Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
acquired prothrombin deficiency	MONDO_0016990	[An instance of prothrombin deficiency that is acquired during the lifetime of the individual.]
periosteal chondroma	MONDO_0002359	[A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.]
Generalized pseudohypoaldosteronism type 1	Orphanet_171876
benign laryngeal neoplasm	MONDO_0002354	[A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma.]
glottis carcinoma	MONDO_0002355	[A carcinoma that arises from epithelial cells of the glottis.]
glottis cancer	MONDO_0002351	[A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas.]
obsolete_isolated agammaglobulinemia	Orphanet_229717
glottis neoplasm	MONDO_0002353	[A benign or malignant neoplasm that affects the glottic area of the larynx.]
nicotinic acid	CHEBI_15940
short stature with microcephaly and distinctive facies	MONDO_0014347
Streptomyces microflavus	NCBITaxon_1919
pontocerebellar hypoplasia type 10	MONDO_0014349	[Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.]
Genetic hyperferritinemia without iron overload	Orphanet_254704
obsolete_macroglossia	Orphanet_156207
female infertility due to zona pellucida defect	MONDO_0014342	[Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.]
Otomandibular dysplasia associated with monogenic syndromes	Orphanet_156202
cystadenoma	MONDO_0002369	[A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas.]
Blindness-scoliosis-arachnodactyly syndrome	Orphanet_171844
papillary serous cystadenocarcinoma	MONDO_0002368	[A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.]
serous cystadenocarcinoma	MONDO_0024621	[A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures.]