All terms in HP

Label Id Description
Incomitant strabismus HP_0025068 [Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.]
Double depressor palsy HP_0020042 [An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.]
Vertical incomitant strabismus HP_0020043 [A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards.]
Horizontal incomitant strabismus HP_0020044
Accommodative esotropia HP_0020046 [A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.]
Floppy eyelid HP_0032029 [Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis.]
Eyelid laxity HP_0031880 [Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.]
Abnormal myeloid cell morphology HP_0020047 [Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.]
Reduced bone-marrow pro-B cell count HP_0020048 [A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.]
Macular dots HP_0032028 [Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.]
Yellow/white macular lesion HP_0030500 [A type of white and/or yellow lesion located anywhere within the macula. These lesions can be flat or raised and can vary in size from very small to bigger.]
Profound static encephalopathy HP_0007069
Nonprogressive encephalopathy HP_0007030
Inferior cerebellar vermis hypoplasia HP_0007068 [Underdevelopment of the inferior portion of the vermis of cerebellum.]
Cerebellar vermis hypoplasia HP_0001320 [Underdevelopment of the vermis of cerebellum.]
Distal peripheral sensory neuropathy HP_0007067 [Peripheral sensory neuropathy affecting primarily distal sensation.]
Proximal limb muscle stiffness HP_0007066 [Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle.]
Muscle stiffness HP_0003552 [A condition in which muscles cannot be moved quickly without accompanying pain or spasm.]
Disorganization of the anterior cerebellar vermis HP_0007065
Abnormal anteroposterior retina thickness on OCT HP_0020040 [Anteroposterior thickness of the retina outside the limits of normal. This phenotype can be appreciated by retinal optical coherence tomography (OCT).]