Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Abnormal CSF lysine concentration	HP_0500206	[Any deviation from the normal concentration of lysine in the cerebrospinal fluid.]
Abnormal CSF aspartate family amino acid concentration	HP_0500205	[Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.]
Absent muscle fiber alpha sarcoglycan	HP_0030101	[Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.]
Abnormal muscle fiber alpha sarcoglycan	HP_0030100	[Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.]
Decreased CSF lysine concentration	HP_0500207	[Abnormally decreased levels of lysine in cerebrospinal fluid.]
Reduced muscle fiber alpha sarcoglycan	HP_0030102	[A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.]
Increased CSF lysine concentration	HP_0500208	[Abnormally increased levels of lysine in cerebrospinal fluid.]
Abnormal CSF methionine concentration	HP_0500209	[Any deviation from the normal concentration of methionine in the cerebrospinal fluid.]
Abnormal CSF arginine concentration	HP_0500202	[Any deviation from the normal concentration of arginine in the cerebrospinal fluid.]
Abnormal CSF glutamine family amino acid concentration	HP_0500195	[Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.]
Increased CSF arginine concentration	HP_0500203	[Abnormally increased levels of arginine in cerebrospinal fluid.]
Decreased CSF arginine concentration	HP_0500204	[Abnormally decreased levels of arginine in cerebrospinal fluid.]
Abnormal CSF amino acid concentration	HP_0500184	[Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.]
cyclic organic group	CHEBI_52845	[An organic group that consists of a closed ring. It may be a substituent or a skeleton.]
5'-nucleotidase (human)	PR_P21589	[A 5'-nucleotidase that is encoded in the genome of human.]
NT5E (human)	gene_symbol_report	[A protein coding gene NT5E in human.]
Hypoplastic left atrium	HP_0005156	[Underdeveloped, small left heart atrium]
Abnormal left atrium morphology	HP_0025579	[Any structural abnormality of the left atrium.]
Hypoplastic left heart	HP_0004383	[Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.]
Concentric hypertrophic cardiomyopathy	HP_0005157	[Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.]