Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
LP.12 twelve leaves visible stage	PO_0007064	[The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground.]
Charcot-Marie-Tooth disease dominant intermediate C	MONDO_0012012	[Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.]
Weill-Marchesani syndrome 2, dominant	MONDO_0012013	[A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.]
megaspore	PO_0020019	[The larger, in general, of the two kinds of spores produced after meiosis in the life cycle of a heterosporous plant, and on germination giving rise to the female gametophyte (embryo sac).]
spondyloepiphyseal dysplasia, Kimberley type	MONDO_0012019	[Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.]
capillary malformation-arteriovenous malformation syndrome	MONDO_0012016	[This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.]
Parkes Weber syndrome	MONDO_0012017	[Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene, andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb.]
angioosteohypertrophic syndrome	MONDO_0007864	[A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.]
intellectual disability, autosomal dominant 39	MONDO_0014678	[Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.]
LP.17 seventeen leaves visible stage	PO_0007067	[The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground.]
mid rosette growth stage	PO_0007068	[Rosette has reached approximately 50% of its final diameter.]
LP.05 five leaves visible stage	PO_0007065	[The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground.]
neuropathy, hereditary motor and sensory, type 6B	MONDO_0014671	[Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.]
motor peripheral neuropathy	MONDO_0002316	[Inflammation or degeneration of the peripheral motor nerves.]
hereditary motor and sensory neuropathy type 6	MONDO_0019551
febrile seizures, familial	MONDO_0000032
short-rib thoracic dysplasia 14 with polydactyly	MONDO_0014688	[An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.]
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency	Orphanet_352479
LP.18 eighteen leaves visible stage	PO_0007072	[The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground.]
2 formation of axillary shoot stage	PO_0007073	[The stage at which the axillary shoots are forming.]