Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Transient unilateral blurring of vision	HP_0001125	[Transient blurring of vision associated with the aura phase of migraine.]
Type 1 and type 2 muscle fiber minicore regions	HP_0003787	[Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.]
Minicore myopathy	HP_0003789	[Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.]
Cryptophthalmos	HP_0001126	[Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.]
Trichiasis	HP_0001128	[Inversion and rubbing of the eyelashes against the globe of the eye.]
Type 1 collagen overmodification	HP_0003784
Abnormal bone collagen fibril morphology	HP_0011862	[Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.]
Externally rotated/abducted legs	HP_0003783
obsolete Aplasia/Hypoplasia of the choroid	HP_0001122
vascular endothelial growth factor receptor	PR_000001971	[A protein with core architecture consisting of a signal sequence, followed by 7 Ig-like domains (Pfam:PF00047, Pfam:PF07679, or Pfam:PF07686), a transmembrane region, and a cytoplasmic Protein tyrosine kinase domain.]
Decreased CSF homovanillic acid	HP_0003785	[Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.]
Eunuchoid habitus	HP_0003782	[A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).]
Decreased body weight	HP_0004325	[Abnormally low body weight.]
Large central visual field defect	HP_0001129
Retinal arteriolar tortuosity	HP_0001136	[The presence of an increased number of twists and turns of the retinal arterioles.]
Marked delay in bone age	HP_0003799
Nemaline bodies	HP_0003798	[Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.]
Muscle fiber cytoplasmatic inclusion bodies	HP_0100303	[The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.]
Alternating esotropia	HP_0001137	[Esotropia in which either eye may be used for fixation.]
Choroideremia	HP_0001139