Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Pallor	HP_0000980	[Abnormally pale skin.]
HTRA1-related cerebral small vessel disease	MONDO_0018831
Stridor	HP_0010307	[Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.]
prostate gland cancer cell	BTO_0001130	[ A malignant tumour cell of glandular origin in the prostate. Over 95% are adenocarcinomas. ]
familial schizencephaly	MONDO_0018829	[An instance of schizencephaly that is caused by an inherited modification of the individual's genome.]
COL4A1 or COL4A2-related cerebral small vessel disease	MONDO_0018788
Pruritus	HP_0000989	[Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.]
Coronatine	CHEBI_80730	[A N-acyl-amino acid that has formula C18H25NO4.]
IgG4-related retroperitoneal fibrosis	MONDO_0018848	[Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.]
IgG4-related disease	MONDO_0017287	[A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.]
rifampicin	CHEBI_28077	[A N-iminopiperazine that has formula C43H58N4O12.]
dentinogenesis imperfecta	MONDO_0018849	[Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.]
hereditary dentin defect	MONDO_0015668	[The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.]
urachal cyst	MONDO_0018844	[Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.]
Autosomal dominant deafness-onychodystrophy syndrome	Orphanet_79499	[Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.]
embryonal carcinoma of the central nervous system	MONDO_0018843	[A embryonal carcinoma that involves the central nervous system.]
central nervous system nongerminomatous germ cell tumor	MONDO_0020574	[Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor.]
obsolete_severe X-linked mitochondrial encephalomyopathy	Orphanet_238329
obsolete_X-linked congenital generalized hypertrichosis	Orphanet_79495	[X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.]
obsolete_disorder of protein O-glycosylation	Orphanet_309447