TaoMedAI/RareMedData huggingface dataset:
Gene: ITGA6
Phenotype: Fragile skin (HP:0001030)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGA6
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGA6
Phenotype: Hypoplastic dermoepidermal hemidesmosomes (HP:0020117)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA (OMIM:619817)
Gene: ITGA6
Phenotype: Hypoplastic dermoepidermal hemidesmosomes (HP:0020117)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGA6
Phenotype: Ectropion (HP:0000656)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGA6
Phenotype: Ectropion (HP:0000656)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGA6
Phenotype: Congenital pyloric atresia (HP:0004399)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGA6
Phenotype: Congenital pyloric atresia (HP:0004399)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA (OMIM:619817)
Gene: ITGA6
Phenotype: Congenital pyloric atresia (HP:0004399)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGA6
Phenotype: Elevated maternal circulating alpha-fetoprotein concentration (HP:0011432)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGA6
Phenotype: Hematuria (HP:0000790)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGA6
Phenotype: Urethrovesical occlusion (HP:0034378)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGA6
Phenotype: Abdominal distention (HP:0003270)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGA6
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGA6
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGA6
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA (OMIM:619817)
Gene: ITGA6
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGA6
Phenotype: Urethral stricture (HP:0012227)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGA6
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGA6
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGA6
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGA6
Phenotype: Death in infancy (HP:0001522)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGA6
Phenotype: Anonychia (HP:0001798)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGA6
Phenotype: Intestinal atresia (HP:0011100)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: IREB2
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Poor head control (HP:0002421)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Hypochromic anemia (HP:0001931)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IREB2
Phenotype: Ptosis (HP:0000508)
Associated disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Gene: IRF1
Phenotype: Histoplasmosis (HP:0032256)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Disseminated nontuberculous mycobacterial infection (HP:0032283)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Decreased naive CD8 T cell proportion (HP:0410377)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Increased CD8+ TEMRA T cell proportion (HP:0500265)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Pustular rash (HP:0033605)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Clubbing (HP:0001217)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: IRF1
Phenotype: Stomach cancer (HP:0012126)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: IRF1
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: IRF1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: IRF1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: IRF1
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Pneumonia (HP:0002090)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: BCGitis (HP:0020086)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: BCGosis (HP:0020087)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Positive Mycobacterium avium sputum culture (HP:0430108)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Axillary lymphadenopathy (HP:0034752)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Fever (HP:0001945)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: IRF1
Phenotype: Sinusitis (HP:0000246)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: IRF1
Phenotype: Increased effector memory CD8+ T cell proportion (HP:0410395)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Decreased central memory CD8+ T cell proportion (HP:0410389)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: IRF1
Phenotype: Increased transitional B cell proportion (HP:0030381)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Gene: IRF3
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 (OMIM:616532)
Gene: IRF3
Phenotype: Nuchal rigidity (HP:0031179)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 (OMIM:616532)
Gene: IRF3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 (OMIM:616532)
Gene: IRF3
Phenotype: CSF lymphocytic pleiocytosis (HP:0200149)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 (OMIM:616532)
Gene: IRF3
Phenotype: Headache (HP:0002315)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 (OMIM:616532)
Gene: IRF3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 (OMIM:616532)
Gene: IRF3
Phenotype: Herpes simplex encephalitis (HP:0012302)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 (OMIM:616532)
Gene: IRF4
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Galactorrhea (HP:0100829)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Seizure (HP:0001250)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Ataxia (HP:0001251)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Arthritis (HP:0001369)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Myoclonus (HP:0001336)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Hypotension (HP:0002615)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Malabsorption (HP:0002024)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Myalgia (HP:0003326)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Diarrhea (HP:0002014)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Anorexia (HP:0002039)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Pleuritis (HP:0002102)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Chest pain (HP:0100749)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Developmental regression (HP:0002376)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Myositis (HP:0100614)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Pedal edema (HP:0010741)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Fever (HP:0001945)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Polydipsia (HP:0001959)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Anemia (HP:0001903)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Cachexia (HP:0004326)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Cough (HP:0012735)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Depression (HP:0000716)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Myocarditis (HP:0012819)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Arthralgia (HP:0002829)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Fatigue (HP:0012378)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Pericarditis (HP:0001701)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Proptosis (HP:0000520)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF4
Phenotype: Uveitis (HP:0000554)
Associated disease: Whipple disease; Intestinal lipodystrophy (ORPHA:3452)
Gene: IRF5
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Narrow foramen obturatorium (HP:0100958)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Narrow foramen obturatorium (HP:0100958)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: IRF5
Phenotype: Xanthelasma (HP:0001114)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: IRF5
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: IRF5
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IRF5
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)