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1.

Alagille syndrome 1

Alagille syndrome (ALGS) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The clinical features are highly variable, even within families. The major clinical manifestations of ALGS are cholestasis, characterized by bile duct paucity on liver biopsy; congenital cardiac defects, primarily involving the pulmonary arteries; posterior embryotoxon in the eye; typical facial features; and butterfly vertebrae. Renal and central nervous abnormalities also occur. Mortality is approximately 10%, with vascular accidents, cardiac disease, and liver disease accounting for most of the deaths. [from GTR]

MedGen UID:
365434
Concept ID:
C1956125
Disease or Syndrome
2.

Dysplasia

A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
3.

Arteriohepatic dysplasia

Alagille syndrome (ALGS) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The clinical features are highly variable, even within families. The major clinical manifestations of ALGS are cholestasis, characterized by bile duct paucity on liver biopsy; congenital cardiac defects, primarily involving the pulmonary arteries; posterior embryotoxon in the eye; typical facial features; and butterfly vertebrae. Renal and central nervous abnormalities also occur. Mortality is approximately 10%, with vascular accidents, cardiac disease, and liver disease accounting for most of the deaths. [from GTR]

MedGen UID:
39014
Concept ID:
C0085280
Congenital Abnormality
4.

Hearing impairment

A general term for the complete or partial loss of the ability to hear from one or both ears. [from MeSH]

MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
5.

Extrahepatic cholestasis

Impairment of bile flow due to obstruction in large bile ducts outside the liver. [from HPO]

MedGen UID:
2241
Concept ID:
C0005398
Disease or Syndrome
6.

Mild conductive hearing impairment

A mild form of conductive hearing impairment. [from HPO]

MedGen UID:
867178
Concept ID:
C4021536
Finding
7.

Hearing Loss

A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. [from NCI]

MedGen UID:
854601
Concept ID:
C3887873
Finding
8.

Heart abnormalities

MedGen UID:
852386
Concept ID:
CN235078
Finding
9.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
353811
Concept ID:
C1708511
Genetic Function
10.

Flat face

Absence of concavity or convexity of the face when viewed in profile. [from HPO]

MedGen UID:
342829
Concept ID:
C1853241
Finding
11.

Flat face

Absence of concavity or convexity of the face when viewed in profile. [from HPO]

MedGen UID:
336577
Concept ID:
C1849339
12.

Mild

Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
268697
Concept ID:
C1513302
Finding
13.

Autosomal dominant inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
14.

Multisystem disorder

MedGen UID:
107853
Concept ID:
C0559758
Disease or Syndrome
15.

Frequent

Coming at short intervals or in great quantities. [from NCI]

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
16.

Transmission

A passage or transfer, as of a disease from one individual to another. [from NCI]

MedGen UID:
66979
Concept ID:
C0242781
Pathologic Function
17.

Lateral

Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
64373
Concept ID:
C0205093
Spatial Concept
18.

Obstruction

Blockage of the normal flow of the contents of an anatomical passageway. [from NCI]

MedGen UID:
18135
Concept ID:
C0028778
Pathologic Function
19.

Conductive hearing impairment

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. [from HPO]

MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
20.

Hearing impairment

A condition in which a person partially loses the ability to hear sounds in one or both ears. [from NCI]

MedGen UID:
5453
Concept ID:
C0018772
Finding
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