All terms in HP
| Label | Id | Description |
|---|---|---|
| Modic type III vertebral endplate changes | HP_0030778 | [An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.] |
| Modic type vertebral endplate changes | HP_0030775 | [An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.] |
| Ethmocephaly | HP_0030779 | [Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.] |
| Protrusio acetabuli | HP_0003179 | [Intrapelvic bulging of the medial acetabular wall.] |
| Modic type I vertebral endplate changes | HP_0030776 | [An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.] |
| Modic type II vertebral endplate changes | HP_0030777 | [An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.] |
| Mitochondrial swelling | HP_0030774 | [The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.] |
| Hypoplastic ischia | HP_0003175 | [Underdevelopment of the ischium, which forms the lower and back part of the hip bone.] |
| Abnormal middle ear reflexes | HP_0004454 | |
| Abnormality of the acoustic reflex | HP_0040121 | [An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.] |
| Squared iliac bones | HP_0003177 | [A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.] |
| Impairment of the the acoustic reflex | HP_0040122 | |
| Impairment of the reflex of the tensor tympani muscle | HP_0040123 | |
| Hypoplastic pubic bone | HP_0003173 | [Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.] |
| Abnormal sweat electrolytes | HP_0040128 | |
| glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity | GO_0043891 | [Catalysis of the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD(P)+ = 3-phospho-D-glyceroyl phosphate + NAD(P)H + H+.] |
| corticosteroid | CHEBI_50858 | [A natural or synthetic analogue of the hormones secreted by the adrenal gland.] |
| Flat acetabular roof | HP_0003180 | [Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.] |
| Patent tuba eustachii | HP_0040124 | |
| Proximal femoral focal deficiency | HP_0030772 | [Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.] |