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Results: 5

1.

Sacral agenesis

MedGen UID:
83373
Concept ID:
C0344490
Congenital Abnormality
2.

Branchial cleft, cyst or fistula; preauricular sinus

MedGen UID:
510595
Concept ID:
C0158595
Disease or Syndrome
3.

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
4.

Cloacal exstrophy

Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. [from HPO]

MedGen UID:
506366
Concept ID:
CN009306
Finding
5.

Hydromyelia

MedGen UID:
450992
Concept ID:
C0152444
Congenital Abnormality

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