Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
FL.01 1/4 of flowers open stage	EFO_0005793	[30% of flowers to be produced have opened]
whole plant flowering stage	PO_0007016	[The stage at which any flower(s) on the plant are open.]
HCC461	EFO_0003134
HCC44	EFO_0003133
neonatal abstinence syndrome	EFO_0005799	[A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.]
HCC78	EFO_0003136
branchiogenic deafness syndrome	MONDO_0012209	[Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.]
HCC515	EFO_0003135
HCC95	EFO_0003138
HCC827	EFO_0003137
congenital reticular ichthyosiform erythroderma	MONDO_0012208
inherited non-syndromic ichthyosis	MONDO_0017262	[A inherited ichthyosis that is not part of a larger syndrome.]
Cortical tubers	HP_0009717	[Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.]
HCjE	EFO_0003139
alpha-amanitin	CHEBI_37415	[A heterodetic cyclic peptide that has formula C39H54N10O14S.]
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type	Orphanet_217026	[Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a malformation syndrome with cardiac malformations (see this term) characterized by prenatal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly, craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot (see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.]
Hermansky-Pudlak syndrome 10	MONDO_0014885	[Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.]
obsolete_genetic dementia	Orphanet_158124
alpha-N-acetylgalactosaminidase deficiency type 1	MONDO_0012221	[Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.]
alpha-N-acetylgalactosaminidase deficiency	MONDO_0017779	[Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.]