Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 25

1.

Hyperostosis

Increase in the mass of bone per unit volume. [from MeSH]

MedGen UID:
9366
Concept ID:
C0020492
Disease or Syndrome
2.

Hyperostosis

Excessive growth or abnormal thickening of bone tissue. [from HPO]

MedGen UID:
506537
Concept ID:
CN117664
Finding
3.

Infantile cortical hyperostosis

Caffey disease is characterized by massive subperiosteal new bone formation (usually involving the diaphyses of the long bones as well as the ribs, mandible, scapulae, and clavicles) typically associated with fever, joint swelling, and pain in children, with onset around age two months and spontaneous resolution by age two years. On rare occasion, the hyperostosis can be detected by ultrasound examination late in the third trimester of pregnancy. Limited follow-up information suggests that adults who had Caffey disease in childhood may manifest joint laxity, skin hyperextensibility, hernias, and an increased risk for bone fractures and/or deformities. [from GeneReviews]

MedGen UID:
43781
Concept ID:
C0020497
Disease or Syndrome
4.

Osteogenesis imperfecta

COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae. [from GeneReviews]

MedGen UID:
45246
Concept ID:
C0029434
Congenital Abnormality; Disease or Syndrome
5.

symptomatic

MedGen UID:
880232
Concept ID:
CN235625
Finding
6.

Non-syndromic pontocerebellar hypoplasia

Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern. [from ORDO]

MedGen UID:
831439
Concept ID:
CN227794
Finding
7.

Abnormality of the lung

MedGen UID:
807349
Concept ID:
CN218444
Finding
8.

Osteogenesis imperfecta type 2

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. [from ORDO]

MedGen UID:
798935
Concept ID:
CN201105
Disease or Syndrome
9.

Polyhydramnios

The presence of excess amniotic fluid in the uterus during pregnancy. [from HPO]

MedGen UID:
504854
Concept ID:
CN001423
Finding
10.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
11.

Disorder of lung

When you breathe, your lungs take in oxygen from the air and deliver it to the bloodstream. The cells in your body need oxygen to work and grow. During a normal day, you breathe nearly 25,000 times. People with lung disease have difficulty breathing. Millions of people in the U.S. have lung disease. If all types of lung disease are lumped together, it is the number three killer in the United States. The term lung disease refers to many disorders affecting the lungs, such as asthma, COPD, infections like influenza, pneumonia and tuberculosis, lung cancer, and many other breathing problems. Some lung diseases can lead to respiratory failure. Dept. of Health and Human Services Office on Women's Health.  [from MedlinePlus]

MedGen UID:
7399
Concept ID:
C0024115
Disease or Syndrome
12.

Pregnancy

So you're going to have a baby! Whether you are pregnant or are planning to get pregnant, you will want to give your baby a healthy start. You need to have regular visits with your healthcare provider. These prenatal care visits are very important for your baby and yourself. Some things you might do when you are pregnant could hurt your baby, such as smoking or drinking. Some medicines can also be a problem, even ones that a doctor prescribed. You will need to drink plenty of fluids and eat a healthy diet. You may also be tired and need more rest. Your body will change as your baby grows during the nine months of your pregnancy. Don't hesitate to call your health care provider if you think you have a problem or something is bothering or worrying you. .  [from MedlinePlus]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
13.

Osteochondrodysplasia

A general term describing features characterized by abnormal development of bones and connective tissues. [from HPO]

MedGen UID:
10495
Concept ID:
C0029422
Congenital Abnormality; Disease or Syndrome
14.

Prenatal cortical hyperostosis, lethal

MedGen UID:
354634
Concept ID:
C1861980
Disease or Syndrome
15.

Polyhydramnios in utero

MedGen UID:
879892
Concept ID:
CN235281
Finding
16.

Osteogenesis imperfecta, mild

MedGen UID:
864390
Concept ID:
C4015953
Finding
17.

Osteogenesis imperfecta type 12

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder (Glorieux et al., 2002; Becker et al., 2011). [from OMIM]

MedGen UID:
462783
Concept ID:
C3151433
Disease or Syndrome
18.

Osteogenesis imperfecta type 11

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae (summary by Lapunzina et al., 2010). [from OMIM]

MedGen UID:
462568
Concept ID:
C3151218
Disease or Syndrome
19.

Osteogenesis imperfecta type 10

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010). [from OMIM]

MedGen UID:
462561
Concept ID:
C3151211
Disease or Syndrome
20.

Osteogenesis imperfecta type 1, mild

MedGen UID:
441332
Concept ID:
CN071439
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...