All terms in HP

Label Id Description
Ophthalmoparesis HP_0000597 [Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.]
Cranial nerve paralysis HP_0006824
Levator palpebrae superioris atrophy HP_0012241 [Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.]
Abnormal levator palpebrae superioris morphology HP_3000072 [An abnormality of a levator palpebrae superioris.]
D-proline zwitterion CHEBI_57726 [A D-alpha-amino acid zwitterion that is D-proline in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3.]
Increased intramyocellular lipid droplets HP_0012240 [An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.]
Increased muscle lipid content HP_0009058 [An abnormal accumulation of lipids in skeletal muscle.]
galactonates CHEBI_33778
iron group molecular entity CHEBI_33744
Small face HP_0000274 [A face that is short and narrow.]
Narrow face HP_0000275 [Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).]
Long face HP_0000276 [Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).]
Delayed cranial suture closure HP_0000270 [Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.]
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N-methyl-amino acid CHEBI_21760 [An amino acid derivative in which at least one of the hydrogens of the amino group has been replaced by a methyl group.]
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