Metaphyseal chondrodysplasia, schmid type

Preferred Label : Metaphyseal chondrodysplasia, schmid type;

Symbol : MCDS;

CISMeF acronym : MCDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondylometaphyseal dysplasia, japanese type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen X, alpha-1 polypeptide gene (COL10A1, 120110.0001);

Prefixed ID : #156500;

Details

Origin ID

156500;

UMLS CUI

C0265289;

Automatic exact mappings (from CISMeF team)
- Schmid metaphyseal chondrodysplasia [DO Concept]
Currated CISMeF NLP mapping
- Metaphyseal chondrodysplasia Schmid type [MeSH concept]
- Metaphyseal chondrodysplasia, Schmid type [ICD-11 More detail]
- Metaphyseal chondrodysplasia, Schmid type [ORDO Disease]
- Metaphyseal chondrodysplasia, Schmid type (disorder) [SNOMED CT concept]
- metaphyseal chondrodysplasia schmid type [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, schmid type [SNOMED Notion]
DO Cross reference
- Schmid metaphyseal chondrodysplasia [DO Concept]
Genes related to phenotype
- Collagen, type X, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad femoral neck [HPO term]
- Broad middle phalanx of finger [HPO term]
- Childhood onset [HPO term]
- Coxa vara [HPO term]
- Distal tibial bowing [HPO term]
- Enlargement of the proximal femoral epiphysis [HPO term]
- Femoral bowing [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Irregular acetabular roof [HPO term]
- Irregular vertebral endplates [HPO term]
- Lumbar hyperlordosis [HPO term]
- Metaphyseal chondrodysplasia [HPO term]
- Metaphyseal cupping of metacarpals [HPO term]
- Metaphyseal cupping of proximal phalanges [HPO term]
- Metaphyseal irregularity [HPO term]
- Metaphyseal sclerosis [HPO term]
- Metaphyseal widening [HPO term]
- Mild platyspondyly [HPO term]
- Mild short stature [HPO term]
- Mild to moderate short stature [HPO term]
- Platyspondyly [HPO term]
- Proportionate short stature [HPO term]
- Proximal femoral metaphyseal abnormality [HPO term]
- Scoliosis [HPO term]
- Short distal phalanx of finger [HPO term]
- Short middle phalanx of finger [HPO term]
- Short stature [HPO term]
- Short, wide phalanges [HPO term]
- Short/broad middle phalanges [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Metaphyseal chondrodysplasia, Schmid type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal chondrodysplasia Schmid type [MeSH concept]
- Metaphyseal chondrodysplasia, Schmid type [ORDO Disease]
- Metaphyseal chondrodysplasia, Schmid type [ICD-11 More detail]
- Metaphyseal chondrodysplasia, Schmid type (disorder) [SNOMED CT concept]
- metaphyseal chondrodysplasia schmid type [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, schmid type [SNOMED Notion]

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