Spondyloepiphyseal dysplasia tarda, autosomal recessive

Preferred Label : Spondyloepiphyseal dysplasia tarda, autosomal recessive;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive; other autosomal dominant, autosomal recessive, and X-linked forms of spondyloepiphyseal dysplasia are known;

Prefixed ID : %271600;

Details

Origin ID

271600;

UMLS CUI

C1849054;

Broader ORDO disease(s)
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [ORDO Disease]
- Spondyloepiphyseal dysplasia tarda [ORDO Disease]
Currated CISMeF NLP mapping
- spondyloepiphyseal dysplasia tarda, autosomal recessive [MeSH concept]
- spondyloepiphyseal dysplasia tarda, autosomal recessive [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Flattened metacarpal heads [HPO term]
- Flattened metatarsal heads [HPO term]
- Hip osteoarthritis [HPO term]
- Osteoarthritis [HPO term]
- Platyspondyly [HPO term]
- Short stature [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Spondyloepiphyseal dysplasia tarda [HPO term]
ORDO concept(s)
- Spondyloepiphyseal dysplasia tarda [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spondyloepiphyseal dysplasia tarda, autosomal recessive [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda, autosomal recessive [MeSH concept]

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