Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Osteopetrosis - hypogammaglobulinemia	Orphanet_178389
lymphedema-cerebral arteriovenous anomaly syndrome	MONDO_0007917	[Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.]
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	MONDO_0007918	[Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.]
congenital macroglossia	MONDO_0007927
Bannayan-Riley-Ruvalcaba syndrome	MONDO_0007924	[Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.]
lymphedema-distichiasis syndrome	MONDO_0007922	[Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.]
lymphatic malformation 5	MONDO_0007920	[A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.]
cells per milliliter	UO_0000201	[A unit of cell concentration which is equal to one cell in a volume of 1 milliliter.]
cell concentration unit	UO_0000200	[A concentration unit which denotes the average cell number in a given volume.]
maternal uniparental disomy of chromosome 14	MONDO_0019915	[Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).]
maternal uniparental disomy of chromosome 9	MONDO_0019914	[Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.]
obsolete_partial trisomy/tetrasomy of chromosome 5	Orphanet_262211
maternal uniparental disomy of chromosome 20	MONDO_0019917	[Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.]
obsolete_Smith-McCort dysplasia	Orphanet_178355
maternal uniparental disomy of chromosome 16	MONDO_0019916
deciliter	UO_0000209	[A volume unit which is equal to one tenth of a liter or 10^[-1] L., A deciliter is a volume unit which is equal to one tenth of a liter or 10^-1 L.]
maternal uniparental disomy of chromosome 4	MONDO_0019911	[Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.]
maternal uniparental disomy of chromosome 2	MONDO_0019910	[Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.]
milliliter per liter	UO_0000207	[A milliliter per liter is a unit of concentrationdefined as a volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution., A volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution.]
silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	MONDO_0019913	[Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).]