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Items: 6

1.

Kabuki make-up syndrome

Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities including isolated premature thelarche in females, feeding problems, and hearing loss. [from GeneReviews]

MedGen UID:
162897
Concept ID:
C0796004
Congenital Abnormality; Disease or Syndrome
2.

Purpura

Purpura (from Latin: purpura, meaning \ [from HPO]

MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome; Finding
3.

Hemorrhage

Bleeding is the loss of blood. It can happen inside or outside the body. Bleeding can be a reaction to a cut or other wound. It can also result from an injury to internal organs. There are many situations in which you might bleed. A bruise is bleeding under the skin. Some strokes are caused by bleeding in the brain. Other bleeding, such as gastrointestinal bleeding, coughing up blood, or vaginal bleeding, can be a symptom of a disease. Normally, when you bleed, your blood forms clots to stop the bleeding. Severe bleeding may require first aid or a trip to the emergency room. If you have a bleeding disorder, your blood does not form clots normally.  [from MedlinePlus]

MedGen UID:
5503
Concept ID:
C0019080
Finding; Pathologic Function
4.

Kabuki syndrome

MedGen UID:
833597
Concept ID:
CN229564
Disease or Syndrome
5.

Immunoglobulin A vasculitis

Schönlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. [from ORDO]

MedGen UID:
799309
Concept ID:
CN205724
Finding
6.

Anaphylactoid purpura

A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy. [from NCI]

MedGen UID:
48265
Concept ID:
C0034152
Disease or Syndrome
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