All terms in HP
| Label | Id | Description |
|---|---|---|
| Respiratory failure requiring assisted ventilation | HP_0004887 | [A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.] |
| White eyelashes | HP_0002227 | [White color (lack of pigmentation) of the eyelashes.] |
| Abnormal eyelash morphology | HP_0000499 | [An abnormality of the eyelashes.] |
| Episodic respiratory distress | HP_0004885 | |
| Respiratory distress | HP_0002098 | [Difficulty in breathing. 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 | |
| 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 | |
| dermatan sulfate polyanion | CHEBI_58465 | [The conjugate base of dermatan sulfate, obtained by deprotonation of carboxy and sulfate groups.] |
| hematologic agent | CHEBI_50248 | [Drug that acts on blood and blood-forming organs and those that affect the hemostatic system.] |