Meckel syndrome, type 10

Preferred Label : Meckel syndrome, type 10;

Symbol : MKS10;

CISMeF acronym : JBTS34; MKS10;

Type : Phenotype, molecular basis known;

Included titles and symbols : Joubert syndrome 34; JBTS34;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the B9 domain-containing protein 2 gene (B9D2, 611951.0001);

Prefixed ID : #614175;

Details

Origin ID

614175;

UMLS CUI

C3280036;

Automatic exact mappings (from CISMeF team)
- B9 domain containing 2 [ORDO Gene]
- B9 domain containing 2 [HGNC gene]
- B9D2 wt Allele [NCIt concept]
Genes related to phenotype
- B9 domain-containing protein 2 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Anencephaly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Epicanthus [HPO term]
- Frontal bossing [HPO term]
- Hypospadias [HPO term]
- Micropenis [HPO term]
- Molar tooth sign on MRI [HPO term]
- Narrow palpebral fissure [HPO term]
- Occipital encephalocele [HPO term]
- Postaxial polydactyly [HPO term]
- Ptosis [HPO term]
- Renal cyst [HPO term]
- Sacral dimple [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Meckel syndrome [ORDO Disease]

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