split hand-foot malformation
Information
- Disease name
- split hand-foot malformation
- Disease ID
- DOID:0090020
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12668597, url:https\://www.ncbi.nlm.nih.gov/pubmed/7802032]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
- Disase is a (Disease Ontology)
- DOID:0080006
- Cross Reference ID (Disease Ontology)
- GARD:6319
- Cross Reference ID (Disease Ontology)
- MESH:C574275
- Cross Reference ID (Disease Ontology)
- MIM:PS183600
- Cross Reference ID (Disease Ontology)
- NCI:C75000
- Cross Reference ID (Disease Ontology)
- ORDO:2440
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:81208006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265554
- Exact Synonym (Disease Ontology)
- lobster-claw deformity
- Exact Synonym (Disease Ontology)
- split-hand deformity