Phenotypes associated with the disease IgG4-related ophthalmic disease (ORPHA:449563):
- Abnormality of the orbital region (HP:0000315). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Dacryocystitis (HP:0000620): Inflammation of the nasolacrimal sac. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Enlarged lacrimal glands (HP:0007734): Abnormally big lacrimal glands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Abnormal fifth cranial nerve morphology (HP:0010824): Any structural abnormality of the fifth cranial nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Abnormal lacrimal gland morphology (HP:0011482): Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Allergy (HP:0012393): An allergy is an immune response or reaction to substances that are usually not harmful. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Sialadenitis (HP:0031281): Inflammation of a salivary gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Increased circulating IgG4 concentration (HP:0032300): An abnormally increased concentration of the IgG4 subtype in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Periorbital edema (HP:0100539): Edema affecting the region situated around the orbit of the eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Abnormality of infra-orbital nerve (HP:3000061): A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449563)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449563)
- Sinusitis (HP:0000246): Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449563)
- Abnormal eyelid morphology (HP:0000492): An abnormality of the eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449563)
- Abnormality of eye movement (HP:0000496): An abnormality in voluntary or involuntary eye movements or their control. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449563)
- Abnormal optic nerve morphology (HP:0000587): Abnormality of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449563)
- Abnormal lung morphology (HP:0002088): Any structural anomaly of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449563)
- Retroperitoneal fibrosis (HP:0005200). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449563)
- Abnormality of the extraocular muscles (HP:0008049): An abnormality of an extraocular muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449563)
- Mononeuropathy (HP:0009831): A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449563)
- Abnormal ocular adnexa morphology (HP:0030669): A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449563)
- Palpebral edema (HP:0100540): Edema in the region of the eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449563)
- Abnormal morphology of bony orbit of skull (HP:3000030): An abnormality of an orbit of skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449563)
- Prostatitis (HP:0000024): The presence of inflammation of the prostate. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Nasolacrimal duct obstruction (HP:0000579): Blockage of the lacrimal duct. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Colon cancer (HP:0003003). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Abnormality of the anterior pituitary (HP:0011747): An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Non-Hodgkin lymphoma (HP:0012539): A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Cholangitis (HP:0030151): Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Trigeminal anesthesia (HP:0031912): Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Neoplasm of the lung (HP:0100526): Tumor of the lung. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Thyroiditis (HP:0100646): Inflammation of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Trigeminal neuralgia (HP:0100661): A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Orchitis (HP:0100796): Testicular inflammation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)
- Abnormality of the sphenoid sinus (HP:0430022): An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449563)