TaoMedAI/RareMedData huggingface dataset:
Gene: APC
Phenotype: Short philtrum (HP:0000322)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Familial polyposis coli due to monosomy 5q22.2; Familial adenomatous polyposis due to del(5)(q22.2); Colorectal adenomatous polyposis due to monosomy 5q22.2; Familial adenomatous polyposis due to 5q22.2 microdeletion; Familial adenomatous polyposis due to monosomy 5q22.2; FAP due to monosomy 5q22.2 (ORPHA:261584)
Gene: APC
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Familial polyposis coli due to monosomy 5q22.2; Familial adenomatous polyposis due to del(5)(q22.2); Colorectal adenomatous polyposis due to monosomy 5q22.2; Familial adenomatous polyposis due to 5q22.2 microdeletion; Familial adenomatous polyposis due to monosomy 5q22.2; FAP due to monosomy 5q22.2 (ORPHA:261584)
Gene: APC
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Familial polyposis coli due to monosomy 5q22.2; Familial adenomatous polyposis due to del(5)(q22.2); Colorectal adenomatous polyposis due to monosomy 5q22.2; Familial adenomatous polyposis due to 5q22.2 microdeletion; Familial adenomatous polyposis due to monosomy 5q22.2; FAP due to monosomy 5q22.2 (ORPHA:261584)
Gene: APC
Phenotype: Short neck (HP:0000470)
Associated disease: Familial polyposis coli due to monosomy 5q22.2; Familial adenomatous polyposis due to del(5)(q22.2); Colorectal adenomatous polyposis due to monosomy 5q22.2; Familial adenomatous polyposis due to 5q22.2 microdeletion; Familial adenomatous polyposis due to monosomy 5q22.2; FAP due to monosomy 5q22.2 (ORPHA:261584)
Gene: APC
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Large intestinal polyposis (HP:0030255)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Protruding ear (HP:0000411)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: APC
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: APC
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: APC
Phenotype: Small intestine carcinoid (HP:0006722)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Pilomatrixoma (HP:0030434)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Cataract (HP:0000518)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Proptosis (HP:0000520)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Ptosis (HP:0000508)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Absent toenail (HP:0001802)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: Familial polyposis coli due to monosomy 5q22.2; Familial adenomatous polyposis due to del(5)(q22.2); Colorectal adenomatous polyposis due to monosomy 5q22.2; Familial adenomatous polyposis due to 5q22.2 microdeletion; Familial adenomatous polyposis due to monosomy 5q22.2; FAP due to monosomy 5q22.2 (ORPHA:261584)
Gene: AIRE
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Sepsis (HP:0100806)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Atrophic gastritis (HP:0002582)
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: Atrophic gastritis (HP:0002582)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Seizure (HP:0001250)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Primary testicular failure (HP:0008720)
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-endomysial antibody positivity (HP:0033637)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Celiac disease (HP:0002608)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Hypogonadism (HP:0000135)
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: Hypogonadism (HP:0000135)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Hepatitis (HP:0012115)
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: Reduced visual acuity (HP:0007663)
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: Reduced visual acuity (HP:0007663)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Enamel hypoplasia (HP:0006297)
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: Enamel hypoplasia (HP:0006297)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Hypoplastic spleen (HP:0006270)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Nephritis (HP:0000123)
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: Female hypogonadism (HP:0000134)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
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: Malabsorption (HP:0002024)
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: Malabsorption (HP:0002024)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Diarrhea (HP:0002014)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Abnormal circulating calcium-phosphate regulating hormone concentration (HP:0100530)
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 vitamin B12 concentration (HP:0100502)
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: Nasal polyposis (HP:0100582)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Adrenal hyperplasia (HP:0008221)
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: Premature ovarian insufficiency (HP:0008209)
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: Premature ovarian insufficiency (HP:0008209)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Primary adrenal insufficiency (HP:0008207)
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: Infantile onset (HP:0003593)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Anti-GAD65 antibody (HP:5000011)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Nail dystrophy (HP:0008404)
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 dystrophy (HP:0008404)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Chronic active hepatitis (HP:0200120)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Antiparietal cell antibody positivity (HP:6000343)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Alopecia universalis (HP:0002289)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Anti-thyroglobulin antibody positivity (HP:0032069)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Hypopigmented skin patches (HP:0001053)
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: Vitiligo (HP:0001045)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Vitiligo (HP:0001045)
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: Type I diabetes mellitus (HP:0100651)
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: Type I diabetes mellitus (HP:0100651)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Graves disease (HP:0100647)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
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: Keratoconjunctivitis (HP:0001096)
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: Keratoconjunctivitis (HP:0001096)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Iridocyclitis (HP:0001094)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Tympanosclerosis (HP:0020123)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)
Gene: AIRE
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA (OMIM:240300)