Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Decreased CSF tyrosine concentration	HP_0500221	[Abnormally decreased levels of tyrosine in cerebrospinal fluid.]
Increased CSF tryptophan concentration	HP_0500222	[Abnormally increased levels of tryptophan in cerebrospinal fluid.]
Increased CSF phenylalanine concentration	HP_0500223	[Abnormally increased levels of phenylalanine in cerebrospinal fluid.]
Decreased CSF serine concentration	HP_0500228	[Abnormally decreased levels of serine in cerebrospinal fluid.]
Abnormal CSF serine concentration	HP_0500226	[Any deviation from the normal concentration of serine in the cerebrospinal fluid.]
Abnormal muscle fiber lamin A/C	HP_0030123	[A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.]
Abnormal CSF glycine concentration	HP_0500229	[Any deviation from the normal concentration of glycine in the cerebrospinal fluid.]
Abnormal CSF serine family amino acid concentration	HP_0500225	[Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.]
Reduced muscle fiber lamin A/C	HP_0030124	[A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue.]
Reduced muscle fiber calpain-3	HP_0030121	[Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.]
Abnormal muscle fiber calpain-3	HP_0030119	[A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.]
Reduced muscle fiber perlecan	HP_0030122	[Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).]
Decreased CSF phenylalanine concentration	HP_0500224	[Abnormally decreased levels of phenylalanine in cerebrospinal fluid.]
T cell differentiation involved in immune response	GO_0002292	[The process in which an antigenically naive T cell acquires the specialized features of an effector, regulatory, or memory T cell as part of an immune response. Effector T cells include cells which provide T cell help or exhibit cytotoxicity towards other cells.]
T cell activation involved in immune response	GO_0002286	[The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response.]
Absent muscle fiber calpain-3	HP_0030120	[Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.]
Increased CSF serine concentration	HP_0500227	[Abnormally increased levels of serine in cerebrospinal fluid.]
Reduced muscle fiber emerin	HP_0030118	[Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.]
Abnormal muscle fiber emerin	HP_0030116	[A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.]
Absent muscle fiber emerin	HP_0030117	[Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.]