Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
hypoglossia-hypodactyly syndrome	MONDO_0007073	[Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.]
Nicotiana tabacum	NCBITaxon_4097
obsolete partial autosomal trisomy/tetrasomy	MONDO_0020052
obsolete total autosomal trisomy	MONDO_0020051
obsolete autosomal trisomy	MONDO_0020050
obsolete_Pearson syndrome	Orphanet_699
obsolete gonosome number anomaly	MONDO_0020059
Falco rusticolus	NCBITaxon_120794
obsolete uniparental disomy of paternal origin	MONDO_0020057
GM17295	CLO_0013127	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
obsolete uniparental disomy of maternal origin	MONDO_0020056
pseudohypoparathyroidism type 1A	MONDO_0007078	[Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).]
obsolete autosomal uniparental disomy	MONDO_0020055
obsolete partial autosomal monosomy	MONDO_0020054
Drosophila santomea	NCBITaxon_129105
GM17296	CLO_0013124	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
Tietz syndrome	MONDO_0007077	[Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.]
obsolete total autosomal monosomy	MONDO_0020053
alopecia-epilepsy-pyorrhea-intellectual disability syndrome	MONDO_0007085	[Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.]
autosomal dominant Alport syndrome	MONDO_0007086	[Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.]