Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hereditary sensory and autonomic neuropathy type 2	MONDO_0019941	[Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.]
obsolete_aromatase excess syndrome	Orphanet_178345
Infantile hypercalcemia	HP_0008250
obsolete_congenital esophageal diverticulum	Orphanet_91358
susceptibility to uveal melanoma	MONDO_0007966
obsolete_duplication of the esophagus	Orphanet_91357
melanoma, cutaneous malignant, susceptibility to, 2	MONDO_0007964	[Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)]
Megalodactyly	MONDO_0007962	[A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.]
obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome	MONDO_0007960
obsolete_interventricular septum	EFO_0001956	[Cardiac septum which separates the right ventricle from the left ventricle., The partition that separates the left ventricle from the right ventricle, consisting of a muscular and a membranous part.]
salivary duct carcinoma	MONDO_0044915	[An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites.]
absorbed dose unit	UO_0000129	[A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue., A derived unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue.]
radiation unit	UO_0000127	[A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source., A derived unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source.]
joint component	EFO_0001958
T-lymphoblastic lymphoma	MONDO_0044917	[The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)]
obsolete_knee joint	EFO_0001957
extrarenal rhabdoid tumor	MONDO_0044916	[A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.]
rigid spine syndrome	MONDO_0019951	[Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.]
intellectual developmental disorder with poor growth and with or without seizures or ataxia	MONDO_0032930
renal pelvis neoplasm	MONDO_0003719	[A neoplasm (disease) that involves the renal pelvis.]