Spondyloepiphyseal dysplasia tarda with characteristic facies

Preferred Label : Spondyloepiphyseal dysplasia tarda with characteristic facies;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 600093;

Details

Origin ID

600093;

UMLS CUI

C1838653;

Broader ORDO disease(s)
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [ORDO Disease]
- Spondyloepiphyseal dysplasia tarda [ORDO Disease]
Currated CISMeF NLP mapping
- spondyloepiphyseal dysplasia tarda with characteristic facies [MeSH concept]
- spondyloepiphyseal dysplasia tarda with characteristic facies [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad nasal root and tip [HPO term]
- Broad nasal tip [HPO term]
- Broad philtrum [HPO term]
- Flattened knee epiphyses [HPO term]
- Full lips [HPO term]
- Global developmental delay [HPO term]
- Microcephaly [HPO term]
- Short philtrum [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Spondyloepiphyseal dysplasia tarda [HPO term]
- Thick lower lip vermilion [HPO term]
- Thick upper lip vermilion [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spondyloepiphyseal dysplasia tarda with characteristic facies [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda with characteristic facies [MeSH concept]

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