Phenotypes associated with the disease Aplasia cutis-myopia syndrome (ORPHA:1117, an Orphanet rare-disease identifier):
- Abnormality of the skeletal system (HP:0000924, a Human Phenotype Ontology term): An abnormality of the skeletal system. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1117)
- Aplasia cutis congenita (HP:0001057, a Human Phenotype Ontology term): A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:1117)
- Meningitis (HP:0001287, a Human Phenotype Ontology term): Inflammation of the meninges. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1117)
- Calvarial skull defect (HP:0001362, a Human Phenotype Ontology term): A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:1117)
- Abnormal bleeding (HP:0001892, a Human Phenotype Ontology term): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1117)
- Abnormality of coagulation (HP:0001928, a Human Phenotype Ontology term): An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1117)
- Congenital nystagmus (HP:0006934, a Human Phenotype Ontology term): Nystagmus dating from or present at birth. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:1117)
- Abnormal retinal pigmentation (HP:0007703, a Human Phenotype Ontology term): Any deviation from the normal pigmentation of the retina. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:1117)
- High myopia (HP:0011003, a Human Phenotype Ontology term): A severe form of myopia with greater than -6.00 diopters. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:1117)
- Abnormal nervous system morphology (HP:0012639, a Human Phenotype Ontology term): A structural anomaly of the nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1117)
- Skin ulcer (HP:0200042, a Human Phenotype Ontology term): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:1117)