{"_id":"MONDO:0016576","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"10108-64-2","chemical_name":"Cadmium Chloride","direct_evidence":"marker/mechanism","mesh_chemical_id":"D019256","pubmed":["18302266","20213698"],"source":"CTD"},{"cas_registry_number":"50-18-0","chemical_name":"Cyclophosphamide","direct_evidence":"marker/mechanism","mesh_chemical_id":"D003520","pubmed":"19103281","source":"CTD"}],"mesh":"C574275","pathway_related_to_disease":{"inference_gene_symbol":"DLX5","kegg_pathway_id":"hsa04550","pathway_name":"Signaling pathways regulating pluripotency of stem cells","source":"CTD"}},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0080001","DOID:65","DOID:0080006","DOID:4","DOID:17","DOID:7"],"children":["DOID:0090021","DOID:0090022","DOID:0090023","DOID:0090024","DOID:0090025","DOID:0090026","DOID:0090027"],"def":"\"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]","descendants":["DOID:0090026","DOID:0090023","DOID:0090022","DOID:0090025","DOID:0090021","DOID:0090024","DOID:0090027"],"doid":"DOID:0090020","name":"split hand-foot malformation","parents":["DOID:0080006"],"synonyms":{"exact":["lobster-claw deformity","split-hand deformity"]},"xrefs":{"gard":"6319","mesh":"C574275","mim":"PS183600","ncit":"C75000","ordo":"2440","snomedct_us_2025_09_01":"81208006","umls_cui":"C0265554"}},"hpo":{"disease_name":"Isolated split hand-split foot malformation","orphanet":"2440","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0012165","orphanet_refs":"orphanet:2440"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001839","orphanet_refs":"orphanet:2440"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0004058","orphanet_refs":"orphanet:2440"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0006101","orphanet_refs":"orphanet:2440"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000407","orphanet_refs":"orphanet:2440"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000526","orphanet_refs":"orphanet:2440"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001171","orphanet_refs":"orphanet:2440"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004050","orphanet_refs":"orphanet:2440"}]},"mondo":{"ancestors":["MONDO:7770007","MONDO:0700096","MONDO:7770009","MONDO:0005497","MONDO:0021147","MONDO:0005381","MONDO:0005172","MONDO:0000001","MONDO:0002081","MONDO:0018234","MONDO:0003847","MONDO:7770006","MONDO:7770008"],"children":["MONDO:0008464","MONDO:0009157","MONDO:0009525","MONDO:0010736","MONDO:0011535","MONDO:0011709"],"definition":"Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported. [Orphanet:2440]","descendants":["MONDO:0011535","MONDO:0008464","MONDO:0011709","MONDO:0009525","MONDO:0010736","MONDO:0009157"],"label":"split hand-foot malformation","mondo":"MONDO:0016576","parents":["MONDO:0003847","MONDO:0018234"],"should_conform_to":{"http":["http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"]},"synonym":{"exact":["ectrodactyly","FEWER digits","SHFM","split hand foot malformation","Split Hand/Split Foot Malformation","split-hand/foot malformation"]},"xrefs":{"doid":["DOID:0090020"],"gard":["0006319"],"medgen":["78566"],"ncit":["C75000"],"nord":["1731"],"omimps":["183600"],"orphanet":["2440"],"sctid":["81208006"],"umls":["C0265554"]}},"original_id":["MESH:C574275","orphanet:2440"],"umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"C574275","preferred":"C574275"},"nci":{"non-preferred":"C75000","preferred":"C75000"},"snomed":{"non-preferred":"81208006","preferred":"81208006"},"umls":"C0265554"}}