Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Lung Papilloma	EFO_1000335	[A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction.]
lung benign neoplasm	MONDO_0002732	[A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma.]
papilloma	MONDO_0002363	[A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma.]
anophthalmia/microphthalmia-esophageal atresia syndrome	MONDO_0008799	[Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.]
syndromic esophageal malformation	MONDO_0015208	[A esophageal malformation that is part of a larger syndrome.]
non-acquired combined pituitary hormone deficiency	MONDO_0018762	[Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.]
Lung Sarcomatoid Carcinoma	EFO_1000336	[A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor.]
large cell lung carcinoma	EFO_0003050	[A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection.]
nonsyndromic congenital nail disorder 4	MONDO_0008798	[Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.]
isolated congenital anonychia	MONDO_0019211	[Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.]
Lung Inflammatory Myofibroblastic Tumor	EFO_1000333	[An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.]
inflammatory myofibroblastic tumor	MONDO_0015798	[A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.]
lung carcinoma	EFO_0001071	[A carcinoma that arises from epithelial cells of the lung]
anodontia	MONDO_0008797	[Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.]
Zymoseptoria tritici IPO323	NCBITaxon_336722	[Zymoseptoria tritici IPO323 is one isolate of Zymoseptoria tritici]
Zymoseptoria tritici	NCBITaxon_1047171
obsolete_amyloidosis cutis dyschromia	Orphanet_319635	[A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. PLCA3 inheritance is autosomal recessive. Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. [Orphanet_319635]]
Lung Lymphangioleiomyomatosis	EFO_1000334	[Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.]
lung PEComa	MONDO_0020588	[A lung tumor that arises from perivascular epithelioid cells (PECs).]
lymphangioleiomyomatosis	MONDO_0011705	[A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.]