Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
developmental defect of the eye	MONDO_0020145
coloboma of optic nerve	MONDO_0007354
Open mouth	HP_0000194	[A facial appearance characterized by a permanently or nearly permanently opened mouth.]
Abnormality of mouth shape	HP_0011338	[An abnormality of the outline, configuration, or contour of the mouth.]
primary non-essential cutis verticis gyrata	MONDO_0018168
primary cutis verticis gyrata	MONDO_0019033	[Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).]
Mixed Lobular and Ductal Breast Carcinoma	EFO_1000382	[A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor.]
Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma	EFO_1000383	[An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry.]
adenoma	EFO_0000232	[A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.]
hereditary retinoblastoma	MONDO_0018160	[An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.]
retinoblastoma	MONDO_0008380	[A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.]
Mixed Cell Uveal Melanoma	EFO_1000380	[A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.]
autosomal recessive cutis laxa type 2A	MONDO_0018163	[An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.]
osteogenesis imperfecta and a reduction of bone mineral density.	MONDO_0800064	[A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.]
autosomal recessive cutis laxa type 2	MONDO_0019573	[A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).]
Mixed Epithelial Stromal Tumor of the Kidney	EFO_1000381	[A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.]
inborn serine deficiency	MONDO_0000421	[An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.]
Myelodysplastic/Myeloproliferative Neoplasm	EFO_1000388	[A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.]
Myofibroma	EFO_1000389	[A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.]
benign perivascular tumor	MONDO_0003342	[A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.]