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Cartilage-hair hypoplasia
rareCartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.
- Identifiers
- MONDO:0009595 OMIM:250250Orphanet:175
- Causal genes
- RMRP
- Part of
- Autosomal recessive diseaseEctodermal dysplasia syndromeImmuno-osseous dysplasiaSkeletal system disorder
- Also known as
- autosomal recessive metaphyseal chondrodysplasia · cartilage hair hypoplasia · cartilage hair hypoplasia like syndrome · CHH · McKusick Type Metaphyseal Chondrodysplasia
Subtypes
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