Micromelic bone dysplasia with cloverleaf skull

Preferred Label : Micromelic bone dysplasia with cloverleaf skull;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant vs. recessive;

Prefixed ID : 156830;

Details

Origin ID

156830;

UMLS CUI

C1834928;

Currated CISMeF NLP mapping
- Cloverleaf skull micromelia thoracic dysplasia [MeSH concept]
- cloverleaf skull micromelia thoracic dysplasia [MeSH Supplementary Concept]
False automatic mappings
- Thanatophoric dysplasia type 2 [ORDO Disease]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cloverleaf skull [HPO term]
- Micromelia [HPO term]
ORDO concept(s)
- Thanatophoric dysplasia [ORDO Disease]
- Thanatophoric dysplasia type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cloverleaf skull micromelia thoracic dysplasia [MeSH concept]
- cloverleaf skull micromelia thoracic dysplasia [MeSH Supplementary Concept]

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