Osteochondrodysplasia, brachydactyly, and overlapping malformed digits

Preferred Label : Osteochondrodysplasia, brachydactyly, and overlapping malformed digits;

Symbol : OCBMD;

CISMeF acronym : OCBMD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carbohydrate sulfotransferase-11 gene (CHST11, 610128.0001);

Prefixed ID : #618167;

Details

Origin ID

618167;

UMLS CUI

C4748496;

Genes related to phenotype
- Carbohydrate sulfotransferase 11 [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad hallux [HPO term]
- Hallux valgus [HPO term]
- Mild short stature [HPO term]
- Overlapping fingers [HPO term]
- Patellar dislocation [HPO term]
- Pectus excavatum [HPO term]
- Postaxial polydactyly [HPO term]
- Scoliosis [HPO term]
- Short distal phalanx of finger [HPO term]
- Short hallux [HPO term]
- Short thumb [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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