Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Abnormal circulating amino sulfonic acid concentration	HP_0500180
Iris hypopigmentation	HP_0007730	[An abnormal reduction in the amount of pigmentation of the iris.]
Hypertaurinemia	HP_0500181	[An increased amount of taurine in the blood.]
Hypotaurinemia	HP_0500182	[A decreased amount of taurine in the blood.]
integrin beta	PR_000001861	[A protein with core architecture consisting of a large extracellular region containing one Integrin, beta chain domain (Pfam:PF00362), up to four EGF-like domains (Pfam:PF07974), and an Integrin beta tail domain (Pfam:PF07965), followed by a single-pass transmembrane region and a small cytoplasmic region often containing an Integrin beta cytoplasmic domain (Pfam:PF08725).]
Reflex asystolic syncope	HP_0500173	[A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.]
hemopoietic organ	UBERON_0004177	[Organ that is part of the hematopoietic system.]
obsolete Irido-fundal coloboma	HP_0007748
Monocular horizontal nystagmus	HP_0007747
obsolete Iridoretinal coloboma	HP_0007744
Decreased CSF leucine concentration	HP_0500190	[Abnormally decreased levels of leucine in the cerebrospinal fluid.]
Abnormal CSF leucine concentration	HP_0500189	[Any deviation from the normal concentration of leucine in the cerebrospinal fluid.]
Increased CSF leucine concentration	HP_0500191	[Abnormally increased levels of leucine in cerebrospinal fluid.]
Abnormal CSF isoleucine concentration	HP_0500192	[Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.]
Abnormal CSF branched chain amino acid concentration	HP_0500185	[Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.]
Long eyelashes in irregular rows	HP_0007740
Increased CSF isoleucine concentration	HP_0500193	[Abnormally increased levels of isoleucine in cerebrospinal fluid.]
aorta smooth muscle tissue	UBERON_0004178	[the nonstriated, involuntary muscle tissue located in the wall of the aorta]
Abnormal CSF valine concentration	HP_0500186	[Any deviation from the normal concentration of valine in the cerebrospinal fluid.]
endodermal part of digestive tract	UBERON_0004185	[A portions of the gut that is derived from endoderm.]