Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
bulbar polio	EFO_0007186	[A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765), A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing.]
paralytic poliomyelitis	MONDO_0000341	[A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.]
disorder of medulla oblongata	MONDO_0015141	[A disease that involves the medulla oblongata.]
oculocutaneous albinism type 3	MONDO_0008747	[Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.]
obsolete_Okihiro syndrome due to a point mutation	Orphanet_261647
oculocutaneous albinism type 2	MONDO_0008746	[Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.]
oculocutaneous albinism type 1A	MONDO_0008745	[Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.]
autosomal recessive ocular albinism	MONDO_0040653	[Autosomal recessive form of ocular albinism (disease).]
oculocutaneous albinism type 1	MONDO_0018135	[Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).]
alar cartilages hypoplasia-coloboma-telecanthus syndrome	MONDO_0008744	[Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.]
Stimmler syndrome	MONDO_0008743	[Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.]
autosomal dominant severe congenital neutropenia	MONDO_0008742	[Autosomal dominant form of severe congenital neutropenia.]
PAGOD syndrome	MONDO_0008741	[PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.]
syndromic uterovaginal malformation	MONDO_0015846	[A uterovaginal malformation that is part of a larger syndrome.]
agnathia-otocephaly complex	MONDO_0008740	[Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.]
angiopoietin-related protein 4 measurement	EFO_0020149	[The determination of the amount of angiopoietin-related protein 4 in a sample]
Recurrent fractures	HP_0002757	[The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).]
amyloid beta A4 protein measurement	EFO_0020145	[The determination of the amount of amyloid beta A4 protein in a sample]
Polyuria	HP_0000103	[An increased rate of urine production.]
Abnormal urine output	HP_0012590	[An abnormal amount of urine production.]