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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
chondrodysplasia with joint dislocations gPAPP type
Summary
- Synonym
-
- gPAPP deficiency
- Definition
- An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12.
- Super Class
- autosomal recessive disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0112224
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001234 | Hitchhiker thumb |
| HP:0012368 | Flat face |
| HP:0001773 | Short foot |
| HP:0000365 | Hearing impairment |
| HP:0003577 | Congenital onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001831 | Short toe |
| HP:0004322 | Short stature |
| HP:0000431 | Wide nasal bridge |
| HP:0009190 | Irregular epiphyses of the metacarpals |
