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Items: 1 to 20 of 32

1.

Osteoarthritis susceptibility 1

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. [from OMIM]

MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
2.

Osteoarthritis

MedGen UID:
505348
Concept ID:
CN002503
Finding
3.

Loeys-Dietz syndrome 3

Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus). Approximately 75% of affected individuals have LDS type I with craniofacial manifestations (widely spaced eyes, bifid uvula/cleft palate, craniosynostosis); approximately 25% have LDS type II with systemic manifestations of LDSI but minimal or absent craniofacial features. LDSI and LDSII form a clinical continuum. The natural history of LDS is characterized by aggressive arterial aneurysms (mean age at death 26.1 years) and a high incidence of pregnancy-related complications, including death and uterine rupture. [from GeneReviews]

MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
4.

Aneurysm

Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. [from HPO]

MedGen UID:
428304
Concept ID:
CN002379
Finding
5.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
6.

Osteochondritis dissecans

The skeletal disorder osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue and primarily affects the knee, ankle, and elbow joints. Familial osteochondritis dissecans is characterized by multiple osteochondritic lesions in knees and/or hips and/or elbows, disproportionate short stature, and early-onset osteoarthritis (OA) (summary by Stattin et al., 2010). The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away. [from OMIM]

MedGen UID:
10494
Concept ID:
C0029421
Disease or Syndrome
7.

Hypertelorism

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 (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995). [from OMIM]

MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
8.

Thoracic aortic aneurysms and dissections

MedGen UID:
808148
Concept ID:
CN221558
Disease or Syndrome
9.

Osteochondrosis dissecans

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. [from HPO]

MedGen UID:
506413
Concept ID:
CN116620
Finding
10.

Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). [from HPO]

MedGen UID:
504419
Concept ID:
CN000296
Finding
11.

Aortic dissection

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. [from HPO]

MedGen UID:
427921
Concept ID:
CN002407
Finding
12.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
13.

Adams-Oliver syndrome

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014). Genetic Heterogeneity of Adams-Oliver Syndrome Other autosomal dominant forms of Adams-Oliver syndrome include AOS3 (614814), caused by mutation in the RBPJ gene (147183) on chromosome 4p15; AOS5 (616028), caused by mutation in the NOTCH1 gene (190198) on chromosome 9q34; and AOS6 (616589), caused by mutation in the DLL4 gene (173410) on chromosome 5q32. Autosomal recessive forms of Adams-Oliver syndrome include AOS2 (614219), caused by mutation in the DOCK6 gene (614194) on chromosome 19p13.2, and AOS4 (615297), caused by mutation in the EOGT gene (614789) on chromosome 3p14. [from OMIM]

MedGen UID:
78544
Concept ID:
C0265268
Congenital Abnormality; Disease or Syndrome
14.

Vascular disorder

The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body. . You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include. - Family history of vascular or heart diseases. - Pregnancy. - Illness or injury . - Long periods of sitting or standing still. - Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol . - Smoking . - Obesity . Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.  [from MedlinePlus]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
15.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
16.

Disorder of cardiovascular system

A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. [from NCI]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
17.

Cardiovascular (child onset)

MedGen UID:
851505
Concept ID:
CN232535
Finding
18.

_ Cardiovascular (child onset)

MedGen UID:
851484
Concept ID:
CN232503
Finding
19.

Multiple congenital anomalies _ Craniofacial (child onset)

MedGen UID:
851469
Concept ID:
CN232478
Finding
20.

Multiple congenital anomalies _ Cardiovascular (child onset)

MedGen UID:
851456
Concept ID:
CN232477
Finding
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