Oculoskeletodental syndrome

Preferred Label : Oculoskeletodental syndrome;

Symbol : OCSKD;

CISMeF acronym : OCSKD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataracts, early-onset, with skeletal and dental anomalies;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphatidylinositol 3-kinase, class 2, alpha gene (PIK3C2A, 603601.0001);

Laboratory abnormalities : Hypercalcemia; Hypercalciuria; Elevated urinary mucopolysaccharide; Hypocalcemia;

Prefixed ID : #618440;

Détails

Origin ID

618440;

UMLS CUI

C5193101;

Currated CISMeF NLP mapping
- Oculocerebrodental syndrome (disorder) [SNOMED CT concept]
- Oculoskeletodental syndrome [ORDO Disease]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, class 2, alpha [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad columella [HPO term]
- Coarse facial features [HPO term]
- Cryptorchidism [HPO term]
- Delayed skeletal maturation [HPO term]
- Developmental cataract [HPO term]
- Elbow flexion contracture [HPO term]
- Epicanthus [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- Hypercalcemia [HPO term]
- Hypercalciuria [HPO term]
- Hypocalcemia [HPO term]
- Hypothyroidism [HPO term]
- Lacunar stroke [HPO term]
- Low anterior hairline [HPO term]
- Low posterior hairline [HPO term]
- Macroglossia [HPO term]
- Mucopolysacchariduria [HPO term]
- Oligodontia [HPO term]
- Protein-losing enteropathy [HPO term]
- Renal agenesis [HPO term]
- Scoliosis [HPO term]
- Short femoral neck [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Splenomegaly [HPO term]
- Thoracic hypoplasia [HPO term]
- Thoracic kyphosis [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Oculoskeletodental syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocerebrodental syndrome (disorder) [SNOMED CT concept]

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

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