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DO Term : Meckel syndrome [DOID:0050778] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
GARD:3436,
UMLS_CUI:C0311245,
Meckel-Gruber syndrome,
ORDO:564,
OMIM:PS249000,
ICD9CM:753.1,
PS249000,
SNOMEDCT_US_2023_03_01:204954005

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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