Dyssegmental dysplasia, silverman-handmaker type

Preferred Label : Dyssegmental dysplasia, silverman-handmaker type;

Symbol : DDSH;

CISMeF acronym : DDSH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dyssegmental dwarfism, silverman-handmaker type; Anisospondylic camptomicromelic dwarfism, silverman-handmaker type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the perlecan gene (HSPG2, 142461.0001);

Prefixed ID : #224410;

Details

Origin ID

224410;

UMLS CUI

C1857100;

Currated CISMeF NLP mapping
- Dyssegmental dysplasia [MeSH concept]
- Dyssegmental dysplasia Silverman Handmaker type (disorder) [SNOMED CT concept]
- Dyssegmental dysplasia, Silverman-Handmaker type [ICD-11 More detail]
- Dyssegmental dysplasia, Silverman-Handmaker type [ORDO Disease]
- Lethal Kniest-like syndrome (disorder) [SNOMED CT concept]
- Silverman-Handmaker type dyssegmental dysplasia [DO Concept]
- dyssegmental dysplasia [MeSH Supplementary Concept]
- lethal kniest-like syndrome [SNOMED Notion]
DO Cross reference
- Silverman-Handmaker type dyssegmental dysplasia [DO Concept]
Genes related to phenotype
- Heparan sulfate proteoglycan of basement membrane [OMIM gene]
HPO term(s)
- Abnormality of the abdominal wall [HPO term]
- Anisospondyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bowing of the long bones [HPO term]
- Calvarial skull defect [HPO term]
- Cryptorchidism [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Flat face [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Neonatal death [HPO term]
- Overgrowth [HPO term]
- Posteriorly rotated ears [HPO term]
- Pulmonary hypoplasia [HPO term]
- Short limb dwarfism [HPO term]
- Short long bone [HPO term]
- Short, bent long bones [HPO term]
- Single umbilical artery [HPO term]
- Talipes equinovarus [HPO term]
- Thoracic hypoplasia [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Dyssegmental dysplasia, Silverman-Handmaker type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyssegmental dysplasia [MeSH concept]
- Dyssegmental dysplasia Silverman Handmaker type (disorder) [SNOMED CT concept]
- Dyssegmental dysplasia, Silverman-Handmaker type [ORDO Disease]
- Dyssegmental dysplasia, Silverman-Handmaker type [ICD-11 More detail]
- Lethal Kniest-like syndrome (disorder) [SNOMED CT concept]
- Silverman-Handmaker type dyssegmental dysplasia [DO Concept]
- dyssegmental dysplasia [MeSH Supplementary Concept]
- lethal kniest-like syndrome [SNOMED Notion]

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