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DO Term : Meckel syndrome 7 [DOID:0070121] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1.
  • synonyms:
  • 267010,
  • ORDO:3032,
  • OMIM:267010,
  • SNOMEDCT_US_2023_03_01:773737004,
  • Meckel-Gruber syndrome, type 7,
  • MESH:C537756,
  • UMLS_CUI:C2673885,
  • MKS7
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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