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Items: 1 to 20 of 32

1.

Partial albinism

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 GTR]

MedGen UID:
36361
Concept ID:
C0080024
Congenital Abnormality
2.

Piebaldism

Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution. [from HPO]

MedGen UID:
429125
Concept ID:
CN006616
Finding
3.

Infertility

A reduced or absent capacity to reproduce. [from MeSH]

MedGen UID:
43876
Concept ID:
C0021359
Finding; Pathologic Function
4.

Zinc

A metallic element of atomic number 30 and atomic weight 65.38. It is a necessary trace element in the diet, forming an essential part of many enzymes, and playing an important role in protein synthesis and in cell division. Zinc deficiency is associated with ANEMIA, short stature, HYPOGONADISM, impaired WOUND HEALING, and geophagia. It is known by the symbol Zn. [from MeSH]

MedGen UID:
22752
Concept ID:
C0043481
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
5.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration. [from HPO]

MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
6.

Skin depigmented

Loss of all color from the skin. [from NCI]

MedGen UID:
854351
Concept ID:
C3887488
Finding
7.

Infertility

MedGen UID:
504598
Concept ID:
CN000737
Finding
8.

Catatrichy

MedGen UID:
348454
Concept ID:
C1861799
Disease or Syndrome
9.

Hypopigmentation of the skin

A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. [from MeSH]

MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
10.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
11.

White forelock

A triangular depigmented region of white hairs located in the anterior midline of the scalp. [from HPO]

MedGen UID:
91023
Concept ID:
C0344312
Finding
12.

Poliosis

Circumscribed depigmentation of the hair of the head or the eyelashes. [from HPO]

MedGen UID:
67449
Concept ID:
C0221262
Disease or Syndrome
13.

Anemia

A laboratory test result demonstrating decreased levels of hemoglobin in a biological specimen. [from NCI]

MedGen UID:
56401
Concept ID:
C0162119
Finding
14.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
15.

Disorder of pigmentation

Diseases affecting PIGMENTATION, including SKIN PIGMENTATION. [from MeSH]

MedGen UID:
107500
Concept ID:
C0549567
Disease or Syndrome
16.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
17.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
18.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
19.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
20.

Hereditary eye diseases

Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. [from MeSH]

MedGen UID:
41933
Concept ID:
C0015398
Disease or Syndrome
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