Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
myeloproliferative neoplasm, unclassifiable	MONDO_0019452	[This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms.]
lissencephaly with cerebellar hypoplasia	MONDO_0019450	[Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.]
autosomal dominant Kenny-Caffey syndrome	MONDO_0007478	[An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.]
familial Dupuytren contracture	MONDO_0007476	[Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared).]
3-M syndrome	MONDO_0007477	[3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.]
Duane retraction syndrome	MONDO_0007473	[Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.]
cranial nerve and nuclear aplasia	MONDO_0020132
dyschondrosteosis-nephritis syndrome	MONDO_0007482	[Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.]
atrial septal defect, ostium primum type	MONDO_0020437	[Atrioventricular septal defect with communication at the atrial level only.]
atrial septal defect, sinus venosus type	MONDO_0020436
atrial septal defect, coronary sinus type	MONDO_0020435
T-cell large granular lymphocyte leukemia	MONDO_0019469	[T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.]
nodal marginal zone B-cell lymphoma	MONDO_0019465	[Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.]
dysplasia epiphysealis hemimelica	MONDO_0007489	[Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.]
hereditary benign intraepithelial dyskeratosis	MONDO_0007486	[A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.]
dyschromatosis symmetrica hereditaria	MONDO_0007483	[Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.]
early-onset generalized limb-onset dystonia	MONDO_0007492	[A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.]
torsion dystonia 4	MONDO_0007493	[DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).]
carpotarsal osteochondromatosis	MONDO_0007490	[Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.]
hyocholic acid	CHEBI_81244	[A trihydroxy-5beta-cholanic acid in which the three hydroxy substituents are located at the 3alpha-, 6alpha- and 7alpha-positions.]