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1.

Osteopetrosis

A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis. [from NCI]

MedGen UID:
18223
Concept ID:
C0029454
Disease or Syndrome; Finding
2.

Osteopetrosis

Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. [from ORDO]

MedGen UID:
831363
Concept ID:
CN227101
Finding
3.

Eruption

MedGen UID:
549851
Concept ID:
C0302295
Pathologic Function
4.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
5.

Osteopetrosis autosomal dominant type 2

The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII, Albers-Schönberg disease). Onset of ARO is in infancy. Findings may include: fractures; poor growth; sclerosis of the skull base (with or without choanal stenosis or hydrocephalus) resulting in optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental abnormalities, odontomas, and risk for mandibular osteomyelitis; and hypocalcemia with tetanic seizures and secondary hyperparathyroidism. Without treatment maximal life span in ARO is ten years. Onset of IAO is in childhood. Findings may include fractures after minor trauma, characteristic skeletal radiographic changes found incidentally, mild anemia, and occasional visual impairment secondary to optic nerve compression. Life expectancy in IAO is usually normal. Onset of ADOII is usually late childhood or adolescence. Findings may include: fractures (in any long bone and/or the posterior arch of a vertebra), scoliosis, hip osteoarthritis, and osteomyelitis of the mandible or septic osteitis or osteoarthritis elsewhere. Cranial nerve compression is rare. [from GTR]

MedGen UID:
371629
Concept ID:
C1833700
6.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
7.

Skin rash

A red eruption of the skin. [from HPO]

MedGen UID:
8732
Concept ID:
C0015230
Finding; Sign or Symptom
8.

Growth substance

Signal molecules that are involved in the control of cell growth and differentiation. [from MeSH]

MedGen UID:
315661
Concept ID:
C1812630
Biologically Active Substance; Pharmacologic Substance
9.

Disorder of bone

Diseases of BONES. [from MeSH]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
10.

Increased bone mineral density

Abnormally high bone density. [from NCI]

MedGen UID:
10502
Concept ID:
C0029464
Disease or Syndrome
11.

Osteochondrodysplasia

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

MedGen UID:
10495
Concept ID:
C0029422
Disease or Syndrome
12.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
13.

Dyschondroplasia

MedGen UID:
3933
Concept ID:
C0013366
Congenital Abnormality
14.

Disorder of bone development

Any disorder of development of the bone. [from NCI]

MedGen UID:
2309
Concept ID:
C0005941
Disease or Syndrome
15.

Autosomal dominant osteopetrosis type 2

A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13). [from SNOMEDCT_US]

MedGen UID:
465707
Concept ID:
C3179239
Disease or Syndrome
16.

Irritant contact dermatitis due to dribbling and/or teething

MedGen UID:
699315
Concept ID:
C1276103
Disease or Syndrome
17.

Osteochondrodysplasia with osteopetrosis

MedGen UID:
539184
Concept ID:
C0265300
Congenital Abnormality; Disease or Syndrome
18.

Mouse Extramedullary Hematopoiesis

MedGen UID:
285698
Concept ID:
C1522130
Pathologic Function
19.

Aplasia of the thymus

Absence of the thymus. [from HPO]

MedGen UID:
146900
Concept ID:
C0685894
Congenital Abnormality
20.

Hypoplasia of the thymus

Underdevelopment of the thymus. [from HPO]

MedGen UID:
146347
Concept ID:
C0685891
Congenital Abnormality
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