Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Uveal coloboma - cleft lip and palate - intellectual disability	Orphanet_1473
nightmare	EFO_0009844	[A disturbing dream that occurs during rapid eye movement sleep and results in feelings of strong terror, fear, distress, or anxiety.]
Coloboma of macula - brachydactyly type B	Orphanet_1471	[Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.]
inherited retinal dystrophy	MONDO_0019118	[An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.]
cytoplasmic vesicle part	GO_0044433	[ Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell. ]
cytoplasmic part	GO_0044444	[ Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. ]
cytoplasmic vesicle	GO_0031410
chloroplast part	GO_0044434	[ Any constituent part of a chloroplast, a chlorophyll-containing plastid with thylakoids organized into grana and frets, or stroma thylakoids, and embedded in a stroma. ]
chloroplast	GO_0009507	[ A chlorophyll-containing plastid with thylakoids organized into grana and frets, or stroma thylakoids, and embedded in a stroma. ]
tachypnea	EFO_0009840	[Abnormal increase of rate of breathing.]
plastid	GO_0009536	[ Any member of a family of organelles found in the cytoplasm of plants and some protists, which are membrane-bounded and contain DNA. Plant plastids develop from a common type, the proplastid. ]
sexual arousal	EFO_0009849	[Heightened urges of sexual desires in preparation for sexual behavior.]
reproductive process	GO_0000003	[A process in which an organism or part of an organism participates towards the generation of offspring.]
mental process	EFO_0004323	[Conceptual functions or thinking in all its forms.]
obsolete_reticular dysgenesis	Orphanet_33355
midbrain basal plate	UBERON_0010285	[Portion of tissue that is dorsolateral to the floor plate and part of the midbrain.]
obsolete_Interauricular communication	Orphanet_1478
catalepsy	EFO_0009845	[A nervous system disorder characterized by diminished responsiveness and consciousness, and rigidity of the body.]
Atrial septal defect - atrioventricular conduction defects	Orphanet_1479	[Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.]
Rare syndrome with cardiac malformations	Orphanet_156532