TaoMedAI/RareMedData huggingface dataset:
Gene: ELANE
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Gene: ELANE
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Cyclic neutropenia (ORPHA:2686)
Gene: ELANE
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Gene: ELANE
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: ELF4
Phenotype: Increased total lymphocyte count (HP:0100827)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Colitis (HP:0002583)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Arthritis (HP:0001369)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Oral ulcer (HP:0000155)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Diarrhea (HP:0002014)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Infantile onset (HP:0003593)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Esophagitis (HP:0100633)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Perianal abscess (HP:0009789)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Fever (HP:0001945)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Recurrent fever (HP:0001954)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Skin rash (HP:0000988)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Chronic gastritis (HP:0005231)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Anoperineal fistula (HP:0005218)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Chronic constipation (HP:0012450)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Weight loss (HP:0001824)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELF4
Phenotype: Decreased proportion of memory B cells (HP:0030374)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Gene: ELN
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Fragmented elastic fibers in the dermis (HP:0025167)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Stroke (HP:0001297)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Syncope (HP:0001279)
Associated disease: Supravalvular aortic stenosis; SVAS (ORPHA:3193)
Gene: ELN
Phenotype: Hypotonia (HP:0001252)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Hypotonia (HP:0001252)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Dysarthria (HP:0001260)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Spasticity (HP:0001257)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Proteinuria (HP:0000093)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Renal duplication (HP:0000075)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Flexion contracture (HP:0001371)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Micropenis (HP:0000054)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Pregnancy history (HP:0002686)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Nystagmus-induced head nodding (HP:0001361)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Functional abnormality of male internal genitalia (HP:0000025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Increased number of skin folds (HP:0007522)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Tremor (HP:0001337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SUPRAVALVULAR AORTIC STENOSIS (OMIM:185500)
Gene: ELN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ELN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Dysmetria (HP:0001310)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Wormian bones (HP:0002645)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Overriding aorta (HP:0002623)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Celiac disease (HP:0002608)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Open mouth (HP:0000194)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Macroglossia (HP:0000158)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Wide mouth (HP:0000154)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ELN
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Portal hypertension (HP:0001409)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Malabsorption (HP:0002024)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Constipation (HP:0002019)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Constipation (HP:0002019)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Vomiting (HP:0002013)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Emphysema (HP:0002097)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Emphysema (HP:0002097)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Dyspnea (HP:0002094)
Associated disease: Supravalvular aortic stenosis; SVAS (ORPHA:3193)
Gene: ELN
Phenotype: Dyspnea (HP:0002094)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)