eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| poland syndrome | ||||
| Disease ID | 692 |
|---|---|
| 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:13) C0678222 | carcinoma of breast | 1 C0020538 | hypertension | 1 C0023798 | lipoma | 1 C0002871 | anemia | 1 C0080178 | spina bifida | 1 C0002892 | pernicious anemia | 1 C0020542 | pulmonary hypertension | 1 C1134719 | invasive ductal carcinoma | 1 C0027962 | melanocytic nevi | 1 C0011570 | depression | 1 C0031039 | pericardial effusion | 1 C0041408 | turner's syndrome | 1 C0006142 | breast cancer | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 257 | ALX3 | 4.666 | DISEASES 1123 | CHN1 | 2.929 | DISEASES 3098 | HK1 | 3.165 | DISEASES 4038 | LRP4 | 3.582 | DISEASES 4763 | NF1 | 1.302 | DISEASES 5080 | PAX6 | 2.218 | DISEASES 11145 | PLA2G16 | 3.467 | DISEASES 5980 | REV3L | 3.84 | DISEASES 653509 | SFTPA1 | 3.44 | DISEASES 729238 | SFTPA2 | 3.233 | DISEASES 129685 | TAF8 | 3.959 | DISEASES 157680 | VPS13B | 3.144 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 692 |
|---|---|
| Disease | poland syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:34) HP:0000470 | Short neck HP:0001155 | Abnormality of the hand HP:0001651 | Dextrocardia HP:0009594 | Retinal hamartoma HP:0007477 | Abnormal dermatoglyphics HP:0000766 | Abnormality of the sternum HP:0002937 | Hemivertebrae HP:0007519 | Lack of subcutaneous fatty tissue HP:0000773 | Short ribs HP:0001171 | Split hand HP:0008678 | Renal hypoplasia/aplasia HP:0006008 | Unilateral brachydactyly HP:0006101 | Finger syndactyly HP:0003063 | Abnormality of the humerus HP:0100013 | Neoplasm of the breast HP:0006709 | Aplasia/Hypoplasia of the nipples HP:0001555 | Asymmetry of the thorax HP:0000772 | Abnormality of the ribs HP:0002650 | Scoliosis HP:0000252 | Microcephaly HP:0002814 | Abnormality of the lower limb HP:0001392 | Abnormality of the liver HP:0010311 | Aplasia/Hypoplasia of the breasts HP:0200055 | Small hand HP:0004050 | Absent hand HP:0002162 | Low posterior hairline HP:0006714 | Aplasia/Hypoplasia of the sternum HP:0009601 | Aplasia/Hypoplasia of the thumb HP:0009700 | Finger symphalangism HP:0002488 | Acute leukemia HP:0010579 | Cone-shaped epiphysis HP:0004349 | Reduced bone mineral density HP:0002997 | Abnormality of the ulna HP:0000776 | Congenital diaphragmatic hernia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0001651 | Thoracic situs inversus | 9 HP:0002414 | Spina bifida | 1 HP:0003974 | Absent ossification/absence of radius | 1 HP:0001155 | Hand anomalies | 1 HP:0012032 | Lipoma | 1 HP:0000822 | Hypertension | 1 HP:0001698 | Pericardial effusions | 1 HP:0000716 | Depression | 1 HP:0030731 | Carcinoma | 1 HP:0002092 | Pulmonary artery hypertension | 1 HP:0003002 | Breast carcinoma | 1 HP:0001903 | Anemia | 1 HP:0000995 | Beauty mark | 1 HP:0002108 | Spontaneous pneumothorax | 1 |
| Disease ID | 692 |
|---|---|
| Disease | poland syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total 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) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010311 | Aplasia/Hypoplasia of the breasts | MP:0006271 | abnormal involution of the mammary gland | anomaly in the process during which mammary glands suspend milk protein production, the mammary alveolar structures collapse and secretory epithelial cells are lost |
| HP:0002997 | Abnormality of the ulna | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0002488 | Acute leukemia | MP:0005481 | increased chronic myelocytic leukemia incidence | higher than normal incidence of a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0001155 | Abnormality of the hand | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| HP:0100013 | Neoplasm of the breast | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000772 | Abnormality of the ribs | 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:0001392 | Abnormality of the liver | 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:0006714 | Aplasia/Hypoplasia of the sternum | MP:0000157 | abnormal sternum morphology | any structural anomaly of the long flat bone of the chest that articulates with clavicle and first seven rib pairs; from rostral to caudal positions, the sternum consists of three parts: manubrium, body, and xiphoid process |
| HP:0001555 | Asymmetry of the thorax | 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:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0000773 | Short ribs | MP:0004672 | short ribs | reduced length of the bones forming the bony wall of the chest |
| HP:0002814 | Abnormality of the lower limb | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000766 | Abnormality of the sternum | 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:0007519 | Lack of subcutaneous fatty tissue | MP:0004501 | increased incidence of tumors by UV-induction | higher than normal frequency of tumor incidence induced by exposure to ultraviolet light |
| HP:0003063 | Abnormality of the humerus | 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:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0009700 | Synostosis involving bones of the fingers | MP:0008915 | fused carpal bones | anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together |
Mapped by homologous gene(Total Items:33) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0007519 | Lack of subcutaneous fatty tissue | MP:0012734 | abnormal response to radiation | any anomaly in the physiological changes induced by ionizing radiation such as UV light, X-rays, or gamma rays |
| HP:0200055 | Small hand | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002162 | Low posterior hairline | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006714 | Aplasia/Hypoplasia of the sternum | MP:0011961 | abnormal cornea thickness | increased or decreased width of the cornea in the center plane |
| HP:0004050 | Absent hand | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0009700 | Synostosis involving bones of the fingers | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0010311 | Aplasia/Hypoplasia of the breasts | MP:0009937 | abnormal neuron differentiation | abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses |
| HP:0001651 | Dextrocardia | MP:0012739 | abnormal anterior primitive streak morphology | any structural anomaly of the anterior region of the vertebrate primitive streak which gives rise to the axial and paraxial mesoderm, the definitive endoderm, the primitive groove, and the primitive node |
| HP:0007477 | Abnormal dermatoglyphics | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000772 | Abnormality of the ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002488 | Acute leukemia | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0010579 | Cone-shaped epiphysis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0003063 | Abnormality of the humerus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001555 | Asymmetry of the thorax | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002997 | Abnormality of the ulna | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0002937 | Hemivertebrae | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000766 | Abnormality of the sternum | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001171 | Split hand | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001155 | Abnormality of the hand | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001392 | Abnormality of the liver | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0008678 | Renal hypoplasia/aplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009594 | Retinal hamartoma | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000773 | Short ribs | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002814 | Abnormality of the lower limb | MP:0013616 | decreased volumetric bone mineral density | reduction in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usual |
| HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0100013 | Neoplasm of the breast | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| Disease ID | 692 |
|---|---|
| Disease | poland syndrome |
| Case | (Waiting for update.) |