Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-linked intellectual disability, Porteous type	MONDO_0019766
Carthamus tinctorius	NCBITaxon_4222
obsolete_spondyloepimetaphyseal dysplasia, Shohat type	Orphanet_93352
terminal transverse defects of arm	MONDO_0019760
obsolete_spondyloepimetaphyseal dysplasia, Irapa type	Orphanet_93351
neutropenia-monocytopenia-deafness syndrome	MONDO_0017100	[Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.]
obsolete_spondyloepimetaphyseal dysplasia with joint laxity	Orphanet_93359
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification	Orphanet_93358
hypertriglyceridemia, familial	MONDO_0007788	[An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome.]
Hypertriglyceridemia	EFO_0004211	[A condition of elevated levels of TRIGLYCERIDES in the blood., A laboratory test result indicating elevated triglyceride concentration in the blood.]
2-hydroxyisobutyrate	CHEBI_19641	[A hydroxy fatty acid anion that is the conjugate base of 2-hydroxyisobutyric acid, arising from deprotonation of the carboxy group; major species at pH 7.3.]
SPONASTRIME dysplasia	Orphanet_93357
obsolete_spondyloepimetaphyseal dysplasia, Missouri type	Orphanet_93356
Ambras type hypertrichosis universalis congenita	MONDO_0007787	[Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.]
ectodermal dysplasia and immunodeficiency 1	MONDO_0020740
selective pituitary resistance to thyroid hormone	MONDO_0007784	[Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.]
ovarian follicle stage I	UBERON_2001263	[Stage I follicles (less than 140 microns) are primary growth stage. Selman et al, 1993.]
GM17181	CLO_0013755	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
GM17182	CLO_0013754	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
ovarian follicle stage II	UBERON_2001265	[Stage II follicles (140-340 microns) are cortical alveolus stage. Selman et al, 1993.]