Brain malformations with or without urinary tract defects

Preferred Label : Brain malformations with or without urinary tract defects;

Symbol : BRMUTD;

CISMeF acronym : BRMUTD;

Type : Phenotype, molecular basis known;

Included titles and symbols : Chromosome 1p32-p31 deletion syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear factor I/A gene (NFIA, 600727.0001);

Prefixed ID : #613735;

Détails

Origin ID

613735;

UMLS CUI

C4478940;

Currated CISMeF NLP mapping
- 1p31p32 microdeletion syndrome [ORDO Disease]
- 1p31p32 microdeletion syndrome (disorder) [SNOMED CT concept]
- NFIA-related disorder [DO Concept]
DO Cross reference
- NFIA-related disorder [DO Concept]
Genes related to phenotype
- Nuclear factor I/a [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad face [HPO term]
- Broad forehead [HPO term]
- Chiari type I malformation [HPO term]
- Cognitive impairment [HPO term]
- Cutis marmorata [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hydronephrosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Narrow mouth [HPO term]
- Renal hypoplasia [HPO term]
- Seizure [HPO term]
- Short chin [HPO term]
- Short nose [HPO term]
- Sporadic [HPO term]
- Syringomyelia [HPO term]
- Thin upper lip vermilion [HPO term]
- Ventriculomegaly [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- 1p31p32 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- NFIA-related disorder [DO Concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients