acromelic dysplasia
MONDO:0019695Mondo
Findings
No curated finding names acromelic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GDF5HGNC:4220
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (18)
- acrocapitofemoral dysplasia
- acrodysostosis
- Acromicric dysplasia
- Angel-shaped phalango-epiphyseal dysplasia
- craniofacial conodysplasia
- geleophysic dysplasia
- intellectual disability-balding-patella luxation-acromicria syndrome
- Leri pleonosteosis
- Myhre syndrome
- peripheral dysostosis
- pseudohypoparathyroidism type 1A
- pseudohypoparathyroidism type 1C
- pseudopseudohypoparathyroidism
- short stature-brachydactyly-obesity-global developmental delay syndrome
- short-rib thoracic dysplasia 9 with or without polydactyly
- terminal osseous dysplasia-pigmentary defects syndrome
- trichorhinophalangeal syndrome
- Weill-Marchesani syndrome