Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Abnormality of the head	HP_0000234	[An abnormality of the head.]
Malar flattening	HP_0000272	[Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.]
N-methyl-amino acid	CHEBI_21760	[An amino acid derivative in which at least one of the hydrogens of the amino group has been replaced by a methyl group.]
amino acid derivative	CHEBI_83821	[Any derivative of an amino acid resulting from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing amino acid residues.]
Facial grimacing	HP_0000273
Disturbance of facial expression	HP_0005324	[An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.]
Absent outer dynein arms	HP_0012256	[Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.]
Absent/shortened dynein arms	HP_0200106
N-methylglycines	CHEBI_21766	[An N-alkylglycine that is sarcosine and derivatives of sarcosine arising by replacement of the hydrogen attached to the nitrogen by a hydrocarbyl group.]
N-alkylglycine	CHEBI_66933	[Any glycine derivative in which glycine is substituted at position 2 by an alkyl group.]
Dynein arm defect of respiratory motile cilia	HP_0012255	[An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.]
Abnormal respiratory motile cilium morphology	HP_0005938	[Abnormal arrangement of the structures of the motile cilium.]
Ewing sarcoma	HP_0012254	[A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.]
regulation of system process	GO_0044057	[Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system.]
Abnormal respiratory epithelium morphology	HP_0012253	[Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.]
Abnormal respiratory system morphology	HP_0012252	[A structural anomaly of the respiratory system.]
digestive system process	GO_0022600	[A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.]
Absent inner and outer dynein arms	HP_0012259	[Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.]
Absent inner dynein arms	HP_0012257	[Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.]
Abnormal axonemal organization of respiratory motile cilia	HP_0012258	[Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms.]