Meckel syndrome

Term ID

DOID:0050778

Synonyms

Meckel-Gruber syndrome

Definition

A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. (2)

References

GARD:3436
ICD9CM:753.1
OMIM:PS249000
ORDO:564
SNOMEDCT_US_2023_03_01:204954005
UMLS_CUI:C0311245

Ontology

Human Disease ( DOID:0050778 )

Relationships

is a type of: ciliopathy

ciliopathy Show first 5 Terms
has subtype: Meckel syndrome 1 Meckel syndrome 2 Meckel syndrome 3 Meckel syndrome 4 Meckel syndrome 5 ... Show All 9 Terms

Meckel syndrome 1 Meckel syndrome 2 Meckel syndrome 3 Meckel syndrome 4 Meckel syndrome 5 Meckel syndrome 6 Meckel syndrome 7 Meckel syndrome 8 Meckel syndrome 13 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations