Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual development

Preferred Label : Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Folate deficiency; High sweat electrolyte;

Prefixed ID : 219721;

Details

Origin ID

219721;

UMLS CUI

C3806255;

Currated CISMeF NLP mapping
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome [ORDO Disease]
- Lubani Al Saleh Teebi syndrome [MeSH concept]
- lubani al saleh teebi syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Biliary cirrhosis [HPO term]
- Biliary tract obstruction [HPO term]
- Cor pulmonale [HPO term]
- Diarrhea [HPO term]
- Distal intestinal obstruction syndrome [HPO term]
- Emphysema [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Frontal bossing [HPO term]
- Gastritis [HPO term]
- Hypercalciuria [HPO term]
- Hypospadias [HPO term]
- Infertility [HPO term]
- Intellectual disability [HPO term]
- Large earlobe [HPO term]
- Long face [HPO term]
- Meconium ileus [HPO term]
- Megaloblastic anemia [HPO term]
- Micrognathia [HPO term]
- Microscopic nephrocalcinosis [HPO term]
- Pancreatic insufficiency [HPO term]
- Prominent ear lobes [HPO term]
- Recurrent bronchopulmonary infections [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Reduced blood folate concentration [HPO term]
- Shawl scrotum [HPO term]
- Telecanthus [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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