Pierre robin sequence with pectus excavatum and rib and scapular anomalies

Preferred Label : Pierre robin sequence with pectus excavatum and rib and scapular anomalies;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Skeletal dysplasia related to campomelic dysplasia; Campomelic dysplasia, mild;

Inheritance : Autosomal dominant;

Prefixed ID : %602196;

Details

Origin ID

602196;

UMLS CUI

C1865783;

Currated CISMeF NLP mapping
- pierre robin sequence with pectus excavatum and rib and scapular anomalies [MeSH concept]
- pierre robin sequence with pectus excavatum and rib and scapular anomalies [MeSH Supplementary Concept]
HPO term(s)
- Abnormal rib morphology [HPO term]
- Abnormal scalp morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Generalized hypotonia [HPO term]
- Hypoplastic distal segments of scapulae [HPO term]
- Hypotonia [HPO term]
- Joint hypermobility [HPO term]
- Micrognathia [HPO term]
- Pectus excavatum [HPO term]
- Pierre-Robin sequence [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Campomelic dysplasia [ORDO Disease]
Related ORDO disease(s)
- Campomelic dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- pierre robin sequence with pectus excavatum and rib and scapular anomalies [MeSH Supplementary Concept]
- pierre robin sequence with pectus excavatum and rib and scapular anomalies [MeSH concept]

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