Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Osseous syndactyly of toes	HP_0010717	[Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".]
2-3 toe syndactyly	HP_0004691	[Syndactyly with fusion of toes two and three.]
Abnormal serum dehydroepiandrosterone level	HP_0500022	[A deviation from the normal concentration of dehydroepiandrosterone in the circulation.]
Abnormal circulating androgen level	HP_0030347	[An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.]
Shoulder muscle aplasia	HP_0500023	[Absence of shoulder muscles.]
Amyoplasia	HP_0003634	[Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.]
Aplasia/Hypoplasia involving the shoulder musculature	HP_0001464	[Absence or underdevelopment of the muscles of the shoulder.]
Aplasia of the musculature of the pelvis	HP_0500024	[Absence of the musculature of the pelvis.]
Adenoma sebaceum	HP_0009720	[The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.]
Shagreen patch	HP_0009721	[A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather.]
Abnormal cardiac biomarker test	HP_0500020	[Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.]
Dental enamel pits	HP_0009722	[The presence of small depressions in the dental enamel.]
Reduced brain gamma-aminobutyric acid level by MRS	HP_0500021	[An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).]
Abnormality of the subungual region	HP_0009723	[A lesion located beneath a fingernail or toenail.]
Subungual fibromas	HP_0009724	[The presence of fibromata beneath finger or toenails.]
Urinary tract neoplasm	HP_0010786	[The presence of a neoplasm of the urinary system.]
Renal neoplasm	HP_0009726	[The presence of a neoplasm of the kidney.]
Achromatic retinal patches	HP_0009727	[Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina.]
Hypopigmentation of the fundus	HP_0007894	[Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).]
Hypoplasia of the musculature of the pelvis	HP_0500026	[Underdevelopment of the musculature of the pelvis.]