Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_spondyloepiphyseal dysplasia, Kimberley type	Orphanet_93283
Spondyloepimetaphyseal dysplasia, Pakistani type	Orphanet_93282
autosomal recessive osteopetrosis 3	MONDO_0009818	[Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.]
primary renal tubular acidosis	MONDO_0017828
autosomal recessive osteopetrosis 2	MONDO_0009816	[Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.]
autosomal recessive osteopetrosis 1	MONDO_0009815	[Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.]
osteopenia-intellectual disability-sparse hair syndrome	MONDO_0009814	[Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.]
autosomal recessive distal osteolysis syndrome	MONDO_0009810	[Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.]
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome	Orphanet_404476
obsolete_severe intellectual disability-progressive spastic diplegia syndrome	Orphanet_404473
3-Indolepropionic acid to LysoPC 16:0 ratio	EFO_0021697	[Quantification of the ratio of 3-Indolepropionic acid to LysoPC 16:0 ratio in a sample.]
D-Arabinose to 3-Indolepropionic acid ratio	EFO_0021696	[Quantification of the ratio of D-Arabinose to 3-Indolepropionic acid ratio in a sample.]
3-Indolepropionic acid to LysoPC 18:1 ratio	EFO_0021699	[Quantification of the ratio of 3-Indolepropionic acid to LysoPC 18:1 ratio in a sample.]
L-Threonine to 3-Indolepropionic acid ratio	EFO_0021698	[Quantification of the ratio of L-Threonine to 3-Indolepropionic acid ratio in a sample.]
Asp-phe to 3-Indolepropionic acid ratio	EFO_0021693	[Quantification of the ratio of Asp-phe to 3-Indolepropionic acid ratio in a sample.]
3-Indolepropionic acid to L-Valine ratio	EFO_0021692	[Quantification of the ratio of 3-Indolepropionic acid to L-Valine ratio in a sample.]
3-Indolepropionic acid to 3,3',5-Triiodo-L-thyronine ratio	EFO_0021695	[Quantification of the ratio of 3-Indolepropionic acid to 3,3',5-Triiodo-L-thyronine ratio in a sample.]
obsolete_citrullinemia type I	Orphanet_247525
L-Histidine to 3-Indolepropionic acid ratio	EFO_0021694	[Quantification of the ratio of L-Histidine to 3-Indolepropionic acid ratio in a sample.]
Primary ciliary dyskinesia - retinitis pigmentosa	Orphanet_247522	[Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.]