Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
GM17183	CLO_0013753	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
ovarian follicle stage III	UBERON_2001266	[Stage III (340-690 microns) are vitellogenesis. Selman et al, 1993.]
obsolete hypertelorism, Teebi type	MONDO_0007780
GM17184	CLO_0013752	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
essential hypertension, genetic	MONDO_0007781	[An instance of essential hypertension that is caused by a modification of the individual's genome.]
essential hypertension	MONDO_0001134	[Hypertension that presents without an identifiable cause.]
GM17180	CLO_0013751	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
Charcot-Marie-Tooth disease type 3	MONDO_0007790
congenital communicating hydrocephalus	MONDO_0017116
Renier-Gabreels-Jasper syndrome	MONDO_0019779	[Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).]
Smith-Fineman-Myers syndrome	MONDO_0019778	[Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).]
congenital non-communicating hydrocephalus	MONDO_0017117
Chudley-Lowry-Hoar syndrome	MONDO_0019775	[Chudley-Lowry syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies).]
obsolete Holmes-Gang syndrome	MONDO_0019774	[OBSOLETE. Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).]
CINCA syndrome with NLRP3 mutations	Orphanet_93365
CINCA syndrome	MONDO_0011776	[Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.]
Carpenter-Waziri syndrome	MONDO_0019777	[Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).]
arthrogryposis, distal, type 2B3	MONDO_0032751
cerebellar malformation	MONDO_0015915
Juberg-Marsidi syndrome	MONDO_0019776	[Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).]