TaoMedAI/RareMedData huggingface dataset:
Gene: ELN
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Gait imbalance (HP:0002141)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Subarachnoid hemorrhage (HP:0002138)
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: Hypercalciuria (HP:0002150)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Myxomatous mitral valve degeneration (HP:0004764)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Pneumothorax (HP:0002107)
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: Hemoptysis (HP:0002105)
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: Vertebral segmentation defect (HP:0003422)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Phonophobia (HP:0002183)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Phonophobia (HP:0002183)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Congenital onset (HP:0003577)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Small bowel diverticula (HP:0002256)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormality of connective tissue (HP:0003549)
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: Premature graying of hair (HP:0002216)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Mucoid extracellular matrix accumulation (HP:0200146)
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: Large earlobe (HP:0009748)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Dural ectasia (HP:0100775)
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: Hernia (HP:0100790)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Insomnia (HP:0100785)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Chest pain (HP:0100749)
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: Abnormal curvature of the vertebral column (HP:0010674)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Abnormal diencephalon morphology (HP:0010662)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Dermal translucency (HP:0010648)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Bronchiolitis (HP:0011950)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Poor wound healing (HP:0001058)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Developmental regression (HP:0002376)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Poor coordination (HP:0002370)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Transient ischemic attack (HP:0002326)
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: Down-sloping shoulders (HP:0200021)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Open bite (HP:0010807)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Hyperacusis (HP:0010780)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hyperacusis (HP:0010780)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Descending thoracic aorta aneurysm (HP:0004959)
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: Incoordination (HP:0002311)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Ascending aortic dissection (HP:0004933)
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: Peripheral arterial stenosis (HP:0004950)
Associated disease: SUPRAVALVULAR AORTIC STENOSIS (OMIM:185500)
Gene: ELN
Phenotype: Peripheral arterial stenosis (HP:0004950)
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: Dilatation of the cerebral artery (HP:0004944)
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: Aortic aneurysm (HP:0004942)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ELN
Phenotype: Abnormal gastric mucosa morphology (HP:0004295)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Abnormal tubulointerstitial morphology (HP:0001969)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Blue irides (HP:0000635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Blue irides (HP:0000635)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Amblyopia (HP:0000646)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Hypotelorism (HP:0000601)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Microdontia (HP:0000691)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Microdontia (HP:0000691)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Carious teeth (HP:0000670)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hypodontia (HP:0000668)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hypodontia (HP:0000668)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Short stature (HP:0004322)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Enuresis (HP:0000805)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: SUPRAVALVULAR AORTIC STENOSIS (OMIM:185500)
Gene: ELN
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: Supravalvular aortic stenosis; SVAS (ORPHA:3193)
Gene: ELN
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Overfriendliness (HP:0100025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Abnormal sternum morphology (HP:0000766)
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: Anxiety (HP:0000739)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Anxiety (HP:0000739)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Short attention span (HP:0000736)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Depression (HP:0000716)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Autism (HP:0000717)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Early onset of sexual maturation (HP:0100000)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Paroxysmal dyspnea (HP:0012763)
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: Nephrolithiasis (HP:0000787)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: SUPRAVALVULAR AORTIC STENOSIS (OMIM:185500)
Gene: ELN
Phenotype: Elfin facies (HP:0004428)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Myopathy (HP:0003198)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Short nose (HP:0003196)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ELN
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hypertension (HP:0000822)
Associated disease: Supravalvular aortic stenosis; SVAS (ORPHA:3193)
Gene: ELN
Phenotype: Hypertension (HP:0000822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hypertension (HP:0000822)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Hypertension (HP:0000822)
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: Hypothyroidism (HP:0000821)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Bruising susceptibility (HP:0000978)
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: Soft skin (HP:0000977)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Gene: ELN
Phenotype: Cutis laxa (HP:0000973)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Cutis marmorata (HP:0000965)
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: Sacral dimple (HP:0000960)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Osteoporosis (HP:0000939)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Osteopenia (HP:0000938)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Osteopenia (HP:0000938)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Osteopenia (HP:0000938)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ELN
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Supravalvular aortic stenosis; SVAS (ORPHA:3193)
Gene: ELN
Phenotype: Flat cornea (HP:0007720)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Epicanthus (HP:0000286)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELN
Phenotype: Retrognathia (HP:0000278)
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: Full cheeks (HP:0000293)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: ELN
Phenotype: Narrow face (HP:0000275)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)