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Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome (MONDO:0014748)

Open Trait in OLS

Overview

Category

musculoskeletal system disorder

Ontology ID

MONDO:0014748

Internal:15740

Synonyms

SEMDFA

spondyloepimetaphyseal dysplasia, faden-Alkuraya type

spondyloepimetaphyseal dysplasia, faden-ALKURAYA type

spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis

spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis

Mapped terms

GARD:0017808

MEDGEN:1800305

OMIM:616723

Orphanet:457395

UMLS:C5568882

Child terms

Unknown children.

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