Spondylometaphyseal dysplasia, kozlowski type

Preferred Label : Spondylometaphyseal dysplasia, kozlowski type;

Symbol : SMDK;

CISMeF acronym : SMDK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Smd, kozlowski type;

Description : SMD Kozlowski (SMDK) is an autosomal dominant disorder characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles (Krakow et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0002);

Prefixed ID : #184252;

Details

Origin ID

184252;

UMLS CUI

C0265280;

Automatic exact mappings (from CISMeF team)
- spondylometaphyseal dysplasia Kozlowski type [DO Concept]
Currated CISMeF NLP mapping
- Kozlowski spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Kozlowski type [ICD-11 More detail]
- Spondylometaphyseal dysplasia, Kozlowski type [MeSH concept]
- Spondylometaphyseal dysplasia, Kozlowski type [ORDO Disease]
- kozlowski spondylometaphyseal dysplasia [SNOMED Notion]
- spondylometaphyseal dysplasia, kozlowski type [MeSH Supplementary Concept]
DO Cross reference
- spondylometaphyseal dysplasia Kozlowski type [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily V, member 4 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormal rib cage morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Carpal bone hypoplasia [HPO term]
- Childhood onset [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Coxa vara [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Dumbbell-shaped femur [HPO term]
- Elbow flexion contracture [HPO term]
- Enlarged joints [HPO term]
- Flared iliac wing [HPO term]
- Flared metaphysis [HPO term]
- Flat acetabular roof [HPO term]
- Flat, irregular acetabula [HPO term]
- Halberd-shaped pelvis [HPO term]
- High forehead [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Infantile onset [HPO term]
- Irregular acetabular roof [HPO term]
- Irregular capital femoral epiphysis [HPO term]
- Irregular, rachitic-like metaphyses [HPO term]
- Juvenile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Narrow greater sciatic notch [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Scoliosis [HPO term]
- Severe carpal ossification delay [HPO term]
- Short neck [HPO term]
- Short-trunked dwarfism [HPO term]
- Spondylometaphyseal dysplasia [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Spondylometaphyseal dysplasia, Kozlowski type [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kozlowski spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Kozlowski type [ORDO Disease]
- Spondylometaphyseal dysplasia, Kozlowski type [MeSH concept]
- Spondylometaphyseal dysplasia, Kozlowski type [ICD-11 More detail]
- kozlowski spondylometaphyseal dysplasia [SNOMED Notion]
- spondylometaphyseal dysplasia Kozlowski type [DO Concept]
- spondylometaphyseal dysplasia, kozlowski type [MeSH Supplementary Concept]

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