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Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly (MONDO:0014577)

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.

Overview

Category

Ontology ID

Internal:15575

Synonyms

SRTD13

short-rib thoracic dysplasia 13 with or without polydactyly

Mapped terms

DOID:0110093

GARD:0016079

MEDGEN:898712

OMIM:616300

UMLS:C4225378

Child terms

Unknown children.