Meckel syndrome, type 6

Preferred Label : Meckel syndrome, type 6;

Symbol : MKS6;

CISMeF acronym : MKS6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coiled-coil and C2 domains-containing protein 2A gene (CC2D2A, 612013.0002);

Prefixed ID : #612284;

Details

Origin ID

612284;

UMLS CUI

C2676790;

Automatic exact mappings (from CISMeF team)
- coiled-coil and C2 domain containing 2A [HGNC gene]
- coiled-coil and C2 domain containing 2A [ORDO Gene]
Broader ORDO disease(s)
- Meckel syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Meckel syndrome 6 [DO Concept]
- meckel syndrome, type 6 [MeSH concept]
- meckel syndrome, type 6 [MeSH Supplementary Concept]
DO Cross reference
- Meckel syndrome 6 [DO Concept]
Genes related to phenotype
- Coiled-coil and c2 domains-containing protein 2a [OMIM gene]
HPO term(s)
- Abnormal internal genitalia [HPO term]
- Absent gallbladder [HPO term]
- Anencephaly [HPO term]
- Aplasia of the bladder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Bilobed right lung [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cystic liver disease [HPO term]
- Fetal onset [HPO term]
- Hepatic cysts [HPO term]
- Hepatic fibrosis [HPO term]
- Horseshoe kidney [HPO term]
- Hydrocephalus [HPO term]
- Occipital encephalocele [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal cyst [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Meckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Meckel syndrome 6 [DO Concept]
- meckel syndrome, type 6 [MeSH Supplementary Concept]
- meckel syndrome, type 6 [MeSH concept]
Validated automatic mappings to NTBT
- Meckel syndrome [ORDO Disease]

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