Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Charcot-Marie-Tooth disease dominant intermediate F	MONDO_0014074	[Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.]
autosomal dominant intermediate Charcot-Marie-Tooth disease	MONDO_0019548	[Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.]
Narrow nose	HP_0000460	[Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.]
Delayed myelination	HP_0012448	[Delayed myelination.]
Abnormal myelination	HP_0012447	[Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.]
D,L-2-hydroxyglutaric aciduria	MONDO_0014072	[D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.]
2-hydroxyglutaric aciduria	MONDO_0016001	[2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.]
inflorescence meristem	PO_0000230	[A meristem that gives rise to an inflorescence.]
inflorescence	PO_0009049	[A reproductive shoot system (PO:0025082) that has as parts all of the shoot axes (PO:0025029) distal to the most distal foliage leaf (PO:0009025) of a shoot axis and all of the flowers (PO:0009046) borne by those axes. Must have two or more flowers as parts.]
obsolete_hereditary isolated aplastic anemia	Orphanet_397692
platelet-type bleeding disorder 15	MONDO_0014078	[Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.]
autosomal dominant macrothrombocytopenia	MONDO_0015372	[This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.]
obsolete_3q27.3 microdeletion syndrome	Orphanet_397695
cobblestone lissencephaly without muscular or ocular involvement	MONDO_0014077	[Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.]
obsolete_primary qualitative or quantitative defects of alpha-dystroglycan	Orphanet_371040
dyskeratosis congenita, autosomal recessive 5	MONDO_0014076	[A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.]
dyskeratosis congenita	MONDO_0015780	[Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.]
Abnormal biliary tract morphology	HP_0012440	[A structural abnormality of the biliary tree.]
oculocutaneous albinism type 7	MONDO_0014070	[Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.]
Atrophy/Degeneration affecting the central nervous system	HP_0007367