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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
split hand-foot malformation
Summary
- Synonym
-
- lobster-claw deformity
- split-hand deformity
- Definition
- A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
- Super Class
- bone development disease
External Links
- Disease Ontology
- DOID:0090020
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16880 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | |
| Q9BXR0 | Queuine tRNA-ribosyltransferase catalytic subunit 1 |
