Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
ovarian angiosarcoma	MONDO_0003035	[A malignant vascular neoplasm arising from the ovary.]
48,XXYY syndrome	MONDO_0015028	[The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.]
Staphylococcus aureus subsp. aureus RN4220	NCBITaxon_561307
familial isolated hyperparathyroidism	MONDO_0015027	[A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.]
response to interferon beta	GO_0035456	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-beta stimulus. Interferon-beta is a type I interferon.]
disorder of beta and omega amino acid metabolism	MONDO_0017684
vitamin B12-responsive methylmalonic acidemia, type cblDv2	MONDO_0017685
obsolete_reticulate acropigmentation of Kitamura	Orphanet_178307
obsolete_8q22.1 microdeletion syndrome	Orphanet_178303	[The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.]
MYPN-related myopathy	MONDO_0015023	[Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.]
intellectual disability-polydactyly-uncombable hair syndrome	MONDO_0017682	[Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.]
methylcobalamin deficiency type cblDv1	MONDO_0017683
4-hydroxyphenyl retinamide	CHEBI_42588
ovarian large-cell neuroendocrine carcinoma	MONDO_0003049	[A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor.]
Acute infantile liver failure-multisystemic involvement syndrome	Orphanet_370088
lissencephaly with cerebellar hypoplasia type F	MONDO_0015039	[Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.]
lissencephaly with cerebellar hypoplasia type E	MONDO_0015038	[Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia.]
lissencephaly with cerebellar hypoplasia type D	MONDO_0015037	[Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.]
glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	MONDO_0017699
Methanobrevibacter smithii	NCBITaxon_2173