Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Salivary Gland Adenosquamous Carcinoma	EFO_1000514	[A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component.]
Adenosquamous Carcinoma	EFO_1000073	[A carcinoma composed of malignant glandular cells and malignant squamous cells.]
Cerebellum agenesis - hydrocephaly	Orphanet_1397
Cerebro-reno-digital syndrome	Orphanet_1396
Cerebro-costo-mandibular syndrome	Orphanet_1393	[Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.]
Dysostosis with predominant vertebral and costal involvement	Orphanet_93454
Cerebro-facio-thoracic dysplasia	Orphanet_1394	[Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.]
Secretory Meningioma	EFO_1000522	[A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.]
Sex Hormone-Producing Adrenal Cortex Adenoma	EFO_1000523	[A rare adenoma of the adrenal cortex that produces androgens or estrogens.]
anaplastic cancer	MONDO_0020633
malignant spindle cell neoplasm	MONDO_0020663	[A malignant neoplasm characterized by the presence of atypical spindle cells.]
Sarcomatoid Mesothelioma	EFO_1000521	[A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.]
Gräsbeck-Imerslund disease	Orphanet_35858
Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	Orphanet_98396
obsolete_Richards-Rundle syndrome	Orphanet_1399	[Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.]
obsolete_Sinus Histiocytosis with Massive Lymphadenopathy	EFO_1000528	[A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously.]
Skin Basosquamous Cell Carcinoma	EFO_1000529	[A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases.]
Simple Endometrial Hyperplasia with Atypia	EFO_1000526	[A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present.]
Sinonasal Undifferentiated Carcinoma	EFO_1000527	[A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor.]
Signet Ring Cell Gastric Adenocarcinoma	EFO_1000524	[A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.]