U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Links from PMC

Items: 7

1.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
2.

Piebaldism

Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004). [from OMIM]

MedGen UID:
36361
Concept ID:
C0080024
Congenital Abnormality
3.

Deafness

An inherited or acquired condition characterized by the inability to hear in one or both ears. [from NCI]

MedGen UID:
4155
Concept ID:
C0011053
Finding; Finding
4.

Abnormal mast cell morphology

Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. [from HPO]

MedGen UID:
722854
Concept ID:
C1301149
Anatomical Abnormality
5.

Hypoplasia of the ovary

Developmental hypoplasia of the ovary. [from HPO]

MedGen UID:
672766
Concept ID:
C0685840
Congenital Abnormality
6.

Absent testis

Testis not palpable in the scrotum or inguinal canal. [from HPO]

MedGen UID:
575082
Concept ID:
C0342526
Finding
7.

Aplasia of the ovary

Aplasia, that is failure to develop, of the ovary. [from HPO]

MedGen UID:
452348
Concept ID:
C0266368
Congenital Abnormality
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...