Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete Small scrotum	HP_0030276
hair cell anterior macula	ZFA_0000678	[Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)]
polyglucosan body myopathy 1 with or without immunodeficiency	MONDO_0014389	[A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.]
familial median cleft of the upper and lower lips	MONDO_0014388	[Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.]
tall stature-intellectual disability-facial dysmorphism syndrome	MONDO_0014382	[A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.]
hyomandibula	ZFA_0000672	[The hyomandibula is the large, dorsal-most member of the hyoid arch. It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints. A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle.]
platelet-type bleeding disorder 18	MONDO_0014386	[Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.]
scapula	UBERON_0006849	[Endochondral bone that is dorsoventrally compressed and provides attachment site for muscles of the pectoral appendage.]
pole plasm	FBbt_00004891	[Specialized region of the female egg cytoplasm characterized by the presence of dense organelles (polar granules).]
obsolete_trisomy 10p	Orphanet_171929
swim bladder	UBERON_0006860	[A thin membranous, sometimes alveolated sac in the dorsal portion of the abdominal cavity. Contains a varying mixture of gases, not identical to the composition of air. May be one, two or three chambered. May be connected to the gut by a tube, the ductus pneumaticus (then called physostomous) or unconnected (then called physoclistous).]
Macroptilium atropurpureum	NCBITaxon_90550
severe combined immunodeficiency due to CTPS1 deficiency	MONDO_0014391	[Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.]
combined oxidative phosphorylation defect type 20	MONDO_0014397	[Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.]
metaphysis of femur	UBERON_0006865	[A metaphysis that is part of a femur.]
diaphysis of femur	UBERON_0006862	[A diaphysis that is part of a femur[Automatically generated definition].]
kidney pyramid	UBERON_0004200	[Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts.]
cortical collecting duct	UBERON_0004203	[The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex.]
cortex of kidney	UBERON_0001225	[Outer cortical portion of the kidney, between the renal capsule and the renal medulla.]
collecting duct of renal tubule	UBERON_0001232	[The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient.]