Rowley-rosenberg syndrome

Preferred Label : Rowley-rosenberg syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Growth retardation, pulmonary hypertension, and amino aciduria;

Inheritance : Autosomal recessive;

Prefixed ID : 268500;

Details

Origin ID

268500;

UMLS CUI

C0268426;

Currated CISMeF NLP mapping
- Rowley-Rosenberg syndrome [MeSH concept]
- Rowley-Rosenberg syndrome [MeSH Supplementary Concept]
- Rowley-Rosenberg syndrome (disorder) [SNOMED CT concept]
- rowley-rosenberg syndrome [SNOMED Notion]
HPO term(s)
- Abnormality of the musculature [HPO term]
- Aminoaciduria [HPO term]
- Atelectasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cor pulmonale [HPO term]
- Growth delay [HPO term]
- Hypertension [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Right ventricular hypertrophy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rowley-Rosenberg syndrome [MeSH Supplementary Concept]
- Rowley-Rosenberg syndrome [MeSH concept]
- Rowley-Rosenberg syndrome (disorder) [SNOMED CT concept]
- rowley-rosenberg syndrome [SNOMED Notion]

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