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Results: 1 to 20 of 35

1.

Ambras syndrome

MedGen UID:
333542
Concept ID:
C1840362
Disease or Syndrome
2.

Hypertrichosis

A disorder characterized by hair density or length beyond the accepted limits of normal in a particular body region, for a particular age or race. [from NCI]

MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
3.

Inversion

a turning inside-out positioning of a body part [from CHV]

MedGen UID:
507880
Concept ID:
C0021945
Anatomical Abnormality
4.

Congenital, generalized hypertrichosis

A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. [from HPO]

MedGen UID:
505656
Concept ID:
CN004028
Finding
5.

Pericentric inversion

A chromosome inversion involving a segment that includes the centromere. [from NCI]

MedGen UID:
90712
Concept ID:
C0333706
Cell or Molecular Dysfunction
6.

Hypertrichosis lanuginosa congenita

MedGen UID:
66727
Concept ID:
C0235864
Congenital Abnormality
7.

Hirsutism

A disorder characterized by the presence of excessive hair growth in women in anatomic sites where growth is considered to be a secondary male characteristic (beard, moustache, chest, abdomen), where hair growth is under androgen control. [from NCI]

MedGen UID:
42461
Concept ID:
C0019572
Finding
8.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
9.

Elderly person

A person 65 through 79 years of age. For a person older than 79 years, AGED, 80 AND OVER is available. [from MeSH]

MedGen UID:
7927
Concept ID:
C0001792
Finding
10.

Confusional state

A mental state marked by confusion about time, place, or who one is. [from NCI]

MedGen UID:
3587
Concept ID:
C0009676
Mental or Behavioral Dysfunction
11.

Congenital hypertrichosis

MedGen UID:
754278
Concept ID:
C2936812
Congenital Abnormality
12.

Generalized hypertrichosis

MedGen UID:
479570
Concept ID:
C3277940
Finding
13.

Fanconi anemia, complementation group E

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk of malignancy. Physical abnormalities, present in 60%-75% of affected individuals, include one or more of the following: short stature; abnormal skin pigmentation; malformations of the thumbs, forearms, skeletal system, eyes, kidneys and urinary tract, ears (and decreased hearing), heart, gastrointestinal system, central nervous system; hypogonadism; and developmental delay. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. By age 40 to 50 years, the estimated cumulative incidence of bone marrow failure is 90%; the incidence of hematologic malignancies (primarily acute myeloid leukemia) 10%-30%; and of nonhematologic malignancies (solid tumors, particularly of the head and neck, skin, GI tract, and genital tract) 25%-30%. [from GeneReviews]

MedGen UID:
463628
Concept ID:
C3160739
Disease or Syndrome
14.

Confusion

MedGen UID:
368095
Concept ID:
C1963086
Finding
15.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
16.

Generalized

Inverse of Specializes. Only included as a derived relationship. [from HL7]

MedGen UID:
104661
Concept ID:
C0205246
17.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
18.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
19.

Sequence Inversion

The deletion and reinsertion of a segment of a nucleic acid sequence in the same place, but flipped in an opposite orientation. [from MeSH]

MedGen UID:
439347
Concept ID:
C2718060
Cell or Molecular Dysfunction
20.

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

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