Dyschondrosteosis and nephritis

Preferred Label : Dyschondrosteosis and nephritis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant vs. pseudoautosomal;

Prefixed ID : 127350;

Details

Origin ID

127350;

UMLS CUI

C1851986;

Currated CISMeF NLP mapping
- Dyschondrosteosis-nephritis syndrome [ORDO Disease]
- dyschondrosteosis and nephritis [MeSH concept]
- dyschondrosteosis and nephritis [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Genu varus [HPO term]
- Madelung deformity [HPO term]
- Mesomelic dwarfism [HPO term]
- Mesomelic short stature [HPO term]
- Nephritis [HPO term]
- Radial bowing [HPO term]
- Short forearm [HPO term]
- Short tibia [HPO term]
- Ulnar bowing [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Dyschondrosteosis-nephritis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyschondrosteosis-nephritis syndrome [ORDO Disease]
- dyschondrosteosis and nephritis [MeSH Supplementary Concept]
- dyschondrosteosis and nephritis [MeSH concept]

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