Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_familial multiple fibrofolliculoma	Orphanet_338
obsolete_Antenatal Bartter syndrome	Orphanet_93604	[Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome]
obsolete_fibrodysplasia ossificans progressiva	Orphanet_337
obsolete_xanthinuria type II	Orphanet_93602
obsolete_congenital fibrinogen deficiency	Orphanet_335
obsolete_xanthinuria type I	Orphanet_93601
obsolete_familial atrial fibrillation	Orphanet_334
obsolete_primary hyperoxaluria type 3	Orphanet_93600
obsolete_Farber lipogranulomatosis	Orphanet_333
Congenital intrinsic factor deficiency	Orphanet_332	[Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.]
obsolete_congenital factor XIII deficiency	Orphanet_331
endometrial endometrioid adenocarcinoma, variant with squamous differentiation	EFO_1001953	[An endometrioid adenocarcinoma of the endometrium showing squamous differentiation.]
obsolete_congenital factor XII deficiency	Orphanet_330
endometrial adenosquamous carcinoma	EFO_1001952	[A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components.]
obsolete_autosomal dominant distal renal tubular acidosis	Orphanet_93608
obsolete_autosomal recessive proximal renal tubular acidosis	Orphanet_93607
obsolete_nephrogenic syndrome of inappropriate antidiuresis	Orphanet_93606
hilar cholangiocarcinoma	EFO_1001959	[A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts.]
high grade ovarian serous adenocarcinoma	EFO_1001958	[A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures.]
hereditary thyroid gland medullary carcinoma	EFO_1001957	[A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b).]