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1.

Cutis laxa, X-linked

Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995). [from GTR]

MedGen UID:
82793
Concept ID:
C0268353
Congenital Abnormality
2.

Coxa valga

Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). [from HPO]

MedGen UID:
116080
Concept ID:
C0239137
Finding; Finding
3.

Syndrome

A characteristic symptom complex. [from MeSH]

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

Diarrhea

Abnormally increased frequency of loose or watery bowel movements. [from HPO]

MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
5.

Narrowing

MedGen UID:
839288
Concept ID:
C3854333
Anatomical Abnormality
6.

Mosaicism 45, X; 46, XX

MedGen UID:
609532
Concept ID:
C0432465
Disease or Syndrome
7.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
8.

X-linked recessive inheritance

A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. [from HPO]

MedGen UID:
375779
Concept ID:
C1845977
Finding
9.

Chronic

Slow, creeping onset, slow progress and long continuance of disease manifestations. [from HPO]

MedGen UID:
104657
Concept ID:
C0205191
Temporal Concept
10.

Broad clavicles

Increased width (cross-sectional diameter) of the clavicles. [from HPO]

MedGen UID:
98091
Concept ID:
C0426801
Finding
11.

Chronic diarrhea

The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. [from HPO]

MedGen UID:
96036
Concept ID:
C0401151
Disease or Syndrome; Finding
12.

Abnormal facial shape

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
13.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
14.

Vascular hemostatic disease

Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS. [from MeSH]

MedGen UID:
154721
Concept ID:
C0600502
Disease or Syndrome
15.

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.The various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were discovered more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.An unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser extent the kyphoscoliotic, classical, and classical-like types, can cause unpredictable tearing (rupture) of blood vessels, leading to internal bleeding and other potentially life-threatening complications. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus during pregnancy.Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums. [from GTR]

MedGen UID:
41720
Concept ID:
C0013720
Disease or Syndrome
16.

Vascular disorder

A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma. [from NCI]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
17.

Genodermatosis

Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. [from MeSH]

MedGen UID:
20779
Concept ID:
C0037277
Disease or Syndrome
18.

dermopathy

An abnormality of the skin. [from HPO]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
19.

Abnormality of the skin

A skin abnormality that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
11449
Concept ID:
C0037268
Disease or Syndrome; Finding
20.

Haemorrhagic 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 (HEMOSTATIC DISORDERS). [from MeSH]

MedGen UID:
6799
Concept ID:
C0019087
Disease or Syndrome
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