Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
craniosynostosis-intracranial calcifications syndrome	MONDO_0012035	[Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.]
early rosette growth stage	PO_0007081	[Rosette has reached approximately 20% of its final diameter.]
LP.20 twenty or more leaves whorls visible stage	PO_0007082	[The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground.]
Digital anomalies - intellectual disability - short stature	Orphanet_352487
2.03 main shoot and axillary shoots visible at three nodes stage	PO_0007080	[The stage at which main shoot and axillary shoots at three nodes are visible.]
leaf lamina	PO_0020039	[A phyllome lamina (PO:0025396) that is the part of a leaf (PO:0025034) exclusive of the petiole (PO:0020038) or leaf sheath (PO:0020104), if either is present.]
petiole	PO_0020038	[A stalk of a leaf.]
mesocotyl	PO_0020037	[A shoot internode that is the part of an embryo axis or the stem of a seedling above the scutellum and below the coleoptile. ]
Braddock syndrome	MONDO_0012032	[Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.]
pulmonary hypertension	MONDO_0005149	[Increased pressure within the pulmonary circulation due to lung or heart disorder.]
bradyopsia	MONDO_0012033	[Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.]
radicle	PO_0020031	[An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003).]
leaf base	PO_0020040	[A phyllome base (PO:0025140) that is part of a leaf (PO:0025034).]
isolated congenital growth hormone deficiency	MONDO_0000050
sporophyte senescent stage	PO_0007017	[Senescence complete; ready for seed harvest., A sporophyte development stage during which a sporophyte participates in multicellular organism senescence.]
Atrophy/Degeneration affecting the brainstem	HP_0007366
booting stage	PO_0007014	[An inflorescence detectable phase characterized by a swelling of the flag leaf sheath, caused by an increase in the size of the inflorescence as it grows up the leaf sheath.]
radicle emergence	PO_0007015	[A root development stage during which a radicle emerges from the seed coat.]
Reis-Bucklers corneal dystrophy	MONDO_0012043	[Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.]
epithelial-stromal TGFBI dystrophy	MONDO_0000764	[Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.]