All terms in HP

Label Id Description
Avascular necrosis of the capital femoral epiphysis HP_0005743 [Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.]
obsolete Generalized osteoporosis with pathologic fractures HP_0005744
Myelocystocele HP_0030709 [Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.]
exocytosis GO_0006887 [A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for example of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.]
Unilateral lung agenesis HP_0030707 [Lack of development of one lung.]
Aplasia/Hypoplasia of the lungs HP_0006703
Myeloschisis HP_0030708 [The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.]
Ranula HP_0030706 [A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location.]
Basilar impression HP_0005758 [Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.]
Small flat posterior fossa HP_0005759 [An abnormally small and flat configuration of the posterior cranial fossa.]
Neonatal epiphyseal stippling HP_0005756 [The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.]
Flattened moderately deformed vertebrae HP_0005752
import into cell GO_0098657 [The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis.]
amino trisaccharide CHEBI_59266 [An amino oligosaccharide that is a trisaccharide having one or more substituted or unsubstituted amino groups in place of hydroxy groups at unspecified positions.]
trisaccharide derivative CHEBI_63571 [An oligosaccharide derivative that is formally obtained from a trisaccharide.]
amino oligosaccharide CHEBI_22483
Fifth finger distal phalanx clinodactyly HP_0005769 [Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).]
Clinodactyly of the 5th finger HP_0004209 [Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).]
Subperiosteal bone resorption HP_0003106 [Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.]
Neurenteric cyst HP_0030725 [The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.]