All terms in HP

Label Id Description
Hypoplasia of the zygomatic bone HP_0010669 [Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.]
Reduced circulating matrix metalloproteinase 2 concentration HP_0034615 [Concentration of matrix metalloproteinase 2 in the blood circulation below the lower limit of normal.]
Hypoplasia of the anterior nasal spine HP_0010666 [Underdevelopment of the anterior nasal spine of maxilla.]
Aplasia of the maxilla HP_0010667 [A congenital defect characterized by absence of the Maxilla.]
Aplasia of facial bones HP_0040008
Abnormal circulating coenzyme concentration HP_0034616 [Concentration of a coenzyme (an organic molecule that binds to the active sites of an enzyme to promote the catalysis of a reaction) is above or below the limits of normal.]
Elevated circulating S-adenosyl methionine concentration HP_0034617 [Concentration of S-adenosyl methionine (SAM) in the blood circulation above the upper limit of normal. SAM is a cosubstrate involved in methyl group transfers, transsulfuration, and aminopropylation.]
Fourth cranial nerve palsy HP_0007011 [Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.]
Poor fine motor coordination HP_0007010 [An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.]
Irregular epiphysis of the distal phalanx of the thumb HP_0009680 [Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.]
Decreased circulating membrane cofactor protein concentration HP_0034619 [Concentration of membrane cofactor protein in the blood circulation below the lower limit of normal.]
Ivory epiphysis of the distal phalanx of the thumb HP_0009681 [Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.]
Pseudoepiphysis of the proximal phalanx of the thumb HP_0009671 [A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.]
Pseudoepiphysis of the thumb HP_0009693 [A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.]
Small epiphysis of the proximal phalanx of the thumb HP_0009672 [Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.]
Small thumb epiphysis HP_0009694 [Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.]
Absence of the third cerebral ventricle HP_0010661 [A developmental defect characterized by the absence of the third ventricle.]
Stippling of the epiphysis of the proximal phalanx of the thumb HP_0009673 [The presence of abnormal punctate (speckled, dot-like) calcifications in 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.]
Stippling of thumb epiphysis HP_0009695 [The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.]
Triangular epiphysis of the proximal phalanx of the thumb HP_0009674 [A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 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.]