All terms in HP

Label Id Description
Bracket epiphyses of the thumb HP_0009687 [An abnormality 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.]
Aplasia of the falx cerebri HP_0010654 [A developmental defect characterized by aplasia of the Falx cerebri.]
Hepatic xanthomatosis HP_0034621 [Lipid deposits localized within the liver. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.]
Cone-shaped epiphysis of the proximal phalanx of the thumb HP_0009666 [A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. 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.]
Cone-shaped epiphysis of the thumb HP_0009688 [A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.]
Adrenal xanthomatosis HP_0034622 [Lipid deposits localized within the adrenal gland. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.]
Enlarged epiphysis of the proximal phalanx of the thumb HP_0009667 [Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. 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.]
Enlarged thumb epiphysis HP_0009689 [Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.]
Splenic xanthomatosis HP_0034623 [Lipid deposits localized within the spleen. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.]
Fragmentation of the epiphysis of the proximal phalanx of the thumb HP_0009668 [Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.]
Fragmentation of thumb epiphysis HP_0009690 [Epiphysis of the thumb having multiple bony fragments.]
Irregular epiphysis of the proximal phalanx of the thumb HP_0009669 [Irregular radiographic opacity of the epiphysis 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.]
Irregular thumb epiphysis HP_0009691 [Uneven radiographic opacity of the one or more epiphyses of the thumb.]
Attention deficit hyperactivity disorder HP_0007018 [Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.]
Progressive forgetfulness HP_0007017
Corticospinal tract hypoplasia HP_0007016
Aplasia/Hypoplasia involving the corticospinal tracts HP_0007365
Elevated urine erythritol level HP_0034613 [Amount of erythritol in the urine above the upper limit of normal.]
Poor gross motor coordination HP_0007015 [An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.]
Elevated circulating erythritol concentration HP_0034614 [Concentration of erythritol in the blood circulation above the upper limit of normal.]