All terms in HP

Label Id Description
Decreased circulating alpha-mannosidase activity HP_0034712 [Concentration or activity of alpha mannosidase below the lower limit of normal in the blood circulation.]
Abnormal circulating alpha mannosidase activity HP_4000201 [Concentration or activity of alpha mannosidase outside of the limits of normal in the blood circulation.]
Abnormal hepatocyte morphology HP_0034713 [A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue.]
Hepatic melanin-like lysosomal pigmentation HP_0034714 [Accumulation of dark, coarsely granular pigment localized in lysosomes of centrilobular hepatocytes.]
Temporal cortical atrophy HP_0007112 [Atrophy of the temporal cortex.]
Reduced uroporphyrinogen decarboxylase activity HP_0034715 [Activity of the enzyme uroporphyrinogen decarboxylase (UROD; EC 4.1.1.37) below the lower limit of normal.]
Chronic hepatic encephalopathy HP_0007111
Reduced heme oxygenase activity HP_0034716 [Activity of the enzyme heme oxygenase below the lower limit of normal.]
Central hypoventilation HP_0007110
Swollen achromatic neurons in the cerebral cortex HP_0034717 [The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain.]
Vacuolated hepatocytes HP_0034718 [Presence of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in hepatocytes, which normally rarely contain vacuoles.]
Pilonidal sinus HP_0010769 [A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.]
Iliac horns HP_0009780 [Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.]
Irregular iliac crest HP_0003796 [Irregularity of the iliac crest, which is the superior border of the wing of the ilium.]
Lack of oocyte pronucleus formation HP_0034719 [An abnormality of oocyte maturation characterized by the inability of oocytes to form pronuclei after in vitro fertilization procedures. Oocytes normally show two pronuclei 17 to 20 hours after in vitro insemination.]
Abnormal female meiosis HP_0033338 [Anomalous oocyte meiosis]
Aplasia/Hypoplasia of toe HP_0001991 [Absence or hypoplasia of toes.]
Patchy sclerosis of hand bones HP_0004286
Low insertion of columella HP_0010763 [Insertion of the posterior columella below the nasal base.]
Abnormal placental membrane morphology HP_0011409 [Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.]