Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
primary ciliary dyskinesia	MONDO_0016575	[A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).]
split hand-foot malformation	MONDO_0016576	[Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.]
split hand or/and split foot malformation	MONDO_0017423
embryonic ventral apodeme	FBbt_00005749	[Ventral halve of an embryonic apodeme. The discontinuity between dorsal and ventral halves is visible on a lateral view.]
macrocephaly-short stature-paraplegia syndrome	MONDO_0016571	[Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.]
central bilateral macrogyria	MONDO_0016572	[Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.]
cerebral cortical dysplasia	MONDO_0017094	[Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.]
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome	Orphanet_363992
obsolete_hereditary inclusion body myopathy type 4	Orphanet_324381
cor pulmonale	MONDO_0004596	[Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism.]
vulva sarcoma	EFO_0002920	[A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.]
vulva cancer	MONDO_0001528	[A primary or metastatic malignant neoplasm involving the vulva.]
Bartholin duct cyst	MONDO_0004593	[Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice.]
obsolete_alpha-1-antitrypsin deficiency	EFO_0002946	[A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales.]
postnatal	EFO_0002948	[The stage of the mother from immediately after the birth of offspring and extending for about six weeks, The time period after birth.]
parous	EFO_0002947	[The quality of an organism that has successful reproduced.]
progressive cerebello-cerebral atrophy	MONDO_0016589
obsolete_mixed sclerosing bone dystrophy with extra-skeletal manifestations	Orphanet_324364
mandibuloacral dysplasia	MONDO_0016584	[Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.]
obsolete_osteogenesis imperfecta type 3	Orphanet_216812