Al-gazali-bakalinova syndrome

Preferred Label : Al-gazali-bakalinova syndrome;

Symbol : AGBK;

CISMeF acronym : AGBK; MMEDF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macrocephaly with multiple epiphyseal dysplasia and distinctive facies; MMEDF;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kinesin family member 7 gene (KIF7, 611254.0009);

Prefixed ID : #607131;

Détails

Origin ID

607131;

UMLS CUI

C1846722;

Currated CISMeF NLP mapping
- Multiple epiphyseal dysplasia Al-Gazali type (disorder) [SNOMED CT concept]
- Multiple epiphyseal dysplasia, Al-Gazali type [ICD-11 More detail]
- Multiple epiphyseal dysplasia, Al-Gazali type [ORDO Disease]
- macrocephaly with multiple epiphyseal dysplasia and distinctive facies [MeSH concept]
- macrocephaly with multiple epiphyseal dysplasia and distinctive facies [MeSH Supplementary Concept]
Genes related to phenotype
- Kinesin family member 7 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Clinodactyly [HPO term]
- Frontal bossing [HPO term]
- Genu valgum [HPO term]
- Hypertelorism [HPO term]
- Inguinal hernia [HPO term]
- Lymphedema [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Molar tooth sign on MRI [HPO term]
- Motor delay [HPO term]
- Multiple epiphyseal dysplasia [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Short neck [HPO term]
ORDO concept(s)
- Multiple epiphyseal dysplasia, Al-Gazali type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple epiphyseal dysplasia, Al-Gazali type [ORDO Disease]
- macrocephaly with multiple epiphyseal dysplasia and distinctive facies [MeSH Supplementary Concept]
- macrocephaly with multiple epiphyseal dysplasia and distinctive facies [MeSH concept]

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