Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
posterior lateral line placode	UBERON_2001156
autosomal dominant nonsyndromic hearing loss 2A	MONDO_0010817	[Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.]
posterior lateral line primordium	UBERON_2001157	[A migrating group of cells originating from the posterior lateral line placode. The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail. Gompel et al, 2001.]
Qazi Markouizos syndrome	MONDO_0010816	[Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.]
familial caudal dysgenesis	MONDO_0010831	[Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.]
obsolete_Seckel syndrome	Orphanet_808
obsolete_Scott syndrome	Orphanet_806	[Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.]
Nicotiana benthamiana	NCBITaxon_4100
obsolete_tuberous sclerosis	Orphanet_805
obsolete_citrullinemia type II	Orphanet_247585
obsolete_citrin deficiency	Orphanet_247582
Carcinus maenas	NCBITaxon_6759
CARASIL syndrome	MONDO_0010829	[CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.]
obsolete_Schwartz-Jampel syndrome	Orphanet_800	[Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:Schwartz–Jampel_syndrome]]
hyperimmunoglobulinemia D with periodic fever	MONDO_0009849	[Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).]
pentosuria	MONDO_0009846	[Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.]
pelviscapular dysplasia	MONDO_0009845	[Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.]
pellagra-like syndrome	MONDO_0009844
hypomyelinating leukodystrophy 3	MONDO_0009843	[Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.]
disorder of sex development-intellectual disability syndrome	MONDO_0010824	[Verloes-Gillerot-Fryns syndrome is a rare association of malformations.]