All terms in HP

Label Id Description
Presence of uterus in 46,XY individual HP_0034546 [A developmental anomaly in which an individual with an X chromosome and a Y chromosome (usually 46,XY) has a uterus. The uterus and Fallopian tubes are derived from the Müllerian duct and thus this phenotype is generally also associated with the presence of Fallopian tubes.]
Ameliorated by vitamin B12 HP_0034537 [Applies to a sign or symptom that is improved or made more bearable by treatment with vitamin B12.]
Ameliorated by thiamine HP_0034538 [Applies to a sign or symptom that is improved or made more bearable by treatment with thiamine.]
Ameliorated by dantrolene HP_0034539 [Applies to a sign or symptom that is improved or made more bearable by treatment with dantrolene.]
obsolete Occasional neurofibromas HP_0009595
Bent long bone HP_0034530 [A developmental defect of a long bone, such as the femur or the humerus, characterized by a sharply curve deviation located in the diaphysis (shaft) of the bone.]
Aplasia of the proximal phalanx of the 2nd finger HP_0009596 [Absence of the proximal phalanx of the 2nd finger.]
Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger HP_0009580
Tracheal rupture HP_0034531 [A break or tear in the trachea.]
Short proximal phalanx of the 2nd finger HP_0009597 [Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.]
Increased myocardial glycogen content HP_0034532 [Elevated amount of glycogen in the myocardium.]
Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal HP_0009598 [Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.]
Synostosis involving the 2nd metacarpal HP_0009705
Triggered by monoamine oxidase inhibitor HP_0034533 [Applies to a sign or symptom that is provoked or brought about by exposure to a monoamine oxidase inhibitor.]
Triggered by serotonin reuptake inhibitor HP_0034534 [Applies to a sign or symptom that is provoked or brought about by exposure to a serotonin reuptake inhibitor.]
Ameliorated by acetazolamide HP_0034535 [Applies to a sign or symptom that is improved or made more bearable by treatment with acetazolamide.]
cell death GO_0008219 [Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538).]
Ameliorated by pyridoxal phosphate HP_0034569 [Applies to a sign or symptom that is improved or made more bearable by ingestion of pyridoxal phosphate (activated vitamin B6).]
Malignant rhabdoid tumor of liver HP_0034561 [A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific.]
Abnormality of the proximal fibular epiphysis HP_0010594 [Any abnormality of the proximal epiphysis of the fibula.]