Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Myelocystocele	HP_0030709	[Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.]
Unilateral lung agenesis	HP_0030707	[Lack of development of one lung.]
Aplasia/Hypoplasia of the lungs	HP_0006703
Myeloschisis	HP_0030708	[The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.]
Ranula	HP_0030706	[A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location.]
Basilar impression	HP_0005758	[Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.]
Small flat posterior fossa	HP_0005759	[An abnormally small and flat configuration of the posterior cranial fossa.]
Neonatal epiphyseal stippling	HP_0005756	[The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.]
Flattened moderately deformed vertebrae	HP_0005752
trisaccharide derivative	CHEBI_63571	[An oligosaccharide derivative that is formally obtained from a trisaccharide.]
amino oligosaccharide	CHEBI_22483
Fifth finger distal phalanx clinodactyly	HP_0005769	[Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).]
Clinodactyly of the 5th finger	HP_0004209	[Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).]
Subperiosteal bone resorption	HP_0003106	[Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.]
Neurenteric cyst	HP_0030725	[The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.]
Protuberances at ends of long bones	HP_0003105	[The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.]
Spinal neurenteric cyst	HP_0030726	[A neurenteric cyst located in the spine.]
1-2 toe complete cutaneous syndactyly	HP_0005767
Hyperglycinuria	HP_0003108	[An increased concentration of glycine in the urine.]
Congenital megalourethra	HP_0030723	[Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.]