All terms in HP

Label Id Description
Loss of Purkinje cells in the cerebellar vermis HP_0007001
Lymph node xanthomatosis HP_0034628 [Lipid deposits localized within one or more lymph nodes. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.]
Morning myoclonic jerks HP_0007000
Xanthoma of bone HP_0034629 [Xanthoma of bone is an exceedingly rare benign primary bone tumor histologically characterized by mononuclear macrophage-like cells, abundant foam cells, and multinucleated giant cells.]
Patchy variation in bone mineral density HP_0010659 [Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.]
Ivory epiphysis of the proximal phalanx of the thumb HP_0009670 [Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.]
Abnormality of the epiphysis of the proximal phalanx of the thumb HP_0009663 [This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.]
Ivory epiphysis of the thumb HP_0009692 [Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.]
Short thumb HP_0009778 [Hypoplasia (congenital reduction in size) of the thumb.]
Hypoplasia of the premaxilla HP_0010650 [An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.]
Aplasia/Hypoplasia of the premaxilla HP_0010756 [Absence or underdevelopment of the premaxilla.]
Abnormality of the epiphysis of the distal phalanx of the thumb HP_0009662 [Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.]
Abnormality of thumb epiphysis HP_0009599 [Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.]
Abnormality of the falx cerebri HP_0010653 [An abnormality of the Falx cerebri.]
Abnormal dura mater morphology HP_0010652 [An abnormality of the Dura mater.]
Absent epiphysis of the proximal phalanx of the thumb HP_0009664 [Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.]
Absent epiphyses of the thumb HP_0009686 [Absence of one or more epiphyses of the thumb.]
Elevated circulating membrane cofactor protein concentration HP_0034620 [Concentration of membrane cofactor protein in the blood circulation above the upper limit of normal.]
Abnormal circulating membrane cofactor protein concentration HP_0034618 [Concentration of membrane cofactor protein in the blood circulation outside the limits of normal. Membrane cofactor protein (MCP, CD46) is a cell surface complement regulatory protein which acts as a cofactor for the factor I-mediated cleavage of the activated complement components C3b/C4b.]
Bracket epiphysis of the proximal phalanx of the thumb HP_0009665 [An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.]