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Results: 1 to 20 of 36

1.

Sotos' syndrome

Sotos syndrome is characterized by the cardinal features of typical facial appearance, overgrowth (height and/or head circumference =2 SD above the mean), and learning disability ranging from mild (children attend mainstream schools and are likely to be independent as adults) to severe (lifelong care and support will likely be required). Sotos syndrome is associated with the major features of behavioral problems, congenital cardiac anomalies, neonatal jaundice, renal anomalies, scoliosis, and seizures. [from GeneReviews]

MedGen UID:
61232
Concept ID:
C0175695
Congenital Abnormality
2.

Link brand of magnesium carbonate and aluminum hydroxide

brand of magnesium carbonate and aluminum hydroxide [from CHV]

MedGen UID:
60403
Concept ID:
C0208973
Pharmacologic Substance
3.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

Factor XII deficiency disease

An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time. [from MeSH]

MedGen UID:
8772
Concept ID:
C0015526
Disease or Syndrome
5.

Reduced factor XII activity

Decreased activity of `coagulation factor XII` (PR:000007296). Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. [from HPO]

MedGen UID:
505700
Concept ID:
CN004286
Finding
6.

Dysmorphic features

MedGen UID:
473141
Concept ID:
C0432072
Congenital Abnormality
7.

Overgrowth

MedGen UID:
376550
Concept ID:
C1849265
Finding
8.

Genetic Diseases, Inborn

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
9.

Blood Coagulation Disorders, Inherited

Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. [from MeSH]

MedGen UID:
163105
Concept ID:
C0852077
Disease or Syndrome
10.

Coagulation Protein Disorders

Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins. [from MeSH]

MedGen UID:
108723
Concept ID:
C0600503
Disease or Syndrome
11.

Craniofacial Abnormalities

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. [from MeSH]

MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
12.

Congenital anomaly of musculoskeletal system

An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
57466
Concept ID:
C0151491
Disease or Syndrome
13.

Disorder of pituitary gland

Disorders involving either the ADENOHYPOPHYSIS or the NEUROHYPOPHYSIS. These diseases usually manifest as hypersecretion or hyposecretion of PITUITARY HORMONES. Neoplastic pituitary masses can also cause compression of the OPTIC CHIASM and other adjacent structures. [from MeSH]

MedGen UID:
45934
Concept ID:
C0032002
Disease or Syndrome
14.

Hyperpituitarism

Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA. [from MeSH]

MedGen UID:
43783
Concept ID:
C0020506
Disease or Syndrome
15.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Disease or Syndrome
16.

Bone Diseases, Endocrine

Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands. [from MeSH]

MedGen UID:
14183
Concept ID:
C0005942
Disease or Syndrome
17.

Disorder of bone

Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D and exercise. . There are many kinds of bone problems:: - Low bone density and osteoporosis, which make your bones weak and more likely to break . - Osteogenesis imperfecta makes your bones brittle . - Paget's disease of bone makes them weak . - Bone disease can make bones easy to break . - Bones can also develop cancer and infections. - Other bone diseases are caused by poor nutrition, genetic factors or problems with the rate of bone growth or rebuilding. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
18.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
19.

Hemorrhagic Disorders

spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (vascular hemostatic disorders). [from CRISP]

MedGen UID:
6799
Concept ID:
C0019087
Disease or Syndrome
20.

Hemic and Lymphatic Diseases

Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. [from MeSH]

MedGen UID:
6780
Concept ID:
C0018981
Disease or Syndrome

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