Facial hypertrichosis
|
HP_0002219 |
[Excessive, increased hair growth located in the facial region.] |
Hypertrichosis
|
HP_0000998 |
[Hypertrichosis is increased hair growth that is abnormal in quantity or location.] |
Silver-gray hair
|
HP_0002218 |
[Hypopigmented hair that appears silver-gray.] |
Generalized hypopigmentation of hair
|
HP_0011358 |
[Reduced pigmentation of hair diffusely.] |
Intermittent episodes of respiratory insufficiency due to muscle weakness
|
HP_0004889 |
|
Respiratory insufficiency due to muscle weakness
|
HP_0002747 |
|
White eyebrow
|
HP_0002226 |
[White color (lack of pigmentation) of the eyebrow.] |
Abnormal eyebrow morphology
|
HP_0000534 |
[An abnormality of the eyebrow.] |
Sparse pubic hair
|
HP_0002225 |
[Reduced number or density of pubic hair.] |
Abnormality of the pubic hair
|
HP_0100133 |
[Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.] |
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 |
[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.] |