All terms in HP_DEV

Label Id Description
Abnormal eyelash morphology HP_0000499 [An abnormality of the eyelashes.]
Episodic respiratory distress HP_0004885
Respiratory distress HP_0002098 [Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.]
Congenital laryngeal stridor HP_0004886
Absent axillary hair HP_0002221 [Absence of axillary hair.]
Absent hair HP_0002298
Woolly hair HP_0002224 [The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.]
Absent eyebrow HP_0002223 [Absence of the eyebrow.]
Aplasia/Hypoplasia of the eyebrow HP_0100840 [Absence or underdevelopment of the eyebrow.]
Episodic hypoventilation HP_0004881
Hypoventilation HP_0002791 [A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).]
Melanin pigment aggregation in hair shafts HP_0002220
Respiratory infections in early life HP_0004880 [Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.]
dermatan sulfate CHEBI_18376 [Any of a group of glycosaminoglycans with repeating units consisting of variously sulfated beta1->4-linked L-iduronyl-(alpha1->3)-N-acetyl-D-galactosamine units.]
mucopolysaccharide CHEBI_37395 [Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid.]
sulfated glycosaminoglycan CHEBI_35722
obsolete Alopecia areata HP_0002229
5-oxo-D-prolinate CHEBI_57948 [The conjugate base of 5-oxo-D-proline; major species at pH 7.3.]
alpha-amino-acid anion CHEBI_33558 [An amino-acid anion obtained by deprotonation of any alpha-amino acid.]
creatine zwitterion CHEBI_57947 [Zwitterionic form of creatine arising from transfer of a proton from the carboxy to the guanidino group; major species at pH 7.3.]