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Items: 1 to 20 of 24

1.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
2.

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
3.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

Frequency

MedGen UID:
1381421
Concept ID:
C4321352
Intellectual Product
5.

Autosomal Dominant Disorder

An inherited disorder that manifests when one copy of a mutated gene is present. [from NCI]

MedGen UID:
859583
Concept ID:
C3899989
Disease or Syndrome
6.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
7.

Mild

Gentle or temperate in nature or degree. [from NCI]

MedGen UID:
422477
Concept ID:
C2945599
Qualitative Concept
8.

Variable expressivity

A variable severity of phenotypic features. [from HPO]

MedGen UID:
348349
Concept ID:
C1861403
Finding
9.

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
10.

Aicardi Goutieres syndrome

Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known. [from GTR]

MedGen UID:
97953
Concept ID:
C0393591
Disease or Syndrome
11.

Abnormality of the liver

A non-neoplastic or neoplastic disorder that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and polycystic liver disease. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and angiosarcoma. [from NCI]

MedGen UID:
9792
Concept ID:
C0023895
Disease or Syndrome
12.

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
13.

Abnormality of the cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
14.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
15.

Heart, malformation of

An anatomical defect of a gross structure of the heart. [from NCI]

MedGen UID:
6748
Concept ID:
C0018798
Congenital Abnormality
16.

Intrahepatic cholestasis

Impairment of bile flow due to injury to the HEPATOCYTES; BILE CANALICULI; or the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). [from MeSH]

MedGen UID:
3042
Concept ID:
C0008372
Disease or Syndrome
17.

Disorder of cardiovascular system

A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. [from NCI]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
18.

Disorder of bile duct

A non-neoplastic or neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples of non-neoplastic disorders include cholangitis and biliary atresia. Representative examples of neoplastic disorders include extrahepatic bile duct adenoma and cholangiocarcinoma. [from NCI]

MedGen UID:
2240
Concept ID:
C0005395
Disease or Syndrome
19.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
20.

Cholestasis

Impairment of bile flow due to obstruction in bile ducts. [from HPO]

MedGen UID:
925
Concept ID:
C0008370
Disease or Syndrome
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