Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
intermediate epitheliocyte	CL_0002209	[An epithelial cell present in the trachea and bronchi; columnar in shape; generally lack cilia; immature forms of ciliated or secretory cells which have been formed from stem cells.]
Broad-based gait	HP_0002136	[An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.]
Multiple small bowel atresias	HP_0004797	[The presence of multiple areas of atresia affecting the small intestine.]
Rectoperineal fistula	HP_0004792	[The presence of a fistula between the perineum and the rectum.]
Esophageal ulceration	HP_0004791	[Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.]
acinar cell of sebaceous gland	CL_0002140	[A sebum secreting cell of the skin that secretes sebum into the hair follicles.]
Malrotation of small bowel	HP_0004794	[A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.]
Episodic ataxia	HP_0002131	[Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. ]
Porencephalic cyst	HP_0002132	[A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.]
Hypoplasia of the small intestine	HP_0004790	[Underdevelopment of the small intestine.]
Hyperuricemia	HP_0002149	[An abnormally high level of uric acid in the blood.]
Tethered cord	HP_0002144	[During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.]
Gait imbalance	HP_0002141
Desmin bodies	HP_0100300
Muscle fiber tubular inclusions	HP_0100301	[Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.]
Muscle fiber tubuloreticular inclusions	HP_0100302
Muscle fiber intranuclear inclusion bodies	HP_0100304	[The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.]
Ring fibers	HP_0100305	[Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation.]
Muscle fiber hyaline bodies	HP_0100306
Cerebellar hemisphere hypoplasia	HP_0100307