특성

ELN 연관 특성

elastin

인간 표현형 온톨로지가 ELN에 연결하는 특성은 312개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the cardiovascular system

특성	나타나는 빈도
Narrowing of peripheral lung artery	항상
Abnormal heart rate	매우 자주 (80–99%)
Abnormality of the cardiovascular system	매우 자주 (80–99%)
Cutis marmorata	매우 자주 (80–99%)
Mucoid extracellular matrix accumulation	매우 자주 (80–99%)
Supravalvular aortic stenosis	매우 자주 (80–99%)
Abnormal left ventricular function	자주 (30–79%)
Abnormality of the cerebral blood vessels	자주 (30–79%)
Angina pectoris	자주 (30–79%)
Aortic regurgitation	자주 (30–79%)
Ascending aortic dissection	자주 (30–79%)
Bulge in wall of large artery that carries blood away from heart	자주 (30–79%)
Cardiac failure	자주 (30–79%)
Descending aortic dissection	자주 (30–79%)
Disruption of blood oxygen supply to brain	자주 (30–79%)
Enlarged heart	자주 (30–79%)
Fainting spell	자주 (30–79%)
High blood pressure	자주 (30–79%)
Hole in heart wall separating two lower heart chambers	자주 (30–79%)
Mitral regurgitation	자주 (30–79%)
Mitral valve prolapse	자주 (30–79%)
Narrowing of an artery	자주 (30–79%)
Narrowing of coronary artery	자주 (30–79%)
Narrowing of pulmonic valve	자주 (30–79%)
Plaque build-up in arteries supplying blood to heart	자주 (30–79%)
Renovascular hypertension	자주 (30–79%)
Stroke	자주 (30–79%)
Systolic heart murmur	자주 (30–79%)
Abdominal aortic aneurysm	가끔 (5–29%)
Abnormal cardiac septum morphology	가끔 (5–29%)
Abnormal carotid artery morphology	가끔 (5–29%)
Abnormal endocardium morphology	가끔 (5–29%)
An opening in the wall separating the top two chambers of the heart	가끔 (5–29%)
Aortic arch aneurysm	가끔 (5–29%)
Aortic valve has two leaflets rather than three	가끔 (5–29%)
Brain aneurysm	가끔 (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	가끔 (5–29%)
Carotid artery dilatation	가끔 (5–29%)
Depleted blood volume	가끔 (5–29%)
Descending thoracic aorta aneurysm	가끔 (5–29%)
Dilatation of the ventricular cavity	가끔 (5–29%)
Enlarged and thickened heart muscle	가끔 (5–29%)
Heart attack	가끔 (5–29%)
Ischemic stroke	가끔 (5–29%)
Mini stroke	가끔 (5–29%)
Myxomatous mitral valve degeneration	가끔 (5–29%)
Narrowing of aorta	가끔 (5–29%)
Narrowing of kidney artery	가끔 (5–29%)
Overriding aorta	가끔 (5–29%)
Patent ductus arteriosus	가끔 (5–29%)
Peripheral arterial stenosis	가끔 (5–29%)
Portal hypertension	가끔 (5–29%)
Sudden cardiac death	가끔 (5–29%)
Tear in inner wall of large artery that carries blood away from heart	가끔 (5–29%)
Tetralogy of Fallot	가끔 (5–29%)
Narrowing of lung artery	기록되지 않음

Abnormality of head or neck

특성	나타나는 빈도
Abnormality of the neck	매우 자주 (80–99%)
Abnormally large tongue	매우 자주 (80–99%)
Broad forehead	매우 자주 (80–99%)
Coarse facial features	매우 자주 (80–99%)
Drooping lower lip	매우 자주 (80–99%)
Elf-like facial appearance	매우 자주 (80–99%)
Eye folds	매우 자주 (80–99%)
Full lower lip	매우 자주 (80–99%)
High forehead	매우 자주 (80–99%)
Little lower jaw	매우 자주 (80–99%)
Long philtrum	매우 자주 (80–99%)
Narrow face	매우 자주 (80–99%)
Narrow opening between the eyelids	매우 자주 (80–99%)
Open bite	매우 자주 (80–99%)
Periorbital edema	매우 자주 (80–99%)
Pointed chin	매우 자주 (80–99%)
Short nose	매우 자주 (80–99%)
Wide mouth	매우 자주 (80–99%)
Wide nasal bridge	매우 자주 (80–99%)
Abnormal facial shape	자주 (30–79%)
Abnormal tooth enamel	자주 (30–79%)
Abnormality of dental shape	자주 (30–79%)
Abnormally small head	자주 (30–79%)
Bad bite	자주 (30–79%)
Beaked nose	자주 (30–79%)
Broad nasal tip	자주 (30–79%)
Cheekbone underdevelopment	자주 (30–79%)
Decreased size of tooth	자주 (30–79%)
Depressed nasal bridge	자주 (30–79%)
Failure of development of between one and six teeth	자주 (30–79%)
Full cheeks	자주 (30–79%)
Fullness around the eyes	자주 (30–79%)
Medial flaring of the eyebrow	자주 (30–79%)
Narrow forehead	자주 (30–79%)
Nasal tip, upturned	자주 (30–79%)
Open mouth	자주 (30–79%)
Delayed cranial suture closure	가끔 (5–29%)
Dental cavities	가끔 (5–29%)
Gum enlargement	가끔 (5–29%)
High, narrow palate	가끔 (5–29%)
Increased nuchal translucency	가끔 (5–29%)
Prominent forehead	가끔 (5–29%)
Receding chin	가끔 (5–29%)
Redundant neck skin	가끔 (5–29%)
Retinal arteriolar tortuosity	가끔 (5–29%)
Triangular face	가끔 (5–29%)
Zygomatic flattening	가끔 (5–29%)
Extra bones within cranial sutures	드물게 (1–4%)
Little foramen magnum	드물게 (1–4%)
Midface retrusion	기록되지 않음

Abnormality of the nervous system

특성	나타나는 빈도
Abnormal gait	매우 자주 (80–99%)
Abnormal shape of nervous system	매우 자주 (80–99%)
Abnormal social behavior	매우 자주 (80–99%)
Abnormal speech pattern	매우 자주 (80–99%)
Abnormality of balance	매우 자주 (80–99%)
Abnormality of extrapyramidal motor function	매우 자주 (80–99%)
Anxiety	매우 자주 (80–99%)
Ataxia	매우 자주 (80–99%)
Depression	매우 자주 (80–99%)
Dysgraphia	매우 자주 (80–99%)
Fear of loud sounds	매우 자주 (80–99%)
Hyperacusis	매우 자주 (80–99%)
Increased reflexes	매우 자주 (80–99%)
Intellectual disability	매우 자주 (80–99%)
Involuntary movements	매우 자주 (80–99%)
Lack of coordination of movement	매우 자주 (80–99%)
Overfriendliness	매우 자주 (80–99%)
Tremor	매우 자주 (80–99%)
Attention deficit	자주 (30–79%)
Autism	자주 (30–79%)
Behavioral abnormality	자주 (30–79%)
Difficulty staying or falling asleep	자주 (30–79%)
Impaired visuospatial constructive cognition	자주 (30–79%)
Incoordination	자주 (30–79%)
Obsessive compulsive behavior	자주 (30–79%)
Short attention span	자주 (30–79%)
Abnormal diencephalon morphology	가끔 (5–29%)
Atrophy/Degeneration involving the corticospinal tracts	가끔 (5–29%)
Brisk reflexes	가끔 (5–29%)
Chiari malformation	가끔 (5–29%)
Chiari type I malformation	가끔 (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	가끔 (5–29%)
Difficulty articulating speech	가끔 (5–29%)
Difficulty sleeping	가끔 (5–29%)
Dural ectasia	가끔 (5–29%)
Global developmental delay	가끔 (5–29%)
Inability to move vocal cords	가끔 (5–29%)
Loss of developmental milestones	가끔 (5–29%)
Motor delay	가끔 (5–29%)
Small cerebellum	가끔 (5–29%)
Spina bifida occulta	가끔 (5–29%)
Autism spectrum disorder	드물게 (1–4%)
Obsessive-compulsive trait	기록되지 않음

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Abnormal shape of pelvic girdle bone	매우 자주 (80–99%)
Abnormality of connective tissue	매우 자주 (80–99%)
Abnormal curve of the backbone	자주 (30–79%)
Double-Jointed	자주 (30–79%)
Flexed joint that cannot be straightened	자주 (30–79%)
Hernia	자주 (30–79%)
Hunched back	자주 (30–79%)
Involuntary muscle stiffness, contraction, or spasm	자주 (30–79%)
Joint stiffness	자주 (30–79%)
Kyphoscoliosis	자주 (30–79%)
Low muscle tone	자주 (30–79%)
Osteopenia	자주 (30–79%)
Osteoporosis	자주 (30–79%)
Prominent swayback	자주 (30–79%)
Rounded shoulders	자주 (30–79%)
Abnormal vertebral body morphology	가끔 (5–29%)
Abnormality of the sternum	가끔 (5–29%)
Delayed bone maturation	가끔 (5–29%)
Funnel chest	가끔 (5–29%)
Fusion of joints	가끔 (5–29%)
Increased bone mineral density	가끔 (5–29%)
Muscle tissue disease	가끔 (5–29%)
Scoliosis	가끔 (5–29%)
Vertebral segmentation defect	가끔 (5–29%)
Generalized decreased muscle tone	기록되지 않음

Abnormality of the genitourinary system

특성	나타나는 빈도
Abnormality of the bladder	자주 (30–79%)
Abnormally shaped kidney	자주 (30–79%)
Bladder diverticulum	자주 (30–79%)
Frequent urinary tract infections	자주 (30–79%)
Narrowing of the urethra	자주 (30–79%)
Pelvic kidney	자주 (30–79%)
Renal failure	자주 (30–79%)
Sagging uterus	자주 (30–79%)
Abnormal tubulointerstitial morphology	가끔 (5–29%)
Functional abnormality of male internal genitalia	가끔 (5–29%)
Increased calcium level in kidney	가끔 (5–29%)
Kidney stone	가끔 (5–29%)
Multiple kidney cysts	가끔 (5–29%)
Polycystic ovaries	가끔 (5–29%)
Pyelonephritis	가끔 (5–29%)
Short penis	가끔 (5–29%)
Small kidneys	가끔 (5–29%)
Underdeveloped penis	가끔 (5–29%)
Undescended testes	가끔 (5–29%)
Vesicoureteral reflux	가끔 (5–29%)
Absent kidney on one side	드물게 (1–4%)
Enuresis	기록되지 않음

Abnormality of the eye

특성	나타나는 빈도
Severe farsightedness	매우 자주 (80–99%)
Abnormality of the iris	자주 (30–79%)
Blue eyes	자주 (30–79%)
Cross-eyed	자주 (30–79%)
Nystagmus-induced head nodding	자주 (30–79%)
Visual impairment	자주 (30–79%)
Abnormality of refraction	가끔 (5–29%)
Abnormality of tear production	가끔 (5–29%)
Abnormally close eyes	가끔 (5–29%)
Absent/small iris	가끔 (5–29%)
Close sighted	가끔 (5–29%)
Clouding of the lens of the eye	가끔 (5–29%)
Clouding of the lens of the eye at birth	가끔 (5–29%)
Corneal opacity	가끔 (5–29%)
Drooping upper eyelid	가끔 (5–29%)
Enlarged cornea	가끔 (5–29%)
Flat cornea	가끔 (5–29%)
Glaucoma	가끔 (5–29%)
Lazy eye	가끔 (5–29%)
Posterior embryotoxon	가끔 (5–29%)
Wide-set eyes	가끔 (5–29%)

Abnormality of the digestive system

특성	나타나는 빈도
Abdominal pain	매우 자주 (80–99%)
Acid reflux	자주 (30–79%)
Colonic diverticula	자주 (30–79%)
Constipation	자주 (30–79%)
Feeding difficulties in infancy	자주 (30–79%)
Inguinal hernia	자주 (30–79%)
Nausea and vomiting	자주 (30–79%)
Rectum protrudes through anus	자주 (30–79%)
Abnormal connection between trachea and esophagus	가끔 (5–29%)
Abnormality of the mucous membrane layer of stomach	가끔 (5–29%)
Celiac disease	가끔 (5–29%)
Extra kidney	가끔 (5–29%)
Feeding difficulties	가끔 (5–29%)
Gallstones	가끔 (5–29%)
Malabsorption	가끔 (5–29%)
Small bowel diverticula	가끔 (5–29%)
Sore in the lining of gastrointestinal tract	가끔 (5–29%)
Umbilical hernia	가끔 (5–29%)
Vomiting	드물게 (1–4%)
Chronic constipation	기록되지 않음

Abnormality of the integument

특성	나타나는 빈도
Loose redundant skin	항상
Fragmented elastic fibers in the dermis	매우 자주 (80–99%)
Hanging skin	매우 자주 (80–99%)
Hyperelastic skin	매우 자주 (80–99%)
Increased number of skin folds	매우 자주 (80–99%)
Premature skin wrinkling	매우 자주 (80–99%)
Abnormal fingernails	자주 (30–79%)
Premature graying of hair	자주 (30–79%)
Prematurely aged appearance	자주 (30–79%)
Small nail	자주 (30–79%)
Soft skin	자주 (30–79%)
Spinal dimple	자주 (30–79%)
Underdeveloped toenails	자주 (30–79%)
Abnormal fingerprints	가끔 (5–29%)
Dermal translucency	가끔 (5–29%)
port-wine stain	가끔 (5–29%)
Premature aged appearance	기록되지 않음

Abnormality of limbs

특성	나타나는 빈도
Bunion	자주 (30–79%)
Curvature of little finger	자주 (30–79%)
Dropped arches	자주 (30–79%)
Knock knees	자주 (30–79%)
Abnormality of the ankle	가끔 (5–29%)
Dislocated kneecap	가끔 (5–29%)
Fused forearm bones	가끔 (5–29%)
Hip dislocation	가끔 (5–29%)
Inward turned thumb	가끔 (5–29%)
Long slender fingers	가끔 (5–29%)
Back knee	드물게 (1–4%)
Club feet	드물게 (1–4%)
Talipes calcaneovalgus	드물게 (1–4%)

Laboratory abnormality

특성	나타나는 빈도
High blood calcium levels	매우 자주 (80–99%)
Diabetes mellitus	자주 (30–79%)
Elevated blood creatine phosphokinase	자주 (30–79%)
Elevated urine calcium levels	자주 (30–79%)
High urine protein levels	자주 (30–79%)
Abnormal circulating lipid concentration	가끔 (5–29%)
Deficient in vitamin D	가끔 (5–29%)
Noninsulin-dependent diabetes	가끔 (5–29%)
Food intolerance	기록되지 않음
Glucose intolerance	기록되지 않음

Abnormality of the ear

특성	나타나는 빈도
Ears rotated toward back of head	매우 자주 (80–99%)
Large ears	매우 자주 (80–99%)
Prominent ear	매우 자주 (80–99%)
Chronic infections of the middle ear	자주 (30–79%)
Large earlobe	자주 (30–79%)
Recurrent middle ear infection	자주 (30–79%)
Sensorineural hearing impairment	자주 (30–79%)
Low-set ears	가끔 (5–29%)

Abnormality of the respiratory system

특성	나타나는 빈도
Breathing difficulty	자주 (30–79%)
Emphysema	자주 (30–79%)
Exertional breathlessness	자주 (30–79%)
Paroxysmal dyspnea	자주 (30–79%)
Permanent enlargement of the airways of the lungs	자주 (30–79%)
Collapsed lung	가끔 (5–29%)
Coughing up blood	가끔 (5–29%)

Growth abnormality

특성	나타나는 빈도
Faltering weight in infancy	매우 자주 (80–99%)
Short stature	매우 자주 (80–99%)
Obesity	자주 (30–79%)
Growth delay as children	가끔 (5–29%)
Prenatal growth deficiency	가끔 (5–29%)
Tall stature	가끔 (5–29%)

Abnormality of the endocrine system

특성	나타나는 빈도
Early onset of sexual maturation	자주 (30–79%)
Early onset of puberty	가끔 (5–29%)
Hypogonadotropic hypogonadism	가끔 (5–29%)
Underactive thyroid	가끔 (5–29%)

Abnormality of the voice

특성	나타나는 빈도
Abnormality of the voice	매우 자주 (80–99%)
Hoarse voice	매우 자주 (80–99%)
Inability to produce voice sounds	가끔 (5–29%)

Constitutional symptom

특성	나타나는 빈도
Chest pain	자주 (30–79%)
Joint pain	자주 (30–79%)
Sudden death	드물게 (1–4%)

Abnormality of blood and blood-forming tissues

특성	나타나는 빈도
Bruising susceptibility	가끔 (5–29%)
Subarachnoid hemorrhage	가끔 (5–29%)

Abnormality of the immune system

특성	나타나는 빈도
Recurrent respiratory infections	가끔 (5–29%)
Unusual bronchiolitis	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: ELN에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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