Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
autosomal dominant distal hereditary motor neuropathy	MONDO_0015362	[Autosomal dominant form of distal hereditary motor neuropathy.]
neuronopathy, distal hereditary motor	MONDO_0000075
splenogonadal fusion-limb defects-micrognathia syndrome	MONDO_0008460	[Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.]
syndromic visceral malformation	MONDO_0015214
Endometrial Serous Adenocarcinoma	EFO_1000238	[A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.]
Endometrial Small Cell Carcinoma	EFO_1000239	[A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically.]
endometrial carcinoma	EFO_1001512	[A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.]
obsolete_Hereditary thrombophilia due to congenital antithrombin deficiency	Orphanet_82
obsolete_Antley-Bixler syndrome	Orphanet_83	[An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).]
obsolete_Fanconi anemia	Orphanet_84	[Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.]
Low anterior hairline	HP_0000294	[Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.]
benign neoplasm of pituitary gland	MONDO_0021439	[A benign neoplasm that involves the pituitary gland.]
obsolete_congenital dyserythropoietic anemia	Orphanet_85
obsolete_familial abdominal aortic aneurysm	Orphanet_86
obsolete_apert syndrome	Orphanet_87
Abnormal circulating serine concentration	HP_0012278	[Any deviation from the normal concentration of serine in the blood circulation.]
Endometrial Squamous Cell Carcinoma	EFO_1000240	[A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells.]
obsolete_congenital absence of both forearm and hand, unilateral	Orphanet_295093
Digital flexor tenosynovitis	HP_0012276	[Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.]
obsolete_congenital absence of thigh and lower leg with foot present, bilateral	Orphanet_295091