All terms in HP

Label Id Description
vitamin C CHEBI_176783 [Any member of a group of vitamers that belong to the chemical structural class called butenolides that exhibit biological activity against vitamin C deficiency in animals. The vitamers include L-ascorbic acid and its salt, ionized and oxidized forms.]
butenolide CHEBI_50523 [A gamma-lactone that consists of a 2-furanone skeleton and its substituted derivatives.]
Hand muscle atrophy HP_0009130 [Muscular atrophy involving the muscles of the hand.]
Distal upper limb amyotrophy HP_0007149 [Muscular atrophy of distal arm muscles.]
Aplasia/Hypoplasia of the phalanges of the hallux HP_0010058
Aplasia of the phalanges of the toes HP_0010745 [Absence of a digit or of one or more phalanges of a toe.]
Reduced upper to lower segment ratio HP_0012773 [Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present.]
Abnormal upper to lower segment ratio HP_0012772 [A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.]
Hypoplasia of the phalanges of the toes HP_0010746
Increased arm span HP_0012771 [Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).]
Mixed hypo- and hyperpigmentation of the skin HP_0009123
Hypopigmentation of the skin HP_0001010 [A reduction of skin color related to a decrease in melanin production and deposition.]
Hyperpigmentation of the skin HP_0000953 [A darkening of the skin related to an increase in melanin production and deposition.]
Reduced arm span HP_0012770 [Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).]
Retinal neoplasm HP_0012777 [A benign or malignant tumor (abnormal growth of tissue) of the retina.]
Neoplasm of the eye HP_0100012 [A tumor (abnormal growth of tissue) of the eye.]
Lipodystrophy HP_0009125 [Degenerative changes of the fat tissue.]
Increased connective tissue HP_0009025 [The presence of an abnormally increased amount of connective tissue.]
Stellate iris HP_0012775 [A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.]
Mesoaxial foot polydactyly HP_0010112 [The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.]