All terms in HP

Label Id Description
Multifocal cerebral white matter abnormalities HP_0007052
Elevated urine 2-methylacetoacetic acid level HP_0034660 [Amount of 2-methylacetoacetic acid in the urine above upper limit of normal.]
Monocarboxylic aciduria HP_0034653 [Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group.]
Lamellar pulverulent cataract HP_0010694 [A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance.]
Lamellar cataract HP_0007971 [A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens.]
Elevated urine 3-hydroxypropionic acid level HP_0034661 [Amount of 3-hydroxypropionic acid in the urine above the upper limit of normal.]
Mirror image foot polydactyly HP_0010691 [Mirror image duplication of digits affecting the feet.]
Mirror image polydactyly HP_0010689 [A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes.]
Elevated urine 2-methylcitric acid level HP_0034662 [Amount of 2-methylcitric acid in the urine above the upper limit of normal.]
obsolete 2-5 finger syndactyly HP_0010692
Elevated urine 4-hydroxyisovaleric acid level HP_0034663 [Amount of 4-hydroxyisovaleric acid in urine above upper limit of normal.]
Anterior pyramidal cataract HP_0010697 [A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.]
Anterior polar cataract HP_0001134 [A polar cataract that affects the anterior pole of the lens.]
Elevated urine 2-hydroxy-3-methylvaleric acid level HP_0034664 [Amount of 2-hydroxy-3-methylvaleric acid in the urine above the upper limit of normal. 2-Hydroxy-3-methylpentanoic acid or 2-hydroxy-3-methylvaleric acid (HMVA) is an organic acid generated by L-isoleucine metabolism.]
Nuclear pulverulent cataract HP_0010698 [A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.]
Nuclear punctate cataract HP_0010925
Shoulder contracture HP_0034665 [Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.]
Abnormal shoulder morphology HP_0003043 [An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.]
Sutural cataract HP_0010695 [A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.]
Zonular cataract HP_0010920 [Zonular cataracts are defined to be cataracts that affect specific regions of the lens.]