Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
GM17220	CLO_0014375	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50]
Ornithine transcarbamylase deficiency	EFO_0007409	[Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications., An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase., Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders.]
Syndromic neurometabolic disease with X-linked intellectual disability	Orphanet_182076
urogenital tuberculosis	EFO_0007531	[An extrapulmonary tuberculosis that is located_in urogenital system., A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.]
orbital cancer	EFO_0007408	[A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis., A primary or metastatic malignant neoplasm involving the orbit.]
orbit neoplasm	MONDO_0024611	[A benign or malignant neoplasm that affects the orbit.]
GM17221	CLO_0014377	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50]
oral tuberculosis	EFO_0007407	[Tuberculosis of the mouth, tongue, and salivary glands., A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible.]
gastrointestinal tuberculosis	EFO_0007280	[An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting., Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area.]
GM17254	CLO_0014390	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
GM17251	CLO_0014391	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1) HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200]
GM17253	CLO_0014389	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
GM17259	CLO_0014388	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
Protruding ear	HP_0000411	[Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).]
Abnormal pinna morphology	HP_0000377	[An abnormality of the pinna, which is also referred to as the auricle or external ear.]
positive regulation of sensory perception of pain	GO_1904058	[Any process that activates or increases the frequency, rate or extent of sensory perception of pain.]
regulation of sensory perception of pain	GO_0051930	[Any process that modulates the frequency, rate or extent of the sensory perception of pain, the series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal.]
obsolete_radio-ulnar synostosis, bilateral	Orphanet_295219
Atresia of the external auditory canal	HP_0000413	[Absence or failure to form of the external auditory canal.]
Abnormality of the outer ear	HP_0000356	[An abnormality of the external ear.]