Spondyloepimetaphyseal dysplasia, genevieve type

Preferred Label : Spondyloepimetaphyseal dysplasia, genevieve type;

Symbol : SEMDG;

CISMeF acronym : SEMDG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Semd, genevieve type; Nans deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : #610442;

Details

Origin ID

610442;

UMLS CUI

C1864872;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia Genevieve type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, Genevieve type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, Genevieve type [MeSH concept]
- Spondyloepimetaphyseal dysplasia, Geneviève type [ORDO Disease]
- spondyloepimetaphyseal dysplasia, genevieve type [MeSH Supplementary Concept]
DO Cross reference
- spondyloepimetaphyseal dysplasia, Genevieve-type [DO Concept]
Genes related to phenotype
- N-acetylneuraminic acid phosphate synthase [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Abnormality of the skin [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Carpal bone hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Coarse facial features [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Epicanthus [HPO term]
- Flared irregular metaphyses [HPO term]
- Flared metaphysis [HPO term]
- Flat acetabular roof [HPO term]
- Full lips [HPO term]
- Generalized hypotonia [HPO term]
- Hirsutism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Irregular epiphyses [HPO term]
- Irregular vertebral endplates [HPO term]
- Joint laxity [HPO term]
- Long fibula [HPO term]
- Low anterior hairline [HPO term]
- Low posterior hairline [HPO term]
- Metaphyseal irregularity [HPO term]
- Microcephaly [HPO term]
- Narrow iliac wing [HPO term]
- Nystagmus [HPO term]
- Platyspondyly [HPO term]
- Poorly formed pinnae [HPO term]
- Posterior scalloping of vertebral bodies [HPO term]
- Prominent forehead [HPO term]
- Seizure [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short neck [HPO term]
- Small basal ganglia [HPO term]
- Small epiphyses [HPO term]
- Small, irregular epiphyses [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Thick lower lip vermilion [HPO term]
- Ventriculomegaly [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Spondyloepimetaphyseal dysplasia, Geneviève type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia Genevieve type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, Genevieve type [MeSH concept]
- Spondyloepimetaphyseal dysplasia, Genevieve type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, Geneviève type [ORDO Disease]
- spondyloepimetaphyseal dysplasia, genevieve type [MeSH Supplementary Concept]

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