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Metadata
ID DOID:0112287
Name spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
Definition A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.
https://pubmed.ncbi.nlm.nih.gov/17515304/
Xrefs

GARD:10629

MESH:C567128

MIM:611717

ORDO:163654

SNOMEDCT_US_2023_03_01:718765003

UMLS_CUI:C2673649

Subsets

DO_rare_slim

Synonyms

Fantasy Island syndrome [EXACT]

SED-BDS [EXACT]

SED-brachydactyly and distinctive speech [EXACT]

spondyloepiphyseal dysplasia, Cantu type [EXACT]

Tattoo dysplasia [EXACT]

Parent Relationships

is_a spondyloepiphyseal dysplasia

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