Craniolenticulosutural dysplasia

Preferred Label : Craniolenticulosutural dysplasia;

Symbol : CLSD;

CISMeF acronym : CLSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Boyadjiev-jabs syndrome;

Description : Craniolenticulosutural dysplasia is an autosomal recessive disorder characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects (summary by Boyadjiev et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the human homolog A of the S. cerevisiae SEC23 gene (SEC23A, 610511.0001);

Prefixed ID : #607812;

Détails

Origin ID

607812;

UMLS CUI

C1843042;

Automatic exact mappings (from CISMeF team)
- Craniolenticulosutural dysplasia [ICD-11 More detail]
- craniolenticulosutural dysplasia [DO Concept]
Currated CISMeF NLP mapping
- Craniolenticulosutural dysplasia [ORDO Disease]
- Craniolenticulosutural dysplasia (disorder) [SNOMED CT concept]
- cranioenticulostructural dysplasia [Disease (Nov.)]
- craniolenticulosutural dysplasia [MeSH concept]
- craniolenticulosutural dysplasia [MeSH Supplementary Concept]
DO Cross reference
- craniolenticulosutural dysplasia [DO Concept]
Genes related to phenotype
- Sec23 homolog a, coat complex II component [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Brittle hair [HPO term]
- Capillary hemangioma [HPO term]
- Carious teeth [HPO term]
- Cleft palate [HPO term]
- Coarse hair [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Delayed eruption of teeth [HPO term]
- Esotropia [HPO term]
- Forehead hyperpigmentation [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- High iliac wing [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of teeth [HPO term]
- Joint laxity [HPO term]
- Long philtrum [HPO term]
- Long, smooth philtrum [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Narrow chest [HPO term]
- Narrow iliac wing [HPO term]
- Optic atrophy [HPO term]
- Osteopenia [HPO term]
- Pes planus [HPO term]
- Posterior Y-sutural cataract [HPO term]
- Posterior wedging of vertebral bodies [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent supraorbital ridges [HPO term]
- Punctate cataract [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Sparse hair [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide anterior fontanel [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Craniolenticulosutural dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniolenticulosutural dysplasia [ORDO Disease]
- Craniolenticulosutural dysplasia (disorder) [SNOMED CT concept]
- cranioenticulostructural dysplasia [Disease (Nov.)]
- craniolenticulosutural dysplasia [MeSH Supplementary Concept]
- craniolenticulosutural dysplasia [MeSH concept]
- craniolenticulosutural dysplasia [DO Concept]

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

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