Meckel syndrome, type 5

Preferred Label : Meckel syndrome, type 5;

Symbol : MKS5;

CISMeF acronym : MKS5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RPGRIP1-like gene (RPGRIP1L, 610937.0005).;

Prefixed ID : #611561;

Details

Origin ID

611561;

UMLS CUI

C1969052;

Automatic exact mappings (from CISMeF team)
- RPGRIP1 like [ORDO Gene]
- RPGRIP1 like [HGNC gene]
Broader ORDO disease(s)
- Meckel syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Meckel syndrome 5 [DO Concept]
- meckel syndrome, type 5 [MeSH concept]
- meckel syndrome, type 5 [MeSH Supplementary Concept]
DO Cross reference
- Meckel syndrome 5 [DO Concept]
Genes related to phenotype
- Rpgrip1-like [OMIM gene]
HPO term(s)
- Abnormality of the urinary system [HPO term]
- Anencephaly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Bowing of the long bones [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Genu varus [HPO term]
- Heterogeneous [HPO term]
- Microphthalmia [HPO term]
- Occipital encephalocele [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 5 [DO Concept]
- meckel syndrome, type 5 [MeSH Supplementary Concept]
- meckel syndrome, type 5 [MeSH concept]
Validated automatic mappings to NTBT
- Meckel syndrome [ORDO Disease]

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