Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Retinal fold	HP_0008052	[A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.]
Warm reactive autoantibody positivity	HP_0025440	[Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.]
calcium atom	CHEBI_22984
Achilles tendon calcification	HP_0025441	[Ectopic deposition of calcium salts in the Achilles tendon.]
X-linked dominant inheritance	HP_0001423	[A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.]
X-linked inheritance	HP_0001417	[A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.]
polydipsia	NBO_0000542
dipsosis	NBO_0000541
Heterogeneous	HP_0001425
sterol homeostasis	GO_0055092	[Any process involved in the maintenance of an internal steady state of sterol within an organism or cell.]
lipid homeostasis	GO_0055088	[Any process involved in the maintenance of an internal steady state of lipid within an organism or cell.]
ornithinium(2+)	CHEBI_46913
Mitochondrial inheritance	HP_0001427	[A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).]
Somatic mutation	HP_0001428	[A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.]
Hepatosplenomegaly	HP_0001433	[Simultaneous enlargement of the liver and spleen.]
Splenomegaly	HP_0001744	[Abnormal increased size of the spleen.]
Autosomal dominant somatic cell mutation	HP_0001444	[Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body.]
social behavior phenotype	NBO_0000564
Splenogonadal fusion	HP_0025410	[Joining of the spleen and a gonad during embryological development.]
Bulbar urethral stricture	HP_0025415	[A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.]