Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
GM17170	CLO_0014022	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
GM17787	CLO_0016685	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
collagen 6-related myopathy	MONDO_0100225	[A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.]
GM17783	CLO_0016684	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17790	CLO_0016687	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
GM17171	CLO_0014024	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
GM17172	CLO_0014025	[SNP500 PANEL HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
GM17785	CLO_0016686	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
LAMA2-related muscular dystrophy	MONDO_0100228	[Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.]
qualitative or quantitative defects of merosin	MONDO_0016149
muscular dystrophy	MONDO_0020121	[Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.]
ALG13-CDG	Orphanet_324422
Congenital disorder of glycosylation with hepatic involvement	Orphanet_371157
Narrow chest	HP_0000774	[Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.]
Abnormality of the diaphragm	HP_0000775	[Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.]
Gynecomastia	HP_0000771	[Abnormal development of large mammary glands in males resulting in breast enlargement.]
Neurodevelopmental delay	HP_0012758	[Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.]
Thermoplasma acidophilum DSM 1728	NCBITaxon_273075
X-linked intellectual disability - cardiomegaly - congestive heart failure	Orphanet_324410
Primary amenorrhea	HP_0000786