| C0030436 |
BXGD002221 |
Parakeratosis |
Skin and Connective Tissue Diseases |
| C0033774 |
BXGD002419 |
Pruritus |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0037286 |
BXGD002681 |
Skin Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0162839 |
BXGD003991 |
Porokeratosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0268155 |
BXGD005840 |
Deficiency of galactokinase |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0302319 |
BXGD006838 |
Porokeratosis, Linear |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0342731 |
BXGD007535 |
Deficiency of mevalonate kinase |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases |
| C0349506 |
BXGD007912 |
Photosensitivity of skin |
Skin and Connective Tissue Diseases |
| C0521707 |
BXGD009166 |
Bilateral cataracts (disorder) |
Eye Diseases |
| C0870082 |
BXGD011309 |
Hyperkeratosis |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0949506 |
BXGD011577 |
Porokeratosis of Mibelli |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1969363 |
BXGD016773 |
Middle age onset |
|
| C4024737 |
BXGD021397 |
Aplasia/Hypoplasia of the skin |
|
| C4551705 |
BXGD023397 |
Abnormality of chromosome stability |
|
| C4553962 |
BXGD023553 |
Hyperkeratosis, CTCAE |
|