Hemorrhagic destruction of the brain, subependymal calcification, and cataracts

Preferred Label : Hemorrhagic destruction of the brain, subependymal calcification, and cataracts;

Symbol : HDBSCC;

CISMeF acronym : HDBSCC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the junctional adhesion molecule 3 gene (JAM3, 606871.0001);

Prefixed ID : #613730;

Details

Origin ID

613730;

UMLS CUI

C3151000;

Automatic exact mappings (from CISMeF team)
- Porencephaly-microcephaly-bilateral congenital cataract syndrome [ORDO Disease]
Genes related to phenotype
- Junctional adhesion molecule 3 [OMIM gene]
HPO term(s)
- Abnormality of the kidney [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Cystic renal dysplasia [HPO term]
- Ectopic kidney [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperreflexia [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Porencephaly-microcephaly-bilateral congenital cataract syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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