Cleidocranial dysplasia, recessive form

Preferred Label : Cleidocranial dysplasia, recessive form;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Goodman et al. (1975) described 2 families in which offspring of unaffected consanguineous parents had a particularly severe form of cleidocranial dysplasia. Spinal anomalies were present and the affected persons were dwarfed. *FIELD* RF 1. Goodman, R. M.; Tadmor, R.; Zaritsky, A.; Becker, S. A.: Evidence for an autosomal recessive form of cleidocranial dysostosis. Clin. Genet. 8: 20-29, 1975. *FIELD* CS;

Inheritance : Severe autosomal recessive form, usually dominant;

Prefixed ID : 216330;

Details

Origin ID

216330;

UMLS CUI

C1859080;

Currated CISMeF NLP mapping
- cleidocranial dysplasia, recessive form [MeSH concept]
- cleidocranial dysplasia, recessive form [MeSH Supplementary Concept]
DO Cross reference
- cleidocranial dysplasia [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Dwarfism [HPO term]
- Severe short stature [HPO term]
ORDO concept(s)
- Cleidocranial dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cleidocranial dysplasia, recessive form [MeSH Supplementary Concept]
- cleidocranial dysplasia, recessive form [MeSH concept]

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