TaoMedAI/RareMedData huggingface dataset:
Gene: AIRE
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Anti-reticulin antibody positivity (HP:4000030)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Anti-side-chain cleavage enzyme antibody positivity (HP:0034055)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Anti-side-chain cleavage enzyme antibody positivity (HP:0034055)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Anti-21-hydroxylase antibody positivity (HP:0034071)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Anti-21-hydroxylase antibody positivity (HP:0034071)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Decreased circulating parathyroid hormone level (HP:0031817)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Optic atrophy (HP:0000648)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Photophobia (HP:0000613)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Alopecia (HP:0001596)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Alopecia (HP:0001596)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Onychomycosis (HP:0012203)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Autoimmunity (HP:0002960)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Pancreatitis (HP:0001733)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Asplenia (HP:0001746)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Asplenia (HP:0001746)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Cataract (HP:0000518)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Cataract (HP:0000518)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: AIRE
Phenotype: Nail pits (HP:0001803)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Uveitis (HP:0000554)
Associated disease: APECED syndrome; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome; Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; APS type 1; MEDAC syndrome; Autoimmune polyendocrinopathy type 1; Multiple endocrine deficiency-Addison disease-candidiasis syndrome; Autoimmune polyglandular syndrome type 1; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Autoimmune polyendocrine syndrome type 1; HAM syndrome; APS1 (ORPHA:3453)
Gene: BIRC3
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Posterior uveitis (HP:0012123)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Constipation (HP:0002019)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Fever (HP:0001945)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Anemia (HP:0001903)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Fatigue (HP:0012378)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Weight loss (HP:0001824)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: BIRC3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Mucosa-associated lymphatic tissue lymphoma; Extranodal marginal zone B-cell lymphoma; MALT lymphoma; MALToma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Gene: XIAP
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Increased total lymphocyte count (HP:0100827)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Meningitis (HP:0001287)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Colitis (HP:0002583)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Colitis (HP:0002583)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Hepatic failure (HP:0001399)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Hepatic failure (HP:0001399)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Arthritis (HP:0001369)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Lymphoma (HP:0002665)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Vasculitis (HP:0002633)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Hepatitis (HP:0012115)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Hepatitis (HP:0012115)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Nephritis (HP:0000123)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Recurrent infections (HP:0002719)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Recurrent infections (HP:0002719)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: X-linked lymphoproliferative syndrome type 2; XIAP deficiency syndrome; XLP2; X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934)
Gene: XIAP
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Fulminant hepatitis (HP:0004787)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: XIAP
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 (OMIM:300635)
Gene: XIAP
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)