TaoMedAI/RareMedData huggingface dataset:
Gene: FLI1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Back pain (HP:0003418)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Abnormal superior cerebellar peduncle morphology (HP:0011932)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Gene: FLI1
Phenotype: Abnormal thoracic spine morphology (HP:0100711)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Gene: FLI1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Gene: FLI1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Vertigo (HP:0002321)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Headache (HP:0002315)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Metrorrhagia (HP:0100608)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Broad columella (HP:0010761)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Abnormal scalp morphology (HP:0001965)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Anemia (HP:0001903)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Ectropion (HP:0000656)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Brain neoplasm (HP:0030692)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Gene: FLI1
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Missing ribs (HP:0000921)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Spinal cord tumor (HP:0010302)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Pruritus (HP:0000989)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Jaundice (HP:0000952)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Gene: FLI1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Alopecia (HP:0001596)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Gene: FLI1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Peripheral primitive neuroectodermal neoplasm (HP:0030067)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Ascites (HP:0001541)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Growth delay (HP:0001510)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Pelvic mass (HP:0031501)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Paris-Trousseau thrombocytopenia (ORPHA:851)
Gene: FLI1
Phenotype: Premature birth (HP:0001622)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Annular pancreas (HP:0001734)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Microcornea (HP:0000482)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Torticollis (HP:0000473)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Short neck (HP:0000470)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Webbed neck (HP:0000465)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Long hallux (HP:0001847)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Proptosis (HP:0000520)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Weight loss (HP:0001824)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Ptosis (HP:0000508)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Short toe (HP:0001831)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Gene: FLI1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Talipes (HP:0001883)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Upper limb pain (HP:0012513)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Gene: FLI1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLII
Phenotype: Broad palm (HP:0001169)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Iris nodule (HP:0034819)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Seizure (HP:0001250)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Hypotonia (HP:0001252)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Polyembolokoilamania (HP:0032508)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Onychotillomania (HP:0032509)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, 2J (OMIM:620635)
Gene: FLII
Phenotype: Scoliosis (HP:0002650)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Open mouth (HP:0000194)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)