Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
encephalopathy, acute, infection-induced	MONDO_0000166
microphthalmia, isolated, with cataract	MONDO_0000169
isolated microphthalmia	MONDO_0000062	[A microphthalmia that is not part of a larger syndrome.]
cataract	MONDO_0005129	[Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)]
epilepsy, familial adult myoclonic	MONDO_0000160
protein kinase inhibitor	CHEBI_37699	[An agent that inhibits protein kinases.]
autoimmune thyroid disease, susceptibility to	MONDO_0000162
autoimmune thyroid disease	EFO_0006812	[a disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroid’s cells, thereby destroying it. It presents with hypothyroidism or hyperthyroidism and the presence or absence of goiters., Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis.]
choanal atresia	MONDO_0012155	[Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.]
Neu-Laxova syndrome	MONDO_0000179	[Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.]
lissencephaly type 3	MONDO_0015148
microphthalmia, isolated, with coloboma	MONDO_0000170	[A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.]
coloboma	MONDO_0001476	[An abnormality in which a part of a structure in one or both eyes is missing.]
leaf sheath	PO_0020104	[A tubular portion of the leaf surrounding the stem, as in the Poaceae.]
vascular leaf	PO_0009025	[A leaf (PO:0025034) in a vascular plant.]
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	MONDO_0012160	[Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.]
flag leaf	PO_0020103	[The last mature leaf before the inflorescence in a cereal crop plant.]
susceptibility to respiratory infections associated with CD8alpha chain mutation	MONDO_0012161	[Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.]
hypocotyl	PO_0020100	[A stem internode (PO:0020142) below the cotyledonary node (PO:0025321) and transitional to a root (PO:0009005) of a plant embryo (PO:0009009) or a seedling (PO:0000003).]
Meacham syndrome	MONDO_0012164	[Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.]