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DO Term : acrorenal syndrome [DOID:0060347] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes.
  • synonyms:
  • OMIM:102520,
  • MESH:C563159,
  • 201310,
  • UMLS_CUI:C3495490,
  • 102520,
  • OMIM:201310,
  • SNOMEDCT_US_2023_03_01:720458005
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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