Spondyloepimetaphyseal dysplasia, DI rocco type

Preferred Label : Spondyloepimetaphyseal dysplasia, DI rocco type;

Symbol : SEMDDR;

CISMeF acronym : SEMDDR;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the UFM1-specific peptidase-2 gene (UFSP2, 611482.0002);

Prefixed ID : #617974;

Details

Origin ID

617974;

UMLS CUI

C4693799;

Genes related to phenotype
- Ufm1-specific peptidase 2 [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Genu varum [HPO term]
- Irregular acetabular roof [HPO term]
- Metaphyseal dysplasia [HPO term]
- Platyspondyly [HPO term]
- Short stature [HPO term]
- Waddling gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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