Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch

Preferred Label : Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 606895;

Details

Origin ID

606895;

UMLS CUI

C1847185;

Automatic exact mappings (from CISMeF team)
- Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch [MeSH concept]
Currated CISMeF NLP mapping
- symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch [MeSH Supplementary Concept]
HPO term(s)
- Absent scaphoid [HPO term]
- Absent trapezium [HPO term]
- Absent trapezoid bone [HPO term]
- Anonychia [HPO term]
- Aplasia/Hypoplasia of the middle phalanges of the hand [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cone-shaped epiphyses of the middle phalanges of the hand [HPO term]
- Distal foot symphalangism [HPO term]
- Distal symphalangism of hands [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Microdontia [HPO term]
- Pulp calcification [HPO term]
- Short distal phalanx of finger [HPO term]
- Short middle phalanx of finger [HPO term]
- Short phalanx of finger [HPO term]
- Small nail [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch [MeSH concept]
- symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch [MeSH Supplementary Concept]

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