All terms in HP

Label Id Description
Dysmetria HP_0001310 [A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.]
Cerebral arteriovenous malformation HP_0002408 [An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.]
Leukodystrophy HP_0002415 [Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.]
Abnormal CNS myelination HP_0011400 [An abnormality of myelination of nerves in the central nervous system.]
Spina bifida HP_0002414 [Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.]
Spinal dysraphism HP_0010301 [A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.]
amniotic fluid UBERON_0000173 [Amniotic fluid is a bodily fluid consisting of watery liquid surrounding and cushioning a growing fetus within the amnion. It allows the fetus to move freely without the walls of the uterus being too tight against its body. Buoyancy is also provided. The composition of the fluid changes over the course of gestation. Initially, amniotic fluid is similar to maternal plasma, mainly water with electrolytes. As the fetus develops, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid.]
respiration organ UBERON_0000171 [Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms.]
Myokymia HP_0002411 [Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.]
pair of lungs UBERON_0000170 [The pair of anatomical structures comprised of a left lung and right lung.]
anatomical collection UBERON_0034925 [A collection of anatomical structures that are alike in terms of their morphology or developmental origin.]
Aqueductal stenosis HP_0002410 [Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.]
excreta UBERON_0000174 [A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity.]
haemolymphatic fluid UBERON_0000179 [Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs.]
blood UBERON_0000178 [A fluid that is composed of blood plasma and erythrocytes.]
buccal fat pad UBERON_0012167 [The Buccal fat pad is one of several encapsulated fat masses in the cheek. It is a deep fat pad located on either side of the face between the buccinator muscle and several more superficial muscles. It should not be confused with the malar fat pad, which is directly below the skin of the cheek. It should also not be confused with jowl fat pads. It is implicated in the formation of hollow cheeks and the nasolabial fold, but not in the formation of jowls.]
head connective tissue UBERON_0003566 [A portion of connective tissue that is part of a head [Automatically generated definition].]
Subependymal cysts HP_0002416 [Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.]
umbilical cord blood UBERON_0012168 [Blood that remains in the placenta and in the attached umbilical cord after childbirth[WP].]
arterial blood UBERON_0013755 [A blood that is part of a artery.]