All terms in HP

Label Id Description
Increased pineal volume HP_0012686 [An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.]
Opto-chiasmatic atrophy HP_0034008 [Wasting (atrophy) of the optic chiasm.]
Abnormal optic chiasm morphology HP_0025163 [A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.]
Pelvic lipomatosis HP_0034009 [Overgrowth of fat in the perivesical and perirectal area.]
Multiple lipomas HP_0001012 [The presence of multiple lipomas (a type of benign tissue made of fatty tissue).]
Aplasia/Hypoplasia of the 3rd metacarpal HP_0010039 [Aplasia or Hypoplasia affecting the 3rd metacarpal.]
Quadriceps muscle atrophy HP_0009050 [Muscular atrophy involving the quadriceps muscle.]
Proximal lower limb amyotrophy HP_0008956 [Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.]
Increased muscle glycogen content HP_0009051 [An increased amount of glycogen in muscle tissue.]
Distal lower limb muscle weakness HP_0009053 [Reduced strength of the distal musculature of the legs.]
Lower limb muscle weakness HP_0007340 [Weakness of the muscles of the legs.]
chelator CHEBI_38161 [A ligand with two or more separate binding sites that can bind to a single metallic central atom, forming a chelate.]
ligand CHEBI_52214 [Any molecule or ion capable of binding to a central metal atom to form coordination complexes.]
Scapuloperoneal myopathy HP_0009054
Abnormal calf musculature morphology HP_0001430
Amyotrophy involving the shoulder musculature HP_0001465
obsolete Hypoplasia of deltoid muscle HP_0009044
Triangular shaped 1st metacarpal HP_0010033 [This term applies to a triangular shaped 1st metacarpal.]
Abnormal thalamic MRI signal intensity HP_0012696 [A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.]
Abnormal thalamus morphology HP_0010663 [An abnormality of the thalamus.]