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Results: 1 to 20 of 33

1.

Osteoporosis

Osteoporosis makes your bones weak and more likely to break. Anyone can develop osteoporosis, but it is common in older women. As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. Risk factors include : - Getting older . - Being small and thin . - Having a family history of osteoporosis. - Taking certain medicines. - Being a white or Asian woman. - Having osteopenia, which is low bone density. Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise and do not smoke. If needed, medicines can also help. . NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
2.

Osteoporosis

MedGen UID:
776590
Concept ID:
C2911643
Finding
3.

Bone mineral density quantitative trait locus 8

MedGen UID:
394842
Concept ID:
C2678504
Disease or Syndrome
4.

Osteoporosis

Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. [from MeSH]

MedGen UID:
10498
Concept ID:
C0029458
Disease or Syndrome
5.

Acroosteolysis

A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME. [from MeSH]

MedGen UID:
183017
Concept ID:
C0917990
Disease or Syndrome
6.

Hajdu-Cheney syndrome

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011). [from OMIM]

MedGen UID:
182961
Concept ID:
C0917715
Disease or Syndrome
7.

Lytic lesion

Dissolution of bone that particularly involves the removal or loss of calcium. [from MeSH]

MedGen UID:
67445
Concept ID:
C0221204
Finding
8.

Osteolysis

Dissolution of bone; applied especially to the removal or loss of the calcium of bone. [from NCI]

MedGen UID:
14532
Concept ID:
C0029435
Pathologic Function
9.

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
10.

Acroosteolysis dominant type

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acro-osteolysis of distal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. [from ORDO]

MedGen UID:
830915
Concept ID:
CN206779
Disease or Syndrome
11.

Osteolysis

Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. [from HPO]

MedGen UID:
505359
Concept ID:
CN002530
Finding
12.

Osteolytic defects of the phalanges of the hand

Dissolution or degeneration of bone tissue of the phalanges of the hand. [from HPO]

MedGen UID:
429018
Concept ID:
CN008629
Finding
13.

Acyl-CoA thioester hydrolase, long-chain, 1

MedGen UID:
351308
Concept ID:
C1865144
14.

Serpentine fibula polycystic kidney syndrome

MedGen UID:
333050
Concept ID:
C1838257
Disease or Syndrome
15.

Nonsense-Mediated Decay

MedGen UID:
276589
Concept ID:
C1518412
Molecular Function
16.

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
17.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
18.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
19.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
20.

Inborn genetic diseases

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

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