Meckel syndrome, type 3

Preferred Label : Meckel syndrome, type 3;

Symbol : MKS3;

CISMeF acronym : MKS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Meckel-gruber syndrome, type 3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 67 gene (TMEM67, 609884.0001);

Prefixed ID : #607361;

Détails

Origin ID

607361;

UMLS CUI

C1846357;

Broader ORDO disease(s)
- Meckel syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Meckel syndrome 3 [DO Concept]
- meckel syndrome type 3 [MeSH Supplementary Concept]
DO Cross reference
- Meckel syndrome 3 [DO Concept]
Genes related to phenotype
- Transmembrane protein 67 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Cleft palate [HPO term]
- Dandy-Walker malformation [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hydrocephalus [HPO term]
- Malformation of the hepatic ductal plate [HPO term]
- Multicystic kidney dysplasia [HPO term]
- Occipital encephalocele [HPO term]
- Polydactyly [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
ORDO concept(s)
- Meckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Meckel syndrome 3 [DO Concept]
- Meckel syndrome type 3 [MeSH concept]
- meckel syndrome type 3 [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Meckel syndrome [ORDO Disease]

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

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