From HPO
Sudden death- MedGen UID:
- 8257
- •Concept ID:
- C0011071
- •
- Pathologic Function
Rapid and unexpected death.
Chronic fatigue- MedGen UID:
- 760077
- •Concept ID:
- C0518656
- •
- Finding
Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.
Arachnodactyly- MedGen UID:
- 2047
- •Concept ID:
- C0003706
- •
- Congenital Abnormality
Abnormally long and slender fingers ("spider fingers").
Clubfoot- MedGen UID:
- 3130
- •Concept ID:
- C0009081
- •
- Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Pes planus- MedGen UID:
- 42034
- •Concept ID:
- C0016202
- •
- Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Protrusio acetabuli- MedGen UID:
- 98369
- •Concept ID:
- C0409495
- •
- Anatomical Abnormality
Intrapelvic bulging of the medial acetabular wall.
Osteoarthritis, knee- MedGen UID:
- 98371
- •Concept ID:
- C0409959
- •
- Disease or Syndrome
Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)
Aortic aneurysm- MedGen UID:
- 362
- •Concept ID:
- C0003486
- •
- Disease or Syndrome
Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
Atrial fibrillation- MedGen UID:
- 445
- •Concept ID:
- C0004238
- •
- Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
Patent ductus arteriosus- MedGen UID:
- 4415
- •Concept ID:
- C0013274
- •
- Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Atrial septal defect- MedGen UID:
- 6753
- •Concept ID:
- C0018817
- •
- Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Mitral regurgitation- MedGen UID:
- 7670
- •Concept ID:
- C0026266
- •
- Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Mitral valve prolapse- MedGen UID:
- 7671
- •Concept ID:
- C0026267
- •
- Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Varicose disease- MedGen UID:
- 21827
- •Concept ID:
- C0042345
- •
- Disease or Syndrome
Enlarged and tortuous veins.
Bicuspid aortic valve- MedGen UID:
- 57436
- •Concept ID:
- C0149630
- •
- Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
Left ventricular hypertrophy- MedGen UID:
- 57442
- •Concept ID:
- C0149721
- •
- Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Abdominal aortic aneurysm- MedGen UID:
- 56524
- •Concept ID:
- C0162871
- •
- Anatomical Abnormality
An abnormal localized widening (dilatation) of the abdominal aorta.
Thoracic aortic aneurysm- MedGen UID:
- 56525
- •Concept ID:
- C0162872
- •
- Anatomical Abnormality
An abnormal localized widening (dilatation) of the thoracic aorta.
Ventricular hypertrophy- MedGen UID:
- 87400
- •Concept ID:
- C0340279
- •
- Disease or Syndrome
Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.
Aortic dissection- MedGen UID:
- 83315
- •Concept ID:
- C0340643
- •
- Disease or Syndrome
Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.
Ascending aortic dissection- MedGen UID:
- 322966
- •Concept ID:
- C1836653
- •
- Disease or Syndrome
A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
Tortuous cerebral arteries- MedGen UID:
- 373178
- •Concept ID:
- C1836791
- •
- Finding
Excessive bending, twisting, and winding of a cerebral artery.
Pulmonic stenosis- MedGen UID:
- 408291
- •Concept ID:
- C1956257
- •
- Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Arterial tortuosity- MedGen UID:
- 480821
- •Concept ID:
- C3279191
- •
- Finding
Abnormal tortuous (i.e., twisted) form of arteries.
Descending aortic dissection- MedGen UID:
- 868484
- •Concept ID:
- C4022878
- •
- Disease or Syndrome
A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
Aortic tortuosity- MedGen UID:
- 870555
- •Concept ID:
- C4025003
- •
- Anatomical Abnormality
Abnormal tortuous (i.e., twisted) form of the aorta.
Dilatation of the cerebral artery- MedGen UID:
- 1386760
- •Concept ID:
- C4476540
- •
- Anatomical Abnormality
The presence of a localized dilatation or ballooning of a cerebral artery.
Dilatation of the sinus of Valsalva- MedGen UID:
- 1392959
- •Concept ID:
- C4476551
- •
- Anatomical Abnormality
Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.
Disproportionate tall stature- MedGen UID:
- 323048
- •Concept ID:
- C1836996
- •
- Finding
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Eosinophilic infiltration of the esophagus- MedGen UID:
- 1637185
- •Concept ID:
- C4703646
- •
- Finding
Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.
Subarachnoid hemorrhage- MedGen UID:
- 11625
- •Concept ID:
- C0038525
- •
- Disease or Syndrome
Hemorrhage occurring between the arachnoid mater and the pia mater.
Migraine- MedGen UID:
- 57451
- •Concept ID:
- C0149931
- •
- Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Dural ectasia- MedGen UID:
- 377094
- •Concept ID:
- C1851712
- •
- Finding
A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.
Craniosynostosis syndrome- MedGen UID:
- 1163
- •Concept ID:
- C0010278
- •
- Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Inguinal hernia- MedGen UID:
- 6817
- •Concept ID:
- C0019294
- •
- Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Umbilical hernia- MedGen UID:
- 9232
- •Concept ID:
- C0019322
- •
- Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Osteoarthritis- MedGen UID:
- 45244
- •Concept ID:
- C0029408
- •
- Disease or Syndrome
Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence.
Genetic Heterogeneity of Susceptibility to Osteoarthritis
Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11.
Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).
Osteoarthritis, hip- MedGen UID:
- 14530
- •Concept ID:
- C0029410
- •
- Disease or Syndrome
Osteoarthritis of the hip joint.
Osteochondritis dissecans- MedGen UID:
- 10494
- •Concept ID:
- C0029421
- •
- Disease or Syndrome
A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.
Retrognathia- MedGen UID:
- 19766
- •Concept ID:
- C0035353
- •
- Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Spondylolisthesis- MedGen UID:
- 52470
- •Concept ID:
- C0038016
- •
- Disease or Syndrome
Spondylolisthesis is defined as forward slipping of a vertebral body on the one below it. Spondylolysis is defined as a defect in the pars interarticularis without vertebral slipping (summary by Wiltse et al., 1975).
Uterine prolapse- MedGen UID:
- 22591
- •Concept ID:
- C0042140
- •
- Finding
The presence of prolapse of the uterus.
Intervertebral disk degeneration- MedGen UID:
- 102357
- •Concept ID:
- C0158266
- •
- Disease or Syndrome
The presence of degenerative changes of intervertebral disk.
Pectus carinatum- MedGen UID:
- 57643
- •Concept ID:
- C0158731
- •
- Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Dolichocephaly- MedGen UID:
- 65142
- •Concept ID:
- C0221358
- •
- Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Cervical spine instability- MedGen UID:
- 96083
- •Concept ID:
- C0410652
- •
- Disease or Syndrome
An abnormal lack of stability of the cervical spine.
Camptodactyly- MedGen UID:
- 195780
- •Concept ID:
- C0685409
- •
- Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Cystocele- MedGen UID:
- 730551
- •Concept ID:
- C1394494
- •
- Disease or Syndrome
Anterior vaginal wall prolapse with bulging of the bladder into the vagina.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Malar flattening- MedGen UID:
- 347616
- •Concept ID:
- C1858085
- •
- Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Abnormal sternum morphology- MedGen UID:
- 349830
- •Concept ID:
- C1860493
- •
- Anatomical Abnormality
An anomaly of the sternum, also known as the breastbone.
Pneumothorax- MedGen UID:
- 19365
- •Concept ID:
- C0032326
- •
- Disease or Syndrome
Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.
Dental malocclusion- MedGen UID:
- 9869
- •Concept ID:
- C0024636
- •
- Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Long face- MedGen UID:
- 324419
- •Concept ID:
- C1836047
- •
- Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Bifid uvula- MedGen UID:
- 1646931
- •Concept ID:
- C4551488
- •
- Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Striae distensae- MedGen UID:
- 57541
- •Concept ID:
- C0152459
- •
- Acquired Abnormality
Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
Atrophic scars- MedGen UID:
- 57875
- •Concept ID:
- C0162154
- •
- Pathologic Function
Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
Bruising susceptibility- MedGen UID:
- 140849
- •Concept ID:
- C0423798
- •
- Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Dermal translucency- MedGen UID:
- 373141
- •Concept ID:
- C1836646
- •
- Finding
An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.
Soft skin- MedGen UID:
- 336730
- •Concept ID:
- C1844592
- •
- Finding
Subjective impression of increased softness upon palpation of the skin.
Ectopia lentis- MedGen UID:
- 41704
- •Concept ID:
- C0013581
- •
- Congenital Abnormality
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Proptosis- MedGen UID:
- 41917
- •Concept ID:
- C0015300
- •
- Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Exotropia- MedGen UID:
- 4613
- •Concept ID:
- C0015310
- •
- Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Constitutional symptom
- Growth abnormality