Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
oculocutaneous or ocular albinism	MONDO_0020275	[Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism.]
purine ribonucleoside triphosphate metabolic process	GO_0009205	[ The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. ]
purine nucleoside triphosphate metabolic process	GO_0009144	[ The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. ]
maturity-onset diabetes of the young	MONDO_0018911	[MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.]
purine ribonucleoside triphosphate biosynthetic process	GO_0009206	[ The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. ]
purine nucleoside triphosphate biosynthetic process	GO_0009145	[ The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. ]
follicular lymphoma	MONDO_0018906	[Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.]
familial or sporadic hemiplegic migraine	MONDO_0018925	[Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).]
migraine with aura	MONDO_0005475	[A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.]
microphthalmia, Lenz type	MONDO_0018924	[Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.]
human prion disease	MONDO_0018926	[Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).]
Meckel syndrome	MONDO_0018921	[A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.]
22q11.2 deletion syndrome	MONDO_0018923	[22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.]
chromosome 22q deletion	MONDO_0022760
Porphyrinuria	HP_0010473	[Abnormally increased excretion of porphyrins in the urine.]
Ulnar deviation of the hand	HP_0009487	[Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).]
McCune-Albright syndrome	MONDO_0018919	[McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).]
primary bone dysplasia with disorganized development of skeletal components	MONDO_0800089
peripheral precocious puberty	MONDO_0015791	[Precocious puberty caused by sex hormones.]
mucopolysaccharidosis type 4	MONDO_0018938	[Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.]