Ehlers-danlos syndrome, spondylodysplastic type, 3

Preferred Label : Ehlers-danlos syndrome, spondylodysplastic type, 3;

Symbol : EDSSPD3;

CISMeF acronym : EDSSPD3; SCD-EDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SCD-EDS; Spondylocheirodysplasia, ehlers-danlos syndrome-like;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 39 (zinc transporter), member 13 gene (SLC39A13, 608735.0001);

Laboratory abnormalities : Lysyl pyridinoline/hydroxylysyl pyridinoline (LP/HP) ratio approximately 1; Normal lysyl hydroxylase activity; Normal prolyl 4-hydroxylase activity;

Prefixed ID : #612350;

Détails

Origin ID

612350;

UMLS CUI

C2676510;

CISMeF manual mappings
- Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Ehlers-Danlos syndrome spondylodysplastic type 3 [DO Concept]
- Ehlers-Danlos syndrome, spondylocheirodysplastic type [ICD-11 More detail]
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
- spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like [MeSH concept]
- spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like [MeSH Supplementary Concept]
DO Cross reference
- Ehlers-Danlos syndrome spondylodysplastic type 3 [DO Concept]
Genes related to phenotype
- Solute carrier family 39 (zinc transporter), member 13 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Blue sclerae [HPO term]
- Broad femoral neck [HPO term]
- Bruising susceptibility [HPO term]
- Camptodactyly of finger [HPO term]
- Cigarette-paper scars [HPO term]
- Delayed eruption of teeth [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Dislocated radial head [HPO term]
- Downslanted palpebral fissures [HPO term]
- Flared metaphysis [HPO term]
- Flat capital femoral epiphysis [HPO term]
- Flattened epiphysis [HPO term]
- Frontal bossing [HPO term]
- High palate [HPO term]
- Hyperextensible skin [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Irregular vertebral endplates [HPO term]
- Joint contracture of the hand [HPO term]
- Joint laxity [HPO term]
- Kyphoscoliosis [HPO term]
- Moderately short stature [HPO term]
- Motor delay [HPO term]
- Osteopenia [HPO term]
- Pes planus [HPO term]
- Platyspondyly [HPO term]
- Prominent superficial veins [HPO term]
- Short femoral neck [HPO term]
- Short metacarpal [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Short, wide femoral neck [HPO term]
- Tapered finger [HPO term]
- Thenar muscle atrophy [HPO term]
- Thin skin [HPO term]
- Waddling gait [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder) [SNOMED CT concept]
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
- spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like [MeSH Supplementary Concept]
- spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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