASES 3098 | HK1 | DISEASES 1123 | CHN1 | DISEASES 653509 | SFTPA1 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 558 |
|---|---|
| Disease | poland syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:34) HP:0000470 | Short neck HP:0006709 | Aplasia/Hypoplasia of the nipples HP:0009594 | Retinal hamartoma HP:0004050 | Absent hand HP:0007477 | Abnormal dermatoglyphics HP:0006101 | Finger syndactyly HP:0000766 | Abnormality of the sternum HP:0001155 | Abnormality of the hand HP:0001171 | Split hand HP:0007519 | Lack of subcutaneous fatty tissue HP:0002937 | Hemivertebrae HP:0008678 | Renal hypoplasia/aplasia HP:0003063 | Abnormality of the humerus HP:0006714 | Aplasia/Hypoplasia of the sternum HP:0002997 | Abnormality of the ulna HP:0006008 | Unilateral brachydactyly HP:0001392 | Abnormality of the liver HP:0002162 | Low posterior hairline HP:0009601 | Aplasia/Hypoplasia of the thumb HP:0010311 | Aplasia/Hypoplasia of the breasts HP:0000776 | Congenital diaphragmatic hernia HP:0009700 | Finger symphalangism HP:0001651 | Dextrocardia HP:0002650 | Scoliosis HP:0000773 | Short ribs HP:0004349 | Reduced bone mineral density HP:0001555 | Asymmetry of the thorax HP:0000252 | Microcephaly HP:0000772 | Abnormality of the ribs HP:0002488 | Acute leukemia HP:0002814 | Abnormality of the lower limb HP:0200055 | Small hand HP:0010579 | Cone-shaped epiphysis HP:0100013 | Neoplasm of the breast |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0001651 | Thoracic situs inversus | 9 HP:0001698 | Pericardial effusions | 1 HP:0012032 | Lipoma | 1 HP:0000822 | Hypertension | 1 HP:0001903 | Anemia | 1 HP:0002108 | Spontaneous pneumothorax | 1 HP:0001909 | Leukemia | 1 HP:0001155 | Hand anomalies | 1 HP:0002092 | Pulmonary artery hypertension | 1 HP:0000995 | Beauty mark | 1 |
| Disease ID | 558 |
|---|---|
| Disease | poland syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |