Split-Hand/Foot Malformation Type 5

Preferred Label : Split-Hand/Foot Malformation Type 5;

NCIt synonyms : Split-Hand/Foot Malformation 5; Split Hand Foot Malformation Type 5;

NCIt definition : Split-hand/foot malformation mapped to chromosome 2q31.;

Details

Origin ID

C75002;

UMLS CUI

C1847622;

Currated CISMeF NLP mapping
- Split-Hand-Foot Malformation 5 [MeSH concept]
- Split-Hand-Foot Malformation 5 [MeSH Supplementary Concept]
- Split-hand/foot malformation 5 [OMIM Phenotype]
- split hand-foot malformation 5 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Split-Hand-Foot Malformation 5 [MeSH Supplementary Concept]
- Split-Hand-Foot Malformation 5 [MeSH concept]
- Split-hand/foot malformation 5 [OMIM Phenotype]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 2 [NCIt concept]

Keyword's position in hierarchy(ies) :

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