eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| arthrogryposis multiplex congenita | ||||
| Disease ID | 1226 |
|---|---|
| Disease | arthrogryposis multiplex congenita |
| Definition | Persistent flexure or contracture of a joint. |
| Synonym | amc - arthrogryposis multiplex congenita amyoplasia congen amyoplasia congenita arthrogryposes arthrogryposes, congenital multiple arthrogryposis arthrogryposis (& [multiplex congenita]) arthrogryposis (& [multiplex congenita]) (disorder) arthrogryposis (disorder) arthrogryposis [disease/finding] arthrogryposis multiplex arthrogryposis multiplex congenita (amc) arthrogryposis multiplex congenita (disorder) arthrogryposis multiplex congenita. arthrogryposis multiplex congenitas arthrogryposis multiplex congenitas (amc) arthrogryposis, congenital arthrogryposis, congenital multiple arthrogryposis, unspecified arthrogryposis, unspecified (disorder) arthromyodysplasia congen arthromyodysplasia, congenital arthromyodysplasias, congenital classic arthrogryposis congen arthromyodysplasia congenita, arthrogryposis multiplex congenita, arthrogryposis multiplex (amc) congenital arthromyodysplasia congenital arthromyodysplasias congenital contractures, multiple congenital multiple arthrogryposes congenital multiple arthrogryposis congenitas, arthrogryposis multiplex congenitas, arthrogryposis multiplex (amc) fibrous ankylosis of multiple joints guerin stern syndrome guerin-stern syndrome guerin-stern syndrome (disorder) guérin stern syndrome guérin-stern syndrome multiple arthrogryposes, congenital multiple arthrogryposis, congenital multiple congenital contracture multiple congenital contractures multiplex congenita, arthrogryposis multiplex congenita, arthrogryposis (amc) multiplex congenitas, arthrogryposis multiplex congenitas, arthrogryposis (amc) myodystrophia fetalis deformans myodystrophia foetalis deformans myophagism congenita otto syndrome rocher sheldon syndrome rocher-sheldon syndrome rossi syndrome syndrome otto syndrome, guerin-stern syndrome, guérin-stern syndrome, otto syndrome, rocher-sheldon syndrome, rossi |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0003886 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0036439 | scoliosis | 2 C0013720 | ehlers-danlos syndrome | 1 C0878544 | cardiomyopathy | 1 C0026896 | myasthenia gravis | 1 C0023264 | leigh syndrome | 1 C0152096 | trisomy 18 | 1 C0079924 | oligohydramnios | 1 C0038379 | strabismus | 1 C0008924 | cleft lip | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1226 |
|---|---|
| Disease | arthrogryposis multiplex 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: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:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | MP:0010728 | fusion of atlas and occipital bones | union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure |
| HP:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| 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:0002103 | Abnormality of the pleura | MP:0008151 | increased diameter of long bones | increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge |
| HP:0009465 | Ulnar deviation of finger | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0004295 | Abnormality of the gastric mucosa | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0003019 | Abnormality of the wrist | 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 |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| 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:0001883 | Talipes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003019 | Abnormality of the wrist | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001561 | Polyhydramnios | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0004295 | Abnormality of the gastric mucosa | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0009465 | Ulnar deviation of finger | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0002827 | Hip dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001004 | Lymphedema | 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:0002804 | Arthrogryposis multiplex congenita | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000457 | Depressed nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002103 | Abnormality of the pleura | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001543 | Gastroschisis | MP:0011206 | absent visceral yolk sac | absence of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo |
| Disease ID | 1226 |
|---|---|
| Disease | arthrogryposis multiplex congenita |
| Case | (Waiting for update.) |