All terms in HP

Label Id Description
Motor impersistence HP_0040200 [The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.]
Aplasia/Hypoplasia of the vagina HP_0011026 [Aplasia or developmental hypoplasia of the vagina.]
Anti-topoisomerase I antibody positivity HP_0030859 [The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.]
Decreased CSF neopterin level HP_0040205 [Decreased concentration of neopterin in the cerebrospinal fluid (CSF).]
Abnormal CSF neopterin concentration HP_0040203 [Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).]
Abnormal circulating neopterin concentration HP_0040206 [Any deviation from the normal concentration of neopterin in the blood circulation.]
Abnormal CSF pterin concentration HP_0040207 [Abnormal concentration of a pterin in the cerebrospinal fluid (CSF).]
Elevated CSF biopterin level HP_0040208 [Concentration of biopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.]
Simultanapraxia HP_0040201 [A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.]
Elevated CSF neopterin level HP_0040204 [Increased concentration of neopterin in the cerebrospinal fluid (CSF).]
Decreased CSF biopterin level HP_0040209 [Concentration of biopterin in the cerebrospinal fluid (CSF) below the lower limit of normal.]
phenol-containing compound metabolic process GO_0018958 [The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring.]
C3 nephritic factor positivity HP_0030888 [The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).]
Congenital shortened small intestine HP_0030889 [Substantially shortened length of the small intestine as a result of a developmental defect.]
Reduced orotidine 5-prime phosphate decarboxylase level HP_0003267 [An abnormal decrease in orotidine 5'-phosphate decarboxylase level.]
Increased T cell apoptosis HP_0030887 [Abnormal increase of apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories.]
Gastrojejunal tube feeding in infancy HP_0030884 [Feeding problem necessitating gastrojejunal tube feeding.]
Feeding difficulties in infancy HP_0008872 [Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.]
Sudanophilic leukodystrophy HP_0003269
limbal epithelial stem cell of cornea CL_4033093 [A stem cell that is part of the corneo-scleral limbus. This cell type resides at the basal layer of the epithelium and has a small size and high nuclear to cytoplasmatic ratio (Secker and Daniels, 2009). A limbal stem cell is responsible for corneal epithelial renewal and repair (Li et al., 2023), and to help maintain a clear corneal surface by preventing conjunctival epithelial cells from migrating onto the cornea (Wang et al., 2023).]