Meier-gorlin syndrome 8

Preferred Label : Meier-gorlin syndrome 8;

Symbol : MGORS8;

CISMeF acronym : MGORS8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the minichromosome maintenance complex component 5 gene (MCM5, 602696.0001);

Prefixed ID : #617564;

Details

Origin ID

617564;

UMLS CUI

C4479655;

Automatic exact mappings (from CISMeF team)
- Meier-Gorlin syndrome 8 [DO Concept]
DO Cross reference
- Meier-Gorlin syndrome 8 [DO Concept]
Genes related to phenotype
- Minichromosome maintenance complex component 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral cryptorchidism [HPO term]
- Decreased body weight [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Narrow mouth [HPO term]
- Ptosis [HPO term]
- Renal hypoplasia [HPO term]
- Thick vermilion border [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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