| HPO |
HP:0001362 |
Calvarial skull defect |
"A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year." [HPO:probinson] |
— |
HP:0002648 |
| HPO |
HP:0001363 |
Craniosynostosis |
"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:probinson] |
Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth. |
HP:0002648, HP:0011329 |
| HPO |
HP:0001367 |
Abnormal joint morphology |
"An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join." [HPO:probinson] |
— |
HP:0011842 |
| HPO |
HP:0001369 |
Arthritis |
"Inflammation of a joint." [HPO:probinson] |
— |
HP:0001367 |
| HPO |
HP:0001370 |
Rheumatoid arthritis |
"Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures." [HPO:probinson] |
— |
HP:0001369 |
| HPO |
HP:0001371 |
Flexion contracture |
"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [HPO:probinson] |
— |
HP:0003549, HP:0011729, HP:0011805, HP:0100261 |
| HPO |
HP:0001373 |
Joint dislocation |
"Displacement or malalignment of joints." [HPO:curators] |
Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation. |
HP:0001367 |
| HPO |
HP:0001374 |
Congenital hip dislocation |
— |
— |
HP:0002827 |
| HPO |
HP:0001376 |
Limitation of joint mobility |
"A reduction in the freedom of movement of one or more joints." [HPO:probinson] |
— |
HP:0011729 |
| HPO |
HP:0001377 |
Limited elbow extension |
"Limited ability to straighten the arm at the elbow joint." [HPO:probinson] |
— |
HP:0002996 |
| HPO |
HP:0001379 |
obsolete Degenerative joint disease |
— |
— |
— |
| HPO |
HP:0001380 |
obsolete Ligamentous laxity |
— |
— |
— |
| HPO |
HP:0001382 |
Joint hypermobility |
"The ability of a joint to move beyond its normal range of motion." [HPO:probinson] |
— |
HP:0011729 |
| HPO |
HP:0001384 |
Abnormal hip joint morphology |
"An abnormality of the hip joint." [HPO:probinson] |
— |
HP:0003272, HP:0005262, HP:0100491 |
| HPO |
HP:0001385 |
Hip dysplasia |
"The presence of developmental dysplasia of the hip." [HPO:probinson] |
— |
HP:0003272 |
| HPO |
HP:0001386 |
Joint swelling |
— |
— |
HP:0000969, HP:0001367 |
| HPO |
HP:0001387 |
Joint stiffness |
"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:probinson] |
— |
HP:0001376 |
| HPO |
HP:0001388 |
Joint laxity |
"Lack of stability of a joint." [HPO:probinson] |
Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. |
HP:0011729 |
| HPO |
HP:0001392 |
Abnormality of the liver |
"An abnormality of the liver." [HPO:probinson] |
— |
HP:0002012 |
| HPO |
HP:0001394 |
Cirrhosis |
"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function." [HPO:probinson] |
Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. |
HP:0410042 |
| HPO |
HP:0001395 |
Hepatic fibrosis |
"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process." [HPO:probinson] |
— |
HP:0410042 |
| HPO |
HP:0001396 |
Cholestasis |
"Impairment of bile flow due to obstruction in bile ducts." [HPO:probinson] |
— |
HP:0004297 |
| HPO |
HP:0001397 |
Hepatic steatosis |
"Steatosis is a term used to denote lipid accumulation within hepatocytes." [HPO:probinson, PMID:31603713] |
Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes. |
HP:0006561 |
| HPO |
HP:0001399 |
Hepatic failure |
— |
— |
HP:0001410 |
| HPO |
HP:0001400 |
obsolete Hepatic abscesses due to immunodeficiency |
— |
— |
— |