Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-linked intellectual disability-macrocephaly-macroorchidism syndrome	MONDO_0019419	[X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome.]
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	MONDO_0019416	[X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.]
obsolete_partial duplication of the long arm of chromosome 15	Orphanet_262950
Young adult-onset Parkinsonism	Orphanet_2828	[Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.]
shone complex	MONDO_0020404	[A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis.]
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome	MONDO_0019418	[X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.]
Spastic paraplegia - precocious puberty	Orphanet_2826
X-linked intellectual disability-precocious puberty-obesity syndrome	MONDO_0019417	[X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked.]
dysspondyloenchondromatosis	MONDO_0019412	[Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.]
genochondromatosis type 1	MONDO_0019411	[Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.]
BRESEK syndrome	MONDO_0019414	[X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).]
ischio-vertebral syndrome	MONDO_0019413	[Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.]
Pseudonocardia dioxanivorans	NCBITaxon_240495
Bdellovibrio bacteriovorus HD100	NCBITaxon_264462
dentin dysplasia-sclerotic bones syndrome	MONDO_0007438	[Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.]
Aplysia californica	NCBITaxon_6500
dentin dysplasia type I	MONDO_0007436	[Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.]
dentin dysplasia	MONDO_0015613	[Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.]
dentin dysplasia type II	MONDO_0007437	[Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.]
obsolete_PARC syndrome	Orphanet_2825