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Results: 7

1.

Does not

MedGen UID:
721427
Concept ID:
C1299585
Finding
2.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
3.

Retinal nonattachment, nonsyndromic congenital

Retinal nonattachment is a more appropriate description than detachment. Its occurrence with falciform folds (falciform detachment; see 180070) in the same family indicates that the 2 phenotypes are basically the same (Warburg, 1976). Congenital retinal nonattachment is a feature of the osteoporosis-pseudoglioma syndrome (259770). [from OMIM]

MedGen UID:
341740
Concept ID:
C1857299
Disease or Syndrome
4.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
5.

MedGen UID:
108834
Concept ID:
C0591833
6.

Blastocyst Disintegration

MedGen UID:
8435
Concept ID:
C0012684
Pathologic Function
7.

CDKN1C Gene Mutation

MedGen UID:
318511
Concept ID:
C1711321
Cell or Molecular Dysfunction

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