Thumbs, stiff, with brachydactyly type a1 and developmental delay

Preferred Label : Thumbs, stiff, with brachydactyly type a1 and developmental delay;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 188201;

Details

Origin ID

188201;

UMLS CUI

C1861166;

Automatic exact mappings (from CISMeF team)
- Piussan Lenaerts Mathieu syndrome [MeSH concept]
- Thumb stiffness-brachydactyly-intellectual disability syndrome [ORDO Disease]
- piussan lenaerts mathieu syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- thumbs, stiff, with brachydactyly type A1 and developmental delay [MeSH concept]
- thumbs, stiff, with brachydactyly type A1 and developmental delay [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Type A1 brachydactyly [HPO term]
ORDO concept(s)
- Thumb stiffness-brachydactyly-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- thumbs, stiff, with brachydactyly type A1 and developmental delay [MeSH Supplementary Concept]
- thumbs, stiff, with brachydactyly type A1 and developmental delay [MeSH concept]

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