Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
rhegmatogenous retinal detachment	EFO_0005240	[A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium., Retinal detachment secondary to retinal tear or break.]
microlissencephaly-micromelia syndrome	MONDO_0018860	[Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.]
sulfate	CHEBI_16189	[A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid.]
Picea sitchensis	NCBITaxon_3332
Picea mariana	NCBITaxon_3335
ovarian clear cell cystadenocarcinoma	MONDO_0004222	[A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures.]
ovarian clear cell adenocarcinoma	EFO_1000042	[A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia.]
ovarian cystadenocarcinoma	EFO_1001962	[An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.]
ulcer disease	MONDO_0043839	[A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.]
retinitis punctata albescens	MONDO_0018877
fundus albipunctatus	MONDO_0007639	[Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.]
spastic cerebral palsy	MONDO_0000396	[A form of cerebral palsy wherein spasticity is the exclusive impairment present.]
branchiootic syndrome	MONDO_0018878	[Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).]
Picea glauca	NCBITaxon_3330
Li-Fraumeni syndrome	MONDO_0018875	[Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).]
leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	MONDO_0016213	[Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.]
arterial calcification of infancy	MONDO_0018870	[Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.]
Larix laricina	NCBITaxon_3326
Picea abies	NCBITaxon_3329
diffuse scleroderma	EFO_0000404	[A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement., A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability.]