Phenotypes associated with the disease Infantile myofibromatosis (ORPHA:2591):
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2591)
- Gingival fibromatosis (HP:0000169): The presence of fibrosis of the gingiva. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2591)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2591)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2591)
- Abnormal thorax morphology (HP:0000765): Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2591)
- Abnormal skull morphology (HP:0000929): An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2591)
- Chondrocalcinosis (HP:0000934): Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2591)
- Abnormal metaphysis morphology (HP:0000944): An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2591)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2591)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2591)
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2591)
- Abnormal intestine morphology (HP:0002242): An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2591)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2591)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2591)
- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2591)
- Abnormality of the musculature (HP:0003011): Abnormality originating in one or more muscles, i.e., of the set of muscles of body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2591)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2591)
- Hemiplegia/hemiparesis (HP:0004374): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2591)
- Abnormal sacrum morphology (HP:0005107): An abnormality of the sacral bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2591)
- Intestinal obstruction (HP:0005214): Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2591)
- Irregular hyperpigmentation (HP:0007400). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2591)
- Neoplasm of the skin (HP:0008069): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2591)
- Fibroma (HP:0010614): Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2591)
- Bone cyst (HP:0012062): A fluid filled cavity that develops with a bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2591)
- Sarcoma (HP:0100242): A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2591)
- Neoplasm of the lung (HP:0100526): Tumor of the lung. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2591)
- Benign neoplasm of the central nervous system (HP:0100835). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2591)
- Skin ulcer (HP:0200042): 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). (ORPHA:2591)