Disease

short-rib thoracic dysplasia 8 with or without polydactyly

Name: short-rib thoracic dysplasia 8 with or without polydactyly
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. SRTD8 SRPS6 short rib-polydactyly syndrome type VI

Definition

An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.

Synonyms

short rib-polydactyly syndrome type VI
SRPS6

Cross References

ICD10CM:Q77.2
MIM:615503

Parent Terms

asphyxiating thoracic dystrophy
autosomal recessive disease

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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