hypoplastic tibiae-postaxial polydactyly syndrome
a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands
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hypoplastic tibiae-postaxial polydactyly syndrome
Summary
hypoplastic tibiae-postaxial polydactyly syndrome is a rare disease[1].
Key Facts
- hypoplastic tibiae-postaxial polydactyly syndrome's instance of is recorded as rare disease[2].
- hypoplastic tibiae-postaxial polydactyly syndrome's instance of is recorded as class of disease[3].
- hypoplastic tibiae-postaxial polydactyly syndrome's subclass of is recorded as autosomal dominant disease[4].
- hypoplastic tibiae-postaxial polydactyly syndrome's subclass of is recorded as syndrome[5].
- hypoplastic tibiae-postaxial polydactyly syndrome's MeSH descriptor ID is recorded as C535564[6].
- hypoplastic tibiae-postaxial polydactyly syndrome's OMIM ID is recorded as 188740[7].
- hypoplastic tibiae-postaxial polydactyly syndrome's Disease Ontology ID is recorded as DOID:0111564[8].
- hypoplastic tibiae-postaxial polydactyly syndrome's symptoms and signs is recorded as mesomelia[9].
- hypoplastic tibiae-postaxial polydactyly syndrome's Orphanet ID is recorded as 3332[10].
- hypoplastic tibiae-postaxial polydactyly syndrome's different from is recorded as Werner syndrome[11].
- hypoplastic tibiae-postaxial polydactyly syndrome's genetic association is recorded as LMBR1[12].
- hypoplastic tibiae-postaxial polydactyly syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3332[13].
- hypoplastic tibiae-postaxial polydactyly syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111564[14].
- hypoplastic tibiae-postaxial polydactyly syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111564[15].
- hypoplastic tibiae-postaxial polydactyly syndrome's UMLS CUI is recorded as C1861099[16].
- hypoplastic tibiae-postaxial polydactyly syndrome's ICD-10-CM is recorded as Q74.8[17].
- hypoplastic tibiae-postaxial polydactyly syndrome's GARD rare disease ID is recorded as 8309[18].
- hypoplastic tibiae-postaxial polydactyly syndrome's Mondo ID is recorded as MONDO_0018052[19].