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Abnormal metacarpal ossification
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HP_6000651 |
[Any abnormal process of ossification of the metacarpal bones, which normally are each ossified from two centers: one for the body, and one for the head (metacarpal II,III,IV, and V) and one for the body and one for the base (metacarpal I). At the eighth to ninth week of fetal life, ossification commences in the middle of the body. At the third year the distal extremities of the metacarpals of the fingers and the base of the metacarpal of the thumb begin to ossify; they unite with the bodies at about the twentieth year.] |
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Perioral hyperkeratosis
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HP_0033707 |
[Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.] |
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Distal tibiofibular synostosis
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HP_6000650 |
[Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula.] |
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Progressive massive fibrosis
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HP_0033706 |
[This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis.] |
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hindbrain-spinal cord boundary
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UBERON_0005076 |
[An anatomical boundary that adjacent_to a hindbrain and adjacent_to a spinal cord.] |
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Crescent-shaped iliac bone
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HP_6000653 |
[Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone.] |
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Tapered metacarpals
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HP_0006108 |
[Metacarpal that becomes thinner toward the distal end.] |
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Tearfulness
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HP_0033705 |
[A feeling of sadness characterized by episodes of crying that can occur suddenly and are not easily controlled in social situations.] |
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Rib spur
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HP_6000652 |
[A bony projection (spur, osteophyte) originating from a rib.] |
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Elevated urinary homogentisic acid
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HP_0033704 |
[An increased amount of homogentisic acid in the urine.] |
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Femoral neck fracture
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HP_6000655 |
[A partial or complete breakage of the neck of femur.] |
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Femur fracture
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HP_0031846 |
[A break or crush injury of the thigh bone (femur).] |
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Absent trapezoid bone
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HP_0006106 |
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Dysembryoplastic neuroepithelial tumor
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HP_0033703 |
[Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found] |
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forebrain-midbrain boundary
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UBERON_0005075 |
[An anatomical boundary that adjacent_to a forebrain and adjacent_to a midbrain.] |
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Abnormal ischium ossification
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HP_6000654 |
[An abnormality of the formation and mineralization of ischial bones.] |
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Fingerpad telangiectases
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HP_0006107 |
[Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.] |
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Subpleural curvilinear line
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HP_0033702 |
[This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present).] |
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Pancreatic intraductal papillary mucinous neoplasm
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HP_6000657 |
[Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections.] |
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Self-mutilation of tongue and lips due to involuntary movements
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HP_0008767 |
[Uncontrolled movements result in tissue damage to the tongue and lips.] |