Display Settings:

Format
Items per page

Send to:

Choose Destination

Results: 9

1.

Disorder of bile acid synthesis

Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis. [from ORDO]

MedGen UID:
832427
Concept ID:
CN227585
Disease or Syndrome
2.

Heart disease: absent

MedGen UID:
776704
Concept ID:
CN184661
Finding
3.

Skin Manifestations: absent

MedGen UID:
776701
Concept ID:
CN184658
Finding
4.

Pain

MedGen UID:
776584
Concept ID:
C2364139
Finding
5.

Cholestasis

Impairment of bile flow due to obstruction in bile ducts. [from HPO]

MedGen UID:
504828
Concept ID:
CN001277
Finding
6.

Pruritus

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. [from HPO]

MedGen UID:
504677
Concept ID:
CN000926
Finding
7.

Jaundice

Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. [from HPO]

MedGen UID:
427849
Concept ID:
CN000891
Finding
8.

Skin Manifestations

Dermatologic disorders attendant upon non-dermatologic disease or injury. [from MeSH]

MedGen UID:
52366
Concept ID:
C0037285
Sign or Symptom
9.

Retinitis pigmentosa

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease. [from GeneReviews]

MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome

Display Settings:

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...