Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
GM17260	CLO_0013182	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
pure hair and nail ectodermal dysplasia	MONDO_0019071	[Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.]
Familial hypocalciuric hypercalcemia type 2	Orphanet_101049
obsolete_Autosomal dominant epilepsy with auditory features	Orphanet_101046
Taussig-Bing syndrome	Orphanet_101042
ACys amyloidosis	MONDO_0007098	[Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.]
obsolete_familial hypofibrinogenemia	Orphanet_101041
post-transplant lymphoproliferative disease	MONDO_0019088	[Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)]
immunodeficiency-associated lymphoproliferative disease	MONDO_0020083
GM17276	CLO_0013199	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
obsolete chromosome X structural anomaly	MONDO_0020062
obsolete chromosome Y structural anomaly	MONDO_0020061
GM17273	CLO_0013197	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
obsolete gonosome structural anomaly	MONDO_0020060
alopecia totalis	MONDO_0019080	[Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.]
Leigh syndrome with cardiomyopathy	MONDO_0019083
GM17274	CLO_0013193	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
Microlissencephaly type B	Orphanet_101052
iron(III) dicitrate	CHEBI_4991	["The complex formed between iron(III) and citrate." []]
isolated diffuse palmoplantar keratoderma	MONDO_0017667	[A diffuse palmoplantar keratoderma that is not part of a larger syndrome.]