TaoMedAI/RareMedData huggingface dataset:
Gene: AAGAB
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Brain neoplasm (HP:0030692)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Young adult onset (HP:0011462)
Associated disease: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA (OMIM:148600)
Gene: AAGAB
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA (OMIM:148600)
Gene: AAGAB
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA (OMIM:148600)
Gene: AAGAB
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA (OMIM:148600)
Gene: AAGAB
Phenotype: Melanoma (HP:0002861)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA (OMIM:148600)
Gene: AAGAB
Phenotype: Abnormal epidermal morphology (HP:0011124)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Verrucous papule (HP:0012500)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: AAGAB
Phenotype: Pain (HP:0012531)
Associated disease: Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; PPKP1 (ORPHA:79501)
Gene: ANKRD55
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Arthritis (HP:0001369)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Arthritis (HP:0001369)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Joint swelling (HP:0001386)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Abnormal hip joint morphology (HP:0001384)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Myalgia (HP:0003326)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Abnormal metacarpophalangeal joint morphology (HP:0011911)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Synovitis (HP:0100769)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Iridocyclitis (HP:0001094)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Enthesitis (HP:0100686)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Abnormality of the temporomandibular joint (HP:0010754)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Anemia (HP:0001903)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Abnormal shoulder morphology (HP:0003043)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Arthralgia (HP:0002829)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Anterior chamber synechiae (HP:0007833)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Synovial lining hyperplasia (HP:0005186)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Low-grade fever (HP:0011134)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Ankle swelling (HP:0001785)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Cataract (HP:0000518)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Weight loss (HP:0001824)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Abnormal metatarsal morphology (HP:0001832)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Glaucoma (HP:0000501)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Band keratopathy (HP:0000585)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Uveitis (HP:0000554)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: ANKRD55
Phenotype: Uveitis (HP:0000554)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: ANKRD55
Phenotype: Visual loss (HP:0000572)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PALB2
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Spina bifida (HP:0002414)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Ovarian carcinoma (HP:0025318)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 (OMIM:613348)
Gene: PALB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 5 (OMIM:620442)
Gene: PALB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PALB2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Anal atresia (HP:0002023)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Anorexia (HP:0002039)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Peritoneal abscess (HP:0100592)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Back pain (HP:0003418)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)