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Ontology Browser

Term:
split hand-foot malformation 3 (DOID:0090025)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
autosomal dominant nonsyndromic deafness 51  
Baetz-Greenwalt syndrome 
Bird Headed Dwarfism Montreal Type 
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
cerebrocostomandibular syndrome  
Chromosome 10q Duplication Syndrome 
chromosome 16p11.2 duplication syndrome 
chromosome 16p13.3 duplication syndrome 
chromosome 17p13.3 duplication syndrome  
chromosome 17q12 duplication syndrome 
chromosome 17q21.31 duplication syndrome 
chromosome 1q21.1 duplication syndrome 
chromosome 22q11.2 microduplication syndrome 
chromosome 22q13 duplication syndrome 
chromosome 2q31.1 duplication syndrome 
chromosome 3q29 microduplication syndrome 
chromosome 5p13 duplication syndrome 
chromosome Xp11.22 duplication syndrome  
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq26.3 Duplication Syndrome  
Chromosome Xq28 Duplication Syndrome 
Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia 
Coffin-Siris syndrome +   
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
Crumpled Helices and Small Mouth 
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 
Genito Palato Cardiac Syndrome 
hereditary mixed polyposis syndrome 1  
Ho Kaufman Mcalister Syndrome 
Klinefelter syndrome  
Meier-Gorlin syndrome +   
Milner Khallouf Gibson Syndrome 
Multiple Epiphyseal Dysplasia with Robin Phenotype 
NF1 Microduplication Syndrome 
partial trisomy distal 4q 
postaxial acrofacial dysostosis  
Schweitzer Kemink Graham Syndrome 
split hand-foot malformation 1  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 2 
split hand-foot malformation 3  
A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. (DO)
split hand-foot malformation 4  
split hand-foot malformation 5 
split hand-foot malformation 6  
Split-Foot Malformation with Mesoaxial Polydactyly  
Split-Hand and Split-Foot With Hypodontia 
Split-Hand-Foot Malformation with Long Bone Deficiency 1 
Split-Hand/Foot Malformation with Long Bone Deficiency 2 
Split-Hand/Foot Malformation with Long Bone Deficiency 3 
syndactyly +   
syndromic X-linked intellectual disability Lubs type  
Tetrasomy 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Trisomy +   
Yunis-Varon syndrome  

Synonyms
Exact Synonyms: SHFM3 ;   SHSF3 ;   chromosome 10q24 duplication syndrome ;   distal limb deficiencies with micrognathia
Primary IDs: MESH:C565437
Alternate IDs: OMIM:246560
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/14699611 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.