All terms in HP

Label Id Description
protein O-linked glycosylation via fucose GO_0036066 [A glycoprotein biosynthetic process starting with the covalent linkage of a fucose via an alpha-glycosidic bond to the oxygen atom of a serine or threonine side chain in a protein, which can be further elongated with the sequential addition of sugar units resulting in the formation of a protein O-linked glycan. This modification typically occurs within specific motifs, such as EGF-like or thrombospondin type-1 repeats.]
renal parenchyma UBERON_0008987 [The functional tissue of the kidney, consisting of the nephrons.]
Skewfoot HP_0032649 [A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus.]
Pes planus HP_0001763 [A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.]
Tubularization of Bowman capsule HP_0032648 [The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.]
Widened proximal tibial metaphyses HP_0005028
Renal tubular epithelial cell apoptosis HP_0032647 [Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells are rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.]
Renal interstitial xanthogranulomatous inflammation HP_0032646 [Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.]
Abnormal renal insterstitial morphology HP_0032581 [Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.]
Mesomelic/rhizomelic limb shortening HP_0005026
Renal interstitial mononuclear cell infiltration HP_0032645 [Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).]
Undetectable light- and dark-adapted electroretinogram HP_0007688 [Absence of the combined rod-and-cone response on electroretinogram.]
Renal interstitial deposits HP_0032644 [Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.]
trans-synaptic signaling, modulating synaptic transmission GO_0099550 [Cell-cell signaling between presynapse and postsynapse, across the synaptic cleft, that modulates the synaptic transmission properties of the synapse.]
trans-synaptic signaling GO_0099537 [Cell-cell signaling in either direction across the synaptic cleft.]
Unilateral ptosis HP_0007687 [A unilateral form of ptosis.]
Hypoplastic distal humeri HP_0005025 [Underdevelopment of the distal portion of the humerus.]
Aplasia/hypoplasia of the humerus HP_0006507 [Absence (due to failure to form) or underdevelopment of the humerus.]
Avascular peripheral retina HP_0007685 [Incomplete peripheral vascular development.]
Bilateral elbow dislocations HP_0005021