Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification

Preferred Label : Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cerebral aneurysm-cirrhosis syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 210050;

Details

Origin ID

210050;

UMLS CUI

C1859519;

Currated CISMeF NLP mapping
- berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification [MeSH concept]
- berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral berry aneurysm [HPO term]
- Cirrhosis [HPO term]
- Emphysema [HPO term]
- Global developmental delay [HPO term]
- Hepatic failure [HPO term]
- Nonarteriosclerotic cerebral calcification [HPO term]
- Portal hypertension [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification [MeSH Supplementary Concept]
- berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification [MeSH concept]

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