All terms in HP

Label Id Description
Optic disc hypoplasia HP_0007766 [Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.]
Calcification of the auricular cartilage HP_0005103 [Ossification affecting the external ear cartilage.]
Focal aware tonic seizure HP_0032722 [A type of focal tonic seizure during which awareness is fully retained throughout.]
Hypoplastic nasal septum HP_0005104 [Underdevelopment of the nasal septum.]
Deep anterior chamber HP_0007765 [Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.]
High-frequency hearing impairment HP_0005101 [A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).]
Cochlear degeneration HP_0005102 [Deterioration or loss of the tissues of the cochlea.]
Retinal telangiectasia HP_0007763 [Localized, irregular dilatation of small tortuous intraretinal blood vessels.]
Premature birth following premature rupture of fetal membranes HP_0005100
Pericentral scotoma HP_0007761 [A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.]
Crystalline corneal dystrophy HP_0007760
Focal emotional seizure with pleasure HP_0032729 [Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.]
Increased CSF homocarnosine concentration HP_0500242 [Abnormally increased levels of homocarnosine in cerebrospinal fluid.]
Abnormal CSF homocarnosine concentration HP_0500241 [Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.]
Abnormal CSF ornithine concentration HP_0500243 [Any deviation from the normal concentration of ornithine in the cerebrospinal fluid.]
Increased CSF ornithine concentration HP_0500244 [Abnormally increased levels of ornithine in cerebrospinal fluid.]
Abnormal CSF citrulline concentration HP_0500245 [Any deviation from the normal concentration of citrulline in the cerebrospinal fluid.]
myeloid dendritic cell activation GO_0001773 [The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.]
myeloid cell activation involved in immune response GO_0002275 [A change in the morphology or behavior of a myeloid cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response.]
Abnormal CSF carnosine concentration HP_0500240 [Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.]