Spondyloepimetaphyseal dysplasia, X-linked

Preferred Label : Spondyloepimetaphyseal dysplasia, X-linked;

Symbol : SEMDX;

CISMeF acronym : SEMDX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Semd, X-linked;

Inheritance : X-linked recessive;

Prefixed ID : #300106;

Détails

Origin ID

300106;

UMLS CUI

C1848097;

Automatic exact mappings (from CISMeF team)
- X-Linked Spondyloepimetaphyseal Dysplasia [NCIt concept]
Currated CISMeF NLP mapping
- Spondyloepimetaphyseal dysplasia, X-linked [ICD-11 More detail]
- X-Linked Spondyloepimetaphyseal Dysplasia [NCIt concept]
- X-linked spondyloepimetaphyseal dysplasia [DO Concept]
- X-linked spondyloepimetaphyseal dysplasia [ORDO Disease]
- X-linked spondyloepimetaphyseal dysplasia (disorder) [SNOMED CT concept]
- spondyloepimetaphyseal dysplasia, X-Linked [MeSH concept]
- spondyloepimetaphyseal dysplasia, X-Linked [MeSH Supplementary Concept]
Genes related to phenotype
- Biglycan [OMIM gene]
HPO term(s)
- Anterior wedging of T11 [HPO term]
- Anterior wedging of T12 [HPO term]
- Brachydactyly [HPO term]
- Broad long bone diaphyses [HPO term]
- Broad long bones [HPO term]
- Broad metacarpals [HPO term]
- Broad phalanx [HPO term]
- Cone-shaped distal radial epiphysis [HPO term]
- Cone-shaped epiphyses fused within their metaphyses [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Cone-shaped metacarpal epiphyses [HPO term]
- Coxa valga [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Flared iliac wing [HPO term]
- Flat acetabular roof [HPO term]
- Horizontal acetabular roof [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Kyphosis [HPO term]
- Limited elbow extension [HPO term]
- Long fibula [HPO term]
- Long ulna [HPO term]
- Lumbar hyperlordosis [HPO term]
- Metaphyseal irregularity [HPO term]
- Mild maxillary hypoplasia [HPO term]
- Mild odontoid hypoplasia [HPO term]
- Narrow pelvis bone [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Posterior rib cupping [HPO term]
- Prominent styloid process of ulna [HPO term]
- Radial deviation of the hand [HPO term]
- Severe short-trunked dwarfism [HPO term]
- Short clavicles [HPO term]
- Short feet [HPO term]
- Short foot [HPO term]
- Short long bone [HPO term]
- Short metacarpal [HPO term]
- Short palm [HPO term]
- Short phalanx of finger [HPO term]
- Short, broad metacarpals [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- X-linked recessive inheritance [HPO term]
- moderate limitation of elbow extension [HPO term]
- short, slender long bones [HPO term]
Not associated HPO term(s)
- Abnormality of the face [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- X-linked spondyloepimetaphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia, X-linked [ICD-11 More detail]
- X-Linked Spondyloepimetaphyseal Dysplasia [NCIt concept]
- X-linked spondyloepimetaphyseal dysplasia [ORDO Disease]
- X-linked spondyloepimetaphyseal dysplasia [DO Concept]
- X-linked spondyloepimetaphyseal dysplasia (disorder) [SNOMED CT concept]
- spondyloepimetaphyseal dysplasia, X-Linked [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, X-Linked [MeSH concept]

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