Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Congenital ichthyosis - intellectual disability - spastic quadriplegia	Orphanet_352333
Autosomal ichthyosis syndrome with prominent neurologics signs	Orphanet_281238
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	Orphanet_352306
quiescent center	PO_0020149	[A portion of meristem tissue (PO:0009013) that is part of a root apical meristem (PO:0020147) and consists of mitotically and metabolically inactive cells and is located behind the protoderm (PO:0006210) of the root (PO:0009005).]
root apical meristem	PO_0020147
autosomal recessive limb-girdle muscular dystrophy type 2J	MONDO_0012127	[Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.]
portion of meristem tissue	PO_0009013	[Undifferentiated plant issue - the botanical equivalent of animal stem cells, A formative plant tissue usually made up of small cells capable of dividing indefinitely and giving rise to similar cells or to cells that differentiate to produce the definitive tissues and organs., A portion of plant tissue (PO:0009007) in which plant cells (PO:0009002) have retained their embryonic characteristics, or have reverted to them secondarily, and that divide to produce new cells that can undergo differentiation to form mature tissues, i.e. they have a capacity for morphogenesis and growth., Meristem is a plant component consisting of undifferentiated plant issue - the botanical equivalent of animal stem cells.]
apical meristem	PO_0020144	[A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025).]
shoot component	EFO_0001948	[A shoot component is a plant component which is specifically part of a plant shoot.]
pyruvate dehydrogenase phosphatase deficiency	MONDO_0012120	[Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.]
pyruvate dehydrogenase deficiency	MONDO_0019169	[Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.]
stem internode	PO_0020142	[A shoot internode that is part of a stem.]
stem	PO_0009047	[A shoot axis (PO:0025029) that is the primary axis of a plant.]
stem node	PO_0020141	[A shoot node that is part of a stem.]
neoplastic polyp	MONDO_0021075
mosaic variegated aneuploidy syndrome	MONDO_0000141	[Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.]
carnitine palmitoyl transferase II deficiency, neonatal form	MONDO_0012136	[The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.]
carnitine palmitoyltransferase II deficiency	MONDO_0015515	[Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.]
exercise intolerance, riboflavin-responsive	MONDO_0014795
Carney complex - trismus - pseudocamptodactyly syndrome	MONDO_0012137	[Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).]