All terms in HP

Label Id Description
Absent epiphysis of the distal phalanx of the thumb HP_0009675 [Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.]
Fusion of the left and right thalami HP_0010664 [A developmental defect characterized by fusion of the left and right halves of the thalamus.]
Decreased circulating myo-inositol concentration HP_0034610 [Concentration of myo-inositol in the blood circulation below the lower limit of normal.]
Bracket epiphysis of the distal phalanx of the thumb HP_0009676 [An abnormality of the distal 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.]
Bilateral coxa valga HP_0010665 [The presence of bilateral coxa valga.]
Elevated circulating arabinitol concentration HP_0034611 [Concentration of arabinitol in the blood circulation above the upper limit of normal.]
Abnormal forebrain morphology HP_0100547 [An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.]
Cone-shaped epiphysis of the distal phalanx of the thumb HP_0009677 [A cone-shaped appearance of the epiphysis of the distal 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.]
Enlarged epiphysis of the distal phalanx of the thumb HP_0009678 [Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.]
Elevated urine arabitol level HP_0034612 [Amount of arabitol in the urine above the upper limit of normal.]
Fragmentation of the epiphysis of the distal phalanx of the thumb HP_0009679 [Epiphysis of the distal phalanx of the thumb having multiple bony fragments.]
Clinical anophthalmos HP_0020001 [Congenital anophthalmos is a rare ocular anomaly in which histologically detectable eyeball structures are absent due to poor development of the primary optic nerve vesicle. However, with appropriate imaging or intraoperatively, rudimentary remains of this structure can usually be detected. Therefore, the term clinical congenital anophthalmos seems more appropriate and denotes a phenotypic range between microphthalmos and anophthalmos.]
Ileal stricture HP_0020002 [A pathological narrowing of the ileum that is caused by the development of a ring of scar tissue that constricts the ileal lumen.]
Embryo developmental arrest HP_0020003 [A failure of an embryo to progress through the early stages of preimplantation development (typically from fertilization, i.e., 1-cell zygote, to blastocyst on day 5-6), and is used clinically when embryos fail to reach transferable stages in assisted reproductive technologies (ARTs) such in vitro fertilization (IVF). Arrested embryo development is characterized by downregulation of metabolic activity and cessation of cell division. In order for an embryo to be characterized as non-viable, i.e., arrested, it should present with a lack of cleaving activity and fail to show a sign of mitotic cellular division for at least 24 hours. One can observe failure of a zygote to cleave, cleavage stage arrest either on day 2 or day 3 when the embryo is expected to be between the 2 and 8-cell stage, failure to compact to morula, or failure to form a blastocyst.]
Cerebral berry aneurysm HP_0007029 [A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.]
Abnormal CSF guanidinoacetic acid concentration HP_0020004 [The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is outside the limits of normal.]
Abnormal CSF amino acid concentration HP_0500184 [Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.]
Elevated circulating alkaline phosphatase concentration HP_0003155 [Abnormally increased serum levels of alkaline phosphatase activity.]
Urinary bladder neurofibroma HP_0034646 [A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.]
Poorly formed metencephalon HP_0007027 [A morphological abnormality of the metencephalon.]