Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
autoimmune disorder of the nervous system	MONDO_0002977	[A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.]
embryonic stage 12	EFO_0005872	[Germ band retraction. Stage 12 begins when germ-band retraction starts and ends when this process is complete so that the prospective anal plate occupies the posterior pole. During this stage the posterior and anterior midgut primordia meet and fuse and the tracheal pits fuse to form the tracheal tree. Duration at 25 degrees C: approximately 120 minutes (440-560 minutes after egg laying).]
Drosophila embryo stage	EFO_0005859	[The stage of the Drosophila life-cycle from fertilization to hatching. [ FBC:DOS ] ]
Delayed fine motor development	HP_0010862	[A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.]
Motor delay	HP_0001270	[A type of Developmental delay characterized by a delay in acquiring motor skills.]
ciliary body disorder	MONDO_0002970	[A disease involving the ciliary body.]
embryonic stage 13	EFO_0005873	[Stage 13 begins at the completion of germ-band retraction, when the prospective anal plate occupy the posterior pole. The dorsal ridge becomes apparent externally; the clypeolabrum retracts, leaving a triangular shaped gap at the anterior pole; the labium moves to the ventral midline. This stage ends when head involution begins. Duration at 25 degrees C: Approximately 60 minutes (560-620 minutes after egg laying).]
Receptive language delay	HP_0010863	[A delay in the acquisition of the ability to understand the speech of others.]
embryonic stage 10	EFO_0005870	[Stage 10 begins with the appearance of the stomodeal invagination, slightly ventral to the anterior pole. Periodic furrows appear in the embryonic epidermis around the middle of the stage. The germ band continues to extend, reaching its maximum extent of 75% egg length towards the end of the stage. The end of the stage is marked by the beginning of invagination of the tracheal placodes. Duration at 25 degrees : approximately 60 minutes (260-320 minutes after egg laying).]
embryonic stage 11	EFO_0005871	[Stage 11 begins with the invagination of the tracheal placodes. Para-segmental furrow form and segment boundary furrows become deep folds. Within the head, gnathal protuberances become apparent. The end of this stage is signaled by the appearance of a distinct cleft at the posterior pole of the embryo, which becomes detached from the vitelline membrane. This marks the beginning of germ-band retraction. Duration at 25 degrees C: approximately 120 minutes (320-440 minutes after egg laying).]
embryonic stage 16	EFO_0005876	[Stage 16 begins when the intersegmental grooves can be distinguished at mid-dorsal level, and ends when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. During this stage the ventral cord retracts to about 60% egg length. Duration at 25 degrees C: approximately 180 minutes (780-960 minutes after egg laying).]
embryonic stage 17	EFO_0005877	[Stage 17 begins when the dorsal ridge (frontal sac) has overgrown the tip of the cylpeolabrum, which is thereby enclosed in the atrium. It lasts until hatching of the embryo (approximately 24 hours after egg laying), during which time much terminal differentiation occurs, the tracheal tree fills with air, so becoming completely visible, and the ventral cord continues to retract. Duration at 25 degrees C: approximately 8 hours (16-24 hours after egg laying).]
short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	MONDO_0014948
embryonic stage 14	EFO_0005874	[Stage 14 begins with the initiation of head involution. Closure of the midgut around the yolk and dorsal closure continue. Dorsal closure is 80% complete by the end of this stage. This stage ends with the appearance of the second midgut constriction. Duration at 25 degrees C: approximately 60 minutes (620-680 minutes after egg laying)]
embryonic stage 15	EFO_0005875	[Stage 15 begins with the appearance of the second midgut constriction. During this stage the 1st and 3rd midgut constrictions form, dorsal closure is completed, and epidermal segmentation is accomplished. This stage ends when the intersegmental grooves can be distinguished at mid-dorsal level. Duration at 25 degrees C: approximately 100 minutes (680-780 minutes after egg laying).]
Sifrim-Hitz-Weiss syndrome	MONDO_0014946
Abnormality of vitamin metabolism	HP_0100508	[An anomaly in the metabolism of a vitamin.]
Shashi-Pena syndrome	MONDO_0014963
intellectual disability, autosomal recessive 57	MONDO_0014962	[Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.]
mitochondrial DNA depletion syndrome, myopathic form	MONDO_0012301	[Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.]