TaoMedAI/RareMedData huggingface dataset:
Gene: PDE11A
Phenotype: Blue nevus (HP:0100814)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Mental deterioration (HP:0001268)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Ovarian dermoid cyst (HP:0025274)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Tall stature (HP:0000098)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Macroorchidism (HP:0000053)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Ovarian carcinoma (HP:0025318)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Tongue nodules (HP:0000199)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Testicular adrenal rest tumor (HP:0025451)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Moon facies (HP:0500011)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Abnormal hard palate morphology (HP:0100737)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Fibroadenoma of the breast (HP:0010619)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Striae distensae (HP:0001065)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Striae distensae (HP:0001065)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Hirsutism (HP:0001007)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Sertoli cell neoplasm (HP:0100619)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Leydig cell neoplasia (HP:0100618)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Atypical nevi in non-sun exposed areas (HP:0001074)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Neoplasm of the pharynx (HP:0100638)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Gonadal neoplasm (HP:0010785)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Nodular changes affecting the eyelids (HP:0010732)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Spotty hyperpigmentation (HP:0005585)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Increased body weight (HP:0004324)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Schwannoma (HP:0100008)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Anxiety (HP:0000739)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Depression (HP:0000716)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Emotional lability (HP:0000712)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Agitation (HP:0000713)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Psychosis (HP:0000709)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Young adult onset (HP:0011462)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Euthyroid multinodular goiter (HP:0000866)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Hypertension (HP:0000822)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Hypertension (HP:0000822)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Ovarian serous cystadenoma (HP:0012887)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Thin skin (HP:0000963)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Osteopenia (HP:0000938)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Cardiac myxoma (HP:0011672)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Ductal carcinoma in situ (HP:0030075)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Paranasal sinus neoplasm (HP:0030072)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Kyphosis (HP:0002808)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Pigmented micronodular adrenocortical disease (HP:0001580)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Pigmented micronodular adrenocortical disease (HP:0001580)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Primary hypercortisolism (HP:0001579)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Enchondroma (HP:0030038)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Growth abnormality (HP:0001507)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Round face (HP:0000311)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Pancreatitis (HP:0001733)
Associated disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Gene: PDE11A
Phenotype: Increased circulating insulin-like growth factor 1 concentration (HP:0030269)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: PDE11A
Phenotype: Cutaneous myxoma (HP:0030428)
Associated disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Gene: FOXP3
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Dependency on intravenous nutrition (HP:0025156)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Sepsis (HP:0100806)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Meningitis (HP:0001287)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Seizure (HP:0001250)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Colitis (HP:0002583)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Ileus (HP:0002595)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Ileus (HP:0002595)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Decreased circulating prealbumin concentration (HP:0031085)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Arthritis (HP:0001369)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Anti-glutamic acid decarboxylase antibody positivity (HP:0025329)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Crusting erythematous dermatitis (HP:0007473)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Insulin receptor antibody positivity (HP:0031104)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Hepatitis (HP:0012115)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Hepatitis (HP:0012115)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Food allergy (HP:0500093)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Malabsorption (HP:0002024)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Vomiting (HP:0002013)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Anti-liver cytosolic antigen type 1 antibody positivity (HP:0030909)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Pneumonia (HP:0002090)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Coombs-positive hemolytic anemia (HP:0004844)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Urticaria (HP:0001025)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Erythroderma (HP:0001019)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Decreased FOXP3-expressing T cell count (HP:6000473)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Thyroiditis (HP:0100646)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Myositis (HP:0100614)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Severe infection (HP:0032169)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Gene: FOXP3
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: IPEX; Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1 (ORPHA:37042)
Gene: FOXP3
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)