All terms in HP
| Label | Id | Description |
|---|---|---|
| Progressive forgetfulness | HP_0007017 | |
| Corticospinal tract hypoplasia | HP_0007016 | |
| Aplasia/Hypoplasia involving the corticospinal tracts | HP_0007365 | |
| 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.] |
| 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.] |
| 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 | |
| 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.] |
| 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.] |