TaoMedAI/RareMedData huggingface dataset:
Gene: DST
Phenotype: Absent corneal reflex (HP:0034252)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Hypertension (HP:0000822)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Stridor (HP:0010307)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 (OMIM:615425)
Gene: DST
Phenotype: Hyperpyrexia (HP:0033031)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 (OMIM:615425)
Gene: DST
Phenotype: High palate (HP:0000218)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Aspiration (HP:0002835)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Growth delay (HP:0001510)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Tachycardia (HP:0001649)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Short chin (HP:0000331)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Bradycardia (HP:0001662)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Breech presentation (HP:0001623)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Alacrima (HP:0000522)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 (OMIM:615425)
Gene: DST
Phenotype: Corneal scarring (HP:0000559)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: DST
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
Gene: FOXL2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: PREMATURE OVARIAN FAILURE 3 (OMIM:608996)
Gene: FOXL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PREMATURE OVARIAN FAILURE 3 (OMIM:608996)
Gene: FOXL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Decreased fertility (HP:0000144)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Amenorrhea (HP:0000141)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Lacrimal gland aplasia (HP:0007656)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Supernumerary lacrimal punctum (HP:0032514)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Streak ovary (HP:0010464)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Decreased circulating progesterone (HP:0008233)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Female infertility (HP:0008222)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Female infertility (HP:0008222)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PREMATURE OVARIAN FAILURE 3 (OMIM:608996)
Gene: FOXL2
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Ectopic lacrimal punctum (HP:0010748)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Nystagmus (HP:0000639)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Nystagmus (HP:0000639)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Amblyopia (HP:0000646)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Ectropion (HP:0000656)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Abnormality of the breast (HP:0000769)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Abnormal lacrimal duct morphology (HP:0011481)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PREMATURE OVARIAN FAILURE 3 (OMIM:608996)
Gene: FOXL2
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Punctal stenosis (HP:0025572)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Lacrimal gland hypoplasia (HP:0007732)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Microcephaly (HP:0000252)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: High palate (HP:0000218)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: S-shaped palpebral fissures (HP:0007835)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Cupped ear (HP:0000378)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Low-set ears (HP:0000369)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Short philtrum (HP:0000322)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Strabismus (HP:0000486)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Strabismus (HP:0000486)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Microcornea (HP:0000482)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Telecanthus (HP:0000506)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Telecanthus (HP:0000506)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Ptosis (HP:0000508)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Ptosis (HP:0000508)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: FOXL2
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Gene: FOXL2
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: BPES plus; Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome (ORPHA:572333)
Gene: BPGM
Phenotype: Reduced erythrocyte bisphosphoglycerate mutase activity (HP:6000557)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 8 (OMIM:222800)
Gene: BPGM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 8 (OMIM:222800)
Gene: BPGM
Phenotype: Adult onset (HP:0003581)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 8 (OMIM:222800)
Gene: BPGM
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 8 (OMIM:222800)
Gene: BPGM
Phenotype: Polycythemia (HP:0001901)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 8 (OMIM:222800)
Gene: BPGM
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 8 (OMIM:222800)
Gene: BPGM
Phenotype: Increased hematocrit (HP:0001899)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 8 (OMIM:222800)
Gene: BRCA1
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Spina bifida (HP:0002414)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Peritonitis (HP:0002586)
Associated disease: PPC; Serous surface papillary carcinoma; Primary peritoneal serous carcinoma; EOPPC; Extra-ovarian primary peritoneal carcinoma; Primary peritoneal carcinoma (ORPHA:168829)
Gene: BRCA1
Phenotype: Ataxia (HP:0001251)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Ovarian carcinoma (HP:0025318)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Ovarian carcinoma (HP:0025318)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Neoplasm (HP:0002664)
Associated disease: PPC; Serous surface papillary carcinoma; Primary peritoneal serous carcinoma; EOPPC; Extra-ovarian primary peritoneal carcinoma; Primary peritoneal carcinoma (ORPHA:168829)
Gene: BRCA1
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: BRCA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 (OMIM:604370)
Gene: BRCA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Narrow palate (HP:0000189)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRCA1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 (OMIM:604370)
Gene: BRCA1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: BRCA1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Constipation (HP:0002019)
Associated disease: PPC; Serous surface papillary carcinoma; Primary peritoneal serous carcinoma; EOPPC; Extra-ovarian primary peritoneal carcinoma; Primary peritoneal carcinoma (ORPHA:168829)
Gene: BRCA1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: PPC; Serous surface papillary carcinoma; Primary peritoneal serous carcinoma; EOPPC; Extra-ovarian primary peritoneal carcinoma; Primary peritoneal carcinoma (ORPHA:168829)
Gene: BRCA1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: PPC; Serous surface papillary carcinoma; Primary peritoneal serous carcinoma; EOPPC; Extra-ovarian primary peritoneal carcinoma; Primary peritoneal carcinoma (ORPHA:168829)
Gene: BRCA1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: BRCA1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Anorexia (HP:0002039)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: BRCA1
Phenotype: Anorexia (HP:0002039)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Biliary tract neoplasm (HP:0100574)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: BRCA1
Phenotype: Peritoneal abscess (HP:0100592)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Back pain (HP:0003418)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Gene: BRCA1
Phenotype: Middle age onset (HP:0003596)
Associated disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 (OMIM:604370)
Gene: BRCA1
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Acholic stools (HP:0011985)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: BRCA1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 (OMIM:604370)