FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term acrocapitofemoral dysplasia ID (Ontology) DOID:0050604 (Human Disease)
Definition An osteochondrodysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that has_material_basis_in homozygous mutation in the Indian hedgehog homolog (IHH) gene on chromosome 2q35.
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 Genes
 acrocapitofemoral dysplasia       1
 for disease ribbon | acrocapitofemoral dysplasia       1
 model of | acrocapitofemoral dysplasia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
bone development disease         |
 |__osteochondrodysplasia________|
cartilage disease                |
 |__osteochondrodysplasia________|
                                 acrocapitofemoral dysplasia  1 rec.
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Is a autosomal recessive disease
osteochondrodysplasia
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Synonyms
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GARD:10605
MESH:C564334
MIM:607778
ORDO:63446