Acampomelic Campomelic Dysplasia

Preferred Label : Acampomelic Campomelic Dysplasia;

NCIt related terms : Acampomelic Campomelic Dysplasia (AQ);

Alternative definition : NICHD: A variant of campomelic dysplasia characterized by the absence of skeletal dysplasia.;

Details

Origin ID

C120205;

UMLS CUI

C1861923;

Currated CISMeF NLP mapping
- acampomelic campomelic dysplasia [MeSH concept]
DO Cross reference
- campomelic dysplasia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- acampomelic campomelic dysplasia [MeSH concept]
Validated automatic mappings to NTBT
- Campomelic dysplasia [OMIM Phenotype]
- campomelic dysplasia [DO Concept]
- campomelic dysplasia [MeSH Descriptor]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SOX9 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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