All terms in HP

Label Id Description
Keratoglobus HP_0001119 [Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.]
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.]
obsolete Externally rotated/abducted legs HP_0003783
obsolete Aplasia/Hypoplasia of the choroid HP_0001122
vascular endothelial growth factor receptor 2 PR_000002112 [A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof.]
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 concentration 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.]
Alternating esotropia HP_0001137 [Esotropia in which either eye may be used for fixation.]