Desbuquois dysplasia 2

Preferred Label : Desbuquois dysplasia 2;

Symbol : DBQD2;

CISMeF acronym : DBQD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Baratela-scott syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Cause by mutation in the xylosyltransferase-1 gene (XYLT1, 608124.0002);

Prefixed ID : #615777;

Détails

Origin ID

615777;

UMLS CUI

C4014294;

DO Cross reference
- Desbuquois dysplasia [DO Concept]
Genes related to phenotype
- Xylosyltransferase 1 [OMIM gene]
HPO term(s)
- Advanced ossification of carpal bones [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Blue sclerae [HPO term]
- Broad foot [HPO term]
- Broad thumb [HPO term]
- Cleft palate [HPO term]
- Coarse facial features [HPO term]
- Coxa valga [HPO term]
- Cutaneous syndactyly [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Epiphyseal dysplasia [HPO term]
- Fetal onset [HPO term]
- Flat acetabular roof [HPO term]
- Flat face [HPO term]
- Genu varum [HPO term]
- Global developmental delay [HPO term]
- Hip dislocation [HPO term]
- Hypodontia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint laxity [HPO term]
- Knee dislocation [HPO term]
- Long philtrum [HPO term]
- Lumbar hyperlordosis [HPO term]
- Metaphyseal widening [HPO term]
- Microcephaly [HPO term]
- Monkey wrench femoral neck [HPO term]
- Narrow chest [HPO term]
- Neonatal respiratory distress [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Platyspondyly [HPO term]
- Postnatal growth retardation [HPO term]
- Proptosis [HPO term]
- Radial head subluxation [HPO term]
- Relative macrocephaly [HPO term]
- Round face [HPO term]
- Severe short stature [HPO term]
- Short clavicles [HPO term]
- Short long bone [HPO term]
- Short metacarpal [HPO term]
- Short neck [HPO term]
- Short phalanx of finger [HPO term]
- Single transverse palmar crease [HPO term]
- Synophrys [HPO term]
- Toe clinodactyly [HPO term]
- Truncal obesity [HPO term]
ORDO concept(s)
- Desbuquois syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Desbuquois dysplasia [DO Concept]
- Desbuquois syndrome [ORDO Disease]

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

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