All terms in HP

Label Id Description
Decreased Achilles reflex HP_0009072 [Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.]
Progressive proximal muscle weakness HP_0009073 [Lack of strength of the proximal muscles that becomes progressively more severe.]
Proximal muscle weakness HP_0003701 [A lack of strength of the proximal muscles.]
Progressive muscle weakness HP_0003323
Broad hallux HP_0010055 [Visible increase in width of the hallux without an increase in the dorso-ventral dimension.]
Broad toe HP_0001837 [Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.]
Anti-HLA-B antibody positivity HP_0034022 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B).]
Anti-class I HLA antibody positivity HP_0034017 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C).]
Progressive spinal muscular atrophy HP_0009067 [Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.]
Spinal muscular atrophy HP_0007269 [Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.]
Anti-HLA-B IgG1 antibody positivity HP_0034023 [The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).]
homeostasis of number of cells GO_0048872 [Any biological process involved in the maintenance of the steady-state number of cells within a population of cells.]
multicellular organismal-level homeostasis GO_0048871 [Any process involved in the maintenance of an internal steady state at the level of the multicellular organism.]
Abnormal hallux phalanx morphology HP_0010057
Anti-HLA-B IgG3 antibody positivity HP_0034024 [The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).]
homeostasis of number of cells within a tissue GO_0048873 [Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue.]
tissue homeostasis GO_0001894 [A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function.]
Abnormal metatarsal morphology HP_0001832 [Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).]
Lethal infantile mitochondrial myopathy HP_0009069
Mitochondrial myopathy HP_0003737 [A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.]