All terms in HP

Label Id Description
Elevated circulating alpha-L-fucosidase activity HP_0034729 [Activity of the enzyme alpha-L-fucosidase above the upper limit of normal.]
Prominence of the premaxilla HP_0010759 [Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.]
Antecubital pterygium HP_0009760 [Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.]
Anterior clefting of vertebral bodies HP_0009761 [Anterior schisis (cleft or cleavage) of vertebral bodies.]
Vertebral clefting HP_0008428 [Schisis (cleft or cleavage) of vertebral bodies.]
Facial wrinkling HP_0009762 [Excessive wrinkling of the skin of the face.]
Cleft mandible HP_0010752 [Midline deficiency of the mandible and some or all overlying tissues.]
Midline defect of mandible HP_0010753
Self-healing squamous epithelioma HP_0034720 [A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars.]
Elevated circulating pristanic acid concentration HP_0034721 [Concentration of pristanic acid in the blood circulation above the upper limit of normal.]
Low hanging columella HP_0009765 [Columella extending inferior to the level of the nasal base, when viewed from the side.]
Dermatochalasis HP_0010750 [Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.]
Sarcoplasmic bodies HP_0034722 [Rounded or oval structures that appeared brown on hematoxylin and eosin and red on the modified Gomori trichrome stain.]
Dimple chin HP_0010751 [A persistent midline depression of the skin over the fat pad of the chin.]
Broad finger HP_0001500 [Increased width of a non-thumb digit of the hand.]
Abnormal upper limb bone morphology HP_0040070
lipoprotein cholesterol CHEBI_50404 [Cholesterol esters and free cholesterol which are contained in or bound to lipoproteins.]
Corticospinal tract atrophy HP_0007117
Naso-orbital encephalocele HP_0007115 [A type of encephalocele that occurs along the medial orbit wall at the level of the frontal process of the maxilla and the ethmoid-lacrimal bone junction.]
Frontoethmoidal encephalocele HP_0007330 [A type of anterior encephalocele in which there is a protrusion of the contents of the skull through a breach at the point where the frontal and ethmoidal bones meet. Frontoethmoidal encephalocele can be divided further into three distinct categories: nasofrontal, nasoethmoidal, and nasoorbital.]