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Items: 7

1.

Inherited bone marrow failure syndrome

A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. [from NCI]

MedGen UID:
458917
Concept ID:
C2986691
Disease or Syndrome
2.

Bone marrow failure syndrome

MedGen UID:
419754
Concept ID:
C2931245
Disease or Syndrome
3.

Abnormality of the skin of the palm

An abnormality of the skin of the palm, that is, the skin of the front of the hand. [from HPO]

MedGen UID:
892900
Concept ID:
C4073159
Anatomical Abnormality
4.

Inherited deformity of nail

MedGen UID:
697568
Concept ID:
C1274219
Congenital Abnormality
5.

Inherited cutaneous hyperpigmentation

MedGen UID:
590669
Concept ID:
C0406771
Disease or Syndrome
6.

Disorders of Pigmentation of the Mouse Skin

MedGen UID:
315758
Concept ID:
C1522416
Disease or Syndrome
7.

Russell-silver syndrome, X-linked

MedGen UID:
67401
Concept ID:
C0220775
Disease or Syndrome
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