parastremmatic dwarfism
very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs
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parastremmatic dwarfism
Summary
parastremmatic dwarfism is a developmental defect during embryogenesis[1].
Key Facts
- parastremmatic dwarfism's instance of is recorded as developmental defect during embryogenesis[2].
- parastremmatic dwarfism's instance of is recorded as rare disease[3].
- parastremmatic dwarfism's instance of is recorded as class of disease[4].
- parastremmatic dwarfism's subclass of is recorded as dwarfism[5].
- parastremmatic dwarfism's subclass of is recorded as bent bone dysplasia[6].
- parastremmatic dwarfism's subclass of is recorded as TRPV4-related bone disorder[7].
- parastremmatic dwarfism's subclass of is recorded as osteochondrodysplasia[8].
- parastremmatic dwarfism's subclass of is recorded as autosomal dominant disease[9].
- parastremmatic dwarfism's MeSH descriptor ID is recorded as C537172[10].
- parastremmatic dwarfism's OMIM ID is recorded as 168400[11].
- parastremmatic dwarfism's DiseasesDB is recorded as 33541[12].
- parastremmatic dwarfism's KEGG ID is recorded as H02183[13].
- parastremmatic dwarfism's Disease Ontology ID is recorded as DOID:0111539[14].
- parastremmatic dwarfism's Orphanet ID is recorded as 2646[15].
- parastremmatic dwarfism's genetic association is recorded as TRPV4[16].
- parastremmatic dwarfism's BabelNet ID is recorded as 03034063n[17].
- parastremmatic dwarfism's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2646[18].
- parastremmatic dwarfism's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111539[19].
- parastremmatic dwarfism's exact match is recorded as http://identifiers.org/doid/DOID:0111539[20].
- parastremmatic dwarfism's UMLS CUI is recorded as C1868616[21].
- parastremmatic dwarfism's ICD-10-CM is recorded as Q87.1[22].
- parastremmatic dwarfism's GARD rare disease ID is recorded as 4222[23].
- parastremmatic dwarfism's Mondo ID is recorded as MONDO_0008196[24].
- parastremmatic dwarfism's SNOMED CT ID is recorded as 722210007[25].
- parastremmatic dwarfism's Microsoft Academic ID is recorded as 2776225670[26].