Phenotypes associated with the disease Scalp-ear-nipple syndrome (ORPHA:2036):
- Small earlobe (HP:0000385): Reduced volume of the earlobe. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2036)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2036)
- Abnormal scalp morphology (HP:0001965): Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2036)
- Aplasia/Hypoplasia of the nipples (HP:0006709). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2036)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2036)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2036)
- Abnormal antihelix morphology (HP:0009738): An abnormality of the antihelix. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2036)
- Underdeveloped antitragus (HP:0011251): Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2036)
- Underdeveloped tragus (HP:0011272): Decreased posterolateral protrusion of the tragus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2036)
- Breast aplasia (HP:0100783): Failure to develop and congenital absence of the breast. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2036)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2036)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2036)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2036)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2036)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2036)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2036)
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2036)
- Palpebral edema (HP:0100540): Edema in the region of the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2036)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2036)
- Ureteral duplication (HP:0000073): A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2036)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2036)
- Eyelid coloboma (HP:0000625): A short discontinuity of the margin of the lower or upper eyelid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2036)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2036)
- Duplication of renal pelvis (HP:0005580): A duplication of the renal pelvis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2036)
- Pyelonephritis (HP:0012330): An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2036)