All terms in HP

Label Id Description
Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts HP_6000081 [Activity of alpha-aminoadipic semialdehyde synthase below the lower limit of normal in cultured fibroblasts.]
Sunken fontanelle HP_6000084 [Fontanelle that is more deeply set than normal. Fontanelles are normally relatively firm and curve only slightly inward. A sunken fontanelle can be a sign of dehydration or marasmus.]
Reduced hepatic dihydropyrimidinase activity HP_6000083 [Activity of dihydropyrimidinase in the liver below the lower limit of normal.]
History of urethral procedure or catheterization HP_6000086 [A past medical history of a procedure or catheterization involving the urethra.]
Reduced muscle alpha-1,4-glucosidase activity HP_6000088 [Activity of the enzyme alpha-1,4-glucosidase activity in muscle tissue is below the lower limit of normal.]
Abnormal enzyme activity in muscle tissue HP_0034526 [Deviation from the normal activity of an enzyme in muscle tissue.]
Penile swelling HP_6000087 [Abormal enlargement of the penis owing to accumulation of fluid.]
Metachromatic intraneuronal lipid deposits HP_6000079 [A type of metachromasia localized to a peripheral nerve. Metachromasia may be defined as the staining of tissue or tissue components such that the color of the tissue-bound dye complex differs significantly from the color of the original dye complex to give a marked contrast in color. For instance in metachromatic leukodystrophy, bloated Schwann cells, containing granularmetachromatic storage material May display a characteristic yellow green dichroism under crossed polarised light.]
Nasal hamartoma HP_6000078 [A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the nose.]
positive regulation of apoptotic process involved in development GO_1904747 [Any process that activates or increases the frequency, rate or extent of apoptotic process involved in development.]
regulation of apoptotic process involved in development GO_1904748 [Any process that modulates the frequency, rate or extent of apoptotic process involved in development.]
positive regulation of apoptotic process GO_0043065 [Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.]
negative regulation of apoptotic process involved in development GO_1904746 [Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in development.]
negative regulation of apoptotic process GO_0043066 [Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.]
regulation of apoptotic process GO_0042981 [Any process that modulates the occurrence or rate of cell death by apoptotic process.]
Heterotopic dermal ossification HP_6000071 [Formation of abnormal, extraskeletal bony tissue in the dermis (i.e., the layer of skin that lies beneath the epidermis and above the subcutaneous layer).]
Cutaneous granuloma HP_6000070 [A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material.]
Granuloma HP_0032252 [A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.]
Renal lymphangiectasia HP_6000073 [A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space.]
Thinning of outer muscular layer of small bowel HP_6000072 [The depth of the outer muscular layer of the small bowel is below the lower limit of normal.]