Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
thrombopoietin	EFO_0003236	[Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1]]
familial scaphocephaly syndrome, McGillivray type	MONDO_0012307	[Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.]
familial scaphocephaly syndrome	MONDO_0015704
encephalopathy, progressive, with amyotrophy and optic atrophy	MONDO_0014968
cardiovascular drug	CHEBI_35554	[A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume.]
holoprosencephaly 5	MONDO_0012322	[Holoprosencephaly associated with mutations in the ZIC2 gene.]
microform holoprosencephaly	MONDO_0017219	[Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.]
alobar holoprosencephaly	MONDO_0019757	[Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.]
lobar holoprosencephaly	MONDO_0019756	[Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.]
septopreoptic holoprosencephaly	MONDO_0017218	[Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.]
midline interhemispheric variant of holoprosencephaly	MONDO_0019758	[Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.]
lethal acantholytic epidermolysis bullosa	MONDO_0012323	[Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.]
suprabasal epidermolysis bullosa simplex	MONDO_0015550	[A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes.]
migraine, familial hemiplegic, 3	MONDO_0012320	[Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.]
familial hemiplegic migraine	MONDO_0000700	[A migraine disorder characterized by individual and family history of aura that includes motor weakness.]
Frias syndrome	MONDO_0012324	[A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.]
prothrombin deficiency	MONDO_0024307
response to 5-fluoro-2'-deoxyuridine	GO_0097330	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 5'-fluoro-2-deoxyuridine stimulus.']
response to cytarabine	GO_0097331	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytarabine stimulus.]
response to olanzapine	GO_0097333	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a olanzapine stimulus.]