Silverman-Handmaker type dyssegmental dysplasia
osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has material basis in homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36
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Silverman-Handmaker type dyssegmental dysplasia
Summary
Silverman-Handmaker type dyssegmental dysplasia is a developmental defect during embryogenesis[1].
Key Facts
- Silverman-Handmaker type dyssegmental dysplasia's instance of is recorded as developmental defect during embryogenesis[2].
- Silverman-Handmaker type dyssegmental dysplasia's instance of is recorded as rare disease[3].
- Silverman-Handmaker type dyssegmental dysplasia's instance of is recorded as class of disease[4].
- Silverman-Handmaker type dyssegmental dysplasia's subclass of is recorded as osteochondrodysplasia[5].
- Silverman-Handmaker type dyssegmental dysplasia's subclass of is recorded as dyssegmental dysplasia[6].
- Silverman-Handmaker type dyssegmental dysplasia's subclass of is recorded as perlecan-related bone disorder[7].
- Silverman-Handmaker type dyssegmental dysplasia's subclass of is recorded as genetic disease[8].
- Silverman-Handmaker type dyssegmental dysplasia's MeSH descriptor ID is recorded as C537998[9].
- Silverman-Handmaker type dyssegmental dysplasia's OMIM ID is recorded as 224410[10].
- Silverman-Handmaker type dyssegmental dysplasia's Disease Ontology ID is recorded as DOID:0090032[11].
- Silverman-Handmaker type dyssegmental dysplasia's Orphanet ID is recorded as 1865[12].
- Silverman-Handmaker type dyssegmental dysplasia's ICD-9-CM is recorded as 759.89[13].
- Silverman-Handmaker type dyssegmental dysplasia's health specialty is recorded as medical genetics[14].
- Silverman-Handmaker type dyssegmental dysplasia's genetic association is recorded as HSPG2[15].
- Silverman-Handmaker type dyssegmental dysplasia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090032[16].
- Silverman-Handmaker type dyssegmental dysplasia's exact match is recorded as http://identifiers.org/doid/DOID:0090032[17].
- Silverman-Handmaker type dyssegmental dysplasia's UMLS CUI is recorded as C1857100[18].
- Silverman-Handmaker type dyssegmental dysplasia's UMLS CUI is recorded as C0432208[19].
- Silverman-Handmaker type dyssegmental dysplasia's ICD-10-CM is recorded as Q77.7[20].
- Silverman-Handmaker type dyssegmental dysplasia's GARD rare disease ID is recorded as 2026[21].
- Silverman-Handmaker type dyssegmental dysplasia's on focus list of Wikimedia project is recorded as WikiProject Medicine[22].
- Silverman-Handmaker type dyssegmental dysplasia's Mondo ID is recorded as MONDO_0009140[23].
- Silverman-Handmaker type dyssegmental dysplasia's UniProt disease ID is recorded as DI-01512[24].